Incidental Mutation 'IGL02268:Cachd1'
| ID |
287000 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cachd1
|
| Ensembl Gene |
ENSMUSG00000028532 |
| Gene Name |
cache domain containing 1 |
| Synonyms |
Vwcd1, 1190007F10Rik, B430218L07Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
IGL02268
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
100633870-100861741 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100809294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 260
(I260V)
|
| 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: I260V
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: I260V
| 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: I260V
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: I260V
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
C |
T |
10: 28,862,242 (GRCm39) |
C16Y |
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,240,626 (GRCm39) |
L830F |
probably benign |
Het |
| Apcdd1 |
T |
C |
18: 63,083,259 (GRCm39) |
V363A |
probably damaging |
Het |
| Atosb |
T |
A |
4: 43,036,468 (GRCm39) |
R88* |
probably null |
Het |
| Cass4 |
T |
A |
2: 172,268,962 (GRCm39) |
M350K |
possibly damaging |
Het |
| Ccnjl |
A |
G |
11: 43,470,615 (GRCm39) |
T128A |
probably benign |
Het |
| Cd6 |
C |
T |
19: 10,773,752 (GRCm39) |
G361D |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 164,965,639 (GRCm39) |
|
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,746,572 (GRCm39) |
F475Y |
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,245,380 (GRCm39) |
T44S |
probably damaging |
Het |
| Cplx3 |
C |
T |
9: 57,509,741 (GRCm39) |
E86K |
possibly damaging |
Het |
| Crbn |
A |
G |
6: 106,772,004 (GRCm39) |
V100A |
possibly damaging |
Het |
| D430041D05Rik |
C |
A |
2: 104,071,500 (GRCm39) |
V1267L |
possibly damaging |
Het |
| Ecrg4 |
T |
A |
1: 43,770,111 (GRCm39) |
C23S |
probably damaging |
Het |
| Elapor1 |
C |
A |
3: 108,375,113 (GRCm39) |
A585S |
probably benign |
Het |
| F930017D23Rik |
A |
G |
10: 43,480,405 (GRCm39) |
|
noncoding transcript |
Het |
| Fastkd3 |
A |
G |
13: 68,731,796 (GRCm39) |
D39G |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,733,490 (GRCm39) |
S912R |
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ifna9 |
A |
T |
4: 88,510,591 (GRCm39) |
L11* |
probably null |
Het |
| Igsf10 |
A |
T |
3: 59,238,573 (GRCm39) |
L536* |
probably null |
Het |
| Itprid1 |
A |
T |
6: 55,861,673 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,593,144 (GRCm39) |
I215K |
probably damaging |
Het |
| Kdm4c |
A |
C |
4: 74,291,953 (GRCm39) |
I857L |
possibly damaging |
Het |
| Kptn |
A |
T |
7: 15,857,786 (GRCm39) |
H229L |
probably benign |
Het |
| Krt32 |
A |
T |
11: 99,978,967 (GRCm39) |
M29K |
probably benign |
Het |
| Lama2 |
A |
G |
10: 26,877,112 (GRCm39) |
|
probably benign |
Het |
| Lpcat2b |
A |
C |
5: 107,581,982 (GRCm39) |
D437A |
probably damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,755,764 (GRCm39) |
L513P |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,778,997 (GRCm39) |
V407A |
possibly damaging |
Het |
| Myo5c |
C |
T |
9: 75,153,519 (GRCm39) |
P135L |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,942,877 (GRCm39) |
V218M |
possibly damaging |
Het |
| Myof |
T |
A |
19: 37,963,311 (GRCm39) |
I429F |
possibly damaging |
Het |
| Nbas |
A |
G |
12: 13,455,398 (GRCm39) |
D1204G |
possibly damaging |
Het |
| Nckap1 |
G |
A |
2: 80,358,962 (GRCm39) |
P560S |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,044,713 (GRCm39) |
G1545D |
probably damaging |
Het |
| Ntrk1 |
G |
A |
3: 87,688,838 (GRCm39) |
H572Y |
probably damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,551 (GRCm39) |
F164L |
probably benign |
Het |
| Or7e177 |
T |
C |
9: 20,211,588 (GRCm39) |
S31P |
probably damaging |
Het |
| Pate8 |
T |
C |
9: 36,493,166 (GRCm39) |
Y52C |
possibly damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,178,504 (GRCm39) |
D587V |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,928,609 (GRCm39) |
Y882C |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,606,704 (GRCm39) |
*1074C |
probably null |
Het |
| Plcxd1 |
T |
C |
5: 110,248,140 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
A |
G |
7: 138,474,700 (GRCm39) |
N27S |
probably null |
Het |
| Prkar2a |
A |
G |
9: 108,624,152 (GRCm39) |
M390V |
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,796,695 (GRCm39) |
T18A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,329,475 (GRCm39) |
|
probably benign |
Het |
| Rasl12 |
T |
C |
9: 65,305,946 (GRCm39) |
S34P |
probably damaging |
Het |
| Rpusd3 |
A |
T |
6: 113,395,818 (GRCm39) |
L65Q |
possibly damaging |
Het |
| Rtf2 |
A |
G |
2: 172,310,639 (GRCm39) |
K290R |
probably damaging |
Het |
| Rwdd4a |
T |
A |
8: 48,003,731 (GRCm39) |
L179* |
probably null |
Het |
| Scgb1b24 |
A |
G |
7: 33,444,388 (GRCm39) |
E87G |
possibly damaging |
Het |
| Sgo2a |
A |
G |
1: 58,056,881 (GRCm39) |
I1022V |
probably benign |
Het |
| Smg1 |
A |
C |
7: 117,781,764 (GRCm39) |
I1174M |
probably benign |
Het |
| Spata17 |
A |
T |
1: 186,872,595 (GRCm39) |
M72K |
probably damaging |
Het |
| Synpo2 |
G |
A |
3: 122,910,632 (GRCm39) |
P338S |
probably damaging |
Het |
| Tpi1 |
G |
A |
6: 124,791,087 (GRCm39) |
T50I |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,867,362 (GRCm39) |
E354G |
probably damaging |
Het |
| Uba2 |
A |
G |
7: 33,842,161 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
G |
A |
6: 119,914,334 (GRCm39) |
R1823* |
probably null |
Het |
| Zfp248 |
A |
C |
6: 118,430,801 (GRCm39) |
|
probably benign |
Het |
| Zfp51 |
A |
T |
17: 21,683,681 (GRCm39) |
K99* |
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 |
|
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 |
100,824,240 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation