Incidental Mutation 'R9358:Cachd1'
| ID |
708507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cachd1
|
| Ensembl Gene |
ENSMUSG00000028532 |
| Gene Name |
cache domain containing 1 |
| Synonyms |
Vwcd1, 1190007F10Rik, B430218L07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R9358 (G1)
|
| Quality Score |
222.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
100633870-100861741 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100833622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 800
(V800M)
|
| 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: V800M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: V800M
| 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: V800M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: V800M
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
T |
3: 121,474,976 (GRCm39) |
K149* |
probably null |
Het |
| Ap3m2 |
G |
A |
8: 23,280,959 (GRCm39) |
S365F |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,060,833 (GRCm39) |
I3105K |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,492,628 (GRCm39) |
L1261P |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,450,653 (GRCm39) |
|
probably null |
Het |
| Axin2 |
A |
G |
11: 108,814,873 (GRCm39) |
T254A |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,222,881 (GRCm39) |
L892P |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,962,987 (GRCm39) |
R466* |
probably null |
Het |
| Cilp |
A |
G |
9: 65,183,269 (GRCm39) |
Q391R |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,002,836 (GRCm39) |
I137F |
probably damaging |
Het |
| Ctcfl |
T |
A |
2: 172,960,581 (GRCm39) |
M1L |
possibly damaging |
Het |
| Dnah14 |
G |
A |
1: 181,536,598 (GRCm39) |
A2414T |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,406,592 (GRCm39) |
L550P |
probably damaging |
Het |
| Erich6b |
T |
A |
14: 75,902,668 (GRCm39) |
S162T |
probably benign |
Het |
| Fbxw7 |
C |
A |
3: 84,883,561 (GRCm39) |
H578Q |
|
Het |
| Fer |
T |
C |
17: 64,280,076 (GRCm39) |
L418P |
possibly damaging |
Het |
| Fndc3b |
A |
C |
3: 27,505,556 (GRCm39) |
L904R |
possibly damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,935,422 (GRCm39) |
I249N |
possibly damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,127 (GRCm39) |
D304E |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpatch4 |
G |
T |
3: 87,962,452 (GRCm39) |
E222* |
probably null |
Het |
| Heatr1 |
A |
T |
13: 12,433,087 (GRCm39) |
T1146S |
probably benign |
Het |
| Hrc |
A |
C |
7: 44,985,984 (GRCm39) |
E378D |
probably benign |
Het |
| Hspg2 |
G |
T |
4: 137,244,909 (GRCm39) |
R878L |
probably damaging |
Het |
| Igkv1-122 |
A |
G |
6: 67,993,756 (GRCm39) |
M11V |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,643,885 (GRCm39) |
K75* |
probably null |
Het |
| Jag1 |
A |
G |
2: 136,924,948 (GRCm39) |
V1218A |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,563,695 (GRCm39) |
D94N |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,064,378 (GRCm39) |
T1201M |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,492,761 (GRCm39) |
L11P |
unknown |
Het |
| Lrfn2 |
T |
C |
17: 49,403,530 (GRCm39) |
V551A |
probably damaging |
Het |
| Lrrc8d |
A |
G |
5: 105,960,358 (GRCm39) |
N256S |
probably benign |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,868,452 (GRCm39) |
S534P |
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,437,734 (GRCm39) |
I187N |
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,364,840 (GRCm39) |
M360V |
probably benign |
Het |
| Muc16 |
T |
G |
9: 18,553,520 (GRCm39) |
I4258L |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,781,520 (GRCm39) |
D1005G |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,943,269 (GRCm39) |
R1645S |
possibly damaging |
Het |
| Naip2 |
A |
T |
13: 100,298,080 (GRCm39) |
V652D |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,163,106 (GRCm39) |
M134K |
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,586,868 (GRCm39) |
F893S |
probably damaging |
Het |
| Or10j3 |
A |
T |
1: 173,031,741 (GRCm39) |
R273W |
probably damaging |
Het |
| Or11h23 |
A |
G |
14: 50,947,802 (GRCm39) |
E5G |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,797,451 (GRCm39) |
I289N |
probably damaging |
Het |
| Or4f14b |
A |
G |
2: 111,775,429 (GRCm39) |
V124A |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,854,799 (GRCm39) |
C182Y |
probably damaging |
Het |
| Pcgf1 |
G |
T |
6: 83,056,433 (GRCm39) |
R124L |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,448,533 (GRCm39) |
N10K |
probably damaging |
Het |
| Pdx1 |
C |
T |
5: 147,207,064 (GRCm39) |
Q6* |
probably null |
Het |
| Plcl1 |
T |
C |
1: 55,735,810 (GRCm39) |
S384P |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,653 (GRCm39) |
T364S |
possibly damaging |
Het |
| Slc5a11 |
C |
T |
7: 122,857,775 (GRCm39) |
T288I |
probably damaging |
Het |
| Slc6a1 |
A |
T |
6: 114,291,271 (GRCm39) |
S515C |
probably damaging |
Het |
| Snca |
A |
T |
6: 60,710,121 (GRCm39) |
D119E |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,200,814 (GRCm39) |
D578G |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,890,729 (GRCm39) |
L389Q |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,826 (GRCm39) |
F783L |
possibly damaging |
Het |
| Tln1 |
A |
C |
4: 43,532,084 (GRCm39) |
I2501S |
possibly damaging |
Het |
| Tmem191 |
A |
G |
16: 17,094,257 (GRCm39) |
E27G |
probably damaging |
Het |
| Tmem200a |
G |
T |
10: 25,869,677 (GRCm39) |
N197K |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,345,434 (GRCm39) |
S11T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,564,953 (GRCm39) |
T28425A |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,607,147 (GRCm39) |
T4014M |
probably benign |
Het |
| Vac14 |
G |
A |
8: 111,439,379 (GRCm39) |
|
probably null |
Het |
| Vmn2r32 |
A |
T |
7: 7,477,197 (GRCm39) |
I398K |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,236 (GRCm39) |
H472L |
probably benign |
Het |
| Vps45 |
C |
T |
3: 95,940,976 (GRCm39) |
|
probably null |
Het |
| Wdr26 |
T |
C |
1: 181,019,423 (GRCm39) |
H334R |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,349,613 (GRCm39) |
Y350F |
possibly damaging |
Het |
| Zmynd10 |
A |
G |
9: 107,426,249 (GRCm39) |
D132G |
possibly damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,444,774 (GRCm39) |
T123A |
probably benign |
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 |
|
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 |
|
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'- GTCAACCCTGCTCACTCAG -3'
(R):5'- ACTCTTTATGGATTTGAAAGGTGACTG -3'
Sequencing Primer
(F):5'- GGATTTGAACTCAGGACCTTCAG -3'
(R):5'- TACCTAGCACTTGAACGGTTCAGTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation