Incidental Mutation 'R8794:Gapvd1'
| ID |
671081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gapvd1
|
| Ensembl Gene |
ENSMUSG00000026867 |
| Gene Name |
GTPase activating protein and VPS9 domains 1 |
| Synonyms |
2010005B09Rik, 4432404J10Rik |
| MMRRC Submission |
068723-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8794 (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 T
at 34594330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 886
(S886T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028224]
[ENSMUST00000102800]
[ENSMUST00000113099]
|
| AlphaFold |
Q6PAR5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028224
AA Change: S886T
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028224
Gene: ENSMUSG00000026867
AA Change: S886T
| 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 |
possibly damaging
Transcript: ENSMUST00000102800
AA Change: S886T
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099864
Gene: ENSMUSG00000026867
AA Change: S886T
| 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: S907T
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108723
Gene: ENSMUSG00000026867
AA Change: S907T
| 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: S23T
| 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: S743T
| 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: S344T
| 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: S743T
| 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: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (86/86) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,226,939 (GRCm39) |
V498D |
unknown |
Het |
| Actn1 |
C |
T |
12: 80,245,754 (GRCm39) |
|
probably benign |
Het |
| Actrt2 |
T |
C |
4: 154,751,176 (GRCm39) |
E320G |
probably damaging |
Het |
| Adamts7 |
C |
T |
9: 90,076,239 (GRCm39) |
Q1265* |
probably null |
Het |
| Adra1a |
A |
G |
14: 66,875,064 (GRCm39) |
N13S |
probably benign |
Het |
| Alpk3 |
G |
T |
7: 80,707,403 (GRCm39) |
R9L |
unknown |
Het |
| Ankrd42 |
A |
G |
7: 92,263,674 (GRCm39) |
F225L |
probably benign |
Het |
| C3 |
T |
C |
17: 57,528,011 (GRCm39) |
E736G |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,826 (GRCm39) |
S24P |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,894,816 (GRCm39) |
N332I |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,972,074 (GRCm39) |
P90S |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,441,904 (GRCm39) |
S2154P |
probably damaging |
Het |
| Cilp |
A |
G |
9: 65,186,535 (GRCm39) |
S877G |
probably benign |
Het |
| Clic6 |
T |
A |
16: 92,324,987 (GRCm39) |
S382T |
possibly damaging |
Het |
| Coq8a |
G |
T |
1: 180,006,773 (GRCm39) |
P85Q |
probably benign |
Het |
| Creb3l4 |
A |
G |
3: 90,145,225 (GRCm39) |
I309T |
probably benign |
Het |
| Cux2 |
T |
C |
5: 122,007,306 (GRCm39) |
E785G |
probably benign |
Het |
| Cyfip2 |
A |
G |
11: 46,144,800 (GRCm39) |
F685L |
possibly damaging |
Het |
| Epha6 |
T |
C |
16: 60,026,035 (GRCm39) |
D469G |
probably benign |
Het |
| Erc1 |
A |
T |
6: 119,607,616 (GRCm39) |
V962E |
probably damaging |
Het |
| Esrrb |
A |
T |
12: 86,517,038 (GRCm39) |
S57C |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,250,628 (GRCm39) |
T320A |
possibly damaging |
Het |
| Farsb |
C |
T |
1: 78,401,678 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,338,907 (GRCm39) |
V400A |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,851 (GRCm39) |
M1715L |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,279,632 (GRCm39) |
T786A |
probably benign |
Het |
| Gba2 |
A |
G |
4: 43,568,077 (GRCm39) |
S737P |
probably damaging |
Het |
| Gm525 |
A |
G |
11: 88,979,479 (GRCm39) |
N85S |
probably damaging |
Het |
| Gnpda1 |
T |
A |
18: 38,465,091 (GRCm39) |
D175V |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,123,015 (GRCm39) |
I655V |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,591,469 (GRCm39) |
T1910I |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Ier2 |
A |
T |
8: 85,389,096 (GRCm39) |
D95E |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,523,370 (GRCm39) |
R547G |
possibly damaging |
Het |
| Itih3 |
T |
A |
14: 30,634,854 (GRCm39) |
S639C |
possibly damaging |
Het |
| Kif19b |
A |
G |
5: 140,461,785 (GRCm39) |
E529G |
probably damaging |
Het |
| Marchf7 |
G |
A |
2: 60,074,015 (GRCm39) |
|
probably null |
Het |
| Mep1b |
A |
C |
18: 21,224,325 (GRCm39) |
T373P |
probably damaging |
Het |
| Mlh3 |
G |
A |
12: 85,282,497 (GRCm39) |
P1379S |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,605,032 (GRCm39) |
K1014* |
probably null |
Het |
| Nme1 |
A |
T |
11: 93,851,658 (GRCm39) |
F78I |
probably benign |
Het |
| Nos3 |
T |
A |
5: 24,576,745 (GRCm39) |
V458D |
probably damaging |
Het |
| Noxa1 |
A |
G |
2: 24,984,852 (GRCm39) |
F29L |
probably benign |
Het |
| Nrcam |
G |
A |
12: 44,624,958 (GRCm39) |
G1055D |
probably benign |
Het |
| Nutf2 |
A |
T |
8: 106,602,171 (GRCm39) |
|
probably benign |
Het |
| Oog3 |
A |
G |
4: 143,884,556 (GRCm39) |
I460T |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,150 (GRCm39) |
Y256* |
probably null |
Het |
| Or4c113 |
T |
C |
2: 88,885,477 (GRCm39) |
M98V |
probably benign |
Het |
| Or5p78 |
A |
T |
7: 108,211,580 (GRCm39) |
D22V |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,048,630 (GRCm39) |
M73L |
possibly damaging |
Het |
| Pde2a |
A |
T |
7: 101,155,136 (GRCm39) |
Y559F |
possibly damaging |
Het |
| Pde6d |
G |
A |
1: 86,475,209 (GRCm39) |
Q61* |
probably null |
Het |
| Pdpr |
A |
G |
8: 111,852,240 (GRCm39) |
T536A |
possibly damaging |
Het |
| Pias4 |
T |
A |
10: 80,999,846 (GRCm39) |
K69M |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,023,787 (GRCm39) |
D188E |
possibly damaging |
Het |
| Pik3r2 |
A |
G |
8: 71,224,007 (GRCm39) |
V270A |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,482,801 (GRCm39) |
W456R |
probably damaging |
Het |
| Pmpcb |
T |
C |
5: 21,961,832 (GRCm39) |
V450A |
probably benign |
Het |
| Poln |
G |
A |
5: 34,286,871 (GRCm39) |
T99I |
possibly damaging |
Het |
| Prg2 |
A |
G |
2: 84,812,404 (GRCm39) |
D38G |
possibly damaging |
Het |
| Psmd7 |
A |
C |
8: 108,310,831 (GRCm39) |
Y138D |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Ranbp2 |
T |
A |
10: 58,328,414 (GRCm39) |
V2810E |
probably damaging |
Het |
| Rgma |
A |
T |
7: 73,067,648 (GRCm39) |
H411L |
probably damaging |
Het |
| Sapcd1 |
T |
C |
17: 35,246,814 (GRCm39) |
T25A |
probably damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,024,977 (GRCm39) |
I105V |
possibly damaging |
Het |
| Serpinb9f |
A |
T |
13: 33,513,396 (GRCm39) |
T158S |
probably benign |
Het |
| Sirpb1b |
T |
A |
3: 15,613,843 (GRCm39) |
T80S |
probably benign |
Het |
| Skint6 |
A |
T |
4: 113,049,869 (GRCm39) |
S265R |
possibly damaging |
Het |
| Slc23a2 |
A |
T |
2: 131,902,629 (GRCm39) |
F524L |
probably benign |
Het |
| Slc2a13 |
C |
A |
15: 91,234,302 (GRCm39) |
G345C |
probably damaging |
Het |
| Sp110 |
A |
G |
1: 85,511,231 (GRCm39) |
|
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,439,803 (GRCm39) |
V109A |
probably benign |
Het |
| Tfcp2l1 |
A |
G |
1: 118,560,118 (GRCm39) |
N70S |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,090,553 (GRCm39) |
H218L |
probably benign |
Het |
| Tmprss11d |
G |
A |
5: 86,486,680 (GRCm39) |
T70I |
probably damaging |
Het |
| Tnpo2 |
A |
T |
8: 85,765,114 (GRCm39) |
Q32L |
probably benign |
Het |
| Trav16n |
A |
C |
14: 53,588,867 (GRCm39) |
T48P |
probably damaging |
Het |
| Ufc1 |
A |
G |
1: 171,117,095 (GRCm39) |
Y110H |
probably damaging |
Het |
| Wars2 |
A |
G |
3: 99,123,888 (GRCm39) |
K250E |
probably damaging |
Het |
| Wdfy4 |
G |
T |
14: 32,869,049 (GRCm39) |
N326K |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,341,557 (GRCm39) |
E1266V |
probably damaging |
Het |
| Zfp423 |
A |
C |
8: 88,507,857 (GRCm39) |
L829R |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,603,029 (GRCm39) |
K658E |
possibly damaging |
Het |
| Zscan12 |
T |
A |
13: 21,547,847 (GRCm39) |
C10S |
possibly damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,687 (GRCm39) |
M389K |
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 |
|
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 |
|
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'- AAATTCTACATGGCTGTGTCCC -3'
(R):5'- TTCTGTGTTACAGGGGCCTC -3'
Sequencing Primer
(F):5'- ACATGGCTGTGTCCCATACC -3'
(R):5'- GTAAGGCCAAAGGTTCACTATGCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation