Incidental Mutation 'R1172:Agbl4'
ID |
99540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl4
|
Ensembl Gene |
ENSMUSG00000061298 |
Gene Name |
ATP/GTP binding protein-like 4 |
Synonyms |
4931433A01Rik, Ccp6, 4930578N11Rik |
MMRRC Submission |
039245-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1172 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 111513515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080744]
[ENSMUST00000097920]
[ENSMUST00000106592]
|
AlphaFold |
Q09LZ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080744
|
SMART Domains |
Protein: ENSMUSP00000079568 Gene: ENSMUSG00000061298
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097920
|
SMART Domains |
Protein: ENSMUSP00000095533 Gene: ENSMUSG00000061298
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
465 |
3.6e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106592
|
SMART Domains |
Protein: ENSMUSP00000102202 Gene: ENSMUSG00000061298
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154123
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
98% (62/63) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal platelet morphology and physiology, impaired megakaryopoiesis, increased spleen weight and increased susceptibility to HSV or VACV infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accsl |
A |
T |
2: 93,696,589 (GRCm39) |
|
probably benign |
Het |
Adam7 |
T |
G |
14: 68,752,370 (GRCm39) |
K371N |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,705,182 (GRCm39) |
S1543T |
probably damaging |
Het |
Arid1b |
T |
A |
17: 5,389,575 (GRCm39) |
I1707N |
probably damaging |
Het |
Atp10a |
T |
C |
7: 58,453,514 (GRCm39) |
V864A |
probably benign |
Het |
Bivm |
A |
G |
1: 44,165,942 (GRCm39) |
T131A |
probably benign |
Het |
Bst1 |
A |
G |
5: 43,982,750 (GRCm39) |
|
probably null |
Het |
C9orf72 |
C |
A |
4: 35,218,630 (GRCm39) |
E76D |
probably damaging |
Het |
Cblb |
T |
C |
16: 52,006,603 (GRCm39) |
|
probably benign |
Het |
Ccdc28b |
T |
C |
4: 129,514,682 (GRCm39) |
|
probably benign |
Het |
Cmas |
G |
T |
6: 142,702,604 (GRCm39) |
G36C |
probably benign |
Het |
Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
Epc1 |
A |
C |
18: 6,490,525 (GRCm39) |
Y31D |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,236,607 (GRCm39) |
C358S |
probably benign |
Het |
Fbxl13 |
A |
T |
5: 21,825,602 (GRCm39) |
|
probably benign |
Het |
Fermt2 |
T |
C |
14: 45,697,425 (GRCm39) |
D642G |
possibly damaging |
Het |
Fmnl2 |
A |
T |
2: 52,962,286 (GRCm39) |
N257I |
probably damaging |
Het |
Fry |
G |
A |
5: 150,404,959 (GRCm39) |
W793* |
probably null |
Het |
Fsd2 |
T |
C |
7: 81,209,518 (GRCm39) |
D108G |
probably benign |
Het |
Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
Gm21718 |
T |
C |
14: 51,553,348 (GRCm39) |
|
noncoding transcript |
Het |
Gpld1 |
A |
G |
13: 25,141,549 (GRCm39) |
|
probably null |
Het |
Gtf3c2 |
A |
T |
5: 31,325,419 (GRCm39) |
Y500N |
probably damaging |
Het |
Hbs1l |
A |
G |
10: 21,180,537 (GRCm39) |
D73G |
probably damaging |
Het |
Idh1 |
G |
T |
1: 65,200,319 (GRCm39) |
N348K |
probably benign |
Het |
Kank4 |
T |
C |
4: 98,653,806 (GRCm39) |
Y874C |
probably damaging |
Het |
Lamc2 |
A |
T |
1: 153,042,033 (GRCm39) |
S34T |
probably damaging |
Het |
Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
Lrrc19 |
A |
T |
4: 94,526,626 (GRCm39) |
Y310* |
probably null |
Het |
Map3k5 |
G |
A |
10: 19,932,394 (GRCm39) |
|
probably benign |
Het |
Map7 |
G |
A |
10: 20,121,045 (GRCm39) |
E92K |
probably damaging |
Het |
Mettl24 |
G |
A |
10: 40,613,704 (GRCm39) |
A148T |
probably benign |
Het |
Mosmo |
A |
G |
7: 120,329,745 (GRCm39) |
Y122C |
probably benign |
Het |
Ncr1 |
T |
A |
7: 4,341,120 (GRCm39) |
I37N |
probably benign |
Het |
Nkx3-1 |
T |
C |
14: 69,429,434 (GRCm39) |
S151P |
probably damaging |
Het |
Npm2 |
T |
A |
14: 70,889,661 (GRCm39) |
K54* |
probably null |
Het |
Npr1 |
T |
A |
3: 90,368,689 (GRCm39) |
D457V |
probably benign |
Het |
Nudt21 |
T |
C |
8: 94,757,757 (GRCm39) |
|
probably benign |
Het |
Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
Pik3r4 |
G |
T |
9: 105,540,373 (GRCm39) |
G754C |
probably damaging |
Het |
Rftn2 |
A |
G |
1: 55,250,376 (GRCm39) |
V123A |
probably damaging |
Het |
Rpa1 |
A |
T |
11: 75,203,219 (GRCm39) |
V392D |
probably damaging |
Het |
Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
Slc45a4 |
C |
T |
15: 73,477,278 (GRCm39) |
|
probably benign |
Het |
Syndig1l |
T |
A |
12: 84,725,942 (GRCm39) |
|
probably null |
Het |
Tctn1 |
G |
A |
5: 122,389,752 (GRCm39) |
R257* |
probably null |
Het |
Tenm4 |
A |
T |
7: 96,497,251 (GRCm39) |
E1179V |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,718,504 (GRCm39) |
N445S |
probably benign |
Het |
Tyrp1 |
C |
T |
4: 80,763,105 (GRCm39) |
Q331* |
probably null |
Het |
Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
Vdr |
A |
T |
15: 97,767,214 (GRCm39) |
Y185N |
probably benign |
Het |
Vmn2r66 |
G |
T |
7: 84,654,799 (GRCm39) |
D503E |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,401,152 (GRCm39) |
E89V |
probably damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,313,453 (GRCm39) |
T438A |
probably benign |
Het |
Xrcc6 |
A |
G |
15: 81,915,364 (GRCm39) |
D94G |
probably damaging |
Het |
Ywhaq |
T |
C |
12: 21,445,024 (GRCm39) |
N207S |
probably benign |
Het |
Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
possibly damaging |
Het |
Zfp981 |
G |
A |
4: 146,622,221 (GRCm39) |
S382N |
probably benign |
Het |
|
Other mutations in Agbl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00548:Agbl4
|
APN |
4 |
110,976,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02961:Agbl4
|
APN |
4 |
110,437,318 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03383:Agbl4
|
APN |
4 |
111,514,620 (GRCm39) |
intron |
probably benign |
|
IGL03401:Agbl4
|
APN |
4 |
110,976,216 (GRCm39) |
missense |
probably damaging |
0.99 |
I1329:Agbl4
|
UTSW |
4 |
110,335,652 (GRCm39) |
splice site |
probably benign |
|
R0277:Agbl4
|
UTSW |
4 |
111,474,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R0323:Agbl4
|
UTSW |
4 |
111,474,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R0690:Agbl4
|
UTSW |
4 |
111,514,585 (GRCm39) |
missense |
probably benign |
0.35 |
R1086:Agbl4
|
UTSW |
4 |
110,335,791 (GRCm39) |
splice site |
probably benign |
|
R1099:Agbl4
|
UTSW |
4 |
110,812,860 (GRCm39) |
critical splice donor site |
probably null |
|
R1480:Agbl4
|
UTSW |
4 |
111,423,914 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1508:Agbl4
|
UTSW |
4 |
111,513,595 (GRCm39) |
missense |
probably benign |
0.10 |
R1564:Agbl4
|
UTSW |
4 |
110,812,761 (GRCm39) |
splice site |
probably null |
|
R1610:Agbl4
|
UTSW |
4 |
111,514,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1869:Agbl4
|
UTSW |
4 |
111,423,826 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1989:Agbl4
|
UTSW |
4 |
111,423,879 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2327:Agbl4
|
UTSW |
4 |
111,383,798 (GRCm39) |
missense |
probably benign |
0.00 |
R4780:Agbl4
|
UTSW |
4 |
111,514,528 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4806:Agbl4
|
UTSW |
4 |
110,812,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R4814:Agbl4
|
UTSW |
4 |
111,513,565 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5077:Agbl4
|
UTSW |
4 |
111,423,939 (GRCm39) |
missense |
probably benign |
0.00 |
R5079:Agbl4
|
UTSW |
4 |
111,423,826 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5091:Agbl4
|
UTSW |
4 |
110,976,237 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5124:Agbl4
|
UTSW |
4 |
111,513,525 (GRCm39) |
missense |
probably benign |
0.21 |
R5297:Agbl4
|
UTSW |
4 |
111,423,895 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5645:Agbl4
|
UTSW |
4 |
111,514,527 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5996:Agbl4
|
UTSW |
4 |
110,812,869 (GRCm39) |
splice site |
probably null |
|
R6363:Agbl4
|
UTSW |
4 |
111,423,982 (GRCm39) |
intron |
probably benign |
|
R6492:Agbl4
|
UTSW |
4 |
111,404,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R6617:Agbl4
|
UTSW |
4 |
110,437,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R6709:Agbl4
|
UTSW |
4 |
111,423,979 (GRCm39) |
intron |
probably benign |
|
R6873:Agbl4
|
UTSW |
4 |
111,423,856 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7015:Agbl4
|
UTSW |
4 |
110,335,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R7105:Agbl4
|
UTSW |
4 |
111,423,920 (GRCm39) |
missense |
probably benign |
0.06 |
R7143:Agbl4
|
UTSW |
4 |
111,474,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R7413:Agbl4
|
UTSW |
4 |
111,514,495 (GRCm39) |
missense |
probably benign |
0.23 |
R7489:Agbl4
|
UTSW |
4 |
111,383,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R7583:Agbl4
|
UTSW |
4 |
110,976,150 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7796:Agbl4
|
UTSW |
4 |
110,518,165 (GRCm39) |
missense |
unknown |
|
R8023:Agbl4
|
UTSW |
4 |
111,474,345 (GRCm39) |
missense |
probably benign |
0.05 |
R8058:Agbl4
|
UTSW |
4 |
110,518,039 (GRCm39) |
missense |
unknown |
|
R8342:Agbl4
|
UTSW |
4 |
110,976,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R8366:Agbl4
|
UTSW |
4 |
111,423,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R8691:Agbl4
|
UTSW |
4 |
111,520,156 (GRCm39) |
missense |
probably benign |
0.03 |
Z1176:Agbl4
|
UTSW |
4 |
111,383,840 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Agbl4
|
UTSW |
4 |
110,518,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |