Incidental Mutation 'R8023:Agbl4'
ID |
617517 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl4
|
Ensembl Gene |
ENSMUSG00000061298 |
Gene Name |
ATP/GTP binding protein-like 4 |
Synonyms |
4931433A01Rik, Ccp6, 4930578N11Rik |
MMRRC Submission |
067462-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8023 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111474345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 378
(V378E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080744]
[ENSMUST00000097920]
[ENSMUST00000106592]
|
AlphaFold |
Q09LZ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080744
AA Change: V378E
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000079568 Gene: ENSMUSG00000061298 AA Change: V378E
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097920
AA Change: V378E
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000095533 Gene: ENSMUSG00000061298 AA Change: V378E
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
465 |
3.6e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106592
AA Change: V378E
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102202 Gene: ENSMUSG00000061298 AA Change: V378E
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000118551 Gene: ENSMUSG00000061298 AA Change: V223E
Domain | Start | End | E-Value | Type |
Zn_pept
|
15 |
267 |
9.65e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg2 |
A |
G |
17: 57,152,448 (GRCm39) |
Y665H |
probably damaging |
Het |
Acte1 |
T |
C |
7: 143,445,528 (GRCm39) |
S192P |
probably damaging |
Het |
Card9 |
T |
C |
2: 26,247,327 (GRCm39) |
D274G |
probably benign |
Het |
Ccnc |
T |
C |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
Col1a2 |
T |
G |
6: 4,533,847 (GRCm39) |
S843A |
unknown |
Het |
Cux1 |
T |
A |
5: 136,402,251 (GRCm39) |
I111F |
probably damaging |
Het |
Fam24b |
A |
C |
7: 130,927,869 (GRCm39) |
S107A |
probably benign |
Het |
Fndc7 |
C |
T |
3: 108,774,461 (GRCm39) |
C599Y |
probably damaging |
Het |
Gm3604 |
G |
A |
13: 62,517,683 (GRCm39) |
A225V |
probably damaging |
Het |
Grhl3 |
A |
G |
4: 135,277,640 (GRCm39) |
V475A |
probably benign |
Het |
H2ac20 |
A |
G |
3: 96,128,106 (GRCm39) |
S19P |
unknown |
Het |
Heg1 |
T |
A |
16: 33,550,895 (GRCm39) |
V958E |
possibly damaging |
Het |
Hibch |
T |
C |
1: 52,899,197 (GRCm39) |
M30T |
probably benign |
Het |
Hk2 |
T |
A |
6: 82,705,790 (GRCm39) |
M838L |
probably benign |
Het |
Hpd |
A |
G |
5: 123,314,297 (GRCm39) |
F206S |
probably damaging |
Het |
Il34 |
C |
T |
8: 111,469,284 (GRCm39) |
C177Y |
probably damaging |
Het |
Il6ra |
A |
G |
3: 89,820,260 (GRCm39) |
|
probably null |
Het |
Itpr2 |
A |
G |
6: 146,088,988 (GRCm39) |
I2240T |
probably damaging |
Het |
Med24 |
A |
G |
11: 98,609,321 (GRCm39) |
|
probably null |
Het |
Mpz |
A |
G |
1: 170,987,602 (GRCm39) |
D246G |
probably damaging |
Het |
Ncam1 |
C |
A |
9: 49,421,057 (GRCm39) |
A753S |
probably benign |
Het |
Ndufs2 |
A |
T |
1: 171,064,263 (GRCm39) |
M375K |
probably damaging |
Het |
Obox2 |
A |
G |
7: 15,131,145 (GRCm39) |
K84E |
possibly damaging |
Het |
Or4c31 |
A |
G |
2: 88,292,022 (GRCm39) |
I132V |
probably benign |
Het |
Or51k1 |
A |
G |
7: 103,661,006 (GRCm39) |
I301T |
probably damaging |
Het |
Or7e178 |
C |
T |
9: 20,225,545 (GRCm39) |
V224I |
probably benign |
Het |
Pds5a |
A |
T |
5: 65,795,241 (GRCm39) |
L665Q |
probably damaging |
Het |
Prr29 |
A |
G |
11: 106,267,099 (GRCm39) |
E38G |
probably benign |
Het |
Ptpn3 |
G |
C |
4: 57,248,688 (GRCm39) |
D215E |
probably benign |
Het |
Ptprq |
G |
A |
10: 107,488,477 (GRCm39) |
Q987* |
probably null |
Het |
Ranbp6 |
T |
C |
19: 29,789,222 (GRCm39) |
S377G |
possibly damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,594,506 (GRCm39) |
L168Q |
probably damaging |
Het |
Sall1 |
A |
G |
8: 89,759,171 (GRCm39) |
I311T |
probably damaging |
Het |
Satb2 |
T |
C |
1: 56,930,390 (GRCm39) |
Y211C |
probably damaging |
Het |
Sis |
T |
A |
3: 72,859,813 (GRCm39) |
Y314F |
probably damaging |
Het |
Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
Slc6a20a |
T |
C |
9: 123,489,657 (GRCm39) |
N129D |
probably damaging |
Het |
Slu7 |
G |
A |
11: 43,336,975 (GRCm39) |
R572Q |
probably benign |
Het |
Tbx6 |
C |
T |
7: 126,382,031 (GRCm39) |
A123V |
possibly damaging |
Het |
Tcn2 |
A |
T |
11: 3,877,579 (GRCm39) |
I23K |
possibly damaging |
Het |
Tiparp |
A |
G |
3: 65,439,224 (GRCm39) |
D180G |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,131,346 (GRCm39) |
L1400P |
probably damaging |
Het |
Ttf2 |
T |
C |
3: 100,863,571 (GRCm39) |
T588A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,769,564 (GRCm39) |
V2741A |
unknown |
Het |
Txlna |
A |
T |
4: 129,533,278 (GRCm39) |
S83R |
probably damaging |
Het |
Vmn2r16 |
C |
T |
5: 109,488,272 (GRCm39) |
Q382* |
probably null |
Het |
Vmn2r76 |
A |
G |
7: 85,879,028 (GRCm39) |
V424A |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,256,553 (GRCm39) |
L1508I |
probably damaging |
Het |
Zfp189 |
G |
A |
4: 49,530,312 (GRCm39) |
G472R |
probably damaging |
Het |
Zfp462 |
G |
A |
4: 55,073,106 (GRCm39) |
|
probably null |
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 |
|
R1172:Agbl4
|
UTSW |
4 |
111,513,515 (GRCm39) |
splice site |
probably benign |
|
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 |
|
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 |
PCR Primer
(F):5'- AGTCCCACTGAGATTCCTGC -3'
(R):5'- ATGAAGGCTGGTCTAGATATAGTGG -3'
Sequencing Primer
(F):5'- AGGAACCCTGATGGATGCTTTC -3'
(R):5'- GGATCTAGCAAGGATACAGGCTTC -3'
|
Posted On |
2020-01-23 |