Incidental Mutation 'R8904:Cachd1'
| ID |
678363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cachd1
|
| Ensembl Gene |
ENSMUSG00000028532 |
| Gene Name |
cache domain containing 1 |
| Synonyms |
Vwcd1, 1190007F10Rik, B430218L07Rik |
| MMRRC Submission |
068761-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R8904 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
100633870-100861741 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100810363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 322
(D322N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030257]
[ENSMUST00000097955]
|
| AlphaFold |
Q6PDJ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030257
AA Change: D322N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: D322N
| 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 damaging
Transcript: ENSMUST00000097955
AA Change: D322N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: D322N
| 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 |
|
| Meta Mutation Damage Score |
0.1309 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA |
CCGGA |
16: 21,472,148 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
T |
G |
11: 7,059,075 (GRCm39) |
L327R |
probably damaging |
Het |
| Ajm1 |
A |
T |
2: 25,467,914 (GRCm39) |
S666T |
probably benign |
Het |
| Amotl1 |
T |
C |
9: 14,469,861 (GRCm39) |
Q624R |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 102,988,374 (GRCm39) |
T106A |
probably benign |
Het |
| Aqr |
T |
A |
2: 113,967,474 (GRCm39) |
I514F |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,804,866 (GRCm39) |
T30A |
possibly damaging |
Het |
| Atp9a |
A |
T |
2: 168,547,097 (GRCm39) |
Y186N |
probably benign |
Het |
| Bub1 |
T |
A |
2: 127,671,622 (GRCm39) |
N21I |
possibly damaging |
Het |
| Ccdc38 |
A |
G |
10: 93,411,197 (GRCm39) |
E402G |
probably damaging |
Het |
| Ccl27a |
A |
T |
4: 41,774,194 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
T |
C |
6: 122,990,836 (GRCm39) |
|
probably benign |
Het |
| Clic5 |
A |
T |
17: 44,552,992 (GRCm39) |
K82M |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,430,423 (GRCm39) |
S566T |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,831,427 (GRCm39) |
T1596A |
probably damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,022,816 (GRCm39) |
E318G |
|
Het |
| Entpd8 |
A |
C |
2: 24,973,575 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,547,936 (GRCm39) |
F156L |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,369,067 (GRCm39) |
M819K |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,696,654 (GRCm39) |
R168G |
possibly damaging |
Het |
| Fbxw10 |
C |
A |
11: 62,765,831 (GRCm39) |
Y700* |
probably null |
Het |
| Fras1 |
G |
T |
5: 96,929,138 (GRCm39) |
R3847S |
probably benign |
Het |
| Gm11110 |
T |
C |
17: 57,410,439 (GRCm39) |
T20A |
unknown |
Het |
| Gpr150 |
G |
T |
13: 76,204,528 (GRCm39) |
S139* |
probably null |
Het |
| Grm1 |
A |
T |
10: 10,595,281 (GRCm39) |
N782K |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,323,404 (GRCm39) |
S4173G |
possibly damaging |
Het |
| Hmx1 |
T |
A |
5: 35,549,511 (GRCm39) |
V268D |
probably damaging |
Het |
| Hsbp1l1 |
T |
C |
18: 80,278,685 (GRCm39) |
T33A |
possibly damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,212,194 (GRCm39) |
T161A |
probably damaging |
Het |
| Igll1 |
A |
T |
16: 16,681,576 (GRCm39) |
W60R |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,664,893 (GRCm39) |
T593A |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,428,824 (GRCm39) |
D1393G |
possibly damaging |
Het |
| Krt36 |
A |
G |
11: 99,996,173 (GRCm39) |
F84L |
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,174,385 (GRCm39) |
S266P |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,744,173 (GRCm39) |
V163A |
probably damaging |
Het |
| Mmut |
A |
G |
17: 41,248,284 (GRCm39) |
T104A |
probably damaging |
Het |
| Mpl |
A |
G |
4: 118,301,263 (GRCm39) |
L534P |
|
Het |
| Myo3b |
C |
A |
2: 70,257,252 (GRCm39) |
H1317N |
probably benign |
Het |
| Nkx2-6 |
A |
G |
14: 69,409,420 (GRCm39) |
D57G |
probably benign |
Het |
| Or1ab2 |
A |
G |
8: 72,864,276 (GRCm39) |
I289V |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,192 (GRCm39) |
V30A |
probably benign |
Het |
| Or5d46 |
T |
G |
2: 88,169,949 (GRCm39) |
F13L |
possibly damaging |
Het |
| Or5p79 |
A |
G |
7: 108,221,919 (GRCm39) |
N300S |
probably damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,665 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or7g33 |
A |
T |
9: 19,448,760 (GRCm39) |
D155E |
possibly damaging |
Het |
| Osbpl11 |
T |
A |
16: 33,047,607 (GRCm39) |
H523Q |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,156,128 (GRCm39) |
S148T |
possibly damaging |
Het |
| Pign |
G |
A |
1: 105,519,359 (GRCm39) |
A521V |
possibly damaging |
Het |
| Pprc1 |
A |
G |
19: 46,060,183 (GRCm39) |
M1536V |
possibly damaging |
Het |
| Prg4 |
C |
A |
1: 150,331,810 (GRCm39) |
A288S |
possibly damaging |
Het |
| Prim2 |
A |
T |
1: 33,669,513 (GRCm39) |
I154N |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,545,590 (GRCm39) |
V1902A |
probably benign |
Het |
| Prss40 |
C |
T |
1: 34,595,045 (GRCm39) |
|
probably benign |
Het |
| Ret |
C |
T |
6: 118,157,174 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,026,127 (GRCm39) |
C1056S |
probably damaging |
Het |
| Schip1 |
T |
C |
3: 68,402,436 (GRCm39) |
L199P |
possibly damaging |
Het |
| Sema4d |
A |
T |
13: 51,854,935 (GRCm39) |
L54* |
probably null |
Het |
| Sgsm1 |
C |
T |
5: 113,421,495 (GRCm39) |
G531R |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,394,714 (GRCm39) |
F519S |
probably damaging |
Het |
| Tnfsf11 |
C |
T |
14: 78,516,119 (GRCm39) |
R283Q |
possibly damaging |
Het |
| Tril |
C |
T |
6: 53,797,202 (GRCm39) |
V7M |
possibly damaging |
Het |
| Tsr1 |
T |
A |
11: 74,790,217 (GRCm39) |
Y137* |
probably null |
Het |
| Ubr5 |
A |
G |
15: 38,042,153 (GRCm39) |
S148P |
|
Het |
| Unc13b |
A |
G |
4: 43,178,531 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
A |
G |
7: 12,223,506 (GRCm39) |
T64A |
possibly 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 |
|
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 |
|
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'- ATTCAAGCCTCGGCATTGTG -3'
(R):5'- TCATTAGATGGCTGCGAAGATG -3'
Sequencing Primer
(F):5'- GGATTGACTATCTGAGCCCAG -3'
(R):5'- TTAGATGGCTGCGAAGATGGTAAAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation