Incidental Mutation 'R1610:Agbl4'
| ID |
176720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl4
|
| Ensembl Gene |
ENSMUSG00000061298 |
| Gene Name |
ATP/GTP binding protein-like 4 |
| Synonyms |
4931433A01Rik, Ccp6, 4930578N11Rik |
| MMRRC Submission |
039647-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1610 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111514365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 459
(E459K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095533
(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
AA Change: E459K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095533
Gene: ENSMUSG00000061298
AA Change: E459K
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
G |
A |
2: 22,980,563 (GRCm39) |
C312Y |
probably damaging |
Het |
| Adgrl1 |
T |
A |
8: 84,659,002 (GRCm39) |
M601K |
probably benign |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Casz1 |
C |
T |
4: 149,013,544 (GRCm39) |
A36V |
possibly damaging |
Het |
| Cfap20dc |
G |
T |
14: 8,511,110 (GRCm38) |
H435N |
probably benign |
Het |
| Chpf |
A |
G |
1: 75,453,292 (GRCm39) |
V327A |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,084 (GRCm39) |
Y135H |
probably damaging |
Het |
| Cobll1 |
C |
T |
2: 64,963,986 (GRCm39) |
D211N |
probably damaging |
Het |
| Cramp1 |
A |
G |
17: 25,202,925 (GRCm39) |
V368A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,121,946 (GRCm39) |
T1374A |
probably benign |
Het |
| Dpyd |
A |
G |
3: 118,858,655 (GRCm39) |
H623R |
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,830 (GRCm39) |
N476S |
probably benign |
Het |
| Endog |
A |
T |
2: 30,063,899 (GRCm39) |
I267F |
probably damaging |
Het |
| Ephb6 |
A |
T |
6: 41,591,307 (GRCm39) |
K155* |
probably null |
Het |
| Far2 |
T |
C |
6: 148,058,956 (GRCm39) |
V214A |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,169,750 (GRCm39) |
V3003A |
probably damaging |
Het |
| Frg2f1 |
T |
A |
4: 119,388,485 (GRCm39) |
T5S |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,637,972 (GRCm39) |
T349S |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,746,463 (GRCm39) |
T2951A |
probably benign |
Het |
| Hc |
G |
T |
2: 34,896,173 (GRCm39) |
D1203E |
probably benign |
Het |
| Isg20 |
C |
A |
7: 78,564,257 (GRCm39) |
Q55K |
possibly damaging |
Het |
| Jph4 |
G |
T |
14: 55,351,560 (GRCm39) |
A152E |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 65,897,109 (GRCm39) |
T264A |
probably damaging |
Het |
| Kcnq5 |
T |
G |
1: 21,527,685 (GRCm39) |
T463P |
probably damaging |
Het |
| Klra8 |
A |
G |
6: 130,095,981 (GRCm39) |
S204P |
probably damaging |
Het |
| Ldlrad1 |
A |
G |
4: 107,072,072 (GRCm39) |
D98G |
probably damaging |
Het |
| Lhfpl4 |
T |
C |
6: 113,171,097 (GRCm39) |
T30A |
possibly damaging |
Het |
| Lig1 |
T |
A |
7: 13,019,266 (GRCm39) |
L80Q |
probably damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,186,699 (GRCm39) |
Y558C |
probably benign |
Het |
| Lrrn3 |
G |
T |
12: 41,502,992 (GRCm39) |
L442I |
possibly damaging |
Het |
| Mc2r |
A |
G |
18: 68,540,519 (GRCm39) |
F258S |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,011,582 (GRCm39) |
T137A |
probably benign |
Het |
| Nfatc2ip |
A |
T |
7: 125,986,579 (GRCm39) |
S359T |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Nup50l |
G |
T |
6: 96,142,270 (GRCm39) |
P258Q |
probably damaging |
Het |
| Or10a48 |
T |
A |
7: 108,425,131 (GRCm39) |
H25L |
probably benign |
Het |
| Or4c15b |
T |
C |
2: 89,113,165 (GRCm39) |
H104R |
probably damaging |
Het |
| Or4s2b |
A |
T |
2: 88,508,918 (GRCm39) |
K233* |
probably null |
Het |
| Or8b1b |
C |
T |
9: 38,375,927 (GRCm39) |
L197F |
probably damaging |
Het |
| Pacc1 |
A |
G |
1: 191,077,262 (GRCm39) |
D195G |
probably benign |
Het |
| Plagl1 |
C |
T |
10: 13,004,706 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
A |
T |
15: 89,042,696 (GRCm39) |
S1531T |
probably damaging |
Het |
| Ptpn22 |
G |
A |
3: 103,809,512 (GRCm39) |
|
probably null |
Het |
| Rtn1 |
T |
A |
12: 72,266,053 (GRCm39) |
Q174L |
possibly damaging |
Het |
| Selenoo |
A |
G |
15: 88,984,119 (GRCm39) |
E645G |
probably benign |
Het |
| Serpina1a |
A |
C |
12: 103,820,096 (GRCm39) |
D383E |
possibly damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,816,344 (GRCm39) |
Y345F |
probably benign |
Het |
| Smbd1 |
A |
G |
16: 32,627,135 (GRCm39) |
V51A |
possibly damaging |
Het |
| Tchh |
C |
T |
3: 93,352,146 (GRCm39) |
R529W |
unknown |
Het |
| Tonsl |
A |
T |
15: 76,522,757 (GRCm39) |
Y165N |
probably damaging |
Het |
| Trdmt1 |
G |
A |
2: 13,520,870 (GRCm39) |
T344I |
probably damaging |
Het |
| Ubash3b |
C |
A |
9: 40,954,796 (GRCm39) |
R116L |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,463,995 (GRCm39) |
V765A |
probably damaging |
Het |
| Zfp474 |
C |
T |
18: 52,771,437 (GRCm39) |
T30I |
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 |
|
|
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 |
|
|
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 |
PCR Primer
(F):5'- ATGGCAGGCCACCTCATTTCAG -3'
(R):5'- GGCATCAAAGCACATCGTGAACATC -3'
Sequencing Primer
(F):5'- AGATAACTCATCCTCTAAGGGTTCC -3'
(R):5'- ATTGCCATGTCATTCCAGGAGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation