Incidental Mutation 'FR4342:Apc'
| ID |
511302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apc
|
| Ensembl Gene |
ENSMUSG00000005871 |
| Gene Name |
APC, WNT signaling pathway regulator |
| Synonyms |
Min, adenomatosis polyposis coli, CC1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
FR4342 ()
|
| Quality Score |
214.472 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
34353977-34455605 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
CAATAAAGC to CAATAAAGCAAATAAAGC
at 34415052 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066133]
[ENSMUST00000079362]
[ENSMUST00000115781]
[ENSMUST00000171187]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066133
|
| SMART Domains |
Protein: ENSMUSP00000064214
Gene: ENSMUSG00000005871
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DEB|B
|
2 |
55 |
8e-29 |
PDB |
|
low complexity region
|
92 |
109 |
N/A |
INTRINSIC |
|
Pfam:Suppressor_APC
|
124 |
206 |
2.3e-32 |
PFAM |
|
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079362
|
| SMART Domains |
Protein: ENSMUSP00000078337
Gene: ENSMUSG00000005871
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APC_N_CC
|
4 |
55 |
6e-32 |
PFAM |
|
low complexity region
|
92 |
109 |
N/A |
INTRINSIC |
|
Pfam:Suppressor_APC
|
125 |
205 |
2e-24 |
PFAM |
|
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
|
ARM
|
338 |
390 |
6.14e-5 |
SMART |
|
ARM
|
457 |
508 |
1.62e-4 |
SMART |
|
ARM
|
510 |
551 |
8.56e-4 |
SMART |
|
ARM
|
554 |
595 |
4.45e-2 |
SMART |
|
ARM
|
597 |
642 |
5.76e1 |
SMART |
|
ARM
|
647 |
687 |
1.29e-7 |
SMART |
|
Pfam:Arm_APC_u3
|
730 |
1017 |
5e-170 |
PFAM |
|
Pfam:APC_15aa
|
1018 |
1032 |
1.1e-8 |
PFAM |
|
Pfam:APC_u5
|
1034 |
1133 |
7.6e-55 |
PFAM |
|
Pfam:APC_15aa
|
1154 |
1168 |
1.6e-8 |
PFAM |
|
Pfam:APC_15aa
|
1171 |
1185 |
1.9e-9 |
PFAM |
|
low complexity region
|
1187 |
1204 |
N/A |
INTRINSIC |
|
Pfam:APC_crr
|
1255 |
1279 |
1.5e-15 |
PFAM |
|
Pfam:APC_u9
|
1280 |
1367 |
1.9e-34 |
PFAM |
|
Pfam:APC_crr
|
1370 |
1393 |
2.2e-10 |
PFAM |
|
low complexity region
|
1431 |
1449 |
N/A |
INTRINSIC |
|
Pfam:APC_crr
|
1485 |
1509 |
2.1e-9 |
PFAM |
|
low complexity region
|
1532 |
1548 |
N/A |
INTRINSIC |
|
Pfam:SAMP
|
1568 |
1587 |
2.7e-11 |
PFAM |
|
Pfam:APC_crr
|
1635 |
1659 |
1.9e-15 |
PFAM |
|
Pfam:APC_u13
|
1660 |
1716 |
1.3e-31 |
PFAM |
|
Pfam:SAMP
|
1717 |
1736 |
3.2e-12 |
PFAM |
|
Pfam:APC_u14
|
1737 |
1837 |
1e-46 |
PFAM |
|
Pfam:APC_crr
|
1839 |
1864 |
6.8e-15 |
PFAM |
|
Pfam:APC_u15
|
1865 |
1945 |
1.8e-40 |
PFAM |
|
Pfam:APC_crr
|
1947 |
1971 |
1.6e-14 |
PFAM |
|
Pfam:APC_crr
|
2007 |
2030 |
1.8e-14 |
PFAM |
|
Pfam:SAMP
|
2033 |
2052 |
1.6e-13 |
PFAM |
|
low complexity region
|
2112 |
2146 |
N/A |
INTRINSIC |
|
Pfam:APC_basic
|
2223 |
2579 |
1.5e-110 |
PFAM |
|
low complexity region
|
2626 |
2638 |
N/A |
INTRINSIC |
|
Pfam:EB1_binding
|
2670 |
2842 |
9.3e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115781
|
| SMART Domains |
Protein: ENSMUSP00000111447
Gene: ENSMUSG00000005871
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DEB|B
|
2 |
55 |
1e-27 |
PDB |
|
low complexity region
|
92 |
109 |
N/A |
INTRINSIC |
|
Pfam:Suppressor_APC
|
124 |
206 |
1.5e-31 |
PFAM |
|
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
|
ARM
|
304 |
356 |
6.14e-5 |
SMART |
|
ARM
|
423 |
474 |
1.62e-4 |
SMART |
|
ARM
|
476 |
517 |
8.56e-4 |
SMART |
|
ARM
|
520 |
561 |
4.45e-2 |
SMART |
|
ARM
|
563 |
608 |
5.76e1 |
SMART |
|
ARM
|
613 |
653 |
1.29e-7 |
SMART |
|
Pfam:Arm
|
655 |
695 |
1.7e-6 |
PFAM |
|
low complexity region
|
797 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
923 |
935 |
N/A |
INTRINSIC |
|
Pfam:APC_15aa
|
984 |
999 |
3.7e-9 |
PFAM |
|
Pfam:APC_15aa
|
1100 |
1115 |
8.4e-8 |
PFAM |
|
Pfam:APC_15aa
|
1120 |
1135 |
9.9e-9 |
PFAM |
|
Pfam:APC_15aa
|
1137 |
1152 |
1.2e-9 |
PFAM |
|
low complexity region
|
1153 |
1170 |
N/A |
INTRINSIC |
|
Pfam:APC_crr
|
1220 |
1245 |
7.5e-15 |
PFAM |
|
low complexity region
|
1320 |
1331 |
N/A |
INTRINSIC |
|
Pfam:APC_crr
|
1334 |
1359 |
2.8e-11 |
PFAM |
|
low complexity region
|
1397 |
1415 |
N/A |
INTRINSIC |
|
Pfam:APC_crr
|
1450 |
1475 |
2.2e-8 |
PFAM |
|
low complexity region
|
1498 |
1514 |
N/A |
INTRINSIC |
|
Pfam:SAMP
|
1533 |
1553 |
8.4e-12 |
PFAM |
|
Pfam:APC_crr
|
1600 |
1625 |
3.5e-13 |
PFAM |
|
Pfam:SAMP
|
1682 |
1702 |
5e-12 |
PFAM |
|
low complexity region
|
1732 |
1744 |
N/A |
INTRINSIC |
|
Pfam:APC_crr
|
1805 |
1830 |
3.1e-12 |
PFAM |
|
low complexity region
|
1866 |
1877 |
N/A |
INTRINSIC |
|
Pfam:APC_crr
|
1912 |
1937 |
3.5e-13 |
PFAM |
|
Pfam:APC_crr
|
1971 |
1996 |
7.1e-14 |
PFAM |
|
Pfam:SAMP
|
1999 |
2018 |
4.6e-13 |
PFAM |
|
low complexity region
|
2078 |
2112 |
N/A |
INTRINSIC |
|
Pfam:APC_basic
|
2189 |
2545 |
1.1e-131 |
PFAM |
|
low complexity region
|
2592 |
2604 |
N/A |
INTRINSIC |
|
Pfam:EB1_binding
|
2636 |
2808 |
2.9e-90 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170023
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171187
|
| SMART Domains |
Protein: ENSMUSP00000127131
Gene: ENSMUSG00000005871
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
119 |
N/A |
INTRINSIC |
|
Pfam:Suppressor_APC
|
134 |
216 |
5.2e-32 |
PFAM |
|
ARM
|
320 |
372 |
6.14e-5 |
SMART |
|
ARM
|
439 |
490 |
1.62e-4 |
SMART |
|
ARM
|
492 |
533 |
8.56e-4 |
SMART |
|
ARM
|
536 |
577 |
4.45e-2 |
SMART |
|
ARM
|
579 |
624 |
5.76e1 |
SMART |
|
ARM
|
629 |
669 |
1.29e-7 |
SMART |
|
Pfam:Arm
|
671 |
711 |
6.3e-7 |
PFAM |
|
low complexity region
|
813 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
|
Pfam:APC_15aa
|
1000 |
1015 |
1.4e-9 |
PFAM |
|
Pfam:APC_15aa
|
1116 |
1131 |
3.1e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.4%
- 10x: 97.8%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(88) : Targeted(25) Gene trapped(62) Chemically induced(1)
|
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
TT |
TTATGT |
8: 125,566,572 (GRCm39) |
|
probably null |
Homo |
| 4930433I11Rik |
AACC |
A |
7: 40,642,479 (GRCm39) |
|
probably benign |
Het |
| 7530416G11Rik |
T |
A |
15: 85,378,508 (GRCm39) |
E45V |
unknown |
Homo |
| Ankrd35 |
TCCCC |
TCCC |
3: 96,590,831 (GRCm39) |
|
probably null |
Het |
| Anxa2 |
CCC |
CCCACC |
9: 69,387,487 (GRCm39) |
|
probably benign |
Het |
| Anxa2 |
C |
CCCA |
9: 69,387,492 (GRCm39) |
|
probably benign |
Het |
| Arrb2 |
C |
T |
11: 70,329,497 (GRCm39) |
T269M |
probably damaging |
Homo |
| Bcas3 |
G |
A |
11: 85,400,323 (GRCm39) |
V431I |
probably benign |
Homo |
| Begain |
CCCCGCC |
CCCCGCCCCCGCC |
12: 108,999,344 (GRCm39) |
|
probably benign |
Homo |
| Catsper2 |
TCA |
TCAACA |
2: 121,228,274 (GRCm39) |
|
probably benign |
Het |
| Ccdc121 |
GAGAAG |
GAG |
5: 31,644,717 (GRCm39) |
|
probably benign |
Homo |
| Cd164 |
G |
T |
10: 41,397,922 (GRCm39) |
A59S |
probably benign |
Homo |
| Cd22 |
C |
T |
7: 30,577,507 (GRCm39) |
R2H |
possibly damaging |
Homo |
| Cimip2b |
CAGAG |
CAG |
4: 43,427,384 (GRCm39) |
|
probably null |
Homo |
| Cluh |
GAGCCT |
GAGCCTCAGCCT |
11: 74,560,350 (GRCm39) |
|
probably benign |
Het |
| Cluh |
GCCTGA |
GCCTGAACCTGA |
11: 74,560,352 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
AGCCCC |
AGCCCCCGCCCC |
11: 101,080,401 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
C |
A |
15: 97,886,862 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
A |
T |
9: 105,811,373 (GRCm39) |
N715K |
unknown |
Homo |
| Cpeb4 |
T |
TGA |
11: 31,877,638 (GRCm39) |
|
probably benign |
Homo |
| Dbr1 |
AGGAGG |
AGGAGGGGGAGG |
9: 99,465,733 (GRCm39) |
|
probably benign |
Het |
| Defa29 |
C |
G |
8: 21,816,160 (GRCm39) |
R69P |
probably benign |
Het |
| Dhx8 |
CG |
CGAGAACGG |
11: 101,629,032 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
TCC |
TCCCCC |
2: 130,612,662 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,571,342 (GRCm39) |
G2817V |
probably damaging |
Homo |
| Dthd1 |
C |
CTTA |
5: 63,000,369 (GRCm39) |
|
probably benign |
Homo |
| E4f1 |
GC |
GCCCC |
17: 24,674,171 (GRCm39) |
|
probably benign |
Het |
| F830016B08Rik |
A |
ACAG |
18: 60,433,013 (GRCm39) |
|
probably benign |
Homo |
| Fbrsl1 |
GTGTGTGTGCTGGTGCGTGTGCTGGTG |
GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG |
5: 110,525,991 (GRCm39) |
|
probably benign |
Het |
| Fbxo22 |
A |
C |
9: 55,128,354 (GRCm39) |
|
probably null |
Het |
| Flg |
G |
A |
3: 93,197,820 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
TCC |
TCCTCCACC |
2: 113,356,128 (GRCm39) |
|
probably benign |
Homo |
| Frmpd2 |
G |
T |
14: 33,232,978 (GRCm39) |
L399F |
probably damaging |
Homo |
| Gbp2b |
A |
G |
3: 142,309,413 (GRCm39) |
I175V |
probably benign |
Het |
| Gjc2 |
T |
TCCCG |
11: 59,073,569 (GRCm39) |
|
probably benign |
Homo |
| Gm14496 |
A |
C |
2: 181,637,699 (GRCm39) |
K258Q |
probably benign |
Het |
| Gm4340 |
CAGAAG |
CAGAAGAAG |
10: 104,031,960 (GRCm39) |
|
probably benign |
Het |
| Gm4340 |
CAGAAG |
CAGAAGAAG |
10: 104,031,927 (GRCm39) |
|
probably benign |
Het |
| Gpatch11 |
AGAGGA |
AGAGGATGAGGA |
17: 79,149,607 (GRCm39) |
|
probably benign |
Het |
| H1f6 |
TGTGG |
TG |
13: 23,879,896 (GRCm39) |
|
probably benign |
Homo |
| H2-Q4 |
G |
A |
17: 35,599,381 (GRCm39) |
D155N |
probably damaging |
Homo |
| Hoxa3 |
G |
GCTT |
6: 52,147,110 (GRCm39) |
|
probably benign |
Homo |
| Ifi208 |
ATGGTG |
ATG |
1: 173,505,264 (GRCm39) |
|
probably benign |
Homo |
| Ighv5-9 |
C |
T |
12: 113,625,497 (GRCm39) |
S82N |
probably benign |
Homo |
| Klra10 |
G |
A |
6: 130,249,710 (GRCm39) |
R192C |
probably benign |
Het |
| Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,800 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
CGCC |
CGCCGCC |
11: 99,277,025 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
ACC |
ACCCCC |
11: 99,277,029 (GRCm39) |
|
probably benign |
Homo |
| Lce1m |
CGCTGCTGCTGCCACAGCA |
C |
3: 92,925,554 (GRCm39) |
|
probably benign |
Het |
| Mak16 |
T |
G,A |
8: 31,651,777 (GRCm39) |
E203D |
probably benign |
Homo |
| Med12l |
AGC |
AGCGGC |
3: 59,183,409 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGCGGC |
AGCGGCGGC |
3: 59,183,415 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
AGC |
AGCGGC |
5: 111,567,572 (GRCm39) |
|
probably benign |
Het |
| Nacad |
TC |
TCAGGGGC |
11: 6,549,762 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,561,979 (GRCm39) |
R1062K |
probably benign |
Het |
| Ndel1 |
G |
A |
11: 68,724,235 (GRCm39) |
P246L |
probably damaging |
Het |
| Nelfe |
AC |
ACAAAGAGCGGGATCGAGACAGAGCC |
17: 35,073,065 (GRCm39) |
|
probably benign |
Het |
| Or51q1 |
TCC |
TCCC |
7: 103,629,110 (GRCm39) |
|
probably null |
Het |
| Or5p70 |
A |
G |
7: 107,995,100 (GRCm39) |
T258A |
probably benign |
Het |
| Or5p70 |
G |
A |
7: 107,995,105 (GRCm39) |
M259I |
probably benign |
Het |
| P4ha2 |
GTGTTGCTG |
GTG |
11: 54,001,077 (GRCm39) |
|
probably benign |
Homo |
| Pde3b |
GGTGGTGGTG |
GGTGGTGGTGGTG |
7: 114,134,010 (GRCm39) |
|
probably benign |
Homo |
| Pdik1l |
ACCACC |
ACCACCCCCACC |
4: 134,006,820 (GRCm39) |
|
probably benign |
Homo |
| Phaf1 |
G |
A |
8: 105,967,730 (GRCm39) |
G207E |
probably benign |
Homo |
| Plekhs1 |
AGAC |
AGACCTCCCCCGCGAC |
19: 56,468,293 (GRCm39) |
|
probably benign |
Homo |
| Plekhs1 |
TCCAGAC |
TCCAGACCTCCCCCCAGAC |
19: 56,468,290 (GRCm39) |
|
probably benign |
Homo |
| Pramel16 |
AAGAG |
AAG |
4: 143,676,327 (GRCm39) |
|
probably null |
Het |
| Pramel16 |
G |
A |
4: 143,676,312 (GRCm39) |
T264M |
probably damaging |
Het |
| Pramel27 |
AA |
AATA |
4: 143,578,213 (GRCm39) |
|
probably null |
Homo |
| Prkn |
G |
A |
17: 12,073,650 (GRCm39) |
V323M |
probably damaging |
Homo |
| Ptms |
TCT |
TCTCCT |
6: 124,891,417 (GRCm39) |
|
probably benign |
Homo |
| Raet1d |
A |
G |
10: 22,247,458 (GRCm39) |
Q178R |
probably benign |
Het |
| Rtbdn |
AGCG |
AGCGCCGGCG |
8: 85,682,797 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GC |
GCAGCGCC |
8: 85,682,807 (GRCm39) |
|
probably benign |
Het |
| Semp2l2a |
G |
C |
8: 13,887,613 (GRCm39) |
H159Q |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,121,083 (GRCm39) |
K70N |
probably damaging |
Homo |
| Sfswap |
CCCACTC |
CCCACTCAGACCACTC |
5: 129,646,821 (GRCm39) |
|
probably benign |
Homo |
| Sp110 |
ACT |
ACTGCT |
1: 85,515,209 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
GCTCTC |
GCTCTCACTCTC |
4: 34,049,838 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
GGA |
GGATGA |
3: 99,963,565 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
GGAGGAGGA |
GGAGGAGGAGGA |
3: 99,963,568 (GRCm39) |
|
probably benign |
Homo |
| Speer4a1 |
C |
A |
5: 26,241,746 (GRCm39) |
E127* |
probably null |
Het |
| Sry |
GGT |
GGTTGT |
Y: 2,662,836 (GRCm39) |
|
probably benign |
Het |
| Sry |
TGG |
TGGGGG |
Y: 2,662,835 (GRCm39) |
|
probably benign |
Het |
| Sry |
CTGCTGGTG |
CTG |
Y: 2,663,146 (GRCm39) |
|
probably benign |
Het |
| Sry |
GGT |
GGTAGT |
Y: 2,662,839 (GRCm39) |
|
probably benign |
Homo |
| Tdpoz3 |
C |
T |
3: 93,733,819 (GRCm39) |
P165S |
probably benign |
Het |
| Tdpoz4 |
GAA |
GA |
3: 93,704,187 (GRCm39) |
|
probably null |
Het |
| Tert |
AGGCC |
AGGCCAAGGGGGCC |
13: 73,796,419 (GRCm39) |
|
probably benign |
Homo |
| Tmbim7 |
C |
T |
5: 3,720,064 (GRCm39) |
R100C |
possibly damaging |
Homo |
| Tnfrsf9 |
CT |
CTGAT |
4: 151,018,851 (GRCm39) |
|
probably benign |
Homo |
| Tob1 |
AGC |
AGCCGC |
11: 94,105,298 (GRCm39) |
|
probably benign |
Het |
| Trav6n-5 |
GCTT |
G |
14: 53,342,369 (GRCm39) |
|
probably benign |
Homo |
| Triobp |
G |
GTCA |
15: 78,877,592 (GRCm39) |
|
probably benign |
Homo |
| Tsen2 |
AGG |
AGGTGG |
6: 115,537,033 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
TCC |
TCCGCC |
11: 102,197,782 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
TC |
TCCCC |
11: 102,197,785 (GRCm39) |
|
probably benign |
Het |
| Vmn2r125 |
G |
A |
4: 156,703,260 (GRCm39) |
V213I |
probably benign |
Het |
| Vmn2r87 |
C |
T |
10: 130,314,583 (GRCm39) |
M334I |
probably benign |
Homo |
| Zdhhc16 |
G |
A |
19: 41,930,588 (GRCm39) |
|
probably benign |
Het |
| Zfp28 |
G |
A |
7: 6,397,862 (GRCm39) |
G766R |
probably damaging |
Het |
| Zfp335 |
GTCGTC |
GTCGTCGTC |
2: 164,749,385 (GRCm39) |
|
probably benign |
Het |
| Zfp335 |
C |
CCCC |
2: 164,749,397 (GRCm39) |
|
probably benign |
Het |
| Zfp428 |
G |
A |
7: 24,214,506 (GRCm39) |
D41N |
probably damaging |
Homo |
| Zfp429 |
A |
T |
13: 67,544,769 (GRCm39) |
F48Y |
probably benign |
Het |
| Zfp598 |
CCACC |
CCACCCACACC |
17: 24,899,754 (GRCm39) |
|
probably benign |
Het |
| Zfp93 |
G |
A |
7: 23,975,011 (GRCm39) |
R332H |
possibly damaging |
Het |
| Zpld2 |
G |
GCTC |
4: 133,929,942 (GRCm39) |
|
probably benign |
Homo |
|
| Other mutations in Apc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Apc
|
APN |
18 |
34,449,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00898:Apc
|
APN |
18 |
34,450,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01111:Apc
|
APN |
18 |
34,448,189 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01347:Apc
|
APN |
18 |
34,450,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01375:Apc
|
APN |
18 |
34,446,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01805:Apc
|
APN |
18 |
34,451,271 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01997:Apc
|
APN |
18 |
34,448,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02033:Apc
|
APN |
18 |
34,443,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02323:Apc
|
APN |
18 |
34,448,863 (GRCm39) |
nonsense |
probably null |
|
|
IGL02373:Apc
|
APN |
18 |
34,449,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02379:Apc
|
APN |
18 |
34,431,798 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02456:Apc
|
APN |
18 |
34,446,935 (GRCm39) |
nonsense |
probably null |
|
|
IGL02552:Apc
|
APN |
18 |
34,446,035 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02676:Apc
|
APN |
18 |
34,448,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Apc
|
APN |
18 |
34,447,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Apc
|
APN |
18 |
34,448,281 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02974:Apc
|
APN |
18 |
34,401,436 (GRCm39) |
splice site |
probably benign |
|
|
IGL03124:Apc
|
APN |
18 |
34,433,038 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03201:Apc
|
APN |
18 |
34,445,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03339:Apc
|
APN |
18 |
34,431,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Apc
|
UTSW |
18 |
34,415,050 (GRCm39) |
intron |
probably benign |
|
|
FR4449:Apc
|
UTSW |
18 |
34,415,058 (GRCm39) |
intron |
probably benign |
|
|
FR4449:Apc
|
UTSW |
18 |
34,415,053 (GRCm39) |
intron |
probably benign |
|
|
FR4548:Apc
|
UTSW |
18 |
34,415,051 (GRCm39) |
intron |
probably benign |
|
|
FR4737:Apc
|
UTSW |
18 |
34,415,052 (GRCm39) |
intron |
probably benign |
|
|
FR4976:Apc
|
UTSW |
18 |
34,415,057 (GRCm39) |
nonsense |
probably null |
|
|
FR4976:Apc
|
UTSW |
18 |
34,415,053 (GRCm39) |
intron |
probably benign |
|
|
FR4976:Apc
|
UTSW |
18 |
34,415,051 (GRCm39) |
intron |
probably benign |
|
|
R0385:Apc
|
UTSW |
18 |
34,448,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Apc
|
UTSW |
18 |
34,394,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0561:Apc
|
UTSW |
18 |
34,446,356 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0590:Apc
|
UTSW |
18 |
34,449,283 (GRCm39) |
nonsense |
probably null |
|
|
R0626:Apc
|
UTSW |
18 |
34,451,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0991:Apc
|
UTSW |
18 |
34,449,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Apc
|
UTSW |
18 |
34,448,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1663:Apc
|
UTSW |
18 |
34,401,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1737:Apc
|
UTSW |
18 |
34,450,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Apc
|
UTSW |
18 |
34,445,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Apc
|
UTSW |
18 |
34,450,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1887:Apc
|
UTSW |
18 |
34,405,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Apc
|
UTSW |
18 |
34,450,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Apc
|
UTSW |
18 |
34,433,057 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2005:Apc
|
UTSW |
18 |
34,443,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2013:Apc
|
UTSW |
18 |
34,448,644 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2014:Apc
|
UTSW |
18 |
34,448,644 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2015:Apc
|
UTSW |
18 |
34,448,644 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2017:Apc
|
UTSW |
18 |
34,446,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2056:Apc
|
UTSW |
18 |
34,449,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Apc
|
UTSW |
18 |
34,402,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Apc
|
UTSW |
18 |
34,409,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Apc
|
UTSW |
18 |
34,445,098 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2133:Apc
|
UTSW |
18 |
34,445,098 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2291:Apc
|
UTSW |
18 |
34,445,544 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2332:Apc
|
UTSW |
18 |
34,450,112 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2360:Apc
|
UTSW |
18 |
34,394,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2407:Apc
|
UTSW |
18 |
34,447,315 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2507:Apc
|
UTSW |
18 |
34,449,590 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2940:Apc
|
UTSW |
18 |
34,409,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Apc
|
UTSW |
18 |
34,446,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3411:Apc
|
UTSW |
18 |
34,402,312 (GRCm39) |
splice site |
probably benign |
|
|
R3778:Apc
|
UTSW |
18 |
34,446,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Apc
|
UTSW |
18 |
34,412,388 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4599:Apc
|
UTSW |
18 |
34,451,040 (GRCm39) |
nonsense |
probably null |
|
|
R4611:Apc
|
UTSW |
18 |
34,451,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Apc
|
UTSW |
18 |
34,431,647 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4969:Apc
|
UTSW |
18 |
34,445,971 (GRCm39) |
nonsense |
probably null |
|
|
R5007:Apc
|
UTSW |
18 |
34,446,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5066:Apc
|
UTSW |
18 |
34,449,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Apc
|
UTSW |
18 |
34,449,162 (GRCm39) |
nonsense |
probably null |
|
|
R5259:Apc
|
UTSW |
18 |
34,447,343 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5440:Apc
|
UTSW |
18 |
34,354,213 (GRCm39) |
unclassified |
probably benign |
|
|
R5508:Apc
|
UTSW |
18 |
34,431,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5512:Apc
|
UTSW |
18 |
34,443,962 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5850:Apc
|
UTSW |
18 |
34,451,116 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5951:Apc
|
UTSW |
18 |
34,450,199 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5966:Apc
|
UTSW |
18 |
34,354,140 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6081:Apc
|
UTSW |
18 |
34,423,164 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6116:Apc
|
UTSW |
18 |
34,449,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Apc
|
UTSW |
18 |
34,445,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Apc
|
UTSW |
18 |
34,445,581 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6467:Apc
|
UTSW |
18 |
34,402,252 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6974:Apc
|
UTSW |
18 |
34,431,480 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7027:Apc
|
UTSW |
18 |
34,445,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7096:Apc
|
UTSW |
18 |
34,449,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Apc
|
UTSW |
18 |
34,448,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7439:Apc
|
UTSW |
18 |
34,445,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7441:Apc
|
UTSW |
18 |
34,445,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7534:Apc
|
UTSW |
18 |
34,450,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7685:Apc
|
UTSW |
18 |
34,447,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Apc
|
UTSW |
18 |
34,405,592 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7954:Apc
|
UTSW |
18 |
34,447,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8352:Apc
|
UTSW |
18 |
34,445,804 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8452:Apc
|
UTSW |
18 |
34,445,804 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8497:Apc
|
UTSW |
18 |
34,446,083 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8545:Apc
|
UTSW |
18 |
34,450,084 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8554:Apc
|
UTSW |
18 |
34,445,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Apc
|
UTSW |
18 |
34,401,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Apc
|
UTSW |
18 |
34,354,074 (GRCm39) |
start gained |
probably benign |
|
|
R9061:Apc
|
UTSW |
18 |
34,446,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Apc
|
UTSW |
18 |
34,450,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Apc
|
UTSW |
18 |
34,447,040 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9521:Apc
|
UTSW |
18 |
34,445,738 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9546:Apc
|
UTSW |
18 |
34,445,311 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9547:Apc
|
UTSW |
18 |
34,445,311 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9557:Apc
|
UTSW |
18 |
34,451,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9592:Apc
|
UTSW |
18 |
34,443,823 (GRCm39) |
nonsense |
probably null |
|
|
R9675:Apc
|
UTSW |
18 |
34,449,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9736:Apc
|
UTSW |
18 |
34,450,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9792:Apc
|
UTSW |
18 |
34,447,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9793:Apc
|
UTSW |
18 |
34,447,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9795:Apc
|
UTSW |
18 |
34,447,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF046:Apc
|
UTSW |
18 |
34,415,062 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF063:Apc
|
UTSW |
18 |
34,415,062 (GRCm39) |
critical splice donor site |
probably benign |
|
|
X0021:Apc
|
UTSW |
18 |
34,445,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Apc
|
UTSW |
18 |
34,445,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Apc
|
UTSW |
18 |
34,446,220 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Apc
|
UTSW |
18 |
34,447,516 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGGGATACATAAGAGCCTG -3'
(R):5'- GGGATCTAATACCAACTTGAGGTAAC -3'
Sequencing Primer
(F):5'- TACTCAGCAAATGCAGGTGTC -3'
(R):5'- GTAACTGAACTGAATTGTGGGAC -3'
|
| Posted On |
2018-04-05 |
Incidental Mutation