Incidental Mutation 'R1659:Vwa7'
| ID |
186626 |
| 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 |
039695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1659 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35235555-35245717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35238047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 216
(L216P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000087315]
[ENSMUST00000172499]
[ENSMUST00000173584]
|
| AlphaFold |
Q9JHA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007245
AA Change: L216P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: L216P
| 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: ENSMUST00000087315
|
| SMART Domains |
Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
2 |
81 |
5.7e-16 |
PFAM |
|
Pfam:GST_C
|
107 |
198 |
7.3e-13 |
PFAM |
|
low complexity region
|
234 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
307 |
938 |
2e-197 |
PFAM |
|
Pfam:tRNA-synt_1g
|
336 |
496 |
6e-6 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
555 |
623 |
1.9e-11 |
PFAM |
|
Pfam:Anticodon_1
|
983 |
1138 |
2.6e-34 |
PFAM |
|
low complexity region
|
1153 |
1174 |
N/A |
INTRINSIC |
|
low complexity region
|
1207 |
1225 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172499
AA Change: L216P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: L216P
| 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 |
noncoding transcript
Transcript: ENSMUST00000172637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172999
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173142
|
| SMART Domains |
Protein: ENSMUSP00000134669
Gene: ENSMUSG00000007029
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gaxa3
|
32 |
67 |
3e-7 |
SMART |
|
PDB:1IYW|B
|
36 |
122 |
4e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173302
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174084
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173584
|
| SMART Domains |
Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
89 |
N/A |
INTRINSIC |
|
Pfam:GST_C
|
96 |
198 |
7.8e-14 |
PFAM |
|
low complexity region
|
234 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
307 |
938 |
1.9e-200 |
PFAM |
|
Pfam:tRNA-synt_1g
|
336 |
493 |
2.1e-7 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
555 |
623 |
1.1e-12 |
PFAM |
|
Pfam:Anticodon_1
|
983 |
1138 |
7.2e-36 |
PFAM |
|
low complexity region
|
1153 |
1174 |
N/A |
INTRINSIC |
|
coiled coil region
|
1197 |
1225 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
A |
5: 4,114,633 (GRCm39) |
L87Q |
probably damaging |
Het |
| Atp13a5 |
T |
G |
16: 29,112,251 (GRCm39) |
D630A |
probably benign |
Het |
| Brd7 |
G |
T |
8: 89,060,420 (GRCm39) |
P568T |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,885,027 (GRCm39) |
L538P |
probably benign |
Het |
| Cd177 |
G |
T |
7: 24,445,562 (GRCm39) |
T627K |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdhr2 |
T |
A |
13: 54,867,574 (GRCm39) |
I468N |
probably damaging |
Het |
| Cdk14 |
T |
C |
5: 4,999,571 (GRCm39) |
T338A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,321,411 (GRCm39) |
T467I |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,554,581 (GRCm39) |
E380G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,511,246 (GRCm39) |
T158N |
probably benign |
Het |
| Ddx51 |
T |
A |
5: 110,802,986 (GRCm39) |
I254N |
probably damaging |
Het |
| Deptor |
G |
A |
15: 55,081,670 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 118,084,459 (GRCm39) |
H1215L |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,390,972 (GRCm39) |
Y744C |
probably damaging |
Het |
| Dok7 |
C |
T |
5: 35,236,483 (GRCm39) |
T257I |
possibly damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,499,811 (GRCm39) |
Y591H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,479 (GRCm39) |
T2508A |
possibly damaging |
Het |
| Gm266 |
A |
G |
12: 111,451,723 (GRCm39) |
V161A |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,707,979 (GRCm39) |
I107V |
probably benign |
Het |
| Gpnmb |
T |
C |
6: 49,024,786 (GRCm39) |
F273L |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,112,610 (GRCm39) |
Q858L |
probably damaging |
Het |
| Hcrtr1 |
G |
T |
4: 130,029,129 (GRCm39) |
Y224* |
probably null |
Het |
| Hepacam |
A |
G |
9: 37,291,954 (GRCm39) |
D94G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,784,853 (GRCm39) |
H1432Q |
probably benign |
Het |
| Il20 |
T |
A |
1: 130,836,086 (GRCm39) |
|
probably null |
Het |
| Itga10 |
A |
G |
3: 96,570,293 (GRCm39) |
T1150A |
probably damaging |
Het |
| Itgax |
C |
T |
7: 127,730,063 (GRCm39) |
T73I |
probably benign |
Het |
| Kdm6b |
T |
A |
11: 69,298,414 (GRCm39) |
Q98L |
possibly damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,867,045 (GRCm39) |
W899R |
probably damaging |
Het |
| Meikin |
C |
A |
11: 54,281,392 (GRCm39) |
S154* |
probably null |
Het |
| Mrgprg |
A |
T |
7: 143,318,288 (GRCm39) |
S275T |
possibly damaging |
Het |
| Mstn |
C |
T |
1: 53,103,236 (GRCm39) |
R191* |
probably null |
Het |
| Neu3 |
A |
G |
7: 99,462,640 (GRCm39) |
I361T |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 90,299,165 (GRCm39) |
D425G |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,211,723 (GRCm39) |
M1688K |
probably benign |
Het |
| Omg |
C |
T |
11: 79,393,726 (GRCm39) |
C44Y |
possibly damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,759 (GRCm39) |
Q88L |
probably benign |
Het |
| Or52n3 |
A |
G |
7: 104,530,387 (GRCm39) |
M158V |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,005,574 (GRCm39) |
D938G |
probably damaging |
Het |
| Pp2d1 |
T |
C |
17: 53,822,406 (GRCm39) |
D220G |
possibly damaging |
Het |
| Prune2 |
C |
T |
19: 17,098,015 (GRCm39) |
T1173I |
possibly damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,384,981 (GRCm39) |
T359A |
probably damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,076,466 (GRCm39) |
Y339C |
probably damaging |
Het |
| Rpl7a-ps3 |
A |
G |
15: 36,308,309 (GRCm39) |
|
noncoding transcript |
Het |
| Sars1 |
T |
C |
3: 108,336,732 (GRCm39) |
E217G |
probably damaging |
Het |
| Sec61a2 |
A |
G |
2: 5,891,345 (GRCm39) |
F62S |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,938,790 (GRCm39) |
I189N |
probably damaging |
Het |
| Slc5a10 |
G |
A |
11: 61,567,070 (GRCm39) |
A375V |
possibly damaging |
Het |
| Srfbp1 |
C |
T |
18: 52,621,967 (GRCm39) |
H343Y |
possibly damaging |
Het |
| Tbck |
T |
G |
3: 132,440,116 (GRCm39) |
I486M |
probably damaging |
Het |
| Thra |
G |
A |
11: 98,647,805 (GRCm39) |
A60T |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,504,063 (GRCm39) |
T364S |
possibly damaging |
Het |
| Ttc16 |
C |
T |
2: 32,652,547 (GRCm39) |
D761N |
probably benign |
Het |
| Ydjc |
T |
C |
16: 16,965,703 (GRCm39) |
V156A |
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 |
|
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 |
|
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'- CAGACATCCAAATGGTGACCCTGAG -3'
(R):5'- TGCCCAGGCAACAGAGAATGAC -3'
Sequencing Primer
(F):5'- CCCTGAGGTTTAGTGCAAAAAGC -3'
(R):5'- ggatctgatgccctcttctg -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation