Incidental Mutation 'R1974:Gapvd1'
ID |
221348 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gapvd1
|
Ensembl Gene |
ENSMUSG00000026867 |
Gene Name |
GTPase activating protein and VPS9 domains 1 |
Synonyms |
2010005B09Rik, 4432404J10Rik |
MMRRC Submission |
039987-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1974 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
34566190-34645297 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34590853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 940
(R940C)
|
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: R940C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000028224 Gene: ENSMUSG00000026867 AA Change: R940C
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: R940C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099864 Gene: ENSMUSG00000026867 AA Change: R940C
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: R961C
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108723 Gene: ENSMUSG00000026867 AA Change: R961C
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 |
unknown
Transcript: ENSMUST00000113101
AA Change: R77C
|
SMART Domains |
Protein: ENSMUSP00000108725 Gene: ENSMUSG00000026867 AA Change: R77C
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: R797C
|
SMART Domains |
Protein: ENSMUSP00000108727 Gene: ENSMUSG00000026867 AA Change: R797C
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: R398C
|
SMART Domains |
Protein: ENSMUSP00000108735 Gene: ENSMUSG00000026867 AA Change: R398C
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 |
unknown
Transcript: ENSMUST00000137528
AA Change: R797C
|
SMART Domains |
Protein: ENSMUSP00000120138 Gene: ENSMUSG00000026867 AA Change: R797C
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: ENSMUST00000150859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201772
|
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,773,028 (GRCm39) |
L739Q |
probably damaging |
Het |
4933436I01Rik |
A |
T |
X: 66,963,655 (GRCm39) |
Y401* |
probably null |
Het |
Abcg3 |
A |
G |
5: 105,111,504 (GRCm39) |
V321A |
probably benign |
Het |
Acad10 |
C |
A |
5: 121,764,248 (GRCm39) |
V894L |
possibly damaging |
Het |
Adam9 |
A |
G |
8: 25,482,240 (GRCm39) |
I255T |
probably damaging |
Het |
Ago3 |
T |
C |
4: 126,240,544 (GRCm39) |
Y785C |
probably damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Akap4 |
A |
G |
X: 6,943,595 (GRCm39) |
S633G |
probably benign |
Het |
Alox15 |
T |
A |
11: 70,240,799 (GRCm39) |
T194S |
probably benign |
Het |
Amh |
T |
C |
10: 80,642,250 (GRCm39) |
S207P |
probably benign |
Het |
Apc |
T |
A |
18: 34,433,057 (GRCm39) |
C415S |
possibly damaging |
Het |
Atg14 |
G |
A |
14: 47,783,298 (GRCm39) |
R346C |
probably damaging |
Het |
Atp5mf |
A |
T |
5: 145,121,389 (GRCm39) |
L64Q |
probably damaging |
Het |
Barhl2 |
C |
G |
5: 106,605,179 (GRCm39) |
E177Q |
probably benign |
Het |
C1qtnf5 |
T |
C |
9: 44,020,072 (GRCm39) |
V232A |
probably damaging |
Het |
Calr |
T |
C |
8: 85,570,786 (GRCm39) |
I290V |
probably benign |
Het |
Cdh19 |
G |
C |
1: 110,817,889 (GRCm39) |
Q618E |
possibly damaging |
Het |
Celsr2 |
G |
T |
3: 108,321,530 (GRCm39) |
D427E |
probably damaging |
Het |
Cep250 |
T |
C |
2: 155,831,424 (GRCm39) |
S1294P |
probably damaging |
Het |
Chrna7 |
T |
A |
7: 62,749,034 (GRCm39) |
T483S |
probably damaging |
Het |
Clmn |
A |
T |
12: 104,758,121 (GRCm39) |
W132R |
probably damaging |
Het |
Cpsf2 |
G |
A |
12: 101,956,306 (GRCm39) |
D370N |
probably benign |
Het |
Crnn |
T |
C |
3: 93,056,594 (GRCm39) |
V460A |
probably benign |
Het |
Daam1 |
T |
A |
12: 72,035,703 (GRCm39) |
I957N |
probably damaging |
Het |
Defb9 |
T |
C |
8: 22,371,905 (GRCm39) |
K36R |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,488,143 (GRCm39) |
I2007F |
possibly damaging |
Het |
Dpm1 |
A |
T |
2: 168,059,667 (GRCm39) |
V143D |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,592,166 (GRCm39) |
V1110A |
possibly damaging |
Het |
Erlec1 |
T |
G |
11: 30,889,604 (GRCm39) |
K373N |
possibly damaging |
Het |
Fbxo40 |
C |
T |
16: 36,790,303 (GRCm39) |
G269E |
probably benign |
Het |
Fbxw7 |
T |
A |
3: 84,862,242 (GRCm39) |
C70S |
possibly damaging |
Het |
Fhip2a |
T |
C |
19: 57,373,809 (GRCm39) |
F690L |
probably damaging |
Het |
Fnbp1 |
G |
T |
2: 30,943,059 (GRCm39) |
R280S |
probably null |
Het |
Gfod2 |
T |
C |
8: 106,444,142 (GRCm39) |
K134E |
possibly damaging |
Het |
Gpi1 |
A |
T |
7: 33,920,228 (GRCm39) |
|
probably null |
Het |
Grik2 |
A |
T |
10: 49,008,923 (GRCm39) |
N721K |
possibly damaging |
Het |
Gsn |
G |
T |
2: 35,191,483 (GRCm39) |
G455V |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
Hyal2 |
T |
C |
9: 107,449,371 (GRCm39) |
C376R |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,574,771 (GRCm39) |
T781A |
unknown |
Het |
Iscu |
A |
G |
5: 113,915,079 (GRCm39) |
|
probably benign |
Het |
Kcna4 |
G |
A |
2: 107,126,565 (GRCm39) |
G433D |
possibly damaging |
Het |
Kir3dl2 |
T |
A |
X: 135,357,024 (GRCm39) |
N146I |
probably benign |
Het |
Klrg1 |
T |
A |
6: 122,259,721 (GRCm39) |
Q17L |
possibly damaging |
Het |
Krt82 |
T |
G |
15: 101,453,597 (GRCm39) |
Q263P |
probably benign |
Het |
Mfrp |
T |
C |
9: 44,017,669 (GRCm39) |
C554R |
probably damaging |
Het |
Minar1 |
T |
G |
9: 89,483,256 (GRCm39) |
T714P |
probably damaging |
Het |
Mst1r |
T |
C |
9: 107,791,962 (GRCm39) |
Y833H |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,793,132 (GRCm39) |
|
probably null |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nipal4 |
T |
C |
11: 46,042,210 (GRCm39) |
N157S |
probably damaging |
Het |
Notch2 |
G |
A |
3: 97,980,071 (GRCm39) |
G195D |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,610,776 (GRCm39) |
H492L |
probably benign |
Het |
Or10aa1 |
A |
T |
1: 173,870,154 (GRCm39) |
I213F |
probably damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,853 (GRCm39) |
I143N |
probably damaging |
Het |
Papln |
G |
A |
12: 83,828,811 (GRCm39) |
R817H |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,614,110 (GRCm39) |
E447G |
probably benign |
Het |
Pdp2 |
T |
C |
8: 105,320,538 (GRCm39) |
V129A |
probably benign |
Het |
Plch2 |
A |
G |
4: 155,069,410 (GRCm39) |
F1072S |
possibly damaging |
Het |
Prag1 |
T |
A |
8: 36,570,081 (GRCm39) |
D221E |
probably damaging |
Het |
Prkg1 |
T |
C |
19: 31,563,095 (GRCm39) |
D102G |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,769,011 (GRCm39) |
D662E |
probably benign |
Het |
Ptprn |
T |
C |
1: 75,231,464 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
A |
G |
6: 22,986,310 (GRCm39) |
D370G |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,590,886 (GRCm39) |
S1637P |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,403,696 (GRCm39) |
H642L |
probably benign |
Het |
Slc30a5 |
A |
T |
13: 100,950,461 (GRCm39) |
F209I |
probably benign |
Het |
Slc4a3 |
G |
T |
1: 75,528,835 (GRCm39) |
E508* |
probably null |
Het |
Stpg2 |
C |
T |
3: 139,014,944 (GRCm39) |
R370* |
probably null |
Het |
Tas2r113 |
T |
A |
6: 132,870,796 (GRCm39) |
F275I |
probably benign |
Het |
Tmem132d |
T |
G |
5: 128,346,263 (GRCm39) |
K86N |
probably damaging |
Het |
Tpgs2 |
A |
T |
18: 25,273,593 (GRCm39) |
F189L |
probably damaging |
Het |
Trmt6 |
A |
G |
2: 132,652,968 (GRCm39) |
S104P |
probably damaging |
Het |
Trpv3 |
T |
C |
11: 73,174,514 (GRCm39) |
S294P |
probably damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,228,727 (GRCm39) |
|
probably null |
Het |
Vmn1r170 |
A |
T |
7: 23,305,906 (GRCm39) |
M103L |
probably benign |
Het |
Vmn2r107 |
T |
A |
17: 20,575,879 (GRCm39) |
|
probably null |
Het |
Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,449,964 (GRCm39) |
V70A |
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 |
|
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 |
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'- GGCCTTTTAAAGCTCTGCCAG -3'
(R):5'- CCTGGAAGGCAATAGCAGTAGC -3'
Sequencing Primer
(F):5'- TGCCAGAGCATTCATCTCAATG -3'
(R):5'- TCAGTGGTAGGGTGCCC -3'
|
Posted On |
2014-08-25 |