Incidental Mutation 'RF022:Acap3'
| ID |
603930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acap3
|
| Ensembl Gene |
ENSMUSG00000029033 |
| Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
| Synonyms |
Centb5, Kiaa1716-hp |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
RF022 (G1)
|
| Quality Score |
214.46 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155976332-155991708 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (5 aa in frame mutation) |
| DNA Base Change (assembly) |
CCTGGGCTGCTG to CCTGGGCTGCTGCATACTGGGCTGCTG
at 155989553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079031]
[ENSMUST00000105584]
|
| AlphaFold |
Q6NXL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079031
|
| SMART Domains |
Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
PH
|
265 |
361 |
6.35e-16 |
SMART |
|
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
|
ArfGap
|
399 |
521 |
4.62e-56 |
SMART |
|
low complexity region
|
554 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
601 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
686 |
N/A |
INTRINSIC |
|
ANK
|
696 |
725 |
3.91e-3 |
SMART |
|
ANK
|
729 |
758 |
2.43e1 |
SMART |
|
low complexity region
|
781 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105584
|
| SMART Domains |
Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
3 |
236 |
4.1e-95 |
PFAM |
|
PH
|
269 |
365 |
6.35e-16 |
SMART |
|
low complexity region
|
381 |
395 |
N/A |
INTRINSIC |
|
ArfGap
|
403 |
525 |
4.62e-56 |
SMART |
|
low complexity region
|
558 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
690 |
N/A |
INTRINSIC |
|
ANK
|
700 |
729 |
3.91e-3 |
SMART |
|
ANK
|
733 |
762 |
2.43e1 |
SMART |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
813 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
GTACT |
GTACTACT |
12: 110,634,877 (GRCm39) |
|
probably null |
Het |
| Adam6b |
A |
T |
12: 113,455,289 (GRCm39) |
E702V |
possibly damaging |
Het |
| Arpc3 |
A |
G |
5: 122,538,489 (GRCm39) |
T7A |
probably benign |
Het |
| Bcl3 |
G |
A |
7: 19,542,966 (GRCm39) |
P393L |
probably damaging |
Het |
| Ceacam9 |
A |
G |
7: 16,459,304 (GRCm39) |
D201G |
possibly damaging |
Het |
| Chga |
AGC |
AGCCGC |
12: 102,527,679 (GRCm39) |
|
probably benign |
Het |
| Clgn |
A |
G |
8: 84,152,235 (GRCm39) |
K579R |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 46,998,599 (GRCm39) |
R884W |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,954,207 (GRCm39) |
D377E |
probably damaging |
Het |
| Cort |
GCCCACTCGT |
G |
4: 149,209,869 (GRCm39) |
|
probably benign |
Het |
| D5Ertd579e |
A |
C |
5: 36,772,006 (GRCm39) |
I796M |
probably damaging |
Het |
| Dmkn |
GGTGGAAGTGGTGGAAG |
GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG |
7: 30,466,600 (GRCm39) |
|
probably benign |
Het |
| Dpagt1 |
G |
T |
9: 44,243,262 (GRCm39) |
V266L |
possibly damaging |
Het |
| Ebf3 |
C |
A |
7: 136,915,671 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
AGCAGCCGCAGCC |
AGCAGCC |
12: 80,522,691 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CACTCCTGGTGT |
CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT |
17: 23,981,141 (GRCm39) |
|
probably null |
Het |
| Gab3 |
CTT |
CTTATT |
X: 74,043,600 (GRCm39) |
|
probably null |
Het |
| Golga4 |
A |
G |
9: 118,387,057 (GRCm39) |
D1393G |
probably damaging |
Het |
| Gpc5 |
G |
A |
14: 115,789,688 (GRCm39) |
V521I |
probably damaging |
Het |
| Grik1 |
A |
T |
16: 87,693,225 (GRCm39) |
N859K |
|
Het |
| Insrr |
G |
A |
3: 87,711,792 (GRCm39) |
A511T |
possibly damaging |
Het |
| Isx |
A |
G |
8: 75,600,474 (GRCm39) |
D69G |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
| Lkaaear1 |
CAGCTCCAG |
CAGCTCCAGGTCGAGCTCCAG |
2: 181,339,370 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 75,185,014 (GRCm39) |
|
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,029,841 (GRCm39) |
E915G |
unknown |
Het |
| Maml3 |
A |
G |
3: 51,764,083 (GRCm39) |
S294P |
probably damaging |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,426 (GRCm39) |
|
probably benign |
Het |
| Mef2d |
A |
T |
3: 88,075,574 (GRCm39) |
T486S |
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,053,689 (GRCm39) |
V139A |
possibly damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2z8 |
T |
G |
8: 72,812,468 (GRCm39) |
*315G |
probably null |
Het |
| Pdik1l |
GTTTTTGTTTT |
GTTTTTGTTTTTTTTTTGTTTT |
4: 134,006,678 (GRCm39) |
|
probably null |
Het |
| Pnma8a |
TCATGATGCACCTGCTTCAACATC |
TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC |
7: 16,695,352 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
T |
C |
7: 107,296,817 (GRCm39) |
L177P |
probably damaging |
Het |
| Ppp1r13l |
ACAGGCACCCTGCTCCGGC |
AC |
7: 19,102,467 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,552,367 (GRCm39) |
F966L |
probably benign |
Het |
| Rad17 |
A |
G |
13: 100,773,593 (GRCm39) |
L132S |
probably damaging |
Het |
| Raph1 |
GG |
GGGGG |
1: 60,528,426 (GRCm39) |
|
probably benign |
Het |
| Rnf126 |
AGGACGAGG |
AG |
10: 79,594,977 (GRCm39) |
|
probably null |
Het |
| Rwdd2b |
C |
T |
16: 87,233,558 (GRCm39) |
A181T |
probably benign |
Het |
| Sh3pxd2b |
GCCTGT |
GCCTGTTCCTGT |
11: 32,373,054 (GRCm39) |
|
probably benign |
Het |
| Six3 |
CGG |
CGGTGG |
17: 85,928,784 (GRCm39) |
|
probably benign |
Het |
| Sla |
C |
T |
15: 66,654,593 (GRCm39) |
G231D |
probably benign |
Het |
| Tcof1 |
CAG |
CAGTAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCAACA |
17: 48,097,019 (GRCm39) |
|
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,902,092 (GRCm39) |
E192D |
probably damaging |
Het |
| Tmem123 |
A |
G |
9: 7,791,414 (GRCm39) |
Y171C |
probably damaging |
Het |
| Tnrc18 |
G |
A |
5: 142,759,385 (GRCm39) |
A999V |
|
Het |
| Triobp |
C |
T |
15: 78,858,482 (GRCm39) |
P1361L |
probably benign |
Het |
| Ubac1 |
A |
T |
2: 25,895,470 (GRCm39) |
W328R |
probably damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,688,200 (GRCm39) |
N324S |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,939,472 (GRCm39) |
I407T |
possibly damaging |
Het |
| Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Acap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Acap3
|
APN |
4 |
155,986,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01815:Acap3
|
APN |
4 |
155,986,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Acap3
|
APN |
4 |
155,989,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02387:Acap3
|
APN |
4 |
155,986,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02544:Acap3
|
APN |
4 |
155,976,867 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03124:Acap3
|
APN |
4 |
155,989,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03052:Acap3
|
UTSW |
4 |
155,987,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4514001:Acap3
|
UTSW |
4 |
155,987,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0207:Acap3
|
UTSW |
4 |
155,983,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Acap3
|
UTSW |
4 |
155,986,785 (GRCm39) |
nonsense |
probably null |
|
|
R1110:Acap3
|
UTSW |
4 |
155,989,856 (GRCm39) |
splice site |
probably null |
|
|
R1387:Acap3
|
UTSW |
4 |
155,983,937 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1475:Acap3
|
UTSW |
4 |
155,987,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Acap3
|
UTSW |
4 |
155,980,631 (GRCm39) |
splice site |
probably benign |
|
|
R2136:Acap3
|
UTSW |
4 |
155,981,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Acap3
|
UTSW |
4 |
155,990,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Acap3
|
UTSW |
4 |
155,988,319 (GRCm39) |
splice site |
probably null |
|
|
R2897:Acap3
|
UTSW |
4 |
155,989,388 (GRCm39) |
splice site |
probably null |
|
|
R2898:Acap3
|
UTSW |
4 |
155,987,916 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2898:Acap3
|
UTSW |
4 |
155,989,388 (GRCm39) |
splice site |
probably null |
|
|
R3008:Acap3
|
UTSW |
4 |
155,990,139 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4170:Acap3
|
UTSW |
4 |
155,984,458 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4193:Acap3
|
UTSW |
4 |
155,986,234 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4822:Acap3
|
UTSW |
4 |
155,986,908 (GRCm39) |
intron |
probably benign |
|
|
R4882:Acap3
|
UTSW |
4 |
155,990,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5482:Acap3
|
UTSW |
4 |
155,984,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5655:Acap3
|
UTSW |
4 |
155,981,076 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5769:Acap3
|
UTSW |
4 |
155,986,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5943:Acap3
|
UTSW |
4 |
155,983,879 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6236:Acap3
|
UTSW |
4 |
155,989,664 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6259:Acap3
|
UTSW |
4 |
155,980,575 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6790:Acap3
|
UTSW |
4 |
155,987,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Acap3
|
UTSW |
4 |
155,988,306 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7352:Acap3
|
UTSW |
4 |
155,990,168 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7442:Acap3
|
UTSW |
4 |
155,990,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8722:Acap3
|
UTSW |
4 |
155,990,415 (GRCm39) |
makesense |
probably null |
|
|
R8810:Acap3
|
UTSW |
4 |
155,990,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Acap3
|
UTSW |
4 |
155,990,371 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9182:Acap3
|
UTSW |
4 |
155,989,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Acap3
|
UTSW |
4 |
155,990,145 (GRCm39) |
missense |
probably benign |
0.07 |
|
RF008:Acap3
|
UTSW |
4 |
155,989,555 (GRCm39) |
small insertion |
probably benign |
|
|
RF010:Acap3
|
UTSW |
4 |
155,989,553 (GRCm39) |
small insertion |
probably benign |
|
|
RF013:Acap3
|
UTSW |
4 |
155,989,553 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Acap3
|
UTSW |
4 |
155,989,559 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Acap3
|
UTSW |
4 |
155,989,548 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Acap3
|
UTSW |
4 |
155,989,559 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:Acap3
|
UTSW |
4 |
155,989,549 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Acap3
|
UTSW |
4 |
155,989,548 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Acap3
|
UTSW |
4 |
155,989,544 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Acap3
|
UTSW |
4 |
155,989,549 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Acap3
|
UTSW |
4 |
155,989,549 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Acap3
|
UTSW |
4 |
155,989,557 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Acap3
|
UTSW |
4 |
155,989,557 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Acap3
|
UTSW |
4 |
155,989,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Acap3
|
UTSW |
4 |
155,989,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGATGTTCTTGCCTTCGG -3'
(R):5'- ACACGTAGGTATGCAGTCTTG -3'
Sequencing Primer
(F):5'- AGTGGTGGACAGTGTCACC -3'
(R):5'- GTTTTTCATATAAGCCCTGCCTGTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation