Incidental Mutation 'R2139:Vwa7'
| ID |
236079 |
| 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 |
040142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R2139 (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 G
at 35242406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 503
(S503R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000040151]
[ENSMUST00000172499]
[ENSMUST00000174037]
[ENSMUST00000174117]
|
| AlphaFold |
Q9JHA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007245
AA Change: S524R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: S524R
| 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: 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: ENSMUST00000172499
AA Change: S503R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: S503R
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
T |
9: 46,215,593 (GRCm39) |
F318I |
probably damaging |
Het |
| Bfsp2 |
T |
C |
9: 103,327,074 (GRCm39) |
K221R |
probably benign |
Het |
| Cacna1b |
A |
C |
2: 24,569,485 (GRCm39) |
M813R |
probably benign |
Het |
| Chaf1a |
T |
C |
17: 56,372,226 (GRCm39) |
L798P |
probably damaging |
Het |
| Chd8 |
G |
A |
14: 52,474,428 (GRCm39) |
T201I |
probably benign |
Het |
| Col23a1 |
T |
C |
11: 51,464,861 (GRCm39) |
S436P |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,340,978 (GRCm39) |
I2248V |
probably benign |
Het |
| Cyp4f39 |
A |
G |
17: 32,710,163 (GRCm39) |
I440M |
probably benign |
Het |
| Dhcr24 |
G |
T |
4: 106,429,499 (GRCm39) |
E191* |
probably null |
Het |
| Dlg5 |
T |
C |
14: 24,220,612 (GRCm39) |
D522G |
probably damaging |
Het |
| Dnaja4 |
A |
T |
9: 54,616,506 (GRCm39) |
M170L |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,567,895 (GRCm39) |
S1441P |
possibly damaging |
Het |
| Efcab3 |
C |
T |
11: 104,642,737 (GRCm39) |
T1120I |
possibly damaging |
Het |
| Egr2 |
T |
A |
10: 67,376,702 (GRCm39) |
S383T |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,288,303 (GRCm39) |
D94G |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,385,788 (GRCm39) |
V267A |
probably damaging |
Het |
| Esp38 |
T |
A |
17: 40,264,275 (GRCm39) |
I11N |
probably damaging |
Het |
| Esrrb |
T |
C |
12: 86,468,740 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
A |
T |
5: 137,611,327 (GRCm39) |
S488T |
probably damaging |
Het |
| Fgfr1 |
T |
G |
8: 26,060,882 (GRCm39) |
V618G |
probably damaging |
Het |
| Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
| Gpr61 |
A |
T |
3: 108,058,077 (GRCm39) |
C195S |
probably damaging |
Het |
| Greb1l |
A |
C |
18: 10,555,011 (GRCm39) |
N1686H |
probably damaging |
Het |
| Hapln4 |
T |
C |
8: 70,540,788 (GRCm39) |
F274L |
probably benign |
Het |
| Hoxc10 |
A |
T |
15: 102,875,912 (GRCm39) |
Q207L |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,787,914 (GRCm39) |
V636A |
probably benign |
Het |
| Il22ra2 |
T |
A |
10: 19,508,618 (GRCm39) |
F215L |
probably benign |
Het |
| Il36b |
A |
G |
2: 24,044,672 (GRCm39) |
N24S |
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,389,117 (GRCm39) |
G930D |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,905,945 (GRCm39) |
D666G |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,371,639 (GRCm39) |
I70F |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,762,548 (GRCm39) |
I112F |
probably damaging |
Het |
| Lrrc8c |
T |
G |
5: 105,754,558 (GRCm39) |
I111S |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,862,753 (GRCm39) |
N600S |
probably damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
| Mroh5 |
T |
A |
15: 73,661,940 (GRCm39) |
D417V |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
| Mtarc1 |
G |
A |
1: 184,527,632 (GRCm39) |
T276I |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,581,599 (GRCm39) |
I2488N |
unknown |
Het |
| Myrf |
C |
G |
19: 10,193,831 (GRCm39) |
A532P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,996 (GRCm39) |
N427S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,102,600 (GRCm39) |
S4315G |
probably damaging |
Het |
| Nyap2 |
A |
G |
1: 81,218,983 (GRCm39) |
D335G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,251,755 (GRCm39) |
L225P |
probably benign |
Het |
| Or10z1 |
A |
T |
1: 174,078,302 (GRCm39) |
|
probably null |
Het |
| Or4c104 |
T |
A |
2: 88,586,437 (GRCm39) |
N194I |
probably damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,961 (GRCm39) |
I175K |
possibly damaging |
Het |
| Or8s2 |
T |
C |
15: 98,276,145 (GRCm39) |
N282S |
probably damaging |
Het |
| Pcdhac2 |
T |
G |
18: 37,279,139 (GRCm39) |
Y706* |
probably null |
Het |
| Pgbd1 |
A |
G |
13: 21,607,190 (GRCm39) |
S335P |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,393,214 (GRCm39) |
I1850L |
possibly damaging |
Het |
| Pogz |
T |
C |
3: 94,778,318 (GRCm39) |
V304A |
possibly damaging |
Het |
| Rap1a |
T |
C |
3: 105,646,856 (GRCm39) |
I100V |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,194,123 (GRCm39) |
K201M |
probably damaging |
Het |
| Slc6a1 |
T |
C |
6: 114,281,022 (GRCm39) |
F8S |
possibly damaging |
Het |
| St18 |
T |
G |
1: 6,880,839 (GRCm39) |
M444R |
possibly damaging |
Het |
| Syna |
G |
T |
5: 134,588,106 (GRCm39) |
S281* |
probably null |
Het |
| Tgm1 |
A |
G |
14: 55,947,000 (GRCm39) |
V336A |
probably damaging |
Het |
| Tle6 |
G |
T |
10: 81,429,868 (GRCm39) |
T400K |
probably damaging |
Het |
| Tmem181a |
T |
C |
17: 6,348,481 (GRCm39) |
W328R |
probably damaging |
Het |
| Trim7 |
T |
C |
11: 48,729,721 (GRCm39) |
F193L |
probably benign |
Het |
| Txndc16 |
A |
T |
14: 45,410,046 (GRCm39) |
M178K |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Vmn1r74 |
A |
G |
7: 11,581,243 (GRCm39) |
Y181C |
probably damaging |
Het |
| Vmn2r56 |
T |
A |
7: 12,446,890 (GRCm39) |
K421* |
probably null |
Het |
| Washc5 |
G |
A |
15: 59,221,991 (GRCm39) |
T135M |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,451,322 (GRCm39) |
I854V |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,493,148 (GRCm39) |
C632R |
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 |
|
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'- ATGACGTCATTCTAAACCCCTC -3'
(R):5'- TGGGAACAAGACACTGTCAC -3'
Sequencing Primer
(F):5'- AAGCACAGTCCCTGGTCCATG -3'
(R):5'- CAAGACACTGTCACATGAAGTAATTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation