Incidental Mutation 'R1774:Cachd1'
ID |
196900 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cachd1
|
Ensembl Gene |
ENSMUSG00000028532 |
Gene Name |
cache domain containing 1 |
Synonyms |
Vwcd1, 1190007F10Rik, B430218L07Rik |
MMRRC Submission |
039805-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R1774 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
100633870-100861741 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100821632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 403
(T403I)
|
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: T403I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030257 Gene: ENSMUSG00000028532 AA Change: T403I
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: T403I
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000095568 Gene: ENSMUSG00000028532 AA Change: T403I
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: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
T |
C |
5: 144,982,351 (GRCm39) |
V312A |
probably damaging |
Het |
2810408A11Rik |
A |
G |
11: 69,791,453 (GRCm39) |
V42A |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Angpt1 |
T |
A |
15: 42,387,012 (GRCm39) |
Q114L |
probably damaging |
Het |
Apc2 |
T |
C |
10: 80,144,964 (GRCm39) |
I625T |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,300,628 (GRCm39) |
V735A |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,947,008 (GRCm39) |
I2909N |
probably damaging |
Het |
C7 |
C |
G |
15: 5,041,557 (GRCm39) |
D450H |
probably damaging |
Het |
Cacna2d2 |
A |
T |
9: 107,403,350 (GRCm39) |
Y944F |
probably benign |
Het |
Cdkal1 |
C |
T |
13: 30,034,031 (GRCm39) |
D21N |
probably damaging |
Het |
Col18a1 |
T |
C |
10: 76,895,815 (GRCm39) |
R901G |
probably damaging |
Het |
Col27a1 |
C |
T |
4: 63,143,950 (GRCm39) |
P546L |
probably damaging |
Het |
Cps1 |
C |
T |
1: 67,210,041 (GRCm39) |
R624W |
possibly damaging |
Het |
Cyp11a1 |
A |
T |
9: 57,925,643 (GRCm39) |
I93F |
probably benign |
Het |
Cyp2c40 |
G |
C |
19: 39,775,250 (GRCm39) |
T334R |
probably damaging |
Het |
Cyp4f37 |
A |
G |
17: 32,848,864 (GRCm39) |
D244G |
possibly damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,062,390 (GRCm39) |
D43E |
probably damaging |
Het |
Ep400 |
C |
A |
5: 110,833,357 (GRCm39) |
C1955F |
unknown |
Het |
Ethe1 |
G |
A |
7: 24,293,371 (GRCm39) |
V6I |
probably benign |
Het |
F5 |
C |
A |
1: 164,020,104 (GRCm39) |
Q860K |
probably benign |
Het |
Fasn |
T |
C |
11: 120,707,997 (GRCm39) |
Y685C |
probably damaging |
Het |
Gga2 |
T |
G |
7: 121,611,444 (GRCm39) |
D38A |
probably damaging |
Het |
Gm43302 |
T |
A |
5: 105,423,660 (GRCm39) |
I438F |
probably benign |
Het |
Grm1 |
T |
A |
10: 10,955,610 (GRCm39) |
T225S |
possibly damaging |
Het |
Hic2 |
G |
T |
16: 17,076,511 (GRCm39) |
V447L |
probably damaging |
Het |
Hsf2 |
G |
A |
10: 57,388,242 (GRCm39) |
C462Y |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,752,672 (GRCm39) |
D1138G |
probably damaging |
Het |
Il6 |
A |
G |
5: 30,224,433 (GRCm39) |
T158A |
probably benign |
Het |
Inpp5d |
T |
A |
1: 87,595,611 (GRCm39) |
V120E |
probably benign |
Het |
Iqca1 |
T |
C |
1: 90,008,625 (GRCm39) |
N456S |
probably benign |
Het |
Itgal |
T |
A |
7: 126,908,794 (GRCm39) |
|
probably null |
Het |
Lrrc66 |
G |
C |
5: 73,768,198 (GRCm39) |
Q248E |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,865,929 (GRCm39) |
M1271L |
possibly damaging |
Het |
Lrrc74a |
T |
C |
12: 86,795,827 (GRCm39) |
S267P |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,453,233 (GRCm39) |
S550P |
probably damaging |
Het |
Mapk8ip3 |
A |
T |
17: 25,143,119 (GRCm39) |
|
probably null |
Het |
Mdm4 |
A |
C |
1: 132,924,384 (GRCm39) |
S246A |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,779,584 (GRCm39) |
E887G |
probably damaging |
Het |
Mta1 |
C |
T |
12: 113,091,659 (GRCm39) |
A254V |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,064,300 (GRCm39) |
Y85C |
possibly damaging |
Het |
Myo1g |
A |
G |
11: 6,465,988 (GRCm39) |
Y366H |
probably damaging |
Het |
Nalcn |
G |
A |
14: 123,515,678 (GRCm39) |
P1708S |
probably benign |
Het |
Nlrp9c |
A |
T |
7: 26,093,543 (GRCm39) |
S41T |
probably benign |
Het |
Nptx2 |
T |
A |
5: 144,490,248 (GRCm39) |
S226T |
possibly damaging |
Het |
Nup85 |
T |
A |
11: 115,473,771 (GRCm39) |
S562T |
probably benign |
Het |
Nxpe5 |
T |
C |
5: 138,237,797 (GRCm39) |
V107A |
probably benign |
Het |
Obi1 |
A |
G |
14: 104,717,098 (GRCm39) |
V425A |
possibly damaging |
Het |
Oga |
T |
C |
19: 45,765,423 (GRCm39) |
E128G |
probably benign |
Het |
Or10ac1 |
A |
T |
6: 42,515,453 (GRCm39) |
F168I |
probably damaging |
Het |
Or10al7 |
A |
G |
17: 38,366,328 (GRCm39) |
V43A |
probably benign |
Het |
Or13c3 |
T |
A |
4: 52,855,674 (GRCm39) |
I280F |
probably benign |
Het |
Or6p1 |
A |
G |
1: 174,258,905 (GRCm39) |
T304A |
probably benign |
Het |
Pcdhb12 |
C |
T |
18: 37,569,495 (GRCm39) |
P214S |
possibly damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,725 (GRCm39) |
F702I |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 82,022,094 (GRCm39) |
F1475S |
probably damaging |
Het |
Pde5a |
C |
A |
3: 122,523,013 (GRCm39) |
T40N |
probably benign |
Het |
Pnpla2 |
T |
A |
7: 141,039,481 (GRCm39) |
V398E |
probably damaging |
Het |
Pramel19 |
G |
A |
4: 101,797,655 (GRCm39) |
V18M |
probably benign |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rab20 |
T |
C |
8: 11,504,223 (GRCm39) |
K159R |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,123,747 (GRCm39) |
V510D |
probably benign |
Het |
Slamf6 |
T |
C |
1: 171,770,154 (GRCm39) |
|
probably benign |
Het |
Slc27a5 |
A |
T |
7: 12,731,534 (GRCm39) |
C23* |
probably null |
Het |
Slc35e2 |
T |
C |
4: 155,694,621 (GRCm39) |
V56A |
possibly damaging |
Het |
Slx4ip |
T |
C |
2: 136,909,643 (GRCm39) |
S143P |
probably damaging |
Het |
Stat5a |
C |
T |
11: 100,770,112 (GRCm39) |
S463F |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,146,562 (GRCm39) |
D360G |
possibly damaging |
Het |
Tas2r143 |
A |
T |
6: 42,377,305 (GRCm39) |
D45V |
probably damaging |
Het |
Tdrd5 |
G |
T |
1: 156,105,079 (GRCm39) |
R516S |
probably damaging |
Het |
Thy1 |
A |
G |
9: 43,958,636 (GRCm39) |
D126G |
probably benign |
Het |
Tspear |
C |
T |
10: 77,709,019 (GRCm39) |
T415I |
probably benign |
Het |
Ttll5 |
C |
A |
12: 85,980,176 (GRCm39) |
T920K |
probably benign |
Het |
Tut4 |
T |
C |
4: 108,365,152 (GRCm39) |
F542L |
probably damaging |
Het |
Umod |
T |
C |
7: 119,076,574 (GRCm39) |
E64G |
possibly damaging |
Het |
Usf3 |
A |
G |
16: 44,036,033 (GRCm39) |
N171S |
probably damaging |
Het |
Vmn1r23 |
T |
A |
6: 57,903,675 (GRCm39) |
R34S |
probably damaging |
Het |
Wasf1 |
C |
G |
10: 40,810,475 (GRCm39) |
P239R |
possibly damaging |
Het |
Wdr95 |
C |
T |
5: 149,487,857 (GRCm39) |
R164* |
probably null |
Het |
Zan |
C |
A |
5: 137,418,251 (GRCm39) |
C2949F |
unknown |
Het |
Zbed4 |
T |
C |
15: 88,665,080 (GRCm39) |
S383P |
probably benign |
Het |
Zfand5 |
T |
A |
19: 21,253,895 (GRCm39) |
C33S |
probably damaging |
Het |
Zfp12 |
A |
G |
5: 143,230,984 (GRCm39) |
Y437C |
probably damaging |
Het |
Zfp451 |
A |
C |
1: 33,852,849 (GRCm39) |
S22A |
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 |
100,824,240 (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 |
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'- TCCCTGTAAAGACCCCTTGGATGC -3'
(R):5'- GTTAGTGTAGAACCTGCCGACTGTG -3'
Sequencing Primer
(F):5'- atagctctggctgaactcac -3'
(R):5'- GGTCTCCAGGTTGCTCAG -3'
|
Posted On |
2014-05-23 |