Incidental Mutation 'R4792:Carmil1'
| ID |
368709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carmil1
|
| Ensembl Gene |
ENSMUSG00000021338 |
| Gene Name |
capping protein regulator and myosin 1 linker 1 |
| Synonyms |
Carmil, Lrrc16a, 1110037D04Rik, Lrrc16 |
| MMRRC Submission |
042419-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4792 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24196327-24464778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24325659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 224
(S224T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072889]
[ENSMUST00000110398]
|
| AlphaFold |
Q6EDY6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072889
AA Change: S224T
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: S224T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
LRR
|
245 |
272 |
2.42e1 |
SMART |
|
LRR
|
275 |
302 |
1.04e1 |
SMART |
|
LRR
|
304 |
331 |
3.1e0 |
SMART |
|
LRR
|
336 |
363 |
5.66e1 |
SMART |
|
Blast:LRR
|
423 |
450 |
9e-8 |
BLAST |
|
Blast:LRR
|
451 |
484 |
7e-9 |
BLAST |
|
LRR
|
574 |
601 |
8.81e-2 |
SMART |
|
Blast:LRR
|
602 |
629 |
6e-10 |
BLAST |
|
low complexity region
|
745 |
758 |
N/A |
INTRINSIC |
|
Pfam:CARMIL_C
|
790 |
1083 |
1.1e-101 |
PFAM |
|
low complexity region
|
1131 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1245 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1253 |
1268 |
N/A |
INTRINSIC |
|
low complexity region
|
1287 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1317 |
1332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110398
AA Change: S224T
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: S224T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
LRR
|
245 |
272 |
2.42e1 |
SMART |
|
LRR
|
275 |
302 |
1.04e1 |
SMART |
|
LRR
|
304 |
331 |
3.1e0 |
SMART |
|
LRR
|
336 |
363 |
5.66e1 |
SMART |
|
Blast:LRR
|
423 |
450 |
9e-8 |
BLAST |
|
LRR
|
451 |
480 |
3.15e1 |
SMART |
|
Pfam:LRR_6
|
481 |
507 |
1.9e-2 |
PFAM |
|
LRR
|
570 |
597 |
8.81e-2 |
SMART |
|
Blast:LRR
|
598 |
625 |
6e-10 |
BLAST |
|
low complexity region
|
741 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
888 |
N/A |
INTRINSIC |
|
PDB:3LK3|T
|
964 |
1076 |
1e-56 |
PDB |
|
low complexity region
|
1127 |
1143 |
N/A |
INTRINSIC |
|
low complexity region
|
1241 |
1247 |
N/A |
INTRINSIC |
|
low complexity region
|
1249 |
1264 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1313 |
1325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144159
|
| Meta Mutation Damage Score |
0.1016 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
97% (89/92) |
| MGI Phenotype |
PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
A |
G |
16: 88,504,651 (GRCm39) |
S49P |
possibly damaging |
Het |
| Abcb1a |
T |
C |
5: 8,796,657 (GRCm39) |
|
probably null |
Het |
| Adgb |
G |
A |
10: 10,274,647 (GRCm39) |
T770I |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,098,491 (GRCm39) |
T134S |
probably benign |
Het |
| Aldh1a1 |
A |
G |
19: 20,597,349 (GRCm39) |
N110S |
probably damaging |
Het |
| Alox5 |
C |
A |
6: 116,437,964 (GRCm39) |
V8L |
possibly damaging |
Het |
| Ambra1 |
A |
G |
2: 91,603,191 (GRCm39) |
T392A |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,058,051 (GRCm39) |
I2145V |
probably benign |
Het |
| Arhgap39 |
A |
G |
15: 76,625,717 (GRCm39) |
Y196H |
possibly damaging |
Het |
| Armh2 |
A |
G |
13: 24,930,490 (GRCm39) |
|
probably benign |
Het |
| Cfh |
G |
A |
1: 140,028,561 (GRCm39) |
Q706* |
probably null |
Het |
| Chd2 |
A |
C |
7: 73,118,325 (GRCm39) |
S1098A |
probably benign |
Het |
| Chrna5 |
A |
T |
9: 54,911,985 (GRCm39) |
I158F |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,060,975 (GRCm39) |
D207G |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,807,983 (GRCm39) |
T1022A |
unknown |
Het |
| Cul7 |
T |
A |
17: 46,967,976 (GRCm39) |
Y423* |
probably null |
Het |
| Cyp2e1 |
T |
C |
7: 140,353,588 (GRCm39) |
Y342H |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,125,275 (GRCm39) |
K1580E |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,066,651 (GRCm39) |
M2573T |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,929,881 (GRCm39) |
K370R |
possibly damaging |
Het |
| Edem1 |
T |
A |
6: 108,805,707 (GRCm39) |
|
probably benign |
Het |
| Erp29 |
C |
T |
5: 121,585,237 (GRCm39) |
E86K |
probably benign |
Het |
| Esrp2 |
C |
A |
8: 106,859,141 (GRCm39) |
R535L |
probably damaging |
Het |
| Gabrb2 |
C |
T |
11: 42,420,330 (GRCm39) |
|
probably benign |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,403,266 (GRCm39) |
V4395E |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmgb2 |
G |
A |
8: 57,966,344 (GRCm39) |
C106Y |
probably damaging |
Het |
| Hoxa10 |
T |
C |
6: 52,209,481 (GRCm39) |
|
probably benign |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,226 (GRCm39) |
Y255F |
probably benign |
Het |
| Ighd |
T |
C |
12: 113,379,819 (GRCm39) |
K42E |
probably benign |
Het |
| Ighv1-26 |
T |
C |
12: 114,752,191 (GRCm39) |
Y51C |
possibly damaging |
Het |
| Ighv5-2 |
C |
T |
12: 113,542,419 (GRCm39) |
E19K |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 106,970,668 (GRCm39) |
|
probably benign |
Het |
| Itk |
C |
T |
11: 46,235,658 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
T |
A |
8: 23,430,592 (GRCm39) |
H1982Q |
unknown |
Het |
| Kdm4d |
C |
T |
9: 14,374,686 (GRCm39) |
V391I |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lgr6 |
T |
A |
1: 134,949,544 (GRCm39) |
S229C |
probably benign |
Het |
| Lhx9 |
T |
A |
1: 138,766,089 (GRCm39) |
Y233F |
possibly damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Mapk4 |
T |
C |
18: 74,070,321 (GRCm39) |
T191A |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naglu |
C |
T |
11: 100,961,932 (GRCm39) |
T135M |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,693,643 (GRCm39) |
|
probably null |
Het |
| Nop56 |
T |
A |
2: 130,119,784 (GRCm39) |
V75E |
possibly damaging |
Het |
| Nr1i3 |
G |
A |
1: 171,046,164 (GRCm39) |
C283Y |
probably damaging |
Het |
| Or4x6 |
T |
A |
2: 89,949,174 (GRCm39) |
Y256F |
possibly damaging |
Het |
| Or51d1 |
G |
A |
7: 102,347,933 (GRCm39) |
G163R |
probably damaging |
Het |
| Or6c38 |
T |
G |
10: 128,929,489 (GRCm39) |
Y118S |
probably damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,452 (GRCm39) |
S99G |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,965,925 (GRCm39) |
D697E |
probably damaging |
Het |
| Plxnb1 |
G |
A |
9: 108,939,716 (GRCm39) |
D1462N |
probably damaging |
Het |
| Pnn |
G |
T |
12: 59,118,991 (GRCm39) |
V525F |
possibly damaging |
Het |
| Prrc2a |
A |
T |
17: 35,375,463 (GRCm39) |
D1062E |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,637,722 (GRCm39) |
V164E |
probably damaging |
Het |
| Psapl1 |
T |
C |
5: 36,362,547 (GRCm39) |
S380P |
probably benign |
Het |
| Rnf222 |
A |
T |
11: 68,783,845 (GRCm39) |
E137D |
probably damaging |
Het |
| Rsph10b |
A |
G |
5: 143,874,135 (GRCm39) |
T79A |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,950,817 (GRCm39) |
Q1164R |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,556,592 (GRCm39) |
D331G |
probably damaging |
Het |
| Shtn1 |
G |
C |
19: 59,039,305 (GRCm39) |
R45G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,438,519 (GRCm39) |
S1529N |
probably benign |
Het |
| St8sia3 |
T |
A |
18: 64,398,634 (GRCm39) |
V31E |
probably benign |
Het |
| Sult1b1 |
A |
T |
5: 87,662,906 (GRCm39) |
W265R |
probably damaging |
Het |
| Supt5 |
G |
T |
7: 28,015,754 (GRCm39) |
Q863K |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,804,124 (GRCm39) |
R380G |
probably benign |
Het |
| Tdpoz1 |
T |
A |
3: 93,577,845 (GRCm39) |
D313V |
possibly damaging |
Het |
| Tmem260 |
CAGGGACCGGCATAG |
CAG |
14: 48,749,451 (GRCm39) |
|
probably benign |
Het |
| Tpx2 |
A |
T |
2: 152,727,016 (GRCm39) |
T428S |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,851,705 (GRCm39) |
H786Q |
probably benign |
Het |
| Trpc6 |
A |
T |
9: 8,626,615 (GRCm39) |
M322L |
probably benign |
Het |
| Try10 |
T |
C |
6: 41,332,386 (GRCm39) |
V14A |
probably benign |
Het |
| Unc13d |
A |
T |
11: 115,961,108 (GRCm39) |
F416L |
probably damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,812,378 (GRCm39) |
M547K |
possibly damaging |
Het |
| Zbp1 |
A |
G |
2: 173,051,006 (GRCm39) |
F288S |
probably damaging |
Het |
| Zc3h11a |
T |
A |
1: 133,568,436 (GRCm39) |
Q71L |
probably damaging |
Het |
| Zfp40 |
G |
A |
17: 23,396,008 (GRCm39) |
T193I |
possibly damaging |
Het |
| Zfp607a |
T |
C |
7: 27,578,078 (GRCm39) |
Y383H |
probably benign |
Het |
| Zfp622 |
T |
A |
15: 25,987,128 (GRCm39) |
Y82* |
probably null |
Het |
| Zfp964 |
T |
C |
8: 70,116,665 (GRCm39) |
F422L |
probably benign |
Het |
|
| Other mutations in Carmil1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Carmil1
|
APN |
13 |
24,295,821 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL00392:Carmil1
|
APN |
13 |
24,278,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00943:Carmil1
|
APN |
13 |
24,295,869 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01375:Carmil1
|
APN |
13 |
24,278,454 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02043:Carmil1
|
APN |
13 |
24,208,299 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02122:Carmil1
|
APN |
13 |
24,220,541 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02178:Carmil1
|
APN |
13 |
24,278,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02264:Carmil1
|
APN |
13 |
24,259,699 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02269:Carmil1
|
APN |
13 |
24,339,393 (GRCm39) |
nonsense |
probably null |
|
|
IGL02546:Carmil1
|
APN |
13 |
24,299,482 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02740:Carmil1
|
APN |
13 |
24,278,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02876:Carmil1
|
APN |
13 |
24,338,651 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02976:Carmil1
|
APN |
13 |
24,276,534 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03012:Carmil1
|
APN |
13 |
24,220,355 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03107:Carmil1
|
APN |
13 |
24,278,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
H8562:Carmil1
|
UTSW |
13 |
24,248,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0085:Carmil1
|
UTSW |
13 |
24,209,850 (GRCm39) |
missense |
probably benign |
|
|
R0119:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0166:Carmil1
|
UTSW |
13 |
24,283,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0299:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0304:Carmil1
|
UTSW |
13 |
24,323,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0335:Carmil1
|
UTSW |
13 |
24,257,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0369:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0462:Carmil1
|
UTSW |
13 |
24,206,494 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1203:Carmil1
|
UTSW |
13 |
24,282,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Carmil1
|
UTSW |
13 |
24,283,037 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1730:Carmil1
|
UTSW |
13 |
24,225,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Carmil1
|
UTSW |
13 |
24,357,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Carmil1
|
UTSW |
13 |
24,348,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1893:Carmil1
|
UTSW |
13 |
24,208,446 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2099:Carmil1
|
UTSW |
13 |
24,357,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2153:Carmil1
|
UTSW |
13 |
24,325,656 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2296:Carmil1
|
UTSW |
13 |
24,299,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Carmil1
|
UTSW |
13 |
24,229,051 (GRCm39) |
synonymous |
silent |
|
|
R2872:Carmil1
|
UTSW |
13 |
24,229,051 (GRCm39) |
synonymous |
silent |
|
|
R3113:Carmil1
|
UTSW |
13 |
24,253,740 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3508:Carmil1
|
UTSW |
13 |
24,203,659 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3780:Carmil1
|
UTSW |
13 |
24,321,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3954:Carmil1
|
UTSW |
13 |
24,197,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4027:Carmil1
|
UTSW |
13 |
24,251,206 (GRCm39) |
splice site |
probably benign |
|
|
R4086:Carmil1
|
UTSW |
13 |
24,208,444 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4647:Carmil1
|
UTSW |
13 |
24,321,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Carmil1
|
UTSW |
13 |
24,251,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5012:Carmil1
|
UTSW |
13 |
24,208,403 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5166:Carmil1
|
UTSW |
13 |
24,338,966 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5199:Carmil1
|
UTSW |
13 |
24,295,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Carmil1
|
UTSW |
13 |
24,209,929 (GRCm39) |
splice site |
probably null |
|
|
R5472:Carmil1
|
UTSW |
13 |
24,339,454 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5478:Carmil1
|
UTSW |
13 |
24,296,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5496:Carmil1
|
UTSW |
13 |
24,339,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Carmil1
|
UTSW |
13 |
24,460,520 (GRCm39) |
missense |
probably benign |
|
|
R5789:Carmil1
|
UTSW |
13 |
24,305,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5794:Carmil1
|
UTSW |
13 |
24,276,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Carmil1
|
UTSW |
13 |
24,253,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Carmil1
|
UTSW |
13 |
24,220,335 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6128:Carmil1
|
UTSW |
13 |
24,197,177 (GRCm39) |
nonsense |
probably null |
|
|
R6403:Carmil1
|
UTSW |
13 |
24,265,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Carmil1
|
UTSW |
13 |
24,220,547 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6451:Carmil1
|
UTSW |
13 |
24,276,541 (GRCm39) |
nonsense |
probably null |
|
|
R6684:Carmil1
|
UTSW |
13 |
24,206,525 (GRCm39) |
missense |
unknown |
|
|
R6891:Carmil1
|
UTSW |
13 |
24,325,706 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6902:Carmil1
|
UTSW |
13 |
24,299,528 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6924:Carmil1
|
UTSW |
13 |
24,259,667 (GRCm39) |
nonsense |
probably null |
|
|
R6946:Carmil1
|
UTSW |
13 |
24,299,528 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7038:Carmil1
|
UTSW |
13 |
24,323,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Carmil1
|
UTSW |
13 |
24,204,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7282:Carmil1
|
UTSW |
13 |
24,197,387 (GRCm39) |
missense |
probably benign |
|
|
R7286:Carmil1
|
UTSW |
13 |
24,197,377 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7397:Carmil1
|
UTSW |
13 |
24,228,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7412:Carmil1
|
UTSW |
13 |
24,282,793 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7611:Carmil1
|
UTSW |
13 |
24,197,315 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7642:Carmil1
|
UTSW |
13 |
24,251,189 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7827:Carmil1
|
UTSW |
13 |
24,220,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7890:Carmil1
|
UTSW |
13 |
24,197,215 (GRCm39) |
missense |
|
|
|
R8014:Carmil1
|
UTSW |
13 |
24,220,304 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8068:Carmil1
|
UTSW |
13 |
24,259,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8214:Carmil1
|
UTSW |
13 |
24,228,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8247:Carmil1
|
UTSW |
13 |
24,282,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Carmil1
|
UTSW |
13 |
24,220,562 (GRCm39) |
missense |
probably benign |
|
|
R8318:Carmil1
|
UTSW |
13 |
24,220,442 (GRCm39) |
missense |
probably benign |
|
|
R8361:Carmil1
|
UTSW |
13 |
24,251,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8469:Carmil1
|
UTSW |
13 |
24,296,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Carmil1
|
UTSW |
13 |
24,209,863 (GRCm39) |
missense |
probably benign |
|
|
R8698:Carmil1
|
UTSW |
13 |
24,220,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8722:Carmil1
|
UTSW |
13 |
24,220,568 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8836:Carmil1
|
UTSW |
13 |
24,339,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Carmil1
|
UTSW |
13 |
24,325,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8931:Carmil1
|
UTSW |
13 |
24,338,704 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8932:Carmil1
|
UTSW |
13 |
24,197,179 (GRCm39) |
missense |
|
|
|
R9004:Carmil1
|
UTSW |
13 |
24,225,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9041:Carmil1
|
UTSW |
13 |
24,282,793 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9103:Carmil1
|
UTSW |
13 |
24,295,836 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9224:Carmil1
|
UTSW |
13 |
24,292,512 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9428:Carmil1
|
UTSW |
13 |
24,295,834 (GRCm39) |
nonsense |
probably null |
|
|
R9460:Carmil1
|
UTSW |
13 |
24,253,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Carmil1
|
UTSW |
13 |
24,323,357 (GRCm39) |
missense |
probably benign |
|
|
R9548:Carmil1
|
UTSW |
13 |
24,460,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Carmil1
|
UTSW |
13 |
24,283,026 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1088:Carmil1
|
UTSW |
13 |
24,228,165 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAACTTCACACAGTGCTATG -3'
(R):5'- TTGAGGCACGCATGTCCATG -3'
Sequencing Primer
(F):5'- AACTTCACACAGTGCTATGCTTATC -3'
(R):5'- CAAGGCTGATCTTGAACTCCTGG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation