Incidental Mutation 'R6709:Agbl4'
| ID |
529043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl4
|
| Ensembl Gene |
ENSMUSG00000061298 |
| Gene Name |
ATP/GTP binding protein-like 4 |
| Synonyms |
4931433A01Rik, Ccp6, 4930578N11Rik |
| MMRRC Submission |
044827-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6709 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 111423979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080744]
[ENSMUST00000097920]
[ENSMUST00000106591]
[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 |
unknown
Transcript: ENSMUST00000106591
AA Change: M335K
|
| SMART Domains |
Protein: ENSMUSP00000102201
Gene: ENSMUSG00000061298
AA Change: M335K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M14
|
174 |
321 |
3.7e-33 |
PFAM |
|
| 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 |
probably benign
Transcript: ENSMUST00000148038
|
| SMART Domains |
Protein: ENSMUSP00000118551
Gene: ENSMUSG00000061298
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
15 |
267 |
9.65e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154123
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (58/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,552,779 (GRCm39) |
D36G |
possibly damaging |
Het |
| Actn1 |
T |
A |
12: 80,240,418 (GRCm39) |
D223V |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,713,917 (GRCm39) |
N201Y |
probably benign |
Het |
| Atg4d |
T |
C |
9: 21,179,944 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,884,242 (GRCm39) |
T367A |
possibly damaging |
Het |
| Ceacam2 |
T |
C |
7: 25,229,262 (GRCm39) |
T293A |
possibly damaging |
Het |
| Col19a1 |
C |
T |
1: 24,321,577 (GRCm39) |
G977E |
probably damaging |
Het |
| Csnka2ip |
A |
T |
16: 64,298,932 (GRCm39) |
H33Q |
possibly damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,714,902 (GRCm39) |
|
probably null |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,594,706 (GRCm39) |
D3492G |
probably damaging |
Het |
| Eepd1 |
A |
T |
9: 25,394,164 (GRCm39) |
T143S |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,940,136 (GRCm39) |
*650W |
probably null |
Het |
| Etv1 |
C |
T |
12: 38,833,796 (GRCm39) |
T19I |
possibly damaging |
Het |
| Fam133b |
T |
C |
5: 3,619,059 (GRCm39) |
|
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,302,345 (GRCm39) |
H70R |
probably benign |
Het |
| Galnt11 |
C |
T |
5: 25,453,851 (GRCm39) |
R26C |
probably damaging |
Het |
| Gm136 |
T |
A |
4: 34,755,884 (GRCm39) |
Y43F |
probably damaging |
Het |
| Gm17409 |
A |
T |
2: 58,361,088 (GRCm39) |
|
probably null |
Het |
| Gm5591 |
A |
G |
7: 38,221,499 (GRCm39) |
I190T |
probably benign |
Het |
| H1f9 |
T |
A |
11: 94,858,772 (GRCm39) |
S22R |
possibly damaging |
Het |
| Htra1 |
C |
T |
7: 130,537,948 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,221,117 (GRCm39) |
Y753N |
possibly damaging |
Het |
| Itprid2 |
A |
G |
2: 79,475,276 (GRCm39) |
T412A |
probably benign |
Het |
| L3mbtl3 |
G |
A |
10: 26,158,695 (GRCm39) |
T651I |
unknown |
Het |
| Ltb4r2 |
A |
C |
14: 55,999,990 (GRCm39) |
T204P |
possibly damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,797,885 (GRCm39) |
|
probably null |
Het |
| Mlxip |
A |
T |
5: 123,585,339 (GRCm39) |
I616F |
possibly damaging |
Het |
| Mpz |
A |
T |
1: 170,978,301 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
A |
G |
16: 14,041,358 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,703,906 (GRCm39) |
L1949P |
probably damaging |
Het |
| Olfm2 |
A |
G |
9: 20,584,009 (GRCm39) |
Y116H |
probably damaging |
Het |
| Or2t47 |
T |
C |
11: 58,442,862 (GRCm39) |
M68V |
probably benign |
Het |
| Or6s1 |
A |
T |
14: 51,308,286 (GRCm39) |
L188H |
probably damaging |
Het |
| Pde4d |
T |
G |
13: 110,084,813 (GRCm39) |
L470R |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,472,074 (GRCm39) |
N1013K |
probably benign |
Het |
| Ptpn13 |
A |
C |
5: 103,734,622 (GRCm39) |
Q2118P |
probably benign |
Het |
| Pwwp2a |
C |
G |
11: 43,595,554 (GRCm39) |
L240V |
probably damaging |
Het |
| Reep2 |
T |
C |
18: 34,979,263 (GRCm39) |
L196P |
probably benign |
Het |
| Shank1 |
A |
T |
7: 44,003,600 (GRCm39) |
N1765I |
probably benign |
Het |
| Slc25a13 |
A |
G |
6: 6,073,440 (GRCm39) |
S473P |
possibly damaging |
Het |
| Slc33a1 |
C |
A |
3: 63,852,122 (GRCm39) |
M450I |
possibly damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,001,216 (GRCm39) |
Y105C |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,526,616 (GRCm39) |
L812Q |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,301,024 (GRCm39) |
|
probably null |
Het |
| Sv2b |
A |
T |
7: 74,773,887 (GRCm39) |
M528K |
probably benign |
Het |
| Syngr4 |
A |
G |
7: 45,538,122 (GRCm39) |
V82A |
probably benign |
Het |
| Tmem185b |
G |
A |
1: 119,454,604 (GRCm39) |
V122I |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,340,587 (GRCm39) |
D607G |
probably benign |
Het |
| Trim10 |
T |
A |
17: 37,183,262 (GRCm39) |
I186N |
probably damaging |
Het |
| Trp53i11 |
A |
T |
2: 93,030,163 (GRCm39) |
M157L |
probably benign |
Het |
| Ubr3 |
C |
A |
2: 69,843,436 (GRCm39) |
H1559N |
probably damaging |
Het |
| Usp25 |
A |
C |
16: 76,880,820 (GRCm39) |
E727A |
probably benign |
Het |
| Vmn2r42 |
T |
A |
7: 8,195,618 (GRCm39) |
R509S |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,061,069 (GRCm39) |
N172D |
probably benign |
Het |
| Zfp14 |
T |
C |
7: 29,737,557 (GRCm39) |
Y476C |
probably damaging |
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 |
|
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'- TATGTGGGAAGCTCAGCCTG -3'
(R):5'- CATGTATTTCCACGGCTTCATG -3'
Sequencing Primer
(F):5'- GAAGCTCAGCCTGTCCCATCTG -3'
(R):5'- TGATACTATCATGCCCAAGCC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation