Incidental Mutation 'R7009:Gapvd1'
| ID |
544874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gapvd1
|
| Ensembl Gene |
ENSMUSG00000026867 |
| Gene Name |
GTPase activating protein and VPS9 domains 1 |
| Synonyms |
2010005B09Rik, 4432404J10Rik |
| MMRRC Submission |
045111-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7009 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34566190-34645297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34590829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 948
(S948P)
|
| 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: S948P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028224
Gene: ENSMUSG00000026867
AA Change: S948P
| 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: S948P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099864
Gene: ENSMUSG00000026867
AA Change: S948P
| 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: S969P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108723
Gene: ENSMUSG00000026867
AA Change: S969P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000108725
Gene: ENSMUSG00000026867
AA Change: S85P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000108727
Gene: ENSMUSG00000026867
AA Change: S805P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000108735
Gene: ENSMUSG00000026867
AA Change: S406P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000120138
Gene: ENSMUSG00000026867
AA Change: S805P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (82/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
G |
T |
13: 59,838,624 (GRCm39) |
D69E |
possibly damaging |
Het |
| Abat |
A |
C |
16: 8,420,231 (GRCm39) |
M177L |
probably benign |
Het |
| Acadvl |
A |
G |
11: 69,905,617 (GRCm39) |
|
probably null |
Het |
| Adam5 |
T |
C |
8: 25,296,454 (GRCm39) |
N331S |
probably benign |
Het |
| Ager |
A |
G |
17: 34,819,710 (GRCm39) |
E372G |
probably damaging |
Het |
| Angpt1 |
T |
A |
15: 42,386,991 (GRCm39) |
Q121L |
possibly damaging |
Het |
| Apoa4 |
A |
T |
9: 46,154,178 (GRCm39) |
I260F |
possibly damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,157,272 (GRCm39) |
I90F |
probably damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,566,422 (GRCm39) |
Q1131L |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 28,691,322 (GRCm39) |
M1K |
probably null |
Het |
| Ccdc18 |
G |
A |
5: 108,321,728 (GRCm39) |
|
probably null |
Het |
| Ccdc42 |
T |
C |
11: 68,485,442 (GRCm39) |
F267S |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,173,085 (GRCm39) |
Y1700F |
probably damaging |
Het |
| Cenpe |
A |
T |
3: 134,940,962 (GRCm39) |
S704C |
probably damaging |
Het |
| Cenpe |
G |
A |
3: 134,940,963 (GRCm39) |
S704N |
probably benign |
Het |
| Cfap299 |
A |
T |
5: 98,932,379 (GRCm39) |
D193V |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,710,881 (GRCm39) |
S2727T |
unknown |
Het |
| Clu |
T |
A |
14: 66,209,281 (GRCm39) |
V113D |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,161,954 (GRCm39) |
I98V |
probably benign |
Het |
| Copa |
G |
T |
1: 171,918,567 (GRCm39) |
R97L |
probably damaging |
Het |
| Epb41l1 |
C |
A |
2: 156,376,603 (GRCm39) |
|
probably null |
Het |
| Etnk1 |
T |
A |
6: 143,148,880 (GRCm39) |
|
probably null |
Het |
| Fnip1 |
A |
T |
11: 54,393,761 (GRCm39) |
K732N |
probably damaging |
Het |
| G6pd2 |
A |
G |
5: 61,966,234 (GRCm39) |
E3G |
probably benign |
Het |
| Gal3st2 |
A |
G |
1: 93,801,481 (GRCm39) |
T95A |
probably benign |
Het |
| Ggps1 |
A |
T |
13: 14,228,750 (GRCm39) |
Y8* |
probably null |
Het |
| Gria2 |
T |
C |
3: 80,614,279 (GRCm39) |
E587G |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,840,145 (GRCm39) |
E324G |
probably benign |
Het |
| Il16 |
G |
A |
7: 83,295,596 (GRCm39) |
T493I |
probably benign |
Het |
| Ints1 |
T |
C |
5: 139,754,217 (GRCm39) |
T652A |
possibly damaging |
Het |
| Ism1 |
A |
G |
2: 139,599,199 (GRCm39) |
I391V |
probably damaging |
Het |
| Katnb1 |
A |
G |
8: 95,825,012 (GRCm39) |
D598G |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,647,441 (GRCm39) |
S880G |
probably benign |
Het |
| Klra8 |
T |
C |
6: 130,102,147 (GRCm39) |
N96S |
probably benign |
Het |
| Krt79 |
T |
A |
15: 101,839,876 (GRCm39) |
D373V |
probably damaging |
Het |
| Lamtor4 |
G |
A |
5: 138,257,374 (GRCm39) |
R92Q |
probably benign |
Het |
| Lce1d |
C |
A |
3: 92,593,353 (GRCm39) |
C20F |
unknown |
Het |
| Limk1 |
T |
C |
5: 134,701,553 (GRCm39) |
T117A |
probably benign |
Het |
| Medag |
A |
T |
5: 149,350,708 (GRCm39) |
K61M |
probably benign |
Het |
| Mkrn3 |
T |
C |
7: 62,069,366 (GRCm39) |
M142V |
probably benign |
Het |
| Mob3c |
G |
A |
4: 115,688,779 (GRCm39) |
R104H |
probably benign |
Het |
| Morc1 |
G |
T |
16: 48,447,433 (GRCm39) |
R903L |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,189,749 (GRCm39) |
E1099G |
probably damaging |
Het |
| Nphp3 |
T |
G |
9: 103,893,315 (GRCm39) |
C434G |
probably null |
Het |
| Npr3 |
C |
T |
15: 11,905,334 (GRCm39) |
C131Y |
probably damaging |
Het |
| Oacyl |
C |
A |
18: 65,855,609 (GRCm39) |
Y112* |
probably null |
Het |
| Oprl1 |
A |
G |
2: 181,360,174 (GRCm39) |
T77A |
probably damaging |
Het |
| Osgep |
A |
G |
14: 51,162,165 (GRCm39) |
V24A |
probably damaging |
Het |
| Otx2 |
T |
A |
14: 48,896,254 (GRCm39) |
K260M |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,101,581 (GRCm39) |
L922P |
probably benign |
Het |
| Pgap4 |
A |
T |
4: 49,586,325 (GRCm39) |
M281K |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,605,705 (GRCm39) |
V375A |
probably damaging |
Het |
| Pip5k1b |
C |
T |
19: 24,337,299 (GRCm39) |
|
probably null |
Het |
| Psmd3 |
G |
A |
11: 98,573,592 (GRCm39) |
D13N |
probably benign |
Het |
| Ptprc |
G |
A |
1: 137,992,291 (GRCm39) |
H1140Y |
probably damaging |
Het |
| Ranbp3l |
A |
T |
15: 9,063,064 (GRCm39) |
H291L |
probably damaging |
Het |
| Rasa4 |
T |
A |
5: 136,130,217 (GRCm39) |
D324E |
probably damaging |
Het |
| Rilpl1 |
T |
A |
5: 124,641,755 (GRCm39) |
|
silent |
Het |
| Rin2 |
A |
C |
2: 145,725,395 (GRCm39) |
D794A |
probably damaging |
Het |
| Ripk1 |
A |
G |
13: 34,214,045 (GRCm39) |
I522M |
probably damaging |
Het |
| Rnf31 |
T |
C |
14: 55,830,008 (GRCm39) |
Y143H |
probably benign |
Het |
| Rp1 |
T |
G |
1: 4,112,291 (GRCm39) |
I1187L |
unknown |
Het |
| Rps6ka5 |
G |
A |
12: 100,585,796 (GRCm39) |
H166Y |
probably damaging |
Het |
| Rrm1 |
T |
C |
7: 102,109,541 (GRCm39) |
V455A |
probably damaging |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Scn5a |
T |
G |
9: 119,314,996 (GRCm39) |
E1904A |
probably damaging |
Het |
| Sec16a |
G |
T |
2: 26,326,014 (GRCm39) |
S240* |
probably null |
Het |
| Slc22a8 |
C |
T |
19: 8,582,781 (GRCm39) |
T154I |
probably benign |
Het |
| Slc25a16 |
T |
A |
10: 62,773,233 (GRCm39) |
V156E |
possibly damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,758,618 (GRCm39) |
S2T |
probably benign |
Het |
| Srd5a3 |
G |
A |
5: 76,297,713 (GRCm39) |
V48I |
probably benign |
Het |
| Srebf1 |
A |
C |
11: 60,091,352 (GRCm39) |
H1025Q |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,527,672 (GRCm39) |
K1310E |
probably benign |
Het |
| Swt1 |
A |
G |
1: 151,246,381 (GRCm39) |
V848A |
possibly damaging |
Het |
| Tanc2 |
A |
T |
11: 105,731,525 (GRCm39) |
T434S |
possibly damaging |
Het |
| Tcf20 |
G |
A |
15: 82,738,883 (GRCm39) |
T856I |
probably benign |
Het |
| Tcf7l2 |
T |
C |
19: 55,883,165 (GRCm39) |
|
probably null |
Het |
| Trim45 |
A |
G |
3: 100,839,195 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
T |
A |
6: 115,524,933 (GRCm39) |
M44K |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,787,139 (GRCm39) |
C715* |
probably null |
Het |
| Vmn2r102 |
G |
A |
17: 19,914,456 (GRCm39) |
V674I |
probably damaging |
Het |
| Zfp87 |
A |
G |
13: 67,665,173 (GRCm39) |
S430P |
probably 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 |
|
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'- GGGCCTTTTAAAGCTCTGCC -3'
(R):5'- TCAAATGACCCAGGCTGTCC -3'
Sequencing Primer
(F):5'- TGCCAGAGCATTCATCTCAATG -3'
(R):5'- CCTATTCCAGAGGGTGCCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation