Incidental Mutation 'R0304:Carmil1'
| ID |
37786 |
| 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 |
038515-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0304 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24196327-24464778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24323324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 243
(S243G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072889]
[ENSMUST00000110398]
|
| AlphaFold |
Q6EDY6 |
| PDB Structure |
Solution structure of the CARMIL CAH3a/b domain bound to capping protein (CP) [SOLUTION NMR]
Crystal structure of Actin Capping Protein in complex with the Cp-binding motif derived from CARMIL [X-RAY DIFFRACTION]
Crystal structure of Actin capping protein in complex with CARMIL fragment [X-RAY DIFFRACTION]
Crystal Structure of mouse CARMIL residues 1-668 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072889
AA Change: S243G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: S243G
| 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: S243G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: S243G
| 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 |
0.0617 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (95/97) |
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
C |
T |
4: 144,246,619 (GRCm39) |
T55I |
probably benign |
Het |
| Acod1 |
T |
A |
14: 103,292,418 (GRCm39) |
I314N |
probably damaging |
Het |
| Actl11 |
T |
A |
9: 107,806,967 (GRCm39) |
V430E |
probably damaging |
Het |
| Adam19 |
A |
C |
11: 46,018,219 (GRCm39) |
D427A |
possibly damaging |
Het |
| Adarb2 |
C |
T |
13: 8,802,606 (GRCm39) |
|
probably benign |
Het |
| Akap7 |
A |
T |
10: 25,147,450 (GRCm39) |
H93Q |
probably damaging |
Het |
| Ankrd36 |
C |
A |
11: 5,578,981 (GRCm39) |
R82S |
possibly damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,864,612 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
A |
9: 53,427,644 (GRCm39) |
I489F |
probably benign |
Het |
| Cdc42bpg |
T |
C |
19: 6,367,278 (GRCm39) |
V939A |
probably damaging |
Het |
| Cel |
A |
C |
2: 28,447,783 (GRCm39) |
L377R |
probably benign |
Het |
| Clock |
A |
G |
5: 76,374,832 (GRCm39) |
V779A |
unknown |
Het |
| Cluap1 |
G |
A |
16: 3,747,782 (GRCm39) |
|
probably benign |
Het |
| Ctif |
A |
T |
18: 75,654,889 (GRCm39) |
H212Q |
probably benign |
Het |
| Cyp4a29 |
T |
A |
4: 115,110,129 (GRCm39) |
|
probably benign |
Het |
| Cytip |
T |
C |
2: 58,038,258 (GRCm39) |
N101S |
possibly damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,048,798 (GRCm39) |
M434T |
probably benign |
Het |
| Ddx47 |
A |
G |
6: 134,994,183 (GRCm39) |
I154V |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,136,098 (GRCm39) |
E1014K |
probably damaging |
Het |
| Dnajc27 |
T |
G |
12: 4,156,793 (GRCm39) |
|
probably benign |
Het |
| Drc7 |
A |
T |
8: 95,785,756 (GRCm39) |
D204V |
probably damaging |
Het |
| Dsc3 |
A |
G |
18: 20,114,298 (GRCm39) |
Y319H |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,727,441 (GRCm39) |
Q1227R |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,741,202 (GRCm39) |
D365E |
probably benign |
Het |
| Ercc2 |
T |
C |
7: 19,120,633 (GRCm39) |
I199T |
possibly damaging |
Het |
| Exd2 |
G |
A |
12: 80,538,014 (GRCm39) |
|
probably benign |
Het |
| F2 |
A |
T |
2: 91,463,578 (GRCm39) |
I128N |
probably damaging |
Het |
| Fam219b |
T |
C |
9: 57,446,159 (GRCm39) |
L123P |
probably damaging |
Het |
| Fasn |
A |
G |
11: 120,710,762 (GRCm39) |
V299A |
possibly damaging |
Het |
| Fastkd2 |
T |
C |
1: 63,791,559 (GRCm39) |
V689A |
possibly damaging |
Het |
| Fbxw13 |
C |
T |
9: 109,023,789 (GRCm39) |
R85Q |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,462,411 (GRCm39) |
Y822C |
probably benign |
Het |
| Fhl5 |
T |
C |
4: 25,207,241 (GRCm39) |
T176A |
probably benign |
Het |
| Gm20530 |
T |
G |
17: 36,405,118 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4787 |
A |
T |
12: 81,425,708 (GRCm39) |
I150N |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,911,376 (GRCm39) |
S618N |
probably benign |
Het |
| Hdac9 |
T |
C |
12: 34,424,110 (GRCm39) |
K454E |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,019,353 (GRCm39) |
I978F |
possibly damaging |
Het |
| Icosl |
A |
G |
10: 77,911,156 (GRCm39) |
Y299C |
probably benign |
Het |
| Idi1 |
T |
C |
13: 8,940,393 (GRCm39) |
Y192H |
probably damaging |
Het |
| Iqub |
T |
G |
6: 24,454,290 (GRCm39) |
Q531P |
probably damaging |
Het |
| Itih4 |
T |
A |
14: 30,612,051 (GRCm39) |
|
probably null |
Het |
| Izumo4 |
A |
T |
10: 80,538,770 (GRCm39) |
H71L |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,673,325 (GRCm39) |
E362D |
possibly damaging |
Het |
| Kif21a |
G |
T |
15: 90,860,724 (GRCm39) |
|
probably null |
Het |
| Kynu |
A |
T |
2: 43,569,893 (GRCm39) |
I392F |
probably damaging |
Het |
| Luc7l2 |
A |
G |
6: 38,569,711 (GRCm39) |
E223G |
probably damaging |
Het |
| Map3k8 |
A |
C |
18: 4,339,552 (GRCm39) |
L273R |
probably damaging |
Het |
| Max |
A |
G |
12: 76,985,361 (GRCm39) |
L119P |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,436,892 (GRCm39) |
N484S |
probably benign |
Het |
| Mrgprg |
A |
G |
7: 143,318,792 (GRCm39) |
Y107H |
probably damaging |
Het |
| Mrps31 |
A |
T |
8: 22,911,354 (GRCm39) |
I199F |
probably benign |
Het |
| Mtr |
C |
G |
13: 12,237,040 (GRCm39) |
|
probably null |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,519,222 (GRCm39) |
D130G |
probably damaging |
Het |
| Nptx2 |
A |
G |
5: 144,490,460 (GRCm39) |
|
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,595 (GRCm39) |
Q654R |
possibly damaging |
Het |
| Ocm |
A |
G |
5: 143,961,352 (GRCm39) |
F30L |
probably damaging |
Het |
| Oosp1 |
T |
C |
19: 11,668,333 (GRCm39) |
M17V |
probably benign |
Het |
| Or14c45 |
C |
T |
7: 86,176,195 (GRCm39) |
P77S |
probably damaging |
Het |
| Or4c111 |
G |
A |
2: 88,843,632 (GRCm39) |
R259W |
probably damaging |
Het |
| Or4c118 |
A |
C |
2: 88,975,108 (GRCm39) |
Y86* |
probably null |
Het |
| Or52ad1 |
G |
T |
7: 102,995,918 (GRCm39) |
D72E |
probably damaging |
Het |
| Pax1 |
A |
T |
2: 147,208,067 (GRCm39) |
Y225F |
probably benign |
Het |
| Pde4dip |
T |
A |
3: 97,751,028 (GRCm39) |
H62L |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,804,920 (GRCm39) |
Q3190K |
probably damaging |
Het |
| Pkn1 |
A |
C |
8: 84,410,236 (GRCm39) |
|
probably benign |
Het |
| Plin5 |
T |
C |
17: 56,422,597 (GRCm39) |
D113G |
probably damaging |
Het |
| Ppfia1 |
A |
G |
7: 144,036,082 (GRCm39) |
V1141A |
probably damaging |
Het |
| Ppp4r1 |
T |
A |
17: 66,123,001 (GRCm39) |
D334E |
probably benign |
Het |
| Ptov1 |
A |
T |
7: 44,512,873 (GRCm39) |
|
probably null |
Het |
| Rab22a |
G |
A |
2: 173,503,252 (GRCm39) |
V22M |
probably damaging |
Het |
| Rictor |
T |
A |
15: 6,815,852 (GRCm39) |
|
probably null |
Het |
| Sart1 |
G |
T |
19: 5,430,559 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
G |
A |
9: 119,648,928 (GRCm39) |
A45V |
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,069,459 (GRCm39) |
T224A |
possibly damaging |
Het |
| Siglecf |
G |
T |
7: 43,001,825 (GRCm39) |
G212C |
probably damaging |
Het |
| Slc38a4 |
A |
T |
15: 96,906,335 (GRCm39) |
M378K |
probably damaging |
Het |
| Spata22 |
T |
A |
11: 73,231,275 (GRCm39) |
C176* |
probably null |
Het |
| Tmc3 |
G |
A |
7: 83,245,347 (GRCm39) |
E131K |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,046,594 (GRCm39) |
|
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,537,180 (GRCm39) |
F672L |
probably benign |
Het |
| Vmn1r121 |
A |
G |
7: 20,832,332 (GRCm39) |
V36A |
possibly damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,611 (GRCm39) |
M257L |
probably benign |
Het |
| Vmn1r58 |
C |
T |
7: 5,413,495 (GRCm39) |
C245Y |
probably damaging |
Het |
| Vmn1r86 |
C |
A |
7: 12,836,707 (GRCm39) |
M56I |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,942,299 (GRCm39) |
Y1051C |
probably benign |
Het |
| Xpnpep3 |
A |
G |
15: 81,314,915 (GRCm39) |
D205G |
probably damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,775,611 (GRCm39) |
|
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,578,637 (GRCm39) |
D569V |
possibly damaging |
Het |
| Zfp609 |
C |
T |
9: 65,608,470 (GRCm39) |
E1137K |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,993,408 (GRCm39) |
Y589C |
probably damaging |
Het |
| Zzef1 |
A |
T |
11: 72,771,450 (GRCm39) |
D1644V |
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 |
|
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 |
24,325,659 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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'- CACCATGTCTTCCATGCCAGAATCC -3'
(R):5'- GGCTGAGTGTTTTCATCTCCTCAGG -3'
Sequencing Primer
(F):5'- actaacccttcctcccctaac -3'
(R):5'- ATCTCCTCAGGTCTCTGTGTTATG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation