Incidental Mutation 'R3792:Vwa7'
| ID |
272612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa7
|
| Ensembl Gene |
ENSMUSG00000007030 |
| Gene Name |
von Willebrand factor A domain containing 7 |
| Synonyms |
G7c, D17H6S56E-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3792 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35235555-35245717 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3446 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 35244135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000007250]
[ENSMUST00000040151]
[ENSMUST00000097338]
[ENSMUST00000172499]
[ENSMUST00000172536]
[ENSMUST00000174037]
[ENSMUST00000174117]
[ENSMUST00000174603]
|
| AlphaFold |
Q9JHA8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007245
AA Change: S843P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: S843P
| 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 null
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 null
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 null
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 damaging
Transcript: ENSMUST00000172499
AA Change: S822P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: S822P
| 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: 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: ENSMUST00000174026
|
| SMART Domains |
Protein: ENSMUSP00000134295
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
MUTSac
|
1 |
166 |
4e-36 |
SMART |
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
A |
G |
X: 80,464,423 (GRCm39) |
V428A |
probably benign |
Het |
| Aanat |
T |
C |
11: 116,487,057 (GRCm39) |
L88P |
probably damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,566,671 (GRCm39) |
N1214I |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,117,543 (GRCm39) |
S192T |
probably damaging |
Het |
| Bco1 |
G |
A |
8: 117,857,415 (GRCm39) |
V461I |
possibly damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cripto |
C |
T |
9: 110,772,258 (GRCm39) |
R46Q |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,432,725 (GRCm39) |
R1199C |
probably damaging |
Het |
| Dcaf12l1 |
T |
C |
X: 43,877,313 (GRCm39) |
N495S |
possibly damaging |
Het |
| Dop1b |
C |
A |
16: 93,568,734 (GRCm39) |
Q1599K |
possibly damaging |
Het |
| Dyrk1a |
C |
A |
16: 94,485,933 (GRCm39) |
L427I |
probably benign |
Het |
| Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
| Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,328,971 (GRCm39) |
|
probably null |
Het |
| Fam135a |
T |
C |
1: 24,067,392 (GRCm39) |
Y259C |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,666,533 (GRCm39) |
|
probably null |
Het |
| Fbxo43 |
T |
C |
15: 36,163,005 (GRCm39) |
I67M |
probably benign |
Het |
| Gcfc2 |
G |
T |
6: 81,907,748 (GRCm39) |
C154F |
probably benign |
Het |
| Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
| Ilk |
G |
A |
7: 105,391,294 (GRCm39) |
W73* |
probably null |
Het |
| Ism1 |
T |
C |
2: 139,582,173 (GRCm39) |
S162P |
probably damaging |
Het |
| Itpkb |
T |
A |
1: 180,160,738 (GRCm39) |
L288Q |
possibly damaging |
Het |
| Itpr2 |
C |
A |
6: 146,316,852 (GRCm39) |
K306N |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,374,540 (GRCm39) |
E864K |
possibly damaging |
Het |
| Kdm4b |
G |
A |
17: 56,662,944 (GRCm39) |
V172M |
probably damaging |
Het |
| Kyat3 |
A |
T |
3: 142,443,605 (GRCm39) |
K406M |
probably null |
Het |
| Lipe |
T |
A |
7: 25,097,045 (GRCm39) |
K299N |
possibly damaging |
Het |
| Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
| Mptx2 |
T |
A |
1: 173,102,240 (GRCm39) |
I150F |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,953,102 (GRCm39) |
W612L |
probably damaging |
Het |
| Mucl2 |
T |
C |
15: 103,928,692 (GRCm39) |
T27A |
possibly damaging |
Het |
| Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
| Oprm1 |
T |
C |
10: 6,789,544 (GRCm39) |
S390P |
probably benign |
Het |
| Or2m12 |
A |
G |
16: 19,104,696 (GRCm39) |
S266P |
possibly damaging |
Het |
| Or51v8 |
A |
T |
7: 103,319,353 (GRCm39) |
I295N |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,715 (GRCm39) |
L607P |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,671,721 (GRCm39) |
I133N |
probably damaging |
Het |
| Rasl10a |
T |
C |
11: 5,009,461 (GRCm39) |
L83S |
probably damaging |
Het |
| Satb2 |
C |
T |
1: 56,884,779 (GRCm39) |
V382M |
probably damaging |
Het |
| Sh3gl1 |
T |
C |
17: 56,325,949 (GRCm39) |
K160R |
probably damaging |
Het |
| Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,704,622 (GRCm39) |
I454T |
probably damaging |
Het |
| Stag3 |
A |
G |
5: 138,296,611 (GRCm39) |
K490E |
probably benign |
Het |
| Tcstv7b |
G |
T |
13: 120,702,467 (GRCm39) |
V88F |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,600,155 (GRCm39) |
K95R |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
| Ttc21a |
A |
T |
9: 119,783,231 (GRCm39) |
E511V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,232 (GRCm39) |
F25258L |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,639,290 (GRCm39) |
C13828G |
probably damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,573 (GRCm39) |
M238L |
probably damaging |
Het |
| Vmn1r38 |
A |
G |
6: 66,753,891 (GRCm39) |
I75T |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,669 (GRCm39) |
*850C |
probably null |
Het |
| Zfp128 |
T |
A |
7: 12,618,659 (GRCm39) |
D52E |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,033,728 (GRCm39) |
|
probably benign |
Het |
| Zkscan2 |
T |
A |
7: 123,084,225 (GRCm39) |
E633V |
possibly damaging |
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 |
|
R1766:Vwa7
|
UTSW |
17 |
35,242,919 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- ATGGTGACTGTGACTGCAGC -3'
(R):5'- AAAATGGGGCTTGATGTCCTG -3'
Sequencing Primer
(F):5'- TGACTGTGACTGCAGCAGGTC -3'
(R):5'- CCTGTTCCTGTGTTACCAGGAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation