Incidental Mutation 'R7316:Gapvd1'
| ID |
567936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gapvd1
|
| Ensembl Gene |
ENSMUSG00000026867 |
| Gene Name |
GTPase activating protein and VPS9 domains 1 |
| Synonyms |
2010005B09Rik, 4432404J10Rik |
| MMRRC Submission |
045413-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7316 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34566190-34645297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34594681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 804
(L804F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028224]
[ENSMUST00000102800]
[ENSMUST00000113099]
|
| AlphaFold |
Q6PAR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028224
AA Change: L804F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028224
Gene: ENSMUSG00000026867
AA Change: L804F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RasGAP
|
152 |
353 |
2.3e-36 |
PFAM |
|
internal_repeat_1
|
626 |
655 |
3.27e-5 |
PROSPERO |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
686 |
717 |
3.27e-5 |
PROSPERO |
|
low complexity region
|
875 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
923 |
933 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
952 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
982 |
N/A |
INTRINSIC |
|
VPS9
|
1332 |
1437 |
1.08e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102800
AA Change: L804F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099864
Gene: ENSMUSG00000026867
AA Change: L804F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RasGAP
|
152 |
353 |
2.3e-36 |
PFAM |
|
internal_repeat_1
|
626 |
655 |
3.27e-5 |
PROSPERO |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
686 |
717 |
3.27e-5 |
PROSPERO |
|
low complexity region
|
875 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
923 |
933 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
952 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
982 |
N/A |
INTRINSIC |
|
VPS9
|
1332 |
1437 |
1.08e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113099
AA Change: L825F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108723
Gene: ENSMUSG00000026867
AA Change: L825F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RasGAP
|
152 |
353 |
2.8e-37 |
PFAM |
|
internal_repeat_1
|
647 |
676 |
3.6e-5 |
PROSPERO |
|
low complexity region
|
685 |
699 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
707 |
738 |
3.6e-5 |
PROSPERO |
|
low complexity region
|
896 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
930 |
941 |
N/A |
INTRINSIC |
|
low complexity region
|
944 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
957 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1003 |
N/A |
INTRINSIC |
|
VPS9
|
1353 |
1458 |
1.08e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113101
|
| SMART Domains |
Protein: ENSMUSP00000108725
Gene: ENSMUSG00000026867
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
|
VPS9
|
443 |
548 |
1.08e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113103
AA Change: L661F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108727
Gene: ENSMUSG00000026867
AA Change: L661F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RasGAP
|
1 |
184 |
4.9e-32 |
PFAM |
|
internal_repeat_1
|
484 |
513 |
1.18e-5 |
PROSPERO |
|
low complexity region
|
522 |
536 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
544 |
575 |
1.18e-5 |
PROSPERO |
|
low complexity region
|
733 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
794 |
810 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113111
AA Change: L262F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108735
Gene: ENSMUSG00000026867
AA Change: L262F
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
85 |
114 |
3.65e-6 |
PROSPERO |
|
low complexity region
|
123 |
137 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
145 |
176 |
3.65e-6 |
PROSPERO |
|
low complexity region
|
334 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
441 |
N/A |
INTRINSIC |
|
VPS9
|
791 |
896 |
1.08e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128855
|
| SMART Domains |
Protein: ENSMUSP00000129138
Gene: ENSMUSG00000026867
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137528
|
| SMART Domains |
Protein: ENSMUSP00000120138
Gene: ENSMUSG00000026867
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RasGAP
|
15 |
216 |
1.2e-37 |
PFAM |
|
internal_repeat_1
|
510 |
539 |
1.19e-5 |
PROSPERO |
|
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
570 |
601 |
1.19e-5 |
PROSPERO |
|
low complexity region
|
733 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
794 |
810 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
99% (93/94) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,969,020 (GRCm39) |
M214I |
probably benign |
Het |
| Aadat |
G |
T |
8: 60,979,668 (GRCm39) |
G177C |
probably damaging |
Het |
| Adam4 |
T |
C |
12: 81,466,498 (GRCm39) |
I708V |
probably benign |
Het |
| Aip |
T |
C |
19: 4,164,793 (GRCm39) |
N264S |
probably benign |
Het |
| Alox8 |
A |
T |
11: 69,077,064 (GRCm39) |
D505E |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,553,693 (GRCm39) |
I518N |
probably damaging |
Het |
| Arf3 |
G |
A |
15: 98,638,874 (GRCm39) |
Q128* |
probably null |
Het |
| Asph |
A |
G |
4: 9,537,746 (GRCm39) |
V344A |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,911,489 (GRCm39) |
R1500S |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,963,935 (GRCm39) |
T1753I |
probably damaging |
Het |
| Bptf |
A |
T |
11: 107,001,740 (GRCm39) |
C457* |
probably null |
Het |
| Brpf3 |
T |
A |
17: 29,033,660 (GRCm39) |
I568N |
probably damaging |
Het |
| Btnl4 |
G |
C |
17: 34,688,031 (GRCm39) |
N582K |
probably benign |
Het |
| Camsap3 |
C |
A |
8: 3,654,648 (GRCm39) |
P773T |
possibly damaging |
Het |
| Capsl |
A |
T |
15: 9,461,888 (GRCm39) |
I95L |
probably benign |
Het |
| Cd96 |
T |
A |
16: 45,890,016 (GRCm39) |
M336L |
probably benign |
Het |
| Cdan1 |
A |
T |
2: 120,558,813 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
T |
11: 69,236,394 (GRCm39) |
L1939Q |
probably damaging |
Het |
| Cngb3 |
A |
T |
4: 19,425,599 (GRCm39) |
Y469F |
probably benign |
Het |
| Cp |
T |
C |
3: 20,026,916 (GRCm39) |
L448P |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,475,687 (GRCm39) |
V418A |
possibly damaging |
Het |
| Dag1 |
A |
T |
9: 108,086,701 (GRCm39) |
S147T |
probably benign |
Het |
| Dnajc25 |
T |
A |
4: 59,017,693 (GRCm39) |
Y117* |
probably null |
Het |
| Dpysl2 |
A |
T |
14: 67,100,044 (GRCm39) |
M64K |
possibly damaging |
Het |
| Dus3l |
A |
G |
17: 57,072,551 (GRCm39) |
H38R |
possibly damaging |
Het |
| Eme2 |
G |
A |
17: 25,113,840 (GRCm39) |
R62W |
probably damaging |
Het |
| Enox1 |
A |
T |
14: 77,958,298 (GRCm39) |
M616L |
probably benign |
Het |
| Epb41l4b |
T |
A |
4: 57,019,867 (GRCm39) |
T708S |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,176,893 (GRCm39) |
I1534N |
probably damaging |
Het |
| Fer1l5 |
A |
G |
1: 36,457,197 (GRCm39) |
T1649A |
probably benign |
Het |
| Fmo9 |
A |
G |
1: 166,491,215 (GRCm39) |
V421A |
probably benign |
Het |
| Fsip2 |
A |
C |
2: 82,820,035 (GRCm39) |
Y5256S |
possibly damaging |
Het |
| Garin1a |
A |
G |
6: 29,286,101 (GRCm39) |
M187V |
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,291,470 (GRCm39) |
V838A |
probably benign |
Het |
| Gnptab |
A |
T |
10: 88,236,572 (GRCm39) |
N59I |
probably damaging |
Het |
| Grm5 |
A |
G |
7: 87,624,473 (GRCm39) |
T347A |
probably benign |
Het |
| Gsdmc3 |
T |
C |
15: 63,730,251 (GRCm39) |
N438D |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,608,697 (GRCm39) |
L1495S |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,201 (GRCm39) |
L294Q |
probably damaging |
Het |
| Islr2 |
T |
C |
9: 58,105,250 (GRCm39) |
E714G |
probably damaging |
Het |
| Larp4 |
A |
T |
15: 99,898,898 (GRCm39) |
M430L |
probably benign |
Het |
| Lpcat2b |
A |
G |
5: 107,580,979 (GRCm39) |
I103V |
not run |
Het |
| Lrguk |
C |
T |
6: 34,080,191 (GRCm39) |
S1142F |
unknown |
Het |
| Lrit2 |
G |
T |
14: 36,790,815 (GRCm39) |
V165F |
probably damaging |
Het |
| Mast3 |
T |
A |
8: 71,232,432 (GRCm39) |
I1182F |
probably damaging |
Het |
| Mcm6 |
C |
T |
1: 128,287,245 (GRCm39) |
D20N |
probably damaging |
Het |
| Mief1 |
A |
G |
15: 80,133,598 (GRCm39) |
I218M |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,567,038 (GRCm39) |
T453A |
probably benign |
Het |
| Ms4a18 |
T |
A |
19: 10,979,360 (GRCm39) |
S219C |
probably damaging |
Het |
| Myo5c |
A |
T |
9: 75,176,920 (GRCm39) |
T622S |
probably benign |
Het |
| Neb |
A |
T |
2: 52,161,450 (GRCm39) |
M2114K |
possibly damaging |
Het |
| Nemp1 |
T |
A |
10: 127,525,212 (GRCm39) |
L122* |
probably null |
Het |
| Nkx2-1 |
T |
C |
12: 56,581,583 (GRCm39) |
N88S |
probably benign |
Het |
| Nr2c2 |
T |
A |
6: 92,131,444 (GRCm39) |
C202S |
probably damaging |
Het |
| Ntsr1 |
A |
C |
2: 180,142,545 (GRCm39) |
D112A |
probably damaging |
Het |
| Or14j3 |
A |
G |
17: 37,901,026 (GRCm39) |
S73P |
probably damaging |
Het |
| Or56a41 |
A |
T |
7: 104,740,107 (GRCm39) |
H246Q |
probably damaging |
Het |
| Or6n2 |
A |
T |
1: 173,897,727 (GRCm39) |
I288F |
probably benign |
Het |
| Osbp2 |
C |
A |
11: 3,676,431 (GRCm39) |
R73L |
probably damaging |
Het |
| Pbp2 |
T |
A |
6: 135,286,830 (GRCm39) |
E172D |
probably damaging |
Het |
| Pcdhgc3 |
T |
C |
18: 37,941,501 (GRCm39) |
I634T |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,042,323 (GRCm39) |
S38P |
probably benign |
Het |
| Phyh |
A |
T |
2: 4,940,855 (GRCm39) |
K252* |
probably null |
Het |
| Plcb3 |
C |
T |
19: 6,943,753 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
T |
C |
18: 61,440,909 (GRCm39) |
S670G |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 137,992,509 (GRCm39) |
Y1067C |
probably damaging |
Het |
| Pwwp2b |
A |
C |
7: 138,836,140 (GRCm39) |
E527A |
probably benign |
Het |
| Pzp |
T |
C |
6: 128,490,736 (GRCm39) |
D409G |
probably damaging |
Het |
| Rbfox2 |
A |
T |
15: 77,016,929 (GRCm39) |
N148K |
possibly damaging |
Het |
| Resf1 |
T |
C |
6: 149,228,136 (GRCm39) |
L394P |
probably damaging |
Het |
| Rps24 |
T |
C |
14: 24,540,757 (GRCm39) |
|
probably benign |
Het |
| Slc35e4 |
T |
C |
11: 3,862,584 (GRCm39) |
K202E |
probably damaging |
Het |
| Spata7 |
C |
T |
12: 98,624,871 (GRCm39) |
R258W |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,204,365 (GRCm39) |
S1421T |
unknown |
Het |
| Svep1 |
T |
A |
4: 58,068,763 (GRCm39) |
I3008F |
possibly damaging |
Het |
| Tbc1d1 |
G |
T |
5: 64,492,620 (GRCm39) |
|
probably null |
Het |
| Thsd4 |
T |
A |
9: 59,894,642 (GRCm39) |
H772L |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,036,529 (GRCm39) |
I769V |
probably benign |
Het |
| Tm4sf19 |
T |
A |
16: 32,226,466 (GRCm39) |
S127T |
possibly damaging |
Het |
| Tmprss9 |
C |
A |
10: 80,730,813 (GRCm39) |
R780S |
probably benign |
Het |
| Tpp2 |
T |
C |
1: 44,009,591 (GRCm39) |
V475A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,692,509 (GRCm39) |
V471A |
|
Het |
| Ttn |
A |
T |
2: 76,597,257 (GRCm39) |
N19885K |
probably damaging |
Het |
| Tub |
A |
T |
7: 108,629,378 (GRCm39) |
T478S |
possibly damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,276 (GRCm39) |
K185E |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,712 (GRCm39) |
Y342F |
|
Het |
| Wdr18 |
C |
A |
10: 79,801,059 (GRCm39) |
D157E |
probably benign |
Het |
| Xrra1 |
A |
T |
7: 99,525,423 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
G |
C |
7: 16,169,260 (GRCm39) |
G1198A |
unknown |
Het |
| Zfp568 |
A |
T |
7: 29,721,681 (GRCm39) |
I209F |
possibly damaging |
Het |
| Zfp787 |
C |
A |
7: 6,158,523 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,609,863 (GRCm39) |
Y621N |
possibly damaging |
Het |
| Zyg11b |
A |
G |
4: 108,107,699 (GRCm39) |
I493T |
possibly damaging |
Het |
|
| Other mutations in Gapvd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Gapvd1
|
APN |
2 |
34,589,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00985:Gapvd1
|
APN |
2 |
34,585,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01133:Gapvd1
|
APN |
2 |
34,615,410 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01347:Gapvd1
|
APN |
2 |
34,596,708 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01830:Gapvd1
|
APN |
2 |
34,578,968 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01865:Gapvd1
|
APN |
2 |
34,585,515 (GRCm39) |
missense |
probably null |
|
|
IGL02009:Gapvd1
|
APN |
2 |
34,594,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02014:Gapvd1
|
APN |
2 |
34,594,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02189:Gapvd1
|
APN |
2 |
34,618,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02418:Gapvd1
|
APN |
2 |
34,620,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02632:Gapvd1
|
APN |
2 |
34,574,186 (GRCm39) |
splice site |
probably benign |
|
|
IGL02636:Gapvd1
|
APN |
2 |
34,615,416 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02643:Gapvd1
|
APN |
2 |
34,594,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03271:Gapvd1
|
APN |
2 |
34,617,219 (GRCm39) |
unclassified |
probably benign |
|
|
P0023:Gapvd1
|
UTSW |
2 |
34,596,700 (GRCm39) |
splice site |
probably benign |
|
|
R0016:Gapvd1
|
UTSW |
2 |
34,589,925 (GRCm39) |
splice site |
probably benign |
|
|
R0016:Gapvd1
|
UTSW |
2 |
34,589,925 (GRCm39) |
splice site |
probably benign |
|
|
R0029:Gapvd1
|
UTSW |
2 |
34,568,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Gapvd1
|
UTSW |
2 |
34,568,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0282:Gapvd1
|
UTSW |
2 |
34,578,972 (GRCm39) |
nonsense |
probably null |
|
|
R0414:Gapvd1
|
UTSW |
2 |
34,583,439 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0443:Gapvd1
|
UTSW |
2 |
34,594,633 (GRCm39) |
intron |
probably benign |
|
|
R0542:Gapvd1
|
UTSW |
2 |
34,615,048 (GRCm39) |
unclassified |
probably benign |
|
|
R0570:Gapvd1
|
UTSW |
2 |
34,618,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0840:Gapvd1
|
UTSW |
2 |
34,619,125 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0866:Gapvd1
|
UTSW |
2 |
34,599,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0890:Gapvd1
|
UTSW |
2 |
34,602,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0926:Gapvd1
|
UTSW |
2 |
34,602,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0970:Gapvd1
|
UTSW |
2 |
34,620,625 (GRCm39) |
splice site |
probably null |
|
|
R1168:Gapvd1
|
UTSW |
2 |
34,594,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1391:Gapvd1
|
UTSW |
2 |
34,596,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1577:Gapvd1
|
UTSW |
2 |
34,599,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Gapvd1
|
UTSW |
2 |
34,602,207 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1669:Gapvd1
|
UTSW |
2 |
34,620,694 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1677:Gapvd1
|
UTSW |
2 |
34,590,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1812:Gapvd1
|
UTSW |
2 |
34,615,076 (GRCm39) |
nonsense |
probably null |
|
|
R1874:Gapvd1
|
UTSW |
2 |
34,596,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Gapvd1
|
UTSW |
2 |
34,615,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1974:Gapvd1
|
UTSW |
2 |
34,590,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2111:Gapvd1
|
UTSW |
2 |
34,574,329 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2921:Gapvd1
|
UTSW |
2 |
34,578,875 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2923:Gapvd1
|
UTSW |
2 |
34,578,875 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3846:Gapvd1
|
UTSW |
2 |
34,619,084 (GRCm39) |
nonsense |
probably null |
|
|
R3894:Gapvd1
|
UTSW |
2 |
34,618,488 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4405:Gapvd1
|
UTSW |
2 |
34,618,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4605:Gapvd1
|
UTSW |
2 |
34,618,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4770:Gapvd1
|
UTSW |
2 |
34,581,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4935:Gapvd1
|
UTSW |
2 |
34,594,504 (GRCm39) |
nonsense |
probably null |
|
|
R5218:Gapvd1
|
UTSW |
2 |
34,618,488 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5490:Gapvd1
|
UTSW |
2 |
34,583,445 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5571:Gapvd1
|
UTSW |
2 |
34,605,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5588:Gapvd1
|
UTSW |
2 |
34,599,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Gapvd1
|
UTSW |
2 |
34,574,303 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6117:Gapvd1
|
UTSW |
2 |
34,580,471 (GRCm39) |
splice site |
probably null |
|
|
R6661:Gapvd1
|
UTSW |
2 |
34,618,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6857:Gapvd1
|
UTSW |
2 |
34,618,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Gapvd1
|
UTSW |
2 |
34,574,257 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7009:Gapvd1
|
UTSW |
2 |
34,590,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7125:Gapvd1
|
UTSW |
2 |
34,585,612 (GRCm39) |
missense |
probably benign |
|
|
R7154:Gapvd1
|
UTSW |
2 |
34,615,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7358:Gapvd1
|
UTSW |
2 |
34,580,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7363:Gapvd1
|
UTSW |
2 |
34,602,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7371:Gapvd1
|
UTSW |
2 |
34,607,385 (GRCm39) |
missense |
probably benign |
|
|
R7418:Gapvd1
|
UTSW |
2 |
34,615,130 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7690:Gapvd1
|
UTSW |
2 |
34,619,134 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7740:Gapvd1
|
UTSW |
2 |
34,590,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7742:Gapvd1
|
UTSW |
2 |
34,568,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Gapvd1
|
UTSW |
2 |
34,619,079 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8062:Gapvd1
|
UTSW |
2 |
34,568,126 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8113:Gapvd1
|
UTSW |
2 |
34,594,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8303:Gapvd1
|
UTSW |
2 |
34,602,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Gapvd1
|
UTSW |
2 |
34,594,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Gapvd1
|
UTSW |
2 |
34,568,078 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8781:Gapvd1
|
UTSW |
2 |
34,610,698 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8794:Gapvd1
|
UTSW |
2 |
34,594,330 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8876:Gapvd1
|
UTSW |
2 |
34,568,560 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8942:Gapvd1
|
UTSW |
2 |
34,619,134 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8954:Gapvd1
|
UTSW |
2 |
34,568,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Gapvd1
|
UTSW |
2 |
34,617,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9428:Gapvd1
|
UTSW |
2 |
34,607,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9470:Gapvd1
|
UTSW |
2 |
34,602,280 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9505:Gapvd1
|
UTSW |
2 |
34,613,026 (GRCm39) |
missense |
|
|
|
R9690:Gapvd1
|
UTSW |
2 |
34,618,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gapvd1
|
UTSW |
2 |
34,589,876 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCATAGTGAACCTTTGGC -3'
(R):5'- TGCAGATTAAAATGCAGGGC -3'
Sequencing Primer
(F):5'- GGCATAGTGAACCTTTGGCCTTAC -3'
(R):5'- TGCAGGGCAATCAGAATTTGATAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation