Incidental Mutation 'R1874:Gapvd1'
| ID |
211007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gapvd1
|
| Ensembl Gene |
ENSMUSG00000026867 |
| Gene Name |
GTPase activating protein and VPS9 domains 1 |
| Synonyms |
2010005B09Rik, 4432404J10Rik |
| MMRRC Submission |
039896-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1874 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34566190-34645297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34596033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 788
(H788Q)
|
| 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: H788Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028224
Gene: ENSMUSG00000026867
AA Change: H788Q
| 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: H788Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099864
Gene: ENSMUSG00000026867
AA Change: H788Q
| 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: H809Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108723
Gene: ENSMUSG00000026867
AA Change: H809Q
| 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 |
unknown
Transcript: ENSMUST00000113103
AA Change: H645Q
|
| SMART Domains |
Protein: ENSMUSP00000108727
Gene: ENSMUSG00000026867
AA Change: H645Q
| 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 |
unknown
Transcript: ENSMUST00000113111
AA Change: H246Q
|
| SMART Domains |
Protein: ENSMUSP00000108735
Gene: ENSMUSG00000026867
AA Change: H246Q
| 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 |
unknown
Transcript: ENSMUST00000137528
AA Change: H671Q
|
| SMART Domains |
Protein: ENSMUSP00000120138
Gene: ENSMUSG00000026867
AA Change: H671Q
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201772
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150859
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.8%
- 20x: 94.1%
|
| Validation Efficiency |
96% (105/109) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,670,428 (GRCm39) |
S217G |
probably benign |
Het |
| Adrb3 |
C |
A |
8: 27,717,591 (GRCm39) |
R286L |
probably damaging |
Het |
| Akap11 |
T |
A |
14: 78,749,306 (GRCm39) |
D1027V |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,733,913 (GRCm39) |
I726F |
probably damaging |
Het |
| Ankmy2 |
T |
A |
12: 36,215,930 (GRCm39) |
D43E |
possibly damaging |
Het |
| Ankrd34b |
A |
G |
13: 92,576,064 (GRCm39) |
D432G |
probably damaging |
Het |
| Ano3 |
A |
C |
2: 110,715,217 (GRCm39) |
S74A |
probably benign |
Het |
| B4galnt4 |
T |
A |
7: 140,650,439 (GRCm39) |
S769T |
probably damaging |
Het |
| Bicral |
T |
A |
17: 47,136,104 (GRCm39) |
T369S |
probably benign |
Het |
| Blm |
A |
G |
7: 80,147,166 (GRCm39) |
L738P |
probably damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,767,760 (GRCm39) |
T278A |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,069,122 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
G |
C |
18: 34,743,527 (GRCm39) |
P266R |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,957,983 (GRCm39) |
M587L |
probably benign |
Het |
| Casz1 |
C |
G |
4: 149,027,668 (GRCm39) |
T1015S |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,272,597 (GRCm39) |
I524T |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,713,037 (GRCm39) |
V1825A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,416,013 (GRCm39) |
L104P |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,528,315 (GRCm39) |
|
probably null |
Het |
| Coprs |
A |
G |
8: 13,935,112 (GRCm39) |
W148R |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,302 (GRCm39) |
S168P |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,661,563 (GRCm39) |
Y408C |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 63,339,886 (GRCm39) |
E24G |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,327,813 (GRCm39) |
S2671C |
probably damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,702,298 (GRCm39) |
F265Y |
probably damaging |
Het |
| Dgkq |
C |
A |
5: 108,808,461 (GRCm39) |
R34L |
probably benign |
Het |
| Dnajc7 |
C |
T |
11: 100,490,139 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
G |
11: 29,781,136 (GRCm39) |
D632A |
probably damaging |
Het |
| Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,214,179 (GRCm39) |
C212* |
probably null |
Het |
| Ffar2 |
A |
G |
7: 30,518,839 (GRCm39) |
|
probably null |
Het |
| Fga |
A |
T |
3: 82,940,028 (GRCm39) |
T561S |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,269,386 (GRCm39) |
Y159C |
probably damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,231 (GRCm39) |
Y146C |
probably damaging |
Het |
| Gimap7 |
G |
A |
6: 48,700,449 (GRCm39) |
V12I |
possibly damaging |
Het |
| Gli2 |
C |
A |
1: 118,929,779 (GRCm39) |
A43S |
possibly damaging |
Het |
| Gm15446 |
T |
C |
5: 110,090,419 (GRCm39) |
F224L |
probably damaging |
Het |
| Gm21738 |
C |
T |
14: 19,418,824 (GRCm38) |
V35I |
possibly damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,155 (GRCm39) |
|
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,598,086 (GRCm39) |
Y53H |
probably damaging |
Het |
| Hcar1 |
C |
T |
5: 124,017,328 (GRCm39) |
R121K |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,596,446 (GRCm39) |
S1797A |
probably damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,783,562 (GRCm39) |
L282Q |
possibly damaging |
Het |
| Irs1 |
TTCTCTGAGTGGCCACAGCGTCT |
TTCT |
1: 82,267,574 (GRCm39) |
|
probably null |
Het |
| Kif1b |
C |
T |
4: 149,272,089 (GRCm39) |
V1571I |
probably benign |
Het |
| Lpl |
T |
A |
8: 69,349,271 (GRCm39) |
C266S |
probably damaging |
Het |
| Mag |
G |
A |
7: 30,608,476 (GRCm39) |
H213Y |
probably benign |
Het |
| Mansc4 |
T |
G |
6: 146,976,688 (GRCm39) |
R309S |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,284,287 (GRCm39) |
|
probably null |
Het |
| Mndal |
G |
A |
1: 173,687,933 (GRCm39) |
|
probably benign |
Het |
| Mrgpra2b |
T |
A |
7: 47,113,742 (GRCm39) |
E330V |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,984,005 (GRCm39) |
I990V |
probably benign |
Het |
| Myoz2 |
A |
T |
3: 122,819,765 (GRCm39) |
S65T |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,593,183 (GRCm39) |
E463G |
possibly damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,351,581 (GRCm39) |
F684S |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,371,591 (GRCm39) |
E286G |
possibly damaging |
Het |
| Nynrin |
A |
T |
14: 56,100,950 (GRCm39) |
I247L |
probably benign |
Het |
| Oprm1 |
A |
G |
10: 6,739,035 (GRCm39) |
H54R |
probably benign |
Het |
| Or10g6 |
T |
A |
9: 39,934,151 (GRCm39) |
I154N |
possibly damaging |
Het |
| Or2n1d |
C |
T |
17: 38,646,860 (GRCm39) |
P271S |
probably damaging |
Het |
| Or51a43 |
T |
C |
7: 103,717,336 (GRCm39) |
I301V |
probably null |
Het |
| P4hb |
C |
T |
11: 120,452,992 (GRCm39) |
D483N |
probably benign |
Het |
| Pak1 |
T |
C |
7: 97,520,787 (GRCm39) |
S149P |
probably benign |
Het |
| Pars2 |
T |
C |
4: 106,510,913 (GRCm39) |
F232L |
possibly damaging |
Het |
| Pih1d2 |
A |
G |
9: 50,532,245 (GRCm39) |
M88V |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,246,392 (GRCm39) |
N382K |
probably benign |
Het |
| Pnliprp2 |
G |
T |
19: 58,751,821 (GRCm39) |
V189L |
probably benign |
Het |
| Pole |
G |
A |
5: 110,471,530 (GRCm39) |
V1425M |
possibly damaging |
Het |
| Pot1b |
T |
A |
17: 55,961,805 (GRCm39) |
Q591L |
probably benign |
Het |
| Ppp1r9a |
C |
T |
6: 4,906,348 (GRCm39) |
T301M |
possibly damaging |
Het |
| Psg21 |
T |
C |
7: 18,384,741 (GRCm39) |
E335G |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,497,066 (GRCm39) |
M1416L |
probably benign |
Het |
| Pxn |
T |
C |
5: 115,683,049 (GRCm39) |
V117A |
probably damaging |
Het |
| Qsox1 |
C |
T |
1: 155,688,385 (GRCm39) |
R54H |
possibly damaging |
Het |
| Rad1 |
A |
G |
15: 10,488,092 (GRCm39) |
E42G |
probably damaging |
Het |
| Rpp14 |
A |
G |
14: 8,090,145 (GRCm38) |
Y23C |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,725,782 (GRCm39) |
V1156I |
probably benign |
Het |
| Serpina3j |
G |
T |
12: 104,285,958 (GRCm39) |
R371L |
probably benign |
Het |
| Serpinb9d |
T |
A |
13: 33,381,946 (GRCm39) |
|
probably null |
Het |
| Sirt5 |
C |
T |
13: 43,524,267 (GRCm39) |
S13F |
possibly damaging |
Het |
| Slc6a7 |
T |
A |
18: 61,134,470 (GRCm39) |
|
probably benign |
Het |
| Slx4 |
A |
G |
16: 3,804,712 (GRCm39) |
S701P |
probably benign |
Het |
| Snx29 |
A |
G |
16: 11,185,545 (GRCm39) |
T43A |
probably benign |
Het |
| Speg |
T |
C |
1: 75,400,550 (GRCm39) |
V2570A |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,591,565 (GRCm39) |
|
probably benign |
Het |
| Stk32a |
A |
G |
18: 43,394,381 (GRCm39) |
Y110C |
probably damaging |
Het |
| Tbc1d31 |
G |
A |
15: 57,779,506 (GRCm39) |
G73E |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,555,434 (GRCm39) |
I150N |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 64,969,001 (GRCm39) |
D699E |
probably damaging |
Het |
| Tmem143 |
A |
G |
7: 45,565,988 (GRCm39) |
D437G |
possibly damaging |
Het |
| Tmem45a2 |
A |
G |
16: 56,867,447 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Tmem45b |
T |
A |
9: 31,340,383 (GRCm39) |
T7S |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,407,922 (GRCm39) |
V1397D |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,432,428 (GRCm39) |
L832P |
probably damaging |
Het |
| Ugp2 |
G |
T |
11: 21,279,048 (GRCm39) |
F379L |
probably damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,365,437 (GRCm39) |
D350V |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,284 (GRCm39) |
T188S |
possibly damaging |
Het |
| Vwa7 |
C |
G |
17: 35,236,088 (GRCm39) |
P14R |
probably benign |
Het |
| Vwc2 |
C |
A |
11: 11,211,495 (GRCm39) |
T317K |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,605,335 (GRCm39) |
Q906L |
probably benign |
Het |
| Wdr49 |
A |
G |
3: 75,336,654 (GRCm39) |
V351A |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,861,575 (GRCm39) |
S196G |
probably benign |
Het |
| Xkr6 |
C |
A |
14: 64,035,745 (GRCm39) |
A26E |
unknown |
Het |
| Zfp955b |
T |
C |
17: 33,524,427 (GRCm39) |
I47V |
probably benign |
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 |
|
|
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 |
|
R7316:Gapvd1
|
UTSW |
2 |
34,594,681 (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'- TGACAAGTTATGCCCCACTTTG -3'
(R):5'- GTAACTACTTTGGTCTTCTTGCAGC -3'
Sequencing Primer
(F):5'- ATGCCCCACTTTGATTTTTAGGG -3'
(R):5'- TCGAAGACCTGAGATCTG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation