Incidental Mutation 'R1669:Gapvd1'
| ID |
187423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gapvd1
|
| Ensembl Gene |
ENSMUSG00000026867 |
| Gene Name |
GTPase activating protein and VPS9 domains 1 |
| Synonyms |
2010005B09Rik, 4432404J10Rik |
| MMRRC Submission |
039705-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1669 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34566190-34645297 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to G
at 34620694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028224]
[ENSMUST00000028224]
[ENSMUST00000102800]
[ENSMUST00000102800]
[ENSMUST00000113099]
[ENSMUST00000113099]
[ENSMUST00000113099]
[ENSMUST00000113099]
[ENSMUST00000142436]
[ENSMUST00000142436]
[ENSMUST00000142436]
[ENSMUST00000142436]
|
| AlphaFold |
Q6PAR5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028224
|
| SMART Domains |
Protein: ENSMUSP00000028224
Gene: ENSMUSG00000026867
| 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 null
Transcript: ENSMUST00000028224
|
| SMART Domains |
Protein: ENSMUSP00000028224
Gene: ENSMUSG00000026867
| 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 null
Transcript: ENSMUST00000102800
|
| SMART Domains |
Protein: ENSMUSP00000099864
Gene: ENSMUSG00000026867
| 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 null
Transcript: ENSMUST00000102800
|
| SMART Domains |
Protein: ENSMUSP00000099864
Gene: ENSMUSG00000026867
| 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 null
Transcript: ENSMUST00000113099
|
| SMART Domains |
Protein: ENSMUSP00000108723
Gene: ENSMUSG00000026867
| 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 null
Transcript: ENSMUST00000113099
|
| SMART Domains |
Protein: ENSMUSP00000108723
Gene: ENSMUSG00000026867
| 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 null
Transcript: ENSMUST00000113099
|
| SMART Domains |
Protein: ENSMUSP00000108723
Gene: ENSMUSG00000026867
| 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 null
Transcript: ENSMUST00000113099
|
| SMART Domains |
Protein: ENSMUSP00000108723
Gene: ENSMUSG00000026867
| 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: ENSMUST00000113103
|
| SMART Domains |
Protein: ENSMUSP00000108727
Gene: ENSMUSG00000026867
| 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 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142436
|
| SMART Domains |
Protein: ENSMUSP00000126225
Gene: ENSMUSG00000026867
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1wer__
|
95 |
135 |
6e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142436
|
| SMART Domains |
Protein: ENSMUSP00000126225
Gene: ENSMUSG00000026867
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1wer__
|
95 |
135 |
6e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142436
|
| SMART Domains |
Protein: ENSMUSP00000126225
Gene: ENSMUSG00000026867
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1wer__
|
95 |
135 |
6e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142436
|
| SMART Domains |
Protein: ENSMUSP00000126225
Gene: ENSMUSG00000026867
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1wer__
|
95 |
135 |
6e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169207
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
99% (85/86) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano10 |
A |
C |
9: 122,086,249 (GRCm39) |
L258R |
possibly damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,546,670 (GRCm39) |
|
probably benign |
Het |
| Aplp2 |
G |
T |
9: 31,079,029 (GRCm39) |
|
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,672,257 (GRCm39) |
D237G |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,771,239 (GRCm39) |
H1182L |
possibly damaging |
Het |
| Ash1l |
G |
A |
3: 88,974,549 (GRCm39) |
|
probably null |
Het |
| Bicdl1 |
C |
A |
5: 115,794,075 (GRCm39) |
V224L |
possibly damaging |
Het |
| Cacna1h |
C |
A |
17: 25,602,445 (GRCm39) |
V1422L |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,678,153 (GRCm39) |
E365G |
probably benign |
Het |
| Cd180 |
C |
T |
13: 102,841,998 (GRCm39) |
T348I |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,137,439 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
C |
A |
17: 56,370,339 (GRCm39) |
D601E |
probably benign |
Het |
| Coprs |
C |
T |
8: 13,935,704 (GRCm39) |
W12* |
probably null |
Het |
| Cpsf3 |
T |
A |
12: 21,355,332 (GRCm39) |
M424K |
probably damaging |
Het |
| Cxcl13 |
T |
A |
5: 96,106,600 (GRCm39) |
N57K |
probably damaging |
Het |
| Dact1 |
C |
T |
12: 71,365,547 (GRCm39) |
T776M |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,228,561 (GRCm39) |
K438E |
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,566,548 (GRCm39) |
S992T |
probably damaging |
Het |
| Dusp11 |
A |
T |
6: 85,927,008 (GRCm39) |
H202Q |
probably benign |
Het |
| Ezr |
T |
C |
17: 7,006,712 (GRCm39) |
E584G |
probably damaging |
Het |
| F830104G03Rik |
A |
G |
3: 56,797,998 (GRCm39) |
V6A |
unknown |
Het |
| Fam227a |
G |
A |
15: 79,504,878 (GRCm39) |
|
probably null |
Het |
| Gm10267 |
T |
C |
18: 44,290,367 (GRCm39) |
R47G |
probably damaging |
Het |
| Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,890,110 (GRCm39) |
L133* |
probably null |
Het |
| Hpcal4 |
T |
C |
4: 123,082,869 (GRCm39) |
F72L |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,882,156 (GRCm39) |
R825H |
probably benign |
Het |
| Kcnh8 |
T |
A |
17: 53,200,996 (GRCm39) |
Y477N |
probably damaging |
Het |
| Kctd1 |
T |
C |
18: 15,195,517 (GRCm39) |
N369D |
possibly damaging |
Het |
| Kdm1b |
C |
T |
13: 47,222,024 (GRCm39) |
R488C |
probably damaging |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Klra8 |
A |
T |
6: 130,092,592 (GRCm39) |
C236* |
probably null |
Het |
| Lca5l |
T |
C |
16: 95,961,008 (GRCm39) |
R485G |
possibly damaging |
Het |
| Lrrc2 |
A |
G |
9: 110,810,718 (GRCm39) |
T363A |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Lyst |
G |
A |
13: 13,818,672 (GRCm39) |
G1314D |
possibly damaging |
Het |
| Mmp10 |
A |
T |
9: 7,505,526 (GRCm39) |
|
probably null |
Het |
| Mmp13 |
A |
G |
9: 7,277,926 (GRCm39) |
D273G |
probably benign |
Het |
| Morc2a |
G |
A |
11: 3,625,885 (GRCm39) |
V162M |
probably benign |
Het |
| Msh4 |
C |
T |
3: 153,582,357 (GRCm39) |
R417Q |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,465,270 (GRCm39) |
V790E |
probably damaging |
Het |
| Nlgn1 |
C |
A |
3: 25,490,298 (GRCm39) |
L476F |
probably damaging |
Het |
| Nox4 |
C |
A |
7: 86,945,097 (GRCm39) |
Q118K |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,749,495 (GRCm39) |
T131A |
possibly damaging |
Het |
| Oog3 |
C |
A |
4: 143,885,008 (GRCm39) |
R309S |
probably benign |
Het |
| Oosp3 |
C |
T |
19: 11,678,378 (GRCm39) |
|
probably benign |
Het |
| Or10a3 |
T |
A |
7: 108,479,920 (GRCm39) |
T298S |
probably benign |
Het |
| Or2a7 |
T |
A |
6: 43,151,755 (GRCm39) |
S278R |
probably damaging |
Het |
| Or2w6 |
A |
T |
13: 21,843,456 (GRCm39) |
S12R |
possibly damaging |
Het |
| Or4c126 |
T |
A |
2: 89,824,144 (GRCm39) |
|
probably null |
Het |
| Or51a42 |
A |
T |
7: 103,708,516 (GRCm39) |
S98T |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,878,652 (GRCm39) |
I164K |
possibly damaging |
Het |
| P2ry6 |
A |
G |
7: 100,587,630 (GRCm39) |
V243A |
probably damaging |
Het |
| Pgc |
C |
A |
17: 48,044,715 (GRCm39) |
P321T |
probably damaging |
Het |
| Pramel22 |
T |
G |
4: 143,380,916 (GRCm39) |
E369A |
possibly damaging |
Het |
| Prkd1 |
G |
A |
12: 50,441,709 (GRCm39) |
H277Y |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,551,922 (GRCm39) |
S2043T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,072 (GRCm39) |
N96D |
possibly damaging |
Het |
| Rnf4 |
T |
C |
5: 34,508,624 (GRCm39) |
F162S |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 52,037,907 (GRCm39) |
N421K |
probably damaging |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,753 (GRCm39) |
D395G |
probably benign |
Het |
| Scn8a |
T |
G |
15: 100,909,001 (GRCm39) |
V823G |
probably damaging |
Het |
| Sema3d |
T |
A |
5: 12,558,051 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,037,307 (GRCm39) |
I501T |
probably damaging |
Het |
| Slc12a7 |
C |
T |
13: 73,943,232 (GRCm39) |
T382I |
probably benign |
Het |
| Slc16a12 |
T |
A |
19: 34,657,781 (GRCm39) |
I41L |
probably benign |
Het |
| Slc1a1 |
C |
A |
19: 28,889,194 (GRCm39) |
T489K |
probably benign |
Het |
| Slc24a3 |
C |
T |
2: 145,455,512 (GRCm39) |
P467L |
probably damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,933,415 (GRCm39) |
I457F |
probably benign |
Het |
| Snai2 |
A |
T |
16: 14,524,908 (GRCm39) |
Y138F |
possibly damaging |
Het |
| Sorcs1 |
A |
C |
19: 50,463,860 (GRCm39) |
Y197D |
probably damaging |
Het |
| Sppl2a |
T |
A |
2: 126,759,714 (GRCm39) |
|
probably benign |
Het |
| Srgap3 |
G |
A |
6: 112,699,865 (GRCm39) |
P1038S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,554,807 (GRCm39) |
E30699G |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,283,206 (GRCm39) |
M300K |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,624,869 (GRCm39) |
S1873P |
possibly damaging |
Het |
| Wrap73 |
A |
G |
4: 154,240,588 (GRCm39) |
D360G |
probably damaging |
Het |
| Zfp366 |
T |
C |
13: 99,366,069 (GRCm39) |
M410T |
probably damaging |
Het |
| Zfp608 |
C |
T |
18: 55,120,811 (GRCm39) |
V259I |
probably benign |
Het |
| Zfp69 |
C |
T |
4: 120,804,695 (GRCm39) |
|
probably benign |
Het |
| Zfp995 |
T |
C |
17: 22,098,945 (GRCm39) |
T430A |
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 |
|
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 |
|
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'- CTTTGCAATCCACGCTGTTCGATAC -3'
(R):5'- CGGCTGAGTTCCAGCAAAACTCAAG -3'
Sequencing Primer
(F):5'- GCTGTTCGATACAGCTTTTCAG -3'
(R):5'- gcttgaccactgaaatctatctcc -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation