Incidental Mutation 'R1677:Gapvd1'
| ID |
188147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gapvd1
|
| Ensembl Gene |
ENSMUSG00000026867 |
| Gene Name |
GTPase activating protein and VPS9 domains 1 |
| Synonyms |
2010005B09Rik, 4432404J10Rik |
| MMRRC Submission |
039713-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1677 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34566190-34645297 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 34590773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028224]
[ENSMUST00000028224]
[ENSMUST00000102800]
[ENSMUST00000102800]
[ENSMUST00000113099]
[ENSMUST00000113099]
|
| 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: ENSMUST00000113101
|
| SMART Domains |
Protein: ENSMUSP00000108725
Gene: ENSMUSG00000026867
| 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 |
probably null
Transcript: ENSMUST00000113101
|
| SMART Domains |
Protein: ENSMUSP00000108725
Gene: ENSMUSG00000026867
| 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 |
probably null
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 null
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 null
Transcript: ENSMUST00000113111
|
| SMART Domains |
Protein: ENSMUSP00000108735
Gene: ENSMUSG00000026867
| 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 null
Transcript: ENSMUST00000113111
|
| SMART Domains |
Protein: ENSMUSP00000108735
Gene: ENSMUSG00000026867
| 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 |
probably null
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: 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 |
noncoding transcript
Transcript: ENSMUST00000201772
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150859
|
| Meta Mutation Damage Score |
0.9501 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
100% (95/95) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,357 (GRCm39) |
M92K |
probably benign |
Het |
| 4931406C07Rik |
T |
C |
9: 15,212,660 (GRCm39) |
|
probably null |
Het |
| A430005L14Rik |
G |
A |
4: 154,045,357 (GRCm39) |
V129M |
probably damaging |
Het |
| Actg2 |
T |
C |
6: 83,499,801 (GRCm39) |
T150A |
possibly damaging |
Het |
| Actn1 |
A |
T |
12: 80,306,806 (GRCm39) |
D20E |
probably benign |
Het |
| Alcam |
C |
T |
16: 52,091,136 (GRCm39) |
E461K |
probably damaging |
Het |
| Anapc1 |
G |
A |
2: 128,518,128 (GRCm39) |
P242L |
probably benign |
Het |
| Ankrd49 |
A |
T |
9: 14,692,674 (GRCm39) |
D163E |
probably benign |
Het |
| Atp8b5 |
G |
A |
4: 43,372,903 (GRCm39) |
R1149Q |
possibly damaging |
Het |
| Cacnb3 |
G |
T |
15: 98,540,455 (GRCm39) |
V328F |
probably damaging |
Het |
| Camk4 |
T |
C |
18: 33,309,275 (GRCm39) |
I226T |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,892,176 (GRCm39) |
D172G |
probably damaging |
Het |
| Cdh12 |
A |
G |
15: 21,520,491 (GRCm39) |
I319V |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,209,857 (GRCm39) |
|
probably benign |
Het |
| Cfap69 |
A |
C |
5: 5,632,457 (GRCm39) |
N15K |
probably damaging |
Het |
| Ckap2l |
A |
C |
2: 129,127,087 (GRCm39) |
S364A |
possibly damaging |
Het |
| Clic6 |
G |
A |
16: 92,324,972 (GRCm39) |
G36R |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,749,583 (GRCm39) |
Y417C |
probably benign |
Het |
| Cstf3 |
T |
A |
2: 104,494,623 (GRCm39) |
|
probably benign |
Het |
| Cyp4f39 |
G |
A |
17: 32,711,304 (GRCm39) |
A484T |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,527,963 (GRCm39) |
N3829D |
probably damaging |
Het |
| Dntt |
C |
A |
19: 41,017,923 (GRCm39) |
P16T |
probably benign |
Het |
| Dym |
T |
A |
18: 75,258,583 (GRCm39) |
I447N |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,773,841 (GRCm39) |
V617A |
probably benign |
Het |
| Elovl7 |
G |
A |
13: 108,419,160 (GRCm39) |
G264D |
probably damaging |
Het |
| Epha7 |
T |
A |
4: 28,947,571 (GRCm39) |
Y610* |
probably null |
Het |
| Fn1 |
T |
C |
1: 71,636,814 (GRCm39) |
I178V |
probably benign |
Het |
| Fndc9 |
T |
C |
11: 46,129,152 (GRCm39) |
Y224H |
probably benign |
Het |
| Gad1 |
T |
C |
2: 70,404,521 (GRCm39) |
V137A |
probably damaging |
Het |
| Gbp11 |
C |
T |
5: 105,475,277 (GRCm39) |
C357Y |
probably damaging |
Het |
| Gcc1 |
G |
A |
6: 28,419,163 (GRCm39) |
A390V |
probably benign |
Het |
| Gm6811 |
A |
G |
17: 21,314,185 (GRCm39) |
|
noncoding transcript |
Het |
| Htt |
A |
T |
5: 34,985,918 (GRCm39) |
D1063V |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,898,839 (GRCm39) |
A576T |
probably damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,280,485 (GRCm39) |
Y240C |
probably damaging |
Het |
| Itga3 |
T |
C |
11: 94,946,585 (GRCm39) |
D747G |
probably damaging |
Het |
| Kcnip2 |
A |
C |
19: 45,782,979 (GRCm39) |
D134E |
probably damaging |
Het |
| Kif2b |
C |
A |
11: 91,466,798 (GRCm39) |
R495I |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,993,938 (GRCm39) |
|
probably benign |
Het |
| Lias |
C |
T |
5: 65,548,981 (GRCm39) |
R4C |
probably damaging |
Het |
| Lpcat2 |
T |
C |
8: 93,591,560 (GRCm39) |
V68A |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,505,768 (GRCm39) |
S2067T |
probably benign |
Het |
| Lrrc8e |
A |
T |
8: 4,284,190 (GRCm39) |
K138N |
probably damaging |
Het |
| Map4k5 |
G |
A |
12: 69,852,082 (GRCm39) |
H767Y |
probably benign |
Het |
| Mga |
C |
A |
2: 119,791,333 (GRCm39) |
T2406K |
possibly damaging |
Het |
| Mtx1 |
A |
T |
3: 89,116,648 (GRCm39) |
S418T |
probably benign |
Het |
| Myh7 |
C |
T |
14: 55,224,973 (GRCm39) |
M531I |
probably benign |
Het |
| Myorg |
C |
T |
4: 41,497,947 (GRCm39) |
R561H |
probably benign |
Het |
| Ncaph2 |
T |
A |
15: 89,255,427 (GRCm39) |
M555K |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,244,584 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
A |
G |
1: 62,822,479 (GRCm39) |
S691G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,222,554 (GRCm39) |
T572A |
probably benign |
Het |
| Odf2l |
A |
T |
3: 144,845,543 (GRCm39) |
|
probably null |
Het |
| Or5aq6 |
T |
A |
2: 86,923,081 (GRCm39) |
H220L |
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,705,410 (GRCm39) |
V630A |
probably damaging |
Het |
| Pebp4 |
T |
C |
14: 70,285,923 (GRCm39) |
|
probably null |
Het |
| Ppfia3 |
T |
A |
7: 45,006,090 (GRCm39) |
M301L |
probably benign |
Het |
| Ppp1r21 |
C |
A |
17: 88,858,097 (GRCm39) |
Q203K |
probably benign |
Het |
| Prr23a1 |
T |
C |
9: 98,725,406 (GRCm39) |
V256A |
probably benign |
Het |
| Rbfox1 |
A |
G |
16: 7,110,091 (GRCm39) |
R150G |
possibly damaging |
Het |
| Rnps1-ps |
A |
T |
6: 7,982,943 (GRCm39) |
|
noncoding transcript |
Het |
| Robo3 |
T |
C |
9: 37,329,005 (GRCm39) |
R1238G |
possibly damaging |
Het |
| Rp9 |
T |
G |
9: 22,365,097 (GRCm39) |
Q35P |
probably damaging |
Het |
| Rsrc1 |
C |
A |
3: 67,262,808 (GRCm39) |
A254E |
probably damaging |
Het |
| Shtn1 |
T |
A |
19: 58,998,222 (GRCm39) |
K390N |
probably damaging |
Het |
| Sidt2 |
C |
T |
9: 45,864,517 (GRCm39) |
V71I |
probably benign |
Het |
| Sirt7 |
A |
G |
11: 120,515,365 (GRCm39) |
V97A |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,206,419 (GRCm39) |
S466P |
probably benign |
Het |
| Slc2a10 |
T |
A |
2: 165,357,361 (GRCm39) |
D340E |
probably benign |
Het |
| Slc36a2 |
A |
C |
11: 55,075,735 (GRCm39) |
N17K |
probably benign |
Het |
| Slc4a10 |
A |
C |
2: 62,155,071 (GRCm39) |
N1086T |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,676,423 (GRCm39) |
D177G |
probably damaging |
Het |
| Srpk2 |
A |
T |
5: 23,730,748 (GRCm39) |
|
probably null |
Het |
| Sucla2 |
T |
G |
14: 73,830,121 (GRCm39) |
V386G |
probably damaging |
Het |
| Susd1 |
G |
T |
4: 59,424,089 (GRCm39) |
N45K |
possibly damaging |
Het |
| Tbxas1 |
T |
C |
6: 38,994,822 (GRCm39) |
|
probably benign |
Het |
| Topors |
C |
T |
4: 40,261,776 (GRCm39) |
E503K |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,634,731 (GRCm39) |
R533G |
probably benign |
Het |
| Tshr |
A |
G |
12: 91,504,115 (GRCm39) |
H351R |
possibly damaging |
Het |
| Ube2f |
G |
A |
1: 91,203,037 (GRCm39) |
V94M |
probably damaging |
Het |
| Ugdh |
A |
G |
5: 65,580,521 (GRCm39) |
S216P |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,802,531 (GRCm39) |
|
probably null |
Het |
| Vmn1r226 |
A |
G |
17: 20,908,335 (GRCm39) |
E189G |
probably damaging |
Het |
| Xrcc6 |
T |
G |
15: 81,913,900 (GRCm39) |
D75E |
probably benign |
Het |
| Ypel1 |
A |
G |
16: 16,921,474 (GRCm39) |
L70P |
probably damaging |
Het |
| Zcwpw1 |
A |
T |
5: 137,795,022 (GRCm39) |
R73W |
probably damaging |
Het |
| Zfp219 |
T |
C |
14: 52,246,512 (GRCm39) |
E160G |
probably damaging |
Het |
| Zfp804b |
G |
T |
5: 7,229,533 (GRCm39) |
|
probably benign |
Het |
| Zscan22 |
C |
A |
7: 12,640,730 (GRCm39) |
P325T |
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 |
|
|
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'- ACCGGCATGATCTCCATCTAGGAC -3'
(R):5'- AATAGCAGTAGCTTCTTGGGCTGTG -3'
Sequencing Primer
(F):5'- TGATCTCCATCTAGGACACCAC -3'
(R):5'- CCCAGAAGATCAGTGTTGTTTTATC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation