Incidental Mutation 'R1845:Cachd1'
ID |
207623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cachd1
|
Ensembl Gene |
ENSMUSG00000028532 |
Gene Name |
cache domain containing 1 |
Synonyms |
Vwcd1, 1190007F10Rik, B430218L07Rik |
MMRRC Submission |
039870-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R1845 (G1)
|
Quality Score |
88 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
100633870-100861741 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100634555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 77
(V77A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030257]
[ENSMUST00000097955]
|
AlphaFold |
Q6PDJ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030257
AA Change: V77A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000030257 Gene: ENSMUSG00000028532 AA Change: V77A
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 benign
Transcript: ENSMUST00000097955
AA Change: V77A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000095568 Gene: ENSMUSG00000028532 AA Change: V77A
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: 95.0%
- 20x: 91.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
CGGG |
CGGGGGG |
15: 76,833,863 (GRCm39) |
|
probably benign |
Het |
Abca17 |
A |
T |
17: 24,486,690 (GRCm39) |
C1446S |
probably damaging |
Het |
Asb16 |
C |
A |
11: 102,167,582 (GRCm39) |
A316E |
possibly damaging |
Het |
Axdnd1 |
C |
T |
1: 156,204,114 (GRCm39) |
V384I |
possibly damaging |
Het |
BC024139 |
A |
T |
15: 76,009,461 (GRCm39) |
L207* |
probably null |
Het |
Bcl3 |
T |
G |
7: 19,543,552 (GRCm39) |
S305R |
probably damaging |
Het |
Cd101 |
C |
T |
3: 100,936,764 (GRCm39) |
|
probably null |
Het |
Cela1 |
T |
C |
15: 100,583,048 (GRCm39) |
N64S |
probably benign |
Het |
Cep128 |
T |
C |
12: 91,256,372 (GRCm39) |
D366G |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,604,823 (GRCm39) |
V675A |
probably benign |
Het |
Copg1 |
A |
G |
6: 87,870,800 (GRCm39) |
Y201C |
probably damaging |
Het |
Cyp24a1 |
T |
C |
2: 170,329,837 (GRCm39) |
R372G |
probably benign |
Het |
Dcaf1 |
A |
C |
9: 106,729,161 (GRCm39) |
I567L |
probably benign |
Het |
Dcn |
A |
G |
10: 97,342,536 (GRCm39) |
D164G |
probably benign |
Het |
Dnase2a |
T |
A |
8: 85,635,951 (GRCm39) |
H113Q |
probably benign |
Het |
Espl1 |
T |
C |
15: 102,207,448 (GRCm39) |
V304A |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,600,716 (GRCm39) |
D315G |
possibly damaging |
Het |
Fkbp8 |
T |
A |
8: 70,983,685 (GRCm39) |
|
probably null |
Het |
Foxp4 |
T |
A |
17: 48,188,884 (GRCm39) |
T321S |
probably null |
Het |
Fut10 |
A |
G |
8: 31,726,328 (GRCm39) |
N361S |
probably damaging |
Het |
Gyg1 |
A |
T |
3: 20,205,286 (GRCm39) |
V94D |
probably damaging |
Het |
Has2 |
T |
C |
15: 56,531,974 (GRCm39) |
K247R |
probably damaging |
Het |
Helz2 |
G |
T |
2: 180,873,878 (GRCm39) |
D2205E |
probably benign |
Het |
Hps6 |
T |
A |
19: 45,993,409 (GRCm39) |
S449T |
probably benign |
Het |
Ints10 |
T |
C |
8: 69,247,323 (GRCm39) |
Y64H |
probably damaging |
Het |
Kalrn |
T |
C |
16: 34,177,331 (GRCm39) |
H278R |
probably damaging |
Het |
Klhdc8a |
T |
C |
1: 132,231,548 (GRCm39) |
V280A |
possibly damaging |
Het |
Klk1b5 |
A |
G |
7: 43,869,549 (GRCm39) |
M210V |
probably benign |
Het |
Kmt2c |
G |
A |
5: 25,578,434 (GRCm39) |
A614V |
probably benign |
Het |
Lck |
T |
A |
4: 129,451,879 (GRCm39) |
I45F |
probably benign |
Het |
Lin7a |
A |
C |
10: 107,247,920 (GRCm39) |
E75A |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,414,542 (GRCm39) |
C1070S |
probably damaging |
Het |
Mapk8ip3 |
G |
T |
17: 25,133,557 (GRCm39) |
N289K |
probably benign |
Het |
Mbtps1 |
T |
C |
8: 120,249,232 (GRCm39) |
D686G |
probably benign |
Het |
Mknk1 |
T |
A |
4: 115,730,428 (GRCm39) |
C178* |
probably null |
Het |
Mtmr6 |
A |
G |
14: 60,534,184 (GRCm39) |
N474S |
probably damaging |
Het |
Mvb12b |
A |
G |
2: 33,730,169 (GRCm39) |
|
probably null |
Het |
Myh6 |
T |
C |
14: 55,182,131 (GRCm39) |
K1759R |
probably damaging |
Het |
Nfatc1 |
T |
C |
18: 80,678,746 (GRCm39) |
K881E |
possibly damaging |
Het |
Nlrp10 |
A |
G |
7: 108,526,248 (GRCm39) |
F30S |
probably damaging |
Het |
Nop14 |
G |
T |
5: 34,807,672 (GRCm39) |
A430E |
possibly damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Or1j18 |
A |
T |
2: 36,624,854 (GRCm39) |
I174F |
probably damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,211 (GRCm39) |
I134V |
probably damaging |
Het |
Or4c108 |
A |
G |
2: 88,803,482 (GRCm39) |
V251A |
probably benign |
Het |
Or6c205 |
A |
G |
10: 129,086,463 (GRCm39) |
E20G |
probably benign |
Het |
Or6c88 |
A |
T |
10: 129,407,217 (GRCm39) |
Q231L |
probably damaging |
Het |
Or7g17 |
A |
T |
9: 18,768,782 (GRCm39) |
Y287F |
possibly damaging |
Het |
Osbpl7 |
C |
A |
11: 96,949,954 (GRCm39) |
S378R |
probably damaging |
Het |
Otof |
A |
T |
5: 30,529,067 (GRCm39) |
Y1775* |
probably null |
Het |
Parp16 |
T |
C |
9: 65,122,876 (GRCm39) |
S46P |
possibly damaging |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Pi16 |
A |
T |
17: 29,538,361 (GRCm39) |
Q58L |
possibly damaging |
Het |
Pld3 |
C |
A |
7: 27,238,877 (GRCm39) |
M190I |
probably benign |
Het |
Plscr4 |
T |
G |
9: 92,372,099 (GRCm39) |
I290S |
probably damaging |
Het |
Ppip5k2 |
T |
C |
1: 97,651,531 (GRCm39) |
D928G |
possibly damaging |
Het |
Ppp1r13l |
T |
A |
7: 19,102,536 (GRCm39) |
L15Q |
probably damaging |
Het |
Prorp |
T |
A |
12: 55,351,117 (GRCm39) |
I142N |
possibly damaging |
Het |
Ptpn14 |
C |
A |
1: 189,571,699 (GRCm39) |
S263R |
possibly damaging |
Het |
Sema7a |
G |
A |
9: 57,862,182 (GRCm39) |
V178I |
possibly damaging |
Het |
Sesn2 |
A |
T |
4: 132,224,381 (GRCm39) |
Y342* |
probably null |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sltm |
A |
G |
9: 70,450,314 (GRCm39) |
N38S |
possibly damaging |
Het |
Smg1 |
T |
C |
7: 117,753,845 (GRCm39) |
|
probably benign |
Het |
Spsb1 |
A |
T |
4: 149,991,367 (GRCm39) |
V67E |
probably damaging |
Het |
Suox |
A |
G |
10: 128,506,408 (GRCm39) |
V540A |
possibly damaging |
Het |
Tbc1d12 |
T |
A |
19: 38,899,529 (GRCm39) |
I483N |
probably damaging |
Het |
Tbcb |
A |
T |
7: 29,923,924 (GRCm39) |
D198E |
possibly damaging |
Het |
Tbce |
T |
C |
13: 14,194,294 (GRCm39) |
K122E |
probably benign |
Het |
Tcap |
T |
A |
11: 98,275,205 (GRCm39) |
L113H |
probably damaging |
Het |
Thsd7a |
A |
T |
6: 12,321,040 (GRCm39) |
I1545N |
probably damaging |
Het |
Tmed10 |
T |
C |
12: 85,421,277 (GRCm39) |
T55A |
possibly damaging |
Het |
Tmem268 |
T |
A |
4: 63,498,180 (GRCm39) |
V200D |
probably damaging |
Het |
Tmem45b |
A |
C |
9: 31,342,651 (GRCm39) |
I50M |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,286,468 (GRCm39) |
W1103R |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,594,377 (GRCm39) |
V20524M |
probably damaging |
Het |
Ulk2 |
A |
T |
11: 61,703,564 (GRCm39) |
N379K |
probably benign |
Het |
Vmn1r59 |
A |
G |
7: 5,457,553 (GRCm39) |
V69A |
probably benign |
Het |
Vmn2r10 |
A |
T |
5: 109,149,861 (GRCm39) |
Y394* |
probably null |
Het |
Zfp212 |
T |
C |
6: 47,908,475 (GRCm39) |
S485P |
probably benign |
Het |
Zfp512b |
A |
T |
2: 181,227,528 (GRCm39) |
C776S |
probably damaging |
Het |
Zfp518b |
A |
G |
5: 38,829,084 (GRCm39) |
Y974H |
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 |
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'- AGTTTTCCAGCTACAGCCGC -3'
(R):5'- CAGCGGCAAATGAGTACACG -3'
Sequencing Primer
(F):5'- AAAGTTTGGCGGGCTGC -3'
(R):5'- TACACGGGACAGAGAGCACTG -3'
|
Posted On |
2014-06-23 |