Incidental Mutation 'R8062:Gapvd1'
| ID |
619750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gapvd1
|
| Ensembl Gene |
ENSMUSG00000026867 |
| Gene Name |
GTPase activating protein and VPS9 domains 1 |
| Synonyms |
2010005B09Rik, 4432404J10Rik |
| MMRRC Submission |
067498-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8062 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34566190-34645297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34568126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1413
(S1413P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028224]
[ENSMUST00000102800]
[ENSMUST00000113099]
|
| AlphaFold |
Q6PAR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028224
AA Change: S1413P
PolyPhen 2
Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028224
Gene: ENSMUSG00000026867
AA Change: S1413P
| 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 benign
Transcript: ENSMUST00000102800
AA Change: S1413P
PolyPhen 2
Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099864
Gene: ENSMUSG00000026867
AA Change: S1413P
| 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 benign
Transcript: ENSMUST00000113099
AA Change: S1434P
PolyPhen 2
Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108723
Gene: ENSMUSG00000026867
AA Change: S1434P
| 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: S523P
| 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: ENSMUSP00000108735
Gene: ENSMUSG00000026867
AA Change: S871P
| 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: ENSMUST00000138203
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
A |
T |
8: 80,427,773 (GRCm39) |
Y172N |
possibly damaging |
Het |
| Abhd2 |
T |
A |
7: 78,975,338 (GRCm39) |
M176K |
possibly damaging |
Het |
| Adamts14 |
A |
G |
10: 61,036,140 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
C |
19: 6,302,609 (GRCm39) |
|
probably null |
Het |
| Bach2 |
G |
A |
4: 32,562,937 (GRCm39) |
G468E |
probably damaging |
Het |
| Bap1 |
T |
A |
14: 30,979,465 (GRCm39) |
N489K |
probably benign |
Het |
| Btaf1 |
G |
A |
19: 36,969,865 (GRCm39) |
V1180I |
probably benign |
Het |
| Calm5 |
A |
G |
13: 3,904,405 (GRCm39) |
H33R |
probably benign |
Het |
| Cby2 |
A |
T |
14: 75,830,046 (GRCm39) |
I49N |
probably benign |
Het |
| Cnr1 |
T |
A |
4: 33,944,707 (GRCm39) |
V365E |
possibly damaging |
Het |
| Crym |
A |
C |
7: 119,800,391 (GRCm39) |
V77G |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,103,587 (GRCm39) |
E316V |
probably null |
Het |
| Dab2 |
G |
A |
15: 6,456,822 (GRCm39) |
G233D |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,747,611 (GRCm39) |
S108T |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Duxf1 |
G |
A |
10: 58,059,632 (GRCm39) |
A374V |
unknown |
Het |
| Duxf3 |
A |
C |
10: 58,066,750 (GRCm39) |
M93R |
probably benign |
Het |
| Duxf3 |
G |
A |
10: 58,066,889 (GRCm39) |
L537F |
probably damaging |
Het |
| Eif2s2 |
A |
G |
2: 154,719,724 (GRCm39) |
F182L |
possibly damaging |
Het |
| Erlin1 |
T |
A |
19: 44,044,598 (GRCm39) |
K156I |
probably benign |
Het |
| Gm1110 |
G |
A |
9: 26,793,117 (GRCm39) |
A553V |
probably damaging |
Het |
| Gm3250 |
C |
A |
10: 77,618,234 (GRCm39) |
C48F |
unknown |
Het |
| Gm3604 |
T |
C |
13: 62,518,155 (GRCm39) |
S68G |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,450,739 (GRCm39) |
M464K |
probably benign |
Het |
| Gpr142 |
G |
A |
11: 114,697,357 (GRCm39) |
R301Q |
probably benign |
Het |
| Gria4 |
C |
T |
9: 4,480,273 (GRCm39) |
D392N |
possibly damaging |
Het |
| Grik2 |
T |
A |
10: 49,116,863 (GRCm39) |
T633S |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,399,461 (GRCm39) |
I54N |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,366,064 (GRCm39) |
Y40H |
probably benign |
Het |
| Hyal5 |
C |
A |
6: 24,876,196 (GRCm39) |
T23K |
possibly damaging |
Het |
| Iqank1 |
G |
A |
15: 75,918,603 (GRCm39) |
R508H |
probably benign |
Het |
| Itga6 |
T |
A |
2: 71,672,087 (GRCm39) |
F834L |
probably benign |
Het |
| Klf1 |
T |
A |
8: 85,629,928 (GRCm39) |
L251Q |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,498,760 (GRCm39) |
D558G |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,962,429 (GRCm39) |
|
probably null |
Het |
| Lcmt2 |
A |
G |
2: 120,970,753 (GRCm39) |
V110A |
possibly damaging |
Het |
| Lgr4 |
C |
T |
2: 109,831,282 (GRCm39) |
R304C |
probably damaging |
Het |
| Lnpk |
T |
A |
2: 74,381,407 (GRCm39) |
I119L |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,210,264 (GRCm39) |
V626A |
probably benign |
Het |
| Mroh9 |
A |
T |
1: 162,866,544 (GRCm39) |
L700M |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,577,123 (GRCm39) |
W138R |
|
Het |
| Myh2 |
G |
T |
11: 67,084,209 (GRCm39) |
E1611* |
probably null |
Het |
| Myo9b |
T |
G |
8: 71,774,457 (GRCm39) |
S323A |
probably damaging |
Het |
| Or2n1c |
A |
T |
17: 38,520,065 (GRCm39) |
I310F |
probably benign |
Het |
| Or4c52 |
T |
A |
2: 89,846,080 (GRCm39) |
F269I |
possibly damaging |
Het |
| Or5t7 |
A |
C |
2: 86,507,410 (GRCm39) |
V89G |
probably benign |
Het |
| Or8b101 |
G |
T |
9: 38,020,213 (GRCm39) |
C72F |
probably damaging |
Het |
| P2ry13 |
A |
T |
3: 59,117,703 (GRCm39) |
M25K |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,463,960 (GRCm39) |
F571Y |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,119,152 (GRCm39) |
D1831G |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
T |
G |
5: 3,655,656 (GRCm39) |
M161R |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,163,537 (GRCm39) |
D2127V |
possibly damaging |
Het |
| Plod3 |
A |
T |
5: 137,019,123 (GRCm39) |
H336L |
possibly damaging |
Het |
| Pp2d1 |
A |
T |
17: 53,822,798 (GRCm39) |
N89K |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,230 (GRCm39) |
S736P |
probably damaging |
Het |
| Prp2 |
C |
A |
6: 132,577,651 (GRCm39) |
Q313K |
unknown |
Het |
| Psma5 |
T |
G |
3: 108,173,795 (GRCm39) |
D90E |
probably benign |
Het |
| Reln |
G |
A |
5: 22,176,990 (GRCm39) |
T1892I |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rsf1 |
T |
G |
7: 97,326,594 (GRCm39) |
D1039E |
|
Het |
| Rtel1 |
A |
G |
2: 180,982,360 (GRCm39) |
D370G |
probably benign |
Het |
| Scyl2 |
T |
A |
10: 89,490,022 (GRCm39) |
N447Y |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,828,321 (GRCm39) |
Y1222* |
probably null |
Het |
| Slc37a3 |
A |
T |
6: 39,341,530 (GRCm39) |
H35Q |
probably damaging |
Het |
| Sltm |
A |
T |
9: 70,480,779 (GRCm39) |
K210N |
unknown |
Het |
| Spata3 |
T |
C |
1: 85,952,148 (GRCm39) |
I134T |
unknown |
Het |
| Speer4d |
A |
T |
5: 15,825,437 (GRCm39) |
N54I |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,135,394 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
T |
15: 11,388,400 (GRCm39) |
F465Y |
possibly damaging |
Het |
| Tlr4 |
T |
G |
4: 66,758,087 (GRCm39) |
N293K |
probably benign |
Het |
| Tmprss13 |
C |
A |
9: 45,239,986 (GRCm39) |
T98K |
unknown |
Het |
| Tnfsf8 |
G |
A |
4: 63,779,432 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,015,393 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,851,689 (GRCm39) |
K136E |
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,783,764 (GRCm39) |
Y1741C |
possibly damaging |
Het |
| Usp38 |
T |
C |
8: 81,711,218 (GRCm39) |
D939G |
probably damaging |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,440 (GRCm39) |
N26K |
probably damaging |
Het |
| Vmn2r50 |
C |
A |
7: 9,774,240 (GRCm39) |
|
probably null |
Het |
| Wdr3 |
T |
A |
3: 100,049,810 (GRCm39) |
M773L |
probably benign |
Het |
| Zfp993 |
T |
G |
4: 146,739,415 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AAGAGCCATGTGGAAACGTCTG -3'
(R):5'- TCGGGATTGTTGTCCAGAGC -3'
Sequencing Primer
(F):5'- CGTCTGGAAGCTGTAGAGC -3'
(R):5'- CCCTGGCCTGGCAGCTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation