Incidental Mutation 'R7922:Vwa7'
| ID |
648490 |
| 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 |
045969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R7922 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35235555-35245717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35243409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 717
(A717S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000007250]
[ENSMUST00000040151]
[ENSMUST00000097338]
[ENSMUST00000172499]
[ENSMUST00000172536]
[ENSMUST00000174037]
[ENSMUST00000174117]
[ENSMUST00000174603]
|
| AlphaFold |
Q9JHA8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007245
AA Change: A717S
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: A717S
| 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 |
possibly damaging
Transcript: ENSMUST00000172499
AA Change: A696S
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: A696S
| 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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,211,180 (GRCm39) |
T638M |
possibly damaging |
Het |
| 4930546C10Rik |
A |
G |
18: 69,083,067 (GRCm39) |
|
probably null |
Het |
| Abi3 |
A |
T |
11: 95,723,619 (GRCm39) |
Y342N |
unknown |
Het |
| Adk |
G |
A |
14: 21,368,111 (GRCm39) |
V195I |
probably benign |
Het |
| Ago2 |
C |
T |
15: 72,998,375 (GRCm39) |
V268M |
possibly damaging |
Het |
| Apaf1 |
T |
C |
10: 90,835,615 (GRCm39) |
I1077V |
probably benign |
Het |
| Arap1 |
A |
T |
7: 101,053,621 (GRCm39) |
K1317* |
probably null |
Het |
| Auts2 |
T |
A |
5: 131,469,211 (GRCm39) |
D493V |
|
Het |
| Baz1b |
A |
T |
5: 135,260,533 (GRCm39) |
Q1110L |
probably damaging |
Het |
| Brsk2 |
T |
A |
7: 141,546,957 (GRCm39) |
S467T |
possibly damaging |
Het |
| Btbd9 |
A |
T |
17: 30,493,858 (GRCm39) |
M511K |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,218,485 (GRCm39) |
Y1385F |
probably benign |
Het |
| Cfap100 |
A |
C |
6: 90,380,962 (GRCm39) |
L427V |
unknown |
Het |
| Cnga1 |
A |
G |
5: 72,762,225 (GRCm39) |
F430L |
possibly damaging |
Het |
| Csnk2a1-ps3 |
A |
T |
1: 156,352,562 (GRCm39) |
L254F |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,317,721 (GRCm39) |
D472V |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,598,154 (GRCm39) |
E339V |
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,764,280 (GRCm39) |
V379E |
probably damaging |
Het |
| Erich4 |
T |
A |
7: 25,315,168 (GRCm39) |
N36Y |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,560,725 (GRCm39) |
T1261A |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,503 (GRCm39) |
D223V |
probably damaging |
Het |
| Gabra2 |
A |
T |
5: 71,165,315 (GRCm39) |
Y218* |
probably null |
Het |
| Gcn1 |
G |
T |
5: 115,752,527 (GRCm39) |
M2177I |
probably benign |
Het |
| Ghr |
G |
A |
15: 3,370,556 (GRCm39) |
T103I |
possibly damaging |
Het |
| Gipc1 |
T |
C |
8: 84,387,857 (GRCm39) |
V79A |
probably benign |
Het |
| Gm13272 |
T |
A |
4: 88,698,577 (GRCm39) |
V164D |
probably damaging |
Het |
| Gramd4 |
C |
A |
15: 86,016,159 (GRCm39) |
H503Q |
probably benign |
Het |
| Gstm4 |
A |
T |
3: 107,951,987 (GRCm39) |
M1K |
probably null |
Het |
| Heatr5b |
T |
A |
17: 79,067,988 (GRCm39) |
Q1800L |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,836,978 (GRCm39) |
K826* |
probably null |
Het |
| Hoxa9 |
T |
C |
6: 52,201,289 (GRCm39) |
I251V |
possibly damaging |
Het |
| Il2ra |
A |
T |
2: 11,679,177 (GRCm39) |
I46F |
possibly damaging |
Het |
| Ints2 |
T |
A |
11: 86,135,453 (GRCm39) |
R320S |
probably benign |
Het |
| Iscu |
A |
T |
5: 113,912,343 (GRCm39) |
N46I |
probably damaging |
Het |
| Iscu |
G |
A |
5: 113,912,410 (GRCm39) |
R60Q |
unknown |
Het |
| Kcnk3 |
A |
T |
5: 30,745,875 (GRCm39) |
H72L |
probably damaging |
Het |
| Kmt2a |
T |
G |
9: 44,754,157 (GRCm39) |
S1228R |
unknown |
Het |
| Mbl2 |
T |
A |
19: 30,216,638 (GRCm39) |
L150Q |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,161,831 (GRCm39) |
F2166Y |
probably damaging |
Het |
| Mterf4 |
A |
C |
1: 93,229,275 (GRCm39) |
L246* |
probably null |
Het |
| Muc16 |
T |
C |
9: 18,496,121 (GRCm39) |
Q6690R |
probably benign |
Het |
| Myh10 |
T |
A |
11: 68,699,719 (GRCm39) |
L1722Q |
possibly damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,454 (GRCm39) |
M237V |
probably benign |
Het |
| Olfml1 |
A |
G |
7: 107,170,356 (GRCm39) |
Y81C |
probably damaging |
Het |
| Or4q3 |
A |
G |
14: 50,583,872 (GRCm39) |
V9A |
probably benign |
Het |
| Pcdhga7 |
A |
T |
18: 37,849,226 (GRCm39) |
N411I |
probably benign |
Het |
| Pcdhgb8 |
T |
C |
18: 37,897,002 (GRCm39) |
F691L |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,990,517 (GRCm39) |
V481A |
probably damaging |
Het |
| Pik3r6 |
A |
T |
11: 68,424,701 (GRCm39) |
R435S |
probably benign |
Het |
| Pkd1l1 |
G |
A |
11: 8,799,013 (GRCm39) |
H2250Y |
|
Het |
| Pkd1l1 |
A |
G |
11: 8,859,857 (GRCm39) |
S1034P |
|
Het |
| Plcd1 |
C |
A |
9: 118,903,720 (GRCm39) |
R400L |
possibly damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,174,879 (GRCm39) |
T58A |
probably benign |
Het |
| Ppp5c |
T |
C |
7: 16,761,725 (GRCm39) |
E5G |
possibly damaging |
Het |
| Pradc1 |
A |
C |
6: 85,424,950 (GRCm39) |
F82L |
probably benign |
Het |
| Prkag3 |
A |
T |
1: 74,780,416 (GRCm39) |
S416R |
probably benign |
Het |
| Rab3gap2 |
T |
C |
1: 184,982,117 (GRCm39) |
C390R |
probably benign |
Het |
| Rhot1 |
A |
G |
11: 80,156,629 (GRCm39) |
T655A |
probably benign |
Het |
| Rorc |
A |
G |
3: 94,298,495 (GRCm39) |
I348V |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,796,649 (GRCm39) |
V1051E |
probably benign |
Het |
| Sema5b |
GCAC |
GC |
16: 35,478,626 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
G |
A |
1: 107,199,744 (GRCm39) |
T259I |
probably damaging |
Het |
| Sh3gl1 |
A |
T |
17: 56,326,438 (GRCm39) |
M70K |
probably damaging |
Het |
| Sinhcaf |
T |
A |
6: 148,827,644 (GRCm39) |
T125S |
probably benign |
Het |
| Slc7a4 |
C |
T |
16: 17,391,230 (GRCm39) |
V607I |
probably benign |
Het |
| Spop |
A |
T |
11: 95,362,154 (GRCm39) |
N62Y |
probably damaging |
Het |
| Spout1 |
A |
G |
2: 30,066,823 (GRCm39) |
F130S |
probably benign |
Het |
| Tab1 |
A |
G |
15: 80,043,066 (GRCm39) |
H420R |
possibly damaging |
Het |
| Tecpr2 |
CA |
C |
12: 110,899,076 (GRCm39) |
|
probably null |
Het |
| Tnxb |
G |
C |
17: 34,933,577 (GRCm39) |
K2332N |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,014,512 (GRCm39) |
Y588H |
probably damaging |
Het |
| Trim71 |
G |
A |
9: 114,342,153 (GRCm39) |
R710C |
probably damaging |
Het |
| Tsen54 |
C |
T |
11: 115,711,608 (GRCm39) |
Q342* |
probably null |
Het |
| Ube2r2 |
T |
A |
4: 41,190,812 (GRCm39) |
N235K |
unknown |
Het |
| Utrn |
C |
A |
10: 12,543,271 (GRCm39) |
K1792N |
possibly damaging |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,587 (GRCm39) |
I156T |
possibly damaging |
Het |
| Vmn1r94 |
T |
C |
7: 19,901,636 (GRCm39) |
T223A |
possibly damaging |
Het |
| Vmn2r120 |
G |
A |
17: 57,831,683 (GRCm39) |
R369W |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,159,647 (GRCm39) |
C398S |
unknown |
Het |
| Zc3hc1 |
T |
A |
6: 30,390,874 (GRCm39) |
E43V |
possibly damaging |
Het |
| Zfp101 |
A |
T |
17: 33,600,511 (GRCm39) |
V415D |
possibly damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,768 (GRCm39) |
H441R |
probably 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 |
|
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 |
|
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'- ATGTTGTCCTTCGAAGGGTCC -3'
(R):5'- GTTCACCGATGTCCTAAGATCAAG -3'
Sequencing Primer
(F):5'- TCCTTCGAAGGGTCCCAGAG -3'
(R):5'- CGATGTCCTAAGATCAAGATCCTGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation