Incidental Mutation 'R1766:Vwa7'
| ID |
194417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa7
|
| Ensembl Gene |
ENSMUSG00000007030 |
| Gene Name |
von Willebrand factor A domain containing 7 |
| Synonyms |
G7c, D17H6S56E-3 |
| MMRRC Submission |
039798-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1766 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35235555-35245717 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 35242919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000007250]
[ENSMUST00000040151]
[ENSMUST00000097338]
[ENSMUST00000172499]
[ENSMUST00000172536]
[ENSMUST00000174037]
[ENSMUST00000174117]
[ENSMUST00000174603]
|
| AlphaFold |
Q9JHA8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000007245
|
| SMART Domains |
Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
VWA
|
314 |
499 |
2.59e0 |
SMART |
|
low complexity region
|
683 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
861 |
N/A |
INTRINSIC |
|
low complexity region
|
864 |
877 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007250
|
| SMART Domains |
Protein: ENSMUSP00000007250
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
568 |
9.72e-72 |
SMART |
|
MUTSac
|
584 |
775 |
2.2e-61 |
SMART |
|
Blast:MUTSac
|
795 |
833 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040151
|
| SMART Domains |
Protein: ENSMUSP00000047448
Gene: ENSMUSG00000036185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Suppressor_APC
|
35 |
114 |
2.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097338
|
| SMART Domains |
Protein: ENSMUSP00000094951
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
568 |
9.72e-72 |
SMART |
|
MUTSac
|
584 |
775 |
2.2e-61 |
SMART |
|
Blast:MUTSac
|
795 |
833 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172499
|
| SMART Domains |
Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
VWA
|
314 |
478 |
7.28e0 |
SMART |
|
low complexity region
|
662 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
840 |
N/A |
INTRINSIC |
|
low complexity region
|
843 |
856 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172536
|
| SMART Domains |
Protein: ENSMUSP00000134426
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
568 |
9.72e-72 |
SMART |
|
low complexity region
|
604 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174026
|
| SMART Domains |
Protein: ENSMUSP00000134295
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
MUTSac
|
1 |
166 |
4e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174037
|
| SMART Domains |
Protein: ENSMUSP00000133881
Gene: ENSMUSG00000036185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174117
|
| SMART Domains |
Protein: ENSMUSP00000134423
Gene: ENSMUSG00000036185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174603
|
| SMART Domains |
Protein: ENSMUSP00000134065
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
493 |
1.67e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
T |
C |
10: 42,330,491 (GRCm39) |
T59A |
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,412,656 (GRCm39) |
M1223L |
possibly damaging |
Het |
| Ankrd24 |
G |
A |
10: 81,474,472 (GRCm39) |
S68N |
probably benign |
Het |
| Arhgap31 |
A |
G |
16: 38,445,952 (GRCm39) |
I131T |
probably damaging |
Het |
| Arhgef10 |
A |
T |
8: 15,029,836 (GRCm39) |
I874F |
probably damaging |
Het |
| Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
| BC051665 |
G |
A |
13: 60,932,854 (GRCm39) |
H36Y |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,778,392 (GRCm39) |
D69G |
probably damaging |
Het |
| Chd6 |
G |
A |
2: 160,808,559 (GRCm39) |
L1552F |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,556,191 (GRCm39) |
H584R |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,343,179 (GRCm39) |
V1508I |
possibly damaging |
Het |
| Dpy19l4 |
C |
T |
4: 11,303,360 (GRCm39) |
G187D |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,015,526 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
A |
G |
19: 5,766,434 (GRCm39) |
V1303A |
probably damaging |
Het |
| Eif4e1b |
G |
A |
13: 54,934,704 (GRCm39) |
E182K |
probably damaging |
Het |
| Fam170b |
A |
T |
14: 32,557,843 (GRCm39) |
Q226L |
possibly damaging |
Het |
| Fam193a |
C |
T |
5: 34,619,475 (GRCm39) |
P760L |
probably damaging |
Het |
| Gabra5 |
A |
T |
7: 57,157,796 (GRCm39) |
L6H |
probably benign |
Het |
| Gabrq |
G |
A |
X: 71,876,989 (GRCm39) |
R161H |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm7334 |
T |
A |
17: 51,006,006 (GRCm39) |
D97E |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,215,395 (GRCm39) |
A286T |
probably damaging |
Het |
| Gsta4 |
C |
A |
9: 78,111,611 (GRCm39) |
Y79* |
probably null |
Het |
| Hcn1 |
T |
A |
13: 117,793,270 (GRCm39) |
V174D |
probably benign |
Het |
| Hic1 |
G |
T |
11: 75,056,620 (GRCm39) |
C756* |
probably null |
Het |
| Hivep3 |
C |
T |
4: 119,953,868 (GRCm39) |
T728I |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,752,561 (GRCm39) |
E1175G |
possibly damaging |
Het |
| Igsf3 |
T |
A |
3: 101,338,598 (GRCm39) |
L304Q |
probably damaging |
Het |
| Kpna6 |
T |
C |
4: 129,551,235 (GRCm39) |
D90G |
probably benign |
Het |
| Krt73 |
C |
T |
15: 101,702,363 (GRCm39) |
G500D |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,535,119 (GRCm39) |
K156E |
probably damaging |
Het |
| Mdm2 |
T |
C |
10: 117,531,927 (GRCm39) |
K94E |
probably damaging |
Het |
| Mitf |
T |
C |
6: 97,918,060 (GRCm39) |
S26P |
probably damaging |
Het |
| Myh4 |
C |
A |
11: 67,147,121 (GRCm39) |
Q1589K |
possibly damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,076,113 (GRCm39) |
V671E |
probably benign |
Het |
| Nop9 |
C |
T |
14: 55,989,591 (GRCm39) |
A407V |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,323,474 (GRCm39) |
H1366L |
probably damaging |
Het |
| Ntrk1 |
A |
T |
3: 87,685,825 (GRCm39) |
C766S |
probably damaging |
Het |
| Oog3 |
C |
T |
4: 143,885,692 (GRCm39) |
G302D |
possibly damaging |
Het |
| Or4q3 |
T |
C |
14: 50,583,677 (GRCm39) |
Y43C |
probably damaging |
Het |
| Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
| Or6c38 |
T |
C |
10: 128,929,616 (GRCm39) |
I76V |
probably benign |
Het |
| Or7g27 |
A |
G |
9: 19,250,154 (GRCm39) |
T133A |
probably benign |
Het |
| Pdzph1 |
C |
T |
17: 59,280,747 (GRCm39) |
V512I |
probably benign |
Het |
| Phf2 |
A |
C |
13: 48,973,033 (GRCm39) |
S408A |
unknown |
Het |
| Pigk |
T |
G |
3: 152,445,793 (GRCm39) |
L135V |
probably damaging |
Het |
| Ppp2ca |
C |
A |
11: 52,012,773 (GRCm39) |
T301N |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,024,741 (GRCm39) |
S253P |
probably damaging |
Het |
| Ptgfrn |
A |
T |
3: 100,957,438 (GRCm39) |
I712N |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 79,000,010 (GRCm39) |
D579E |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,325,976 (GRCm39) |
D769E |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,615,887 (GRCm39) |
C134S |
probably damaging |
Het |
| S100a1 |
A |
G |
3: 90,418,599 (GRCm39) |
F72L |
probably damaging |
Het |
| Scube1 |
T |
A |
15: 83,606,146 (GRCm39) |
D42V |
probably damaging |
Het |
| Sh3glb1 |
T |
C |
3: 144,418,446 (GRCm39) |
D39G |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,261,689 (GRCm39) |
T397A |
probably benign |
Het |
| Siglece |
G |
A |
7: 43,300,956 (GRCm39) |
T453M |
probably damaging |
Het |
| Slc26a1 |
G |
A |
5: 108,819,658 (GRCm39) |
R514W |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,685,093 (GRCm39) |
V156A |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,698,374 (GRCm39) |
V1134E |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,223,613 (GRCm39) |
Y222C |
probably damaging |
Het |
| Sorcs3 |
G |
T |
19: 48,592,314 (GRCm39) |
W326C |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
| Tex16 |
T |
C |
X: 111,150,782 (GRCm39) |
Y22H |
probably benign |
Het |
| Tiparp |
A |
T |
3: 65,439,470 (GRCm39) |
H80L |
probably damaging |
Het |
| Tmem71 |
T |
A |
15: 66,413,548 (GRCm39) |
T175S |
probably benign |
Het |
| Tmem87b |
T |
A |
2: 128,681,090 (GRCm39) |
V338D |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,240,004 (GRCm39) |
K445R |
probably damaging |
Het |
| Trim14 |
A |
G |
4: 46,522,039 (GRCm39) |
F213L |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,768 (GRCm39) |
S550T |
probably benign |
Het |
| Tufm |
A |
G |
7: 126,089,644 (GRCm39) |
D446G |
probably benign |
Het |
| Vipr1 |
A |
T |
9: 121,490,485 (GRCm39) |
Y177F |
possibly damaging |
Het |
| Vmn2r116 |
A |
C |
17: 23,620,740 (GRCm39) |
I825L |
probably damaging |
Het |
| Vmn2r12 |
G |
T |
5: 109,239,910 (GRCm39) |
Q218K |
probably damaging |
Het |
| Ywhae |
T |
C |
11: 75,646,491 (GRCm39) |
V119A |
probably damaging |
Het |
| Zfand5 |
A |
G |
19: 21,257,888 (GRCm39) |
R199G |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
| Zrsr2-ps1 |
A |
G |
11: 22,923,637 (GRCm39) |
D137G |
probably benign |
Het |
|
| Other mutations in Vwa7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01103:Vwa7
|
APN |
17 |
35,243,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01736:Vwa7
|
APN |
17 |
35,238,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01868:Vwa7
|
APN |
17 |
35,240,235 (GRCm39) |
missense |
probably null |
0.96 |
|
IGL01920:Vwa7
|
APN |
17 |
35,243,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02227:Vwa7
|
APN |
17 |
35,239,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Vwa7
|
APN |
17 |
35,242,476 (GRCm39) |
splice site |
probably null |
|
|
IGL03259:Vwa7
|
APN |
17 |
35,239,002 (GRCm39) |
splice site |
probably null |
|
|
IGL03263:Vwa7
|
APN |
17 |
35,240,575 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0008:Vwa7
|
UTSW |
17 |
35,238,781 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0057:Vwa7
|
UTSW |
17 |
35,243,523 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0057:Vwa7
|
UTSW |
17 |
35,243,523 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0418:Vwa7
|
UTSW |
17 |
35,236,933 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0538:Vwa7
|
UTSW |
17 |
35,241,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1121:Vwa7
|
UTSW |
17 |
35,236,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1659:Vwa7
|
UTSW |
17 |
35,238,047 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1777:Vwa7
|
UTSW |
17 |
35,243,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Vwa7
|
UTSW |
17 |
35,243,388 (GRCm39) |
nonsense |
probably null |
|
|
R1874:Vwa7
|
UTSW |
17 |
35,236,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2139:Vwa7
|
UTSW |
17 |
35,242,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2248:Vwa7
|
UTSW |
17 |
35,238,019 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2290:Vwa7
|
UTSW |
17 |
35,236,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2873:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2874:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3038:Vwa7
|
UTSW |
17 |
35,241,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:Vwa7
|
UTSW |
17 |
35,244,135 (GRCm39) |
splice site |
probably null |
|
|
R3970:Vwa7
|
UTSW |
17 |
35,236,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Vwa7
|
UTSW |
17 |
35,242,426 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5013:Vwa7
|
UTSW |
17 |
35,241,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Vwa7
|
UTSW |
17 |
35,243,166 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5069:Vwa7
|
UTSW |
17 |
35,243,166 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5070:Vwa7
|
UTSW |
17 |
35,243,166 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5137:Vwa7
|
UTSW |
17 |
35,236,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Vwa7
|
UTSW |
17 |
35,243,902 (GRCm39) |
splice site |
probably null |
|
|
R6170:Vwa7
|
UTSW |
17 |
35,240,186 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6229:Vwa7
|
UTSW |
17 |
35,243,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6249:Vwa7
|
UTSW |
17 |
35,242,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6401:Vwa7
|
UTSW |
17 |
35,236,286 (GRCm39) |
splice site |
probably null |
|
|
R6429:Vwa7
|
UTSW |
17 |
35,243,175 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6678:Vwa7
|
UTSW |
17 |
35,238,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6793:Vwa7
|
UTSW |
17 |
35,243,867 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6966:Vwa7
|
UTSW |
17 |
35,236,072 (GRCm39) |
missense |
probably benign |
|
|
R7492:Vwa7
|
UTSW |
17 |
35,238,020 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7903:Vwa7
|
UTSW |
17 |
35,236,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Vwa7
|
UTSW |
17 |
35,243,409 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8191:Vwa7
|
UTSW |
17 |
35,238,712 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8728:Vwa7
|
UTSW |
17 |
35,236,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8961:Vwa7
|
UTSW |
17 |
35,238,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9037:Vwa7
|
UTSW |
17 |
35,236,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9275:Vwa7
|
UTSW |
17 |
35,238,712 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATTCTGGACGGTGACCATGAC -3'
(R):5'- GGGTAAAAGGAATGTCTGGTCTCAGC -3'
Sequencing Primer
(F):5'- GTGACCATGACTGACCCTC -3'
(R):5'- GCTGGGCAGGGTCATAGG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation