Incidental Mutation 'R5330:Carmil1'
| ID |
423178 |
| 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 |
042912-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24196327-24464778 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 24209929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072889]
[ENSMUST00000110398]
[ENSMUST00000110398]
[ENSMUST00000125901]
|
| AlphaFold |
Q6EDY6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072889
|
| SMART Domains |
Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
| 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 |
probably null
Transcript: ENSMUST00000110398
|
| SMART Domains |
Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
| 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 |
probably null
Transcript: ENSMUST00000110398
|
| SMART Domains |
Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
| 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 |
probably benign
Transcript: ENSMUST00000125901
|
| SMART Domains |
Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
99% (95/96) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A2m |
A |
G |
6: 121,615,375 (GRCm39) |
D83G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,102,600 (GRCm39) |
I833N |
probably benign |
Het |
| Adam6b |
C |
A |
12: 113,454,200 (GRCm39) |
P339H |
possibly damaging |
Het |
| Adgrb2 |
A |
T |
4: 129,915,995 (GRCm39) |
H1505L |
possibly damaging |
Het |
| Aktip |
A |
T |
8: 91,853,352 (GRCm39) |
F122I |
probably damaging |
Het |
| Ankrd27 |
T |
A |
7: 35,315,351 (GRCm39) |
L500* |
probably null |
Het |
| Blm |
T |
C |
7: 80,108,684 (GRCm39) |
E55G |
possibly damaging |
Het |
| Cdca7 |
T |
C |
2: 72,315,042 (GRCm39) |
C311R |
probably damaging |
Het |
| Cds1 |
T |
C |
5: 101,946,361 (GRCm39) |
S187P |
probably damaging |
Het |
| Chuk |
A |
T |
19: 44,067,394 (GRCm39) |
V587E |
probably damaging |
Het |
| Commd10 |
T |
C |
18: 47,093,497 (GRCm39) |
V19A |
probably damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,332,261 (GRCm39) |
T48I |
probably damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,613,414 (GRCm39) |
Y203* |
probably null |
Het |
| Dchs1 |
A |
T |
7: 105,403,809 (GRCm39) |
V2911E |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,495,787 (GRCm39) |
E1472K |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,542,871 (GRCm39) |
T3514A |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,051,573 (GRCm39) |
I3074F |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Elp1 |
T |
C |
4: 56,800,001 (GRCm39) |
T42A |
probably benign |
Het |
| Fam131c |
A |
T |
4: 141,110,141 (GRCm39) |
T180S |
probably benign |
Het |
| Fbxo41 |
T |
C |
6: 85,456,888 (GRCm39) |
E427G |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,082,583 (GRCm39) |
K236E |
possibly damaging |
Het |
| Gm10152 |
A |
T |
7: 144,317,283 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10313 |
T |
A |
8: 46,708,490 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5414 |
C |
A |
15: 101,533,099 (GRCm39) |
V443F |
probably damaging |
Het |
| Gm7334 |
T |
C |
17: 51,006,160 (GRCm39) |
S149P |
possibly damaging |
Het |
| Grik2 |
G |
A |
10: 49,008,867 (GRCm39) |
T740M |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,088,180 (GRCm39) |
Y930C |
probably damaging |
Het |
| Hepacam2 |
T |
C |
6: 3,483,377 (GRCm39) |
T211A |
probably benign |
Het |
| Herc4 |
G |
T |
10: 63,143,578 (GRCm39) |
E703* |
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,007,164 (GRCm39) |
K1254R |
probably damaging |
Het |
| Hras |
T |
C |
7: 140,772,853 (GRCm39) |
M1V |
probably null |
Het |
| Il23r |
T |
G |
6: 67,400,479 (GRCm39) |
Q617P |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,388,693 (GRCm39) |
T789A |
probably damaging |
Het |
| Kcnj12 |
A |
G |
11: 60,961,012 (GRCm39) |
K437E |
probably benign |
Het |
| Lct |
A |
T |
1: 128,226,266 (GRCm39) |
D1374E |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,494,707 (GRCm39) |
C104* |
probably null |
Het |
| Lurap1 |
G |
A |
4: 116,001,601 (GRCm39) |
L31F |
probably damaging |
Het |
| Mark4 |
G |
A |
7: 19,170,908 (GRCm39) |
P321S |
probably damaging |
Het |
| Med18 |
A |
G |
4: 132,190,377 (GRCm39) |
|
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,142,598 (GRCm39) |
S5G |
probably benign |
Het |
| Mrgprb3 |
T |
C |
7: 48,292,682 (GRCm39) |
T290A |
possibly damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,069,222 (GRCm39) |
|
probably benign |
Het |
| Negr1 |
A |
T |
3: 156,774,913 (GRCm39) |
K210* |
probably null |
Het |
| Nktr |
T |
C |
9: 121,581,834 (GRCm39) |
|
probably benign |
Het |
| Nob1 |
T |
G |
8: 108,142,881 (GRCm39) |
T267P |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,574,902 (GRCm39) |
E307G |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,540,111 (GRCm39) |
T796A |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,963,859 (GRCm39) |
L1148I |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,770,486 (GRCm39) |
V988E |
probably damaging |
Het |
| Pcdha4 |
G |
A |
18: 37,087,755 (GRCm39) |
R646H |
probably benign |
Het |
| Per3 |
G |
T |
4: 151,125,759 (GRCm39) |
L187I |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,660,667 (GRCm39) |
D774G |
probably damaging |
Het |
| Pibf1 |
T |
C |
14: 99,378,082 (GRCm39) |
Y403H |
probably damaging |
Het |
| Plcl2 |
G |
A |
17: 50,816,876 (GRCm39) |
A81T |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,638,101 (GRCm39) |
N123D |
probably benign |
Het |
| Psma5 |
T |
G |
3: 108,175,386 (GRCm39) |
V146G |
possibly damaging |
Het |
| Ptprk |
A |
T |
10: 28,463,076 (GRCm39) |
D189V |
probably damaging |
Het |
| Relb |
C |
T |
7: 19,340,630 (GRCm39) |
G509S |
possibly damaging |
Het |
| Rgs11 |
A |
T |
17: 26,421,947 (GRCm39) |
M1L |
probably benign |
Het |
| Rhbg |
T |
A |
3: 88,152,775 (GRCm39) |
T313S |
probably benign |
Het |
| Ripply2 |
T |
A |
9: 86,897,691 (GRCm39) |
|
probably benign |
Het |
| Scap |
T |
C |
9: 110,210,701 (GRCm39) |
V1011A |
probably benign |
Het |
| Scarf1 |
G |
A |
11: 75,406,406 (GRCm39) |
G230D |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,343,351 (GRCm39) |
Y314N |
possibly damaging |
Het |
| Slc17a8 |
A |
G |
10: 89,425,356 (GRCm39) |
|
probably null |
Het |
| Slc22a14 |
A |
T |
9: 119,059,662 (GRCm39) |
L153Q |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,856,820 (GRCm39) |
I406T |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,730,190 (GRCm39) |
D355G |
probably benign |
Het |
| Snta1 |
C |
A |
2: 154,219,940 (GRCm39) |
E403* |
probably null |
Het |
| Socs7 |
A |
G |
11: 97,268,852 (GRCm39) |
D382G |
possibly damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,848,217 (GRCm39) |
C1304S |
possibly damaging |
Het |
| Srebf2 |
T |
A |
15: 82,080,409 (GRCm39) |
I834N |
possibly damaging |
Het |
| Steap1 |
G |
T |
5: 5,790,422 (GRCm39) |
H175Q |
probably damaging |
Het |
| Sult2a8 |
T |
C |
7: 14,147,679 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,335,258 (GRCm39) |
S524P |
probably damaging |
Het |
| Tbc1d9b |
C |
T |
11: 50,037,140 (GRCm39) |
A263V |
probably benign |
Het |
| Tecta |
A |
C |
9: 42,249,152 (GRCm39) |
D1903E |
probably damaging |
Het |
| Tmem222 |
A |
C |
4: 133,004,935 (GRCm39) |
M34R |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,596,167 (GRCm39) |
T187A |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,773,604 (GRCm39) |
Y253H |
probably damaging |
Het |
| Trpv5 |
G |
A |
6: 41,637,266 (GRCm39) |
R358C |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,910,257 (GRCm39) |
V800A |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,578 (GRCm39) |
G2613E |
probably benign |
Het |
| Vmn2r58 |
G |
A |
7: 41,513,384 (GRCm39) |
Q420* |
probably null |
Het |
| Zranb3 |
G |
A |
1: 127,887,457 (GRCm39) |
P990L |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,993,912 (GRCm39) |
D748V |
probably 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 |
|
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 |
|
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'- GGGAGAACGCTTTTCCATTTG -3'
(R):5'- CTTAGACGGCAAACCTGGAATCC -3'
Sequencing Primer
(F):5'- GTATTCTTCCAGTTACAGGTGAGTCC -3'
(R):5'- AGTGCAGGAGCCATTATC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation