Incidental Mutation 'R1482:Cachd1'
| ID |
164434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cachd1
|
| Ensembl Gene |
ENSMUSG00000028532 |
| Gene Name |
cache domain containing 1 |
| Synonyms |
Vwcd1, 1190007F10Rik, B430218L07Rik |
| MMRRC Submission |
039535-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
R1482 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
100633870-100861741 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100845795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 993
(V993A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030257]
[ENSMUST00000097955]
|
| AlphaFold |
Q6PDJ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030257
AA Change: V993A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: V993A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
103 |
218 |
9.4e-22 |
PFAM |
|
VWA
|
240 |
438 |
2.8e-1 |
SMART |
|
Pfam:Cache_1
|
467 |
543 |
2.4e-12 |
PFAM |
|
Pfam:Cache_1
|
786 |
871 |
1.5e-7 |
PFAM |
|
low complexity region
|
981 |
996 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1109 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1159 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1240 |
1246 |
N/A |
INTRINSIC |
|
low complexity region
|
1260 |
1274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097955
AA Change: V993A
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: V993A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
103 |
218 |
6.7e-32 |
PFAM |
|
VWA
|
240 |
438 |
2.8e-1 |
SMART |
|
Pfam:Cache_1
|
467 |
543 |
1.7e-12 |
PFAM |
|
low complexity region
|
801 |
818 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
996 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1109 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1159 |
1173 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.8%
- 20x: 83.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
G |
A |
19: 3,767,192 (GRCm39) |
D260N |
probably benign |
Het |
| Ankef1 |
A |
T |
2: 136,392,078 (GRCm39) |
K422N |
possibly damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Aqp6 |
A |
T |
15: 99,502,188 (GRCm39) |
*294C |
probably null |
Het |
| Baz2a |
T |
A |
10: 127,944,877 (GRCm39) |
M38K |
possibly damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,404,265 (GRCm39) |
D151G |
probably damaging |
Het |
| Cabp5 |
T |
A |
7: 13,132,267 (GRCm39) |
L12* |
probably null |
Het |
| Cd44 |
G |
A |
2: 102,661,728 (GRCm39) |
T306I |
probably damaging |
Het |
| Cdc20 |
A |
T |
4: 118,294,253 (GRCm39) |
N22K |
probably benign |
Het |
| Cdc6 |
T |
A |
11: 98,807,807 (GRCm39) |
D433E |
possibly damaging |
Het |
| Clhc1 |
A |
G |
11: 29,503,725 (GRCm39) |
D47G |
probably damaging |
Het |
| Csf2 |
T |
C |
11: 54,139,389 (GRCm39) |
K65E |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,819,473 (GRCm39) |
E2005G |
probably damaging |
Het |
| Dclk3 |
G |
T |
9: 111,296,888 (GRCm39) |
R144L |
possibly damaging |
Het |
| Dcpp2 |
C |
T |
17: 24,119,516 (GRCm39) |
T110I |
probably damaging |
Het |
| Disp1 |
A |
T |
1: 182,868,038 (GRCm39) |
F1461I |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 31,016,831 (GRCm39) |
G1562D |
probably damaging |
Het |
| Ecpas |
T |
C |
4: 58,820,163 (GRCm39) |
K1217E |
possibly damaging |
Het |
| Exoc3l2 |
C |
A |
7: 19,229,284 (GRCm39) |
P234Q |
probably damaging |
Het |
| F2rl2 |
T |
C |
13: 95,838,047 (GRCm39) |
V364A |
probably benign |
Het |
| Fam151a |
T |
C |
4: 106,602,876 (GRCm39) |
L265P |
probably damaging |
Het |
| Fam151b |
T |
A |
13: 92,586,674 (GRCm39) |
Q253L |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,406,281 (GRCm39) |
V1011M |
probably benign |
Het |
| Fbxo6 |
G |
A |
4: 148,230,441 (GRCm39) |
R274* |
probably null |
Het |
| Fgd4 |
G |
T |
16: 16,302,337 (GRCm39) |
Q73K |
probably benign |
Het |
| Fth1 |
A |
G |
19: 9,962,217 (GRCm39) |
T154A |
probably benign |
Het |
| Hgs |
C |
A |
11: 120,370,866 (GRCm39) |
H572Q |
probably benign |
Het |
| Kcnk10 |
G |
A |
12: 98,456,207 (GRCm39) |
T208I |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,552,635 (GRCm39) |
V1204M |
probably damaging |
Het |
| Keg1 |
A |
C |
19: 12,696,185 (GRCm39) |
H166P |
probably damaging |
Het |
| Kifap3 |
A |
T |
1: 163,653,428 (GRCm39) |
N338I |
possibly damaging |
Het |
| Llcfc1 |
A |
T |
6: 41,662,218 (GRCm39) |
D74V |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,499,218 (GRCm39) |
V219A |
possibly damaging |
Het |
| Mettl25 |
A |
G |
10: 105,662,451 (GRCm39) |
I173T |
possibly damaging |
Het |
| Mov10 |
G |
T |
3: 104,711,862 (GRCm39) |
P170Q |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,486,847 (GRCm39) |
A286S |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,963,997 (GRCm39) |
Y244C |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,987,414 (GRCm39) |
C359S |
probably damaging |
Het |
| Nbr1 |
C |
T |
11: 101,463,667 (GRCm39) |
T633I |
probably benign |
Het |
| Nepn |
A |
T |
10: 52,276,512 (GRCm39) |
T22S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,871,043 (GRCm39) |
L342M |
probably damaging |
Het |
| Or2ag17 |
A |
G |
7: 106,389,540 (GRCm39) |
F223L |
probably benign |
Het |
| Or52b2 |
T |
A |
7: 104,986,463 (GRCm39) |
R153S |
probably damaging |
Het |
| Or6c205 |
T |
A |
10: 129,087,012 (GRCm39) |
I203N |
possibly damaging |
Het |
| Or7e176 |
G |
A |
9: 20,172,020 (GRCm39) |
V295I |
possibly damaging |
Het |
| Oxnad1 |
T |
C |
14: 31,821,590 (GRCm39) |
|
probably null |
Het |
| Pard3b |
A |
T |
1: 62,205,526 (GRCm39) |
D440V |
probably damaging |
Het |
| Pou3f2 |
T |
G |
4: 22,486,960 (GRCm39) |
D391A |
possibly damaging |
Het |
| Ptprk |
T |
C |
10: 28,139,512 (GRCm39) |
V79A |
probably benign |
Het |
| Rwdd2a |
A |
G |
9: 86,456,331 (GRCm39) |
D169G |
probably damaging |
Het |
| Scn3b |
A |
C |
9: 40,190,792 (GRCm39) |
D74A |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 79,130,050 (GRCm39) |
D61N |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,053,004 (GRCm39) |
D2089E |
probably damaging |
Het |
| Vmn2r69 |
C |
G |
7: 85,056,082 (GRCm39) |
W685C |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,400,348 (GRCm39) |
Q1272R |
probably benign |
Het |
| Wnk4 |
T |
C |
11: 101,160,462 (GRCm39) |
F699L |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,974,803 (GRCm39) |
N448K |
possibly damaging |
Het |
| Zfp618 |
C |
A |
4: 63,033,685 (GRCm39) |
D307E |
possibly damaging |
Het |
| Zfp687 |
A |
G |
3: 94,914,844 (GRCm39) |
F1219S |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,687 (GRCm39) |
D248E |
probably damaging |
Het |
|
| Other mutations in Cachd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Cachd1
|
APN |
4 |
100,824,163 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01531:Cachd1
|
APN |
4 |
100,810,231 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01705:Cachd1
|
APN |
4 |
100,840,736 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01843:Cachd1
|
APN |
4 |
100,850,069 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01938:Cachd1
|
APN |
4 |
100,831,325 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02268:Cachd1
|
APN |
4 |
100,809,294 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02934:Cachd1
|
APN |
4 |
100,825,295 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03019:Cachd1
|
APN |
4 |
100,809,282 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03084:Cachd1
|
APN |
4 |
100,860,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0366:Cachd1
|
UTSW |
4 |
100,851,934 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0395:Cachd1
|
UTSW |
4 |
100,810,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0520:Cachd1
|
UTSW |
4 |
100,754,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0578:Cachd1
|
UTSW |
4 |
100,852,039 (GRCm39) |
splice site |
probably benign |
|
|
R0646:Cachd1
|
UTSW |
4 |
100,845,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Cachd1
|
UTSW |
4 |
100,832,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Cachd1
|
UTSW |
4 |
100,840,498 (GRCm39) |
splice site |
probably benign |
|
|
R1156:Cachd1
|
UTSW |
4 |
100,845,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1157:Cachd1
|
UTSW |
4 |
100,832,037 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1314:Cachd1
|
UTSW |
4 |
100,832,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1632:Cachd1
|
UTSW |
4 |
100,824,169 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1774:Cachd1
|
UTSW |
4 |
100,824,240 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1774:Cachd1
|
UTSW |
4 |
100,821,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Cachd1
|
UTSW |
4 |
100,634,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1869:Cachd1
|
UTSW |
4 |
100,840,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Cachd1
|
UTSW |
4 |
100,810,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2069:Cachd1
|
UTSW |
4 |
100,848,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Cachd1
|
UTSW |
4 |
100,860,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Cachd1
|
UTSW |
4 |
100,806,266 (GRCm39) |
splice site |
probably benign |
|
|
R2517:Cachd1
|
UTSW |
4 |
100,838,079 (GRCm39) |
splice site |
probably null |
|
|
R2896:Cachd1
|
UTSW |
4 |
100,828,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3729:Cachd1
|
UTSW |
4 |
100,832,077 (GRCm39) |
nonsense |
probably null |
|
|
R3818:Cachd1
|
UTSW |
4 |
100,848,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3979:Cachd1
|
UTSW |
4 |
100,828,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Cachd1
|
UTSW |
4 |
100,810,327 (GRCm39) |
nonsense |
probably null |
|
|
R4791:Cachd1
|
UTSW |
4 |
100,775,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Cachd1
|
UTSW |
4 |
100,851,935 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5147:Cachd1
|
UTSW |
4 |
100,821,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5187:Cachd1
|
UTSW |
4 |
100,823,397 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5322:Cachd1
|
UTSW |
4 |
100,809,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5335:Cachd1
|
UTSW |
4 |
100,825,282 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5390:Cachd1
|
UTSW |
4 |
100,838,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Cachd1
|
UTSW |
4 |
100,831,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5578:Cachd1
|
UTSW |
4 |
100,722,203 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5905:Cachd1
|
UTSW |
4 |
100,840,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6003:Cachd1
|
UTSW |
4 |
100,809,216 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6028:Cachd1
|
UTSW |
4 |
100,840,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6185:Cachd1
|
UTSW |
4 |
100,838,228 (GRCm39) |
nonsense |
probably null |
|
|
R6367:Cachd1
|
UTSW |
4 |
100,860,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Cachd1
|
UTSW |
4 |
100,809,315 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6591:Cachd1
|
UTSW |
4 |
100,846,683 (GRCm39) |
missense |
probably benign |
|
|
R6691:Cachd1
|
UTSW |
4 |
100,846,683 (GRCm39) |
missense |
probably benign |
|
|
R7129:Cachd1
|
UTSW |
4 |
100,775,263 (GRCm39) |
missense |
probably null |
0.99 |
|
R7187:Cachd1
|
UTSW |
4 |
100,833,552 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7387:Cachd1
|
UTSW |
4 |
100,634,375 (GRCm39) |
missense |
unknown |
|
|
R7833:Cachd1
|
UTSW |
4 |
100,832,012 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7835:Cachd1
|
UTSW |
4 |
100,831,350 (GRCm39) |
splice site |
probably null |
|
|
R7838:Cachd1
|
UTSW |
4 |
100,824,211 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7867:Cachd1
|
UTSW |
4 |
100,845,759 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7882:Cachd1
|
UTSW |
4 |
100,824,244 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7941:Cachd1
|
UTSW |
4 |
100,845,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7978:Cachd1
|
UTSW |
4 |
100,832,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Cachd1
|
UTSW |
4 |
100,845,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8153:Cachd1
|
UTSW |
4 |
100,845,835 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8174:Cachd1
|
UTSW |
4 |
100,823,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8219:Cachd1
|
UTSW |
4 |
100,848,159 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8358:Cachd1
|
UTSW |
4 |
100,816,668 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8376:Cachd1
|
UTSW |
4 |
100,832,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8686:Cachd1
|
UTSW |
4 |
100,845,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8747:Cachd1
|
UTSW |
4 |
100,860,045 (GRCm39) |
intron |
probably benign |
|
|
R8845:Cachd1
|
UTSW |
4 |
100,810,343 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8864:Cachd1
|
UTSW |
4 |
100,852,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8869:Cachd1
|
UTSW |
4 |
100,809,280 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8870:Cachd1
|
UTSW |
4 |
100,754,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8904:Cachd1
|
UTSW |
4 |
100,810,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8958:Cachd1
|
UTSW |
4 |
100,851,283 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9061:Cachd1
|
UTSW |
4 |
100,809,202 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9193:Cachd1
|
UTSW |
4 |
100,634,339 (GRCm39) |
missense |
unknown |
|
|
R9304:Cachd1
|
UTSW |
4 |
100,824,179 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9358:Cachd1
|
UTSW |
4 |
100,833,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9373:Cachd1
|
UTSW |
4 |
100,832,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9425:Cachd1
|
UTSW |
4 |
100,832,057 (GRCm39) |
missense |
probably benign |
|
|
R9632:Cachd1
|
UTSW |
4 |
100,832,092 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9710:Cachd1
|
UTSW |
4 |
100,832,092 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9751:Cachd1
|
UTSW |
4 |
100,823,438 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGCGGGTTCAGGTCAA -3'
(R):5'- ATCTGGCTTACTGACTAGGTTCCTCATT -3'
Sequencing Primer
(F):5'- AAATCTTCATCCACGGCCTC -3'
(R):5'- ACATGGAGCTtatacacatacctac -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation