Incidental Mutation 'R6185:Cachd1'
ID |
502087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cachd1
|
Ensembl Gene |
ENSMUSG00000028532 |
Gene Name |
cache domain containing 1 |
Synonyms |
Vwcd1, 1190007F10Rik, B430218L07Rik |
MMRRC Submission |
044325-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.258)
|
Stock # |
R6185 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
100633870-100861741 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 100838228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 830
(Y830*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030257]
[ENSMUST00000097955]
|
AlphaFold |
Q6PDJ1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030257
AA Change: Y830*
|
SMART Domains |
Protein: ENSMUSP00000030257 Gene: ENSMUSG00000028532 AA Change: Y830*
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 null
Transcript: ENSMUST00000097955
AA Change: Y830*
|
SMART Domains |
Protein: ENSMUSP00000095568 Gene: ENSMUSG00000028532 AA Change: Y830*
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
96% (80/83) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,078,089 (GRCm39) |
H894Q |
probably benign |
Het |
Abca4 |
A |
T |
3: 121,919,789 (GRCm39) |
I1024F |
probably damaging |
Het |
Acadl |
A |
G |
1: 66,877,522 (GRCm39) |
V343A |
possibly damaging |
Het |
Akr1e1 |
T |
A |
13: 4,651,252 (GRCm39) |
I123L |
probably benign |
Het |
Angptl2 |
T |
C |
2: 33,119,026 (GRCm39) |
S267P |
probably benign |
Het |
Ap2a1 |
T |
G |
7: 44,565,594 (GRCm39) |
K91T |
probably damaging |
Het |
Bend7 |
A |
T |
2: 4,793,333 (GRCm39) |
Q379L |
probably damaging |
Het |
Bicdl1 |
C |
T |
5: 115,808,212 (GRCm39) |
|
probably null |
Het |
Ccdc158 |
T |
A |
5: 92,814,713 (GRCm39) |
I38F |
possibly damaging |
Het |
Cep97 |
T |
A |
16: 55,735,455 (GRCm39) |
M448L |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,775,765 (GRCm39) |
D2572G |
probably damaging |
Het |
Clcnkb |
C |
T |
4: 141,141,825 (GRCm39) |
V54M |
probably benign |
Het |
Cln8 |
A |
G |
8: 14,946,544 (GRCm39) |
D186G |
probably benign |
Het |
Crxos |
C |
T |
7: 15,636,805 (GRCm39) |
S22L |
possibly damaging |
Het |
Cx3cr1 |
A |
T |
9: 119,880,444 (GRCm39) |
H319Q |
probably benign |
Het |
Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
Dmrta1 |
A |
G |
4: 89,580,005 (GRCm39) |
R322G |
probably damaging |
Het |
Dpf1 |
A |
G |
7: 29,010,696 (GRCm39) |
E103G |
possibly damaging |
Het |
Dsg1b |
T |
G |
18: 20,532,543 (GRCm39) |
V529G |
probably benign |
Het |
Dst |
G |
A |
1: 34,212,161 (GRCm39) |
V1361I |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,483,743 (GRCm39) |
I89V |
probably damaging |
Het |
Etfdh |
G |
T |
3: 79,513,114 (GRCm39) |
H370N |
probably benign |
Het |
Fam186a |
A |
G |
15: 99,845,530 (GRCm39) |
I238T |
unknown |
Het |
Fbxl5 |
T |
A |
5: 43,978,894 (GRCm39) |
S19C |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Fryl |
A |
G |
5: 73,270,131 (GRCm39) |
V367A |
probably benign |
Het |
Gm19410 |
T |
A |
8: 36,274,664 (GRCm39) |
L1495H |
possibly damaging |
Het |
Gm19965 |
A |
G |
1: 116,749,003 (GRCm39) |
E228G |
possibly damaging |
Het |
Gpr89 |
C |
A |
3: 96,798,149 (GRCm39) |
C169F |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,491,189 (GRCm39) |
|
probably null |
Het |
Hsph1 |
A |
T |
5: 149,541,160 (GRCm39) |
C753S |
probably damaging |
Het |
Igf2 |
T |
A |
7: 142,212,118 (GRCm39) |
S4C |
possibly damaging |
Het |
Kansl3 |
A |
T |
1: 36,385,099 (GRCm39) |
S486T |
probably damaging |
Het |
Khdrbs1 |
G |
C |
4: 129,636,068 (GRCm39) |
|
probably benign |
Het |
Lnx1 |
A |
T |
5: 74,846,269 (GRCm39) |
C60* |
probably null |
Het |
Lrpprc |
T |
C |
17: 85,074,452 (GRCm39) |
D485G |
probably benign |
Het |
Ly6i |
A |
T |
15: 74,851,879 (GRCm39) |
S97T |
possibly damaging |
Het |
Me2 |
G |
A |
18: 73,924,199 (GRCm39) |
Q338* |
probably null |
Het |
Med16 |
A |
T |
10: 79,732,197 (GRCm39) |
L790Q |
probably damaging |
Het |
Muc16 |
G |
T |
9: 18,565,769 (GRCm39) |
T2250K |
unknown |
Het |
Myo10 |
T |
G |
15: 25,726,596 (GRCm39) |
F273C |
probably damaging |
Het |
Neil3 |
T |
A |
8: 54,052,182 (GRCm39) |
H472L |
probably benign |
Het |
Nrxn1 |
T |
A |
17: 90,344,564 (GRCm39) |
S57C |
probably damaging |
Het |
Nup188 |
A |
T |
2: 30,231,722 (GRCm39) |
T1439S |
probably damaging |
Het |
Or10g3 |
T |
C |
14: 52,610,019 (GRCm39) |
T164A |
possibly damaging |
Het |
Or10g7 |
T |
C |
9: 39,905,420 (GRCm39) |
F105L |
probably benign |
Het |
Or5w10 |
A |
G |
2: 87,375,087 (GRCm39) |
M267T |
possibly damaging |
Het |
Otud7a |
T |
A |
7: 63,408,133 (GRCm39) |
L812Q |
probably damaging |
Het |
Paip2b |
C |
T |
6: 83,786,952 (GRCm39) |
A95T |
probably benign |
Het |
Pax4 |
C |
T |
6: 28,446,347 (GRCm39) |
V49I |
probably damaging |
Het |
Plek |
C |
T |
11: 16,931,829 (GRCm39) |
A341T |
probably damaging |
Het |
Prkag1 |
G |
A |
15: 98,723,595 (GRCm39) |
P10L |
probably benign |
Het |
R3hdm1 |
A |
C |
1: 128,079,598 (GRCm39) |
D15A |
possibly damaging |
Het |
Rad54b |
A |
T |
4: 11,593,804 (GRCm39) |
D144V |
possibly damaging |
Het |
Rmi2 |
C |
T |
16: 10,704,073 (GRCm39) |
T138I |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,189,814 (GRCm39) |
L379P |
probably damaging |
Het |
Sec14l3 |
A |
T |
11: 4,025,244 (GRCm39) |
I285F |
probably damaging |
Het |
Sec31b |
A |
T |
19: 44,531,723 (GRCm39) |
I62N |
possibly damaging |
Het |
Selp |
A |
G |
1: 163,953,915 (GRCm39) |
N72D |
probably damaging |
Het |
Sipa1l1 |
T |
A |
12: 82,471,802 (GRCm39) |
S1261T |
probably damaging |
Het |
Sipa1l2 |
A |
T |
8: 126,194,992 (GRCm39) |
Y915* |
probably null |
Het |
Slc22a27 |
A |
T |
19: 7,903,953 (GRCm39) |
D61E |
probably benign |
Het |
Slc2a7 |
A |
G |
4: 150,233,450 (GRCm39) |
T8A |
probably benign |
Het |
Slc5a2 |
T |
C |
7: 127,870,349 (GRCm39) |
I529T |
probably damaging |
Het |
Spart |
A |
C |
3: 55,024,640 (GRCm39) |
Q78H |
probably damaging |
Het |
Spocd1 |
T |
C |
4: 129,850,242 (GRCm39) |
I756T |
probably benign |
Het |
Stc1 |
G |
A |
14: 69,275,813 (GRCm39) |
C202Y |
probably damaging |
Het |
Stk10 |
A |
G |
11: 32,527,749 (GRCm39) |
T166A |
probably benign |
Het |
Syt6 |
A |
T |
3: 103,492,844 (GRCm39) |
D32V |
probably damaging |
Het |
Tanc1 |
T |
A |
2: 59,621,929 (GRCm39) |
|
probably null |
Het |
Tanc2 |
T |
A |
11: 105,803,865 (GRCm39) |
N297K |
probably damaging |
Het |
Telo2 |
A |
G |
17: 25,321,014 (GRCm39) |
S734P |
probably benign |
Het |
Tfrc |
T |
A |
16: 32,437,090 (GRCm39) |
Y250N |
probably benign |
Het |
Tmem97 |
C |
T |
11: 78,434,388 (GRCm39) |
W65* |
probably null |
Het |
Ubr3 |
T |
C |
2: 69,768,621 (GRCm39) |
M476T |
probably damaging |
Het |
Ubtf |
T |
C |
11: 102,204,849 (GRCm39) |
T117A |
probably damaging |
Het |
Usp17lb |
T |
A |
7: 104,490,631 (GRCm39) |
M99L |
probably benign |
Het |
Uvrag |
A |
C |
7: 98,790,039 (GRCm39) |
|
probably null |
Het |
Vmn2r63 |
A |
G |
7: 42,578,435 (GRCm39) |
S153P |
probably damaging |
Het |
Vmn2r90 |
A |
T |
17: 17,953,644 (GRCm39) |
T603S |
probably damaging |
Het |
Vps8 |
C |
A |
16: 21,288,891 (GRCm39) |
L417I |
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 |
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 |
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'- CATGTTAGCACTGGTCTTGTTC -3'
(R):5'- GCCATGAACACATCTCCTGTC -3'
Sequencing Primer
(F):5'- GCACTGGTCTTGTTCAAAAAGCC -3'
(R):5'- ATGAACACATCTCCTGTCTCGACG -3'
|
Posted On |
2018-02-27 |