Incidental Mutation 'R1893:Carmil1'
ID |
211733 |
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 |
039913-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1893 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
24196327-24464778 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24208446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 833
(E833G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072889]
[ENSMUST00000110398]
[ENSMUST00000125901]
|
AlphaFold |
Q6EDY6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072889
AA Change: E1237G
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000072662 Gene: ENSMUSG00000021338 AA Change: E1237G
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: E1233G
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106028 Gene: ENSMUSG00000021338 AA Change: E1233G
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 |
possibly damaging
Transcript: ENSMUST00000125901
AA Change: E833G
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126522 Gene: ENSMUSG00000021338 AA Change: E833G
Domain | Start | End | E-Value | Type |
Blast:LRR
|
13 |
40 |
5e-8 |
BLAST |
Blast:LRR
|
41 |
74 |
4e-9 |
BLAST |
Pfam:LRR_6
|
75 |
101 |
4.4e-2 |
PFAM |
Pfam:LRR_6
|
164 |
187 |
1.6e-3 |
PFAM |
Blast:LRR
|
192 |
219 |
7e-10 |
BLAST |
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
low complexity region
|
473 |
482 |
N/A |
INTRINSIC |
PDB:3LK3|T
|
564 |
676 |
4e-57 |
PDB |
low complexity region
|
727 |
743 |
N/A |
INTRINSIC |
low complexity region
|
841 |
847 |
N/A |
INTRINSIC |
low complexity region
|
849 |
864 |
N/A |
INTRINSIC |
low complexity region
|
883 |
892 |
N/A |
INTRINSIC |
low complexity region
|
913 |
925 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151566
|
SMART Domains |
Protein: ENSMUSP00000120971 Gene: ENSMUSG00000021338
Domain | Start | End | E-Value | Type |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0744 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.0%
|
Validation Efficiency |
99% (99/100) |
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 |
2210408I21Rik |
T |
C |
13: 77,415,928 (GRCm39) |
Y674H |
possibly damaging |
Het |
Aars2 |
G |
A |
17: 45,825,725 (GRCm39) |
R347Q |
probably benign |
Het |
Abca15 |
A |
T |
7: 119,939,776 (GRCm39) |
M293L |
possibly damaging |
Het |
Abcb7 |
A |
T |
X: 103,386,142 (GRCm39) |
H97Q |
probably damaging |
Het |
Aldh1l2 |
G |
T |
10: 83,328,400 (GRCm39) |
N772K |
probably damaging |
Het |
Ascc2 |
T |
A |
11: 4,622,305 (GRCm39) |
L457Q |
probably benign |
Het |
Aspm |
T |
A |
1: 139,407,605 (GRCm39) |
I2164N |
probably damaging |
Het |
Cabs1 |
A |
G |
5: 88,127,894 (GRCm39) |
T182A |
probably benign |
Het |
Ccdc102a |
G |
A |
8: 95,640,171 (GRCm39) |
T41M |
probably damaging |
Het |
Cimap1c |
A |
G |
9: 56,756,498 (GRCm39) |
Y173H |
probably benign |
Het |
Clec2h |
T |
C |
6: 128,647,795 (GRCm39) |
V48A |
probably benign |
Het |
Cpb2 |
G |
A |
14: 75,493,403 (GRCm39) |
V27I |
probably benign |
Het |
Cr2 |
T |
C |
1: 194,837,495 (GRCm39) |
H1201R |
probably benign |
Het |
Cyp2d9 |
T |
C |
15: 82,336,807 (GRCm39) |
V52A |
probably damaging |
Het |
Cyp4a12a |
C |
A |
4: 115,183,864 (GRCm39) |
N223K |
probably benign |
Het |
Cyp7b1 |
G |
A |
3: 18,150,731 (GRCm39) |
S336L |
possibly damaging |
Het |
Dnah10 |
T |
C |
5: 124,831,381 (GRCm39) |
V803A |
probably benign |
Het |
Dnah17 |
T |
A |
11: 117,957,794 (GRCm39) |
T2745S |
probably benign |
Het |
Ep300 |
T |
A |
15: 81,515,847 (GRCm39) |
|
probably benign |
Het |
Epha3 |
A |
G |
16: 63,388,762 (GRCm39) |
S829P |
probably damaging |
Het |
Fads3 |
C |
A |
19: 10,033,868 (GRCm39) |
H418N |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,476,893 (GRCm39) |
S1980P |
probably damaging |
Het |
Fgf20 |
T |
C |
8: 40,732,844 (GRCm39) |
E198G |
possibly damaging |
Het |
Fgl2 |
G |
A |
5: 21,580,669 (GRCm39) |
R337H |
probably benign |
Het |
Gbp2 |
G |
T |
3: 142,335,933 (GRCm39) |
|
probably benign |
Het |
Gja10 |
G |
A |
4: 32,601,541 (GRCm39) |
S281L |
probably benign |
Het |
Gm5422 |
G |
A |
10: 31,125,609 (GRCm39) |
|
noncoding transcript |
Het |
Gmpr |
T |
A |
13: 45,674,423 (GRCm39) |
D129E |
possibly damaging |
Het |
Gtf3c4 |
C |
T |
2: 28,724,374 (GRCm39) |
V453I |
possibly damaging |
Het |
Heatr6 |
T |
C |
11: 83,648,140 (GRCm39) |
V111A |
probably benign |
Het |
Hipk3 |
G |
A |
2: 104,263,601 (GRCm39) |
R905W |
probably damaging |
Het |
Hpn |
T |
A |
7: 30,798,773 (GRCm39) |
D103V |
probably damaging |
Het |
Ipcef1 |
G |
A |
10: 6,850,680 (GRCm39) |
R304W |
probably damaging |
Het |
Iqcb1 |
A |
G |
16: 36,652,245 (GRCm39) |
D52G |
probably damaging |
Het |
Klhdc7b |
C |
T |
15: 89,271,898 (GRCm39) |
|
probably null |
Het |
Klhl1 |
A |
T |
14: 96,477,642 (GRCm39) |
|
probably null |
Het |
Lrrn1 |
A |
T |
6: 107,545,083 (GRCm39) |
I294F |
possibly damaging |
Het |
Map3k1 |
A |
T |
13: 111,904,567 (GRCm39) |
F406I |
possibly damaging |
Het |
Map4k4 |
T |
A |
1: 40,040,717 (GRCm39) |
V579E |
probably benign |
Het |
Mapre2 |
A |
G |
18: 23,986,774 (GRCm39) |
K62R |
probably damaging |
Het |
Mdga1 |
A |
T |
17: 30,068,200 (GRCm39) |
Y305N |
probably damaging |
Het |
Mgl2 |
T |
A |
11: 70,024,993 (GRCm39) |
|
probably null |
Het |
Mnx1 |
C |
T |
5: 29,682,828 (GRCm39) |
G149D |
unknown |
Het |
Mtbp |
T |
A |
15: 55,421,064 (GRCm39) |
S17T |
probably benign |
Het |
Neu3 |
T |
C |
7: 99,472,627 (GRCm39) |
T37A |
possibly damaging |
Het |
Nr1i3 |
T |
C |
1: 171,044,792 (GRCm39) |
|
probably null |
Het |
Or10al2 |
A |
T |
17: 37,983,747 (GRCm39) |
K278* |
probably null |
Het |
Or10g6 |
A |
T |
9: 39,934,270 (GRCm39) |
I194F |
possibly damaging |
Het |
Or6ae1 |
T |
C |
7: 139,742,734 (GRCm39) |
N43S |
probably damaging |
Het |
Or9s18 |
T |
A |
13: 65,300,806 (GRCm39) |
M256K |
possibly damaging |
Het |
Osr2 |
A |
G |
15: 35,300,608 (GRCm39) |
T55A |
possibly damaging |
Het |
Palld |
A |
G |
8: 61,969,655 (GRCm39) |
V981A |
probably damaging |
Het |
Pbx1 |
A |
T |
1: 168,030,979 (GRCm39) |
M213K |
possibly damaging |
Het |
Pcdhb12 |
C |
A |
18: 37,570,136 (GRCm39) |
H427Q |
probably benign |
Het |
Perm1 |
C |
T |
4: 156,302,340 (GRCm39) |
R295C |
probably benign |
Het |
Phaf1 |
G |
T |
8: 105,973,133 (GRCm39) |
V248F |
probably damaging |
Het |
Polm |
T |
C |
11: 5,785,574 (GRCm39) |
T162A |
possibly damaging |
Het |
Prox1 |
A |
G |
1: 189,892,715 (GRCm39) |
|
probably benign |
Het |
Ptpn7 |
A |
T |
1: 135,062,641 (GRCm39) |
T127S |
probably benign |
Het |
Pxk |
C |
T |
14: 8,151,507 (GRCm38) |
R441* |
probably null |
Het |
Rab21 |
T |
C |
10: 115,126,805 (GRCm39) |
T181A |
probably benign |
Het |
Rab38 |
A |
T |
7: 88,139,924 (GRCm39) |
T198S |
probably benign |
Het |
Rnase4 |
C |
G |
14: 51,342,395 (GRCm39) |
Q40E |
possibly damaging |
Het |
Rnf213 |
T |
A |
11: 119,307,274 (GRCm39) |
W645R |
probably damaging |
Het |
Rnf8 |
A |
G |
17: 29,840,524 (GRCm39) |
I51M |
probably damaging |
Het |
Sbpl |
T |
A |
17: 24,172,241 (GRCm39) |
D226V |
unknown |
Het |
Sdf4 |
T |
G |
4: 156,085,205 (GRCm39) |
I180S |
probably benign |
Het |
Simc1 |
A |
G |
13: 54,687,528 (GRCm39) |
K99R |
probably damaging |
Het |
Slc2a4 |
T |
C |
11: 69,837,398 (GRCm39) |
Q49R |
probably damaging |
Het |
Slco1a4 |
T |
C |
6: 141,780,342 (GRCm39) |
|
probably null |
Het |
Slco5a1 |
C |
A |
1: 12,964,696 (GRCm39) |
C527F |
probably damaging |
Het |
Sox6 |
T |
A |
7: 115,143,803 (GRCm39) |
N405I |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,256,687 (GRCm39) |
P354L |
probably benign |
Het |
Spi1 |
A |
G |
2: 90,944,702 (GRCm39) |
D149G |
probably benign |
Het |
Sptan1 |
T |
A |
2: 29,910,472 (GRCm39) |
D1812E |
probably damaging |
Het |
Sub1 |
A |
T |
15: 11,991,130 (GRCm39) |
V37E |
possibly damaging |
Het |
Sult2a6 |
T |
C |
7: 13,959,814 (GRCm39) |
T240A |
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,227,055 (GRCm39) |
S1247G |
probably benign |
Het |
Taf4 |
T |
C |
2: 179,574,823 (GRCm39) |
D594G |
probably damaging |
Het |
Tap1 |
T |
G |
17: 34,413,915 (GRCm39) |
D643E |
probably damaging |
Het |
Ticam1 |
T |
C |
17: 56,578,894 (GRCm39) |
N67S |
probably benign |
Het |
Tlr6 |
A |
G |
5: 65,110,556 (GRCm39) |
F784L |
probably damaging |
Het |
Tmprss15 |
A |
G |
16: 78,868,306 (GRCm39) |
V202A |
probably benign |
Het |
Trp53bp2 |
T |
C |
1: 182,259,193 (GRCm39) |
V82A |
probably benign |
Het |
Ube2o |
C |
T |
11: 116,439,661 (GRCm39) |
V170I |
possibly damaging |
Het |
Ube2q2l |
A |
G |
6: 136,378,825 (GRCm39) |
S2P |
possibly damaging |
Het |
Vmn1r177 |
G |
A |
7: 23,565,573 (GRCm39) |
T101I |
probably benign |
Het |
Vmn2r68 |
A |
T |
7: 84,883,867 (GRCm39) |
Y79* |
probably null |
Het |
Wdr35 |
A |
C |
12: 9,035,994 (GRCm39) |
Y255S |
probably benign |
Het |
Zfp507 |
A |
T |
7: 35,502,052 (GRCm39) |
|
probably benign |
Het |
Zfp688 |
G |
A |
7: 127,018,409 (GRCm39) |
R239C |
probably damaging |
Het |
Zfp74 |
T |
A |
7: 29,635,470 (GRCm39) |
|
probably null |
Het |
Zfp932 |
A |
G |
5: 110,157,069 (GRCm39) |
N223D |
possibly damaging |
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 |
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'- GGTCCCAGGTCCTTTAGGTTTC -3'
(R):5'- AGCCTTTCACTAGCGTTTGAC -3'
Sequencing Primer
(F):5'- TGGTTACAGCCAGGCCACATC -3'
(R):5'- CTCTAAAAACCCACTGTTATGGATGC -3'
|
Posted On |
2014-06-30 |