Incidental Mutation 'R8085:Cachd1'
| ID |
629576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cachd1
|
| Ensembl Gene |
ENSMUSG00000028532 |
| Gene Name |
cache domain containing 1 |
| Synonyms |
Vwcd1, 1190007F10Rik, B430218L07Rik |
| MMRRC Submission |
067518-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
R8085 (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 100845361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 951
(G951D)
|
| 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: G951D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: G951D
| 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: G951D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: G951D
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.0%
|
| Validation Efficiency |
99% (81/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
G |
T |
9: 30,854,611 (GRCm39) |
R160L |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,895,185 (GRCm39) |
S908P |
probably benign |
Het |
| AW146154 |
C |
T |
7: 41,130,621 (GRCm39) |
G165D |
possibly damaging |
Het |
| AW146154 |
C |
A |
7: 41,130,622 (GRCm39) |
G165C |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,435,683 (GRCm39) |
N250D |
probably benign |
Het |
| Coch |
G |
C |
12: 51,650,031 (GRCm39) |
G340A |
possibly damaging |
Het |
| Col18a1 |
A |
G |
10: 76,924,741 (GRCm39) |
V226A |
unknown |
Het |
| Crocc2 |
G |
A |
1: 93,130,578 (GRCm39) |
R953Q |
possibly damaging |
Het |
| Dgkh |
A |
T |
14: 78,824,558 (GRCm39) |
|
probably null |
Het |
| Disp2 |
C |
T |
2: 118,617,452 (GRCm39) |
L149F |
possibly damaging |
Het |
| Dpt |
T |
C |
1: 164,650,756 (GRCm39) |
F186S |
probably damaging |
Het |
| Eif3l |
T |
G |
15: 78,961,066 (GRCm39) |
Y40D |
probably damaging |
Het |
| Epha3 |
A |
C |
16: 63,403,873 (GRCm39) |
Y743D |
probably damaging |
Het |
| Ercc6l2 |
A |
T |
13: 63,992,367 (GRCm39) |
Y272F |
probably benign |
Het |
| Exoc2 |
G |
A |
13: 31,124,686 (GRCm39) |
L9F |
probably damaging |
Het |
| Fkbp9 |
A |
G |
6: 56,833,289 (GRCm39) |
T259A |
probably benign |
Het |
| Gm5622 |
A |
T |
14: 51,895,201 (GRCm39) |
K120M |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,795,679 (GRCm39) |
F2250Y |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,879,427 (GRCm39) |
I4682V |
probably benign |
Het |
| Hnf1a |
T |
C |
5: 115,108,732 (GRCm39) |
T58A |
probably benign |
Het |
| Kctd1 |
T |
A |
18: 15,140,901 (GRCm39) |
I610F |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,075,178 (GRCm39) |
D478E |
probably benign |
Het |
| Klf13 |
G |
T |
7: 63,541,497 (GRCm39) |
A210E |
probably damaging |
Het |
| Klhl20 |
C |
A |
1: 160,921,354 (GRCm39) |
G543C |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,855,715 (GRCm39) |
T699A |
possibly damaging |
Het |
| Lgr5 |
A |
T |
10: 115,311,102 (GRCm39) |
D231E |
probably benign |
Het |
| Lonrf1 |
C |
A |
8: 36,715,769 (GRCm39) |
G289W |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,808,894 (GRCm39) |
L188P |
probably damaging |
Het |
| Mab21l2 |
T |
C |
3: 86,455,393 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,303,875 (GRCm39) |
V209A |
possibly damaging |
Het |
| Mctp1 |
A |
C |
13: 76,972,972 (GRCm39) |
R658S |
probably benign |
Het |
| Mdfi |
T |
C |
17: 48,127,042 (GRCm39) |
T178A |
probably damaging |
Het |
| Msln |
T |
A |
17: 25,971,942 (GRCm39) |
K92* |
probably null |
Het |
| Msx3 |
T |
C |
7: 139,627,998 (GRCm39) |
H113R |
unknown |
Het |
| Muc6 |
T |
A |
7: 141,226,729 (GRCm39) |
T1433S |
unknown |
Het |
| Musk |
T |
A |
4: 58,373,110 (GRCm39) |
S693R |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,225,613 (GRCm39) |
K296R |
probably benign |
Het |
| Mylip |
A |
T |
13: 45,563,928 (GRCm39) |
H427L |
possibly damaging |
Het |
| Nradd |
G |
T |
9: 110,451,179 (GRCm39) |
T63K |
possibly damaging |
Het |
| Ntaq1 |
T |
G |
15: 58,015,983 (GRCm39) |
|
probably null |
Het |
| Or5h17 |
A |
G |
16: 58,820,432 (GRCm39) |
N128S |
probably benign |
Het |
| Or5p66 |
G |
T |
7: 107,885,620 (GRCm39) |
Q238K |
probably benign |
Het |
| Osbp2 |
A |
G |
11: 3,662,521 (GRCm39) |
L187P |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,158,350 (GRCm39) |
D428G |
probably damaging |
Het |
| Oxsm |
G |
T |
14: 16,242,439 (GRCm38) |
S110* |
probably null |
Het |
| Pard6a |
A |
G |
8: 106,429,642 (GRCm39) |
Q230R |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,683,639 (GRCm39) |
W38L |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,905,384 (GRCm39) |
N1093D |
probably damaging |
Het |
| Rttn |
C |
T |
18: 89,071,672 (GRCm39) |
Q1240* |
probably null |
Het |
| Serpina1d |
T |
C |
12: 103,730,087 (GRCm39) |
E365G |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,814,462 (GRCm39) |
H1589Q |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,957,528 (GRCm39) |
I152N |
probably damaging |
Het |
| Slc44a5 |
C |
T |
3: 153,928,414 (GRCm39) |
P59S |
probably damaging |
Het |
| Smarca4 |
T |
A |
9: 21,570,108 (GRCm39) |
|
probably null |
Het |
| Smim33 |
A |
T |
18: 35,861,573 (GRCm39) |
D19V |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,989,870 (GRCm39) |
Y930C |
probably benign |
Het |
| Speg |
A |
G |
1: 75,391,997 (GRCm39) |
E1593G |
probably damaging |
Het |
| St3gal5 |
G |
T |
6: 72,074,925 (GRCm39) |
A62S |
unknown |
Het |
| Stx1a |
T |
C |
5: 135,066,431 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
A |
10: 5,178,021 (GRCm39) |
I4818F |
possibly damaging |
Het |
| Tango6 |
A |
G |
8: 107,447,366 (GRCm39) |
H588R |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,336,307 (GRCm39) |
Y454C |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,066,753 (GRCm39) |
Y2282H |
probably benign |
Het |
| Tle6 |
A |
T |
10: 81,431,792 (GRCm39) |
W151R |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,834,438 (GRCm39) |
M715K |
possibly damaging |
Het |
| Ubr1 |
T |
A |
2: 120,764,898 (GRCm39) |
R519* |
probably null |
Het |
| Usp1 |
A |
T |
4: 98,816,578 (GRCm39) |
N93I |
probably damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,953 (GRCm39) |
M238K |
probably damaging |
Het |
| Vmn1r238 |
A |
G |
18: 3,123,151 (GRCm39) |
Y88H |
probably damaging |
Het |
| Vmn2r62 |
A |
G |
7: 42,437,270 (GRCm39) |
Y405H |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,603,998 (GRCm39) |
I725M |
probably benign |
Het |
| Zfp12 |
C |
T |
5: 143,230,681 (GRCm39) |
T368M |
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 |
|
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 |
|
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'- TCTTTTCTGCAAGAACGCTAAG -3'
(R):5'- AGGCTCCTGTAAACCTGGAC -3'
Sequencing Primer
(F):5'- GCCTTTAATCCTAGCAATCGAGAGG -3'
(R):5'- CCTGTAAACCTGGACTTCCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation