Incidental Mutation 'R8958:Cachd1'
| ID |
682149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cachd1
|
| Ensembl Gene |
ENSMUSG00000028532 |
| Gene Name |
cache domain containing 1 |
| Synonyms |
Vwcd1, 1190007F10Rik, B430218L07Rik |
| MMRRC Submission |
068794-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R8958 (G1)
|
| Quality Score |
196.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
100633870-100861741 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100851283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1167
(D1167G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030257]
[ENSMUST00000097955]
|
| AlphaFold |
Q6PDJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030257
AA Change: D1167G
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: D1167G
| 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 |
probably benign
Transcript: ENSMUST00000097955
AA Change: D1167G
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: D1167G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
T |
12: 21,399,934 (GRCm39) |
N157K |
possibly damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,848 (GRCm39) |
V412A |
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,865,190 (GRCm39) |
V11I |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,579,019 (GRCm39) |
D643G |
probably damaging |
Het |
| Arvcf |
A |
G |
16: 18,221,376 (GRCm39) |
Q597R |
probably damaging |
Het |
| Brdt |
T |
C |
5: 107,525,877 (GRCm39) |
V910A |
probably benign |
Het |
| Ccdc187 |
A |
C |
2: 26,165,577 (GRCm39) |
S860A |
probably benign |
Het |
| Ccdc28a |
T |
C |
10: 18,089,926 (GRCm39) |
I113M |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,704,127 (GRCm39) |
N699S |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,385,350 (GRCm39) |
I2310K |
possibly damaging |
Het |
| Ch25h |
A |
T |
19: 34,452,414 (GRCm39) |
I38N |
probably benign |
Het |
| Chrdl2 |
C |
A |
7: 99,670,129 (GRCm39) |
P84Q |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,586,403 (GRCm39) |
Y1673N |
possibly damaging |
Het |
| Cr1l |
C |
G |
1: 194,812,243 (GRCm39) |
G27R |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 4,031,172 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,586,805 (GRCm39) |
E929K |
probably benign |
Het |
| E2f7 |
C |
A |
10: 110,601,615 (GRCm39) |
P324Q |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,411,194 (GRCm39) |
D215G |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 102,072,614 (GRCm39) |
I55T |
probably damaging |
Het |
| Fbxw14 |
A |
T |
9: 109,107,810 (GRCm39) |
L188Q |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,944 (GRCm39) |
S226P |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,275,210 (GRCm39) |
F337L |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,899,116 (GRCm39) |
C716* |
probably null |
Het |
| Gp1ba |
C |
G |
11: 70,531,730 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
C |
T |
6: 111,472,783 (GRCm39) |
S36L |
probably damaging |
Het |
| H2-M5 |
T |
A |
17: 37,299,520 (GRCm39) |
I167F |
probably damaging |
Het |
| H3c6 |
T |
C |
13: 23,746,421 (GRCm39) |
H40R |
possibly damaging |
Het |
| Hycc1 |
A |
G |
5: 24,169,934 (GRCm39) |
C472R |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ino80 |
C |
T |
2: 119,213,862 (GRCm39) |
R1236H |
probably damaging |
Het |
| Ism1 |
T |
A |
2: 139,573,995 (GRCm39) |
I115N |
possibly damaging |
Het |
| Kdm4a |
A |
G |
4: 117,999,573 (GRCm39) |
S950P |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,835,592 (GRCm39) |
T1254A |
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,698,361 (GRCm39) |
K339* |
probably null |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Mkrn2os |
G |
C |
6: 115,562,317 (GRCm39) |
S215R |
probably benign |
Het |
| Myzap |
G |
T |
9: 71,457,485 (GRCm39) |
D303E |
possibly damaging |
Het |
| Naa11 |
T |
C |
5: 97,540,084 (GRCm39) |
N25D |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,354,117 (GRCm39) |
K1149* |
probably null |
Het |
| Obscn |
C |
T |
11: 58,964,158 (GRCm39) |
V3083M |
probably damaging |
Het |
| Or10d1 |
T |
C |
9: 39,484,091 (GRCm39) |
T155A |
probably benign |
Het |
| Or4k48 |
T |
C |
2: 111,476,070 (GRCm39) |
T91A |
possibly damaging |
Het |
| Parn |
T |
A |
16: 13,466,322 (GRCm39) |
E241D |
possibly damaging |
Het |
| Pax1 |
T |
A |
2: 147,210,517 (GRCm39) |
|
probably null |
Het |
| Pclo |
A |
T |
5: 14,725,369 (GRCm39) |
E1409V |
unknown |
Het |
| Pclo |
A |
G |
5: 14,763,056 (GRCm39) |
Y3843C |
unknown |
Het |
| Ppp2r3d |
A |
T |
9: 101,088,634 (GRCm39) |
M563K |
probably benign |
Het |
| Prdm1 |
T |
G |
10: 44,316,729 (GRCm39) |
K623Q |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,698,973 (GRCm39) |
V1152A |
probably benign |
Het |
| Ptx3 |
G |
A |
3: 66,128,391 (GRCm39) |
A151T |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,644,940 (GRCm39) |
S282G |
possibly damaging |
Het |
| Ros1 |
G |
T |
10: 51,972,190 (GRCm39) |
N1641K |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,181,768 (GRCm39) |
K4189R |
probably benign |
Het |
| Tcf3 |
T |
C |
10: 80,246,091 (GRCm39) |
K611E |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,376 (GRCm39) |
Q151R |
probably benign |
Het |
| Trappc8 |
T |
C |
18: 21,003,667 (GRCm39) |
I254V |
probably benign |
Het |
| Trim46 |
T |
C |
3: 89,143,760 (GRCm39) |
D556G |
probably damaging |
Het |
| Wdr97 |
A |
T |
15: 76,245,694 (GRCm39) |
E1310D |
|
Het |
| Zfp513 |
C |
A |
5: 31,356,825 (GRCm39) |
R487L |
probably damaging |
Het |
| Zmpste24 |
C |
A |
4: 120,944,508 (GRCm39) |
E97* |
probably null |
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 |
|
R1482:Cachd1
|
UTSW |
4 |
100,845,795 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1632:Cachd1
|
UTSW |
4 |
100,824,169 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1774:Cachd1
|
UTSW |
4 |
100,821,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1774:Cachd1
|
UTSW |
4 |
100,824,240 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- GCACACTTGAGGAGAGCTTTC -3'
(R):5'- AGACCCACACCTATTCCTAGTG -3'
Sequencing Primer
(F):5'- ACTTGAGGAGAGCTTTCTACCAC -3'
(R):5'- CTATTCCTAGTGAAAAGGGGAGG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation