Incidental Mutation 'R7489:Agbl4'
| ID |
580393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl4
|
| Ensembl Gene |
ENSMUSG00000061298 |
| Gene Name |
ATP/GTP binding protein-like 4 |
| Synonyms |
4931433A01Rik, Ccp6, 4930578N11Rik |
| MMRRC Submission |
045563-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7489 (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 C
at 111383855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 237
(S237P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080744]
[ENSMUST00000097920]
[ENSMUST00000106591]
[ENSMUST00000106592]
|
| AlphaFold |
Q09LZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080744
AA Change: S237P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079568
Gene: ENSMUSG00000061298
AA Change: S237P
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097920
AA Change: S237P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095533
Gene: ENSMUSG00000061298
AA Change: S237P
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
169 |
465 |
3.6e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106591
AA Change: S237P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102201
Gene: ENSMUSG00000061298
AA Change: S237P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M14
|
174 |
321 |
3.7e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106592
AA Change: S237P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102202
Gene: ENSMUSG00000061298
AA Change: S237P
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148038
AA Change: S82P
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118551
Gene: ENSMUSG00000061298
AA Change: S82P
| 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: 99.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
A |
T |
16: 88,424,122 (GRCm39) |
V123D |
probably damaging |
Het |
| 4930503E14Rik |
A |
T |
14: 44,407,756 (GRCm39) |
N92K |
probably damaging |
Het |
| 4930519G04Rik |
T |
C |
5: 115,017,686 (GRCm39) |
S166P |
unknown |
Het |
| Abtb3 |
T |
A |
10: 85,463,079 (GRCm39) |
Y615N |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,586,586 (GRCm39) |
T369I |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,839,649 (GRCm39) |
C187R |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,054,933 (GRCm39) |
T1626M |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,118,833 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
G |
T |
7: 105,216,687 (GRCm39) |
T301N |
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,006,359 (GRCm39) |
V679A |
probably benign |
Het |
| Atp2a2 |
T |
C |
5: 122,605,830 (GRCm39) |
D375G |
probably benign |
Het |
| Best1 |
A |
G |
19: 9,974,410 (GRCm39) |
S45P |
possibly damaging |
Het |
| Bpifb4 |
A |
C |
2: 153,785,924 (GRCm39) |
T21P |
probably damaging |
Het |
| Cdx2 |
A |
T |
5: 147,243,482 (GRCm39) |
M104K |
probably benign |
Het |
| Ces1d |
A |
T |
8: 93,904,759 (GRCm39) |
L327Q |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,412 (GRCm39) |
H214R |
probably benign |
Het |
| Chd5 |
G |
A |
4: 152,457,925 (GRCm39) |
G1014D |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,228,346 (GRCm39) |
K2247N |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,583,348 (GRCm39) |
V110A |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,541,265 (GRCm39) |
S724P |
probably benign |
Het |
| Galnt1 |
T |
A |
18: 24,415,214 (GRCm39) |
V485D |
probably damaging |
Het |
| Garin3 |
G |
C |
11: 46,298,268 (GRCm39) |
G524A |
|
Het |
| Gli2 |
A |
G |
1: 118,765,905 (GRCm39) |
S749P |
probably benign |
Het |
| H2-M5 |
A |
C |
17: 37,300,363 (GRCm39) |
L12V |
unknown |
Het |
| Iqcf6 |
C |
A |
9: 106,504,656 (GRCm39) |
Q107K |
probably benign |
Het |
| Itfg1 |
C |
T |
8: 86,493,630 (GRCm39) |
C283Y |
probably damaging |
Het |
| Jak3 |
A |
C |
8: 72,136,936 (GRCm39) |
K704T |
probably damaging |
Het |
| Kl |
A |
T |
5: 150,876,461 (GRCm39) |
T94S |
probably damaging |
Het |
| Krt73 |
A |
C |
15: 101,702,294 (GRCm39) |
V523G |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,657,848 (GRCm39) |
F215L |
probably damaging |
Het |
| Lce1c |
G |
A |
3: 92,587,954 (GRCm39) |
C127Y |
unknown |
Het |
| Map6 |
C |
T |
7: 98,917,268 (GRCm39) |
R14C |
probably damaging |
Het |
| Mcm10 |
T |
A |
2: 5,006,112 (GRCm39) |
K410M |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,780,254 (GRCm39) |
N967K |
probably damaging |
Het |
| Mmp8 |
A |
T |
9: 7,561,388 (GRCm39) |
T131S |
probably benign |
Het |
| Ms4a14 |
T |
C |
19: 11,279,395 (GRCm39) |
I1054M |
probably benign |
Het |
| Mup14 |
A |
G |
4: 61,259,887 (GRCm39) |
M1T |
probably null |
Het |
| Myzap |
T |
A |
9: 71,468,320 (GRCm39) |
T110S |
probably benign |
Het |
| Nmrk1 |
A |
T |
19: 18,619,606 (GRCm39) |
K153M |
probably damaging |
Het |
| Nmrk1 |
G |
T |
19: 18,619,607 (GRCm39) |
K153N |
possibly damaging |
Het |
| Or4x12-ps1 |
T |
A |
2: 89,916,704 (GRCm39) |
M34L |
probably benign |
Het |
| Or6c70 |
A |
T |
10: 129,710,551 (GRCm39) |
I25N |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,414,842 (GRCm39) |
H761R |
possibly damaging |
Het |
| Pde4d |
C |
A |
13: 109,253,301 (GRCm39) |
L43I |
unknown |
Het |
| Prrc2a |
A |
T |
17: 35,381,330 (GRCm39) |
S46R |
unknown |
Het |
| Rab19 |
A |
G |
6: 39,365,039 (GRCm39) |
T100A |
probably benign |
Het |
| Rad51b |
C |
T |
12: 79,347,359 (GRCm39) |
R8* |
probably null |
Het |
| Sclt1 |
A |
T |
3: 41,584,032 (GRCm39) |
L642Q |
probably damaging |
Het |
| Scyl3 |
T |
C |
1: 163,776,745 (GRCm39) |
I392T |
possibly damaging |
Het |
| Sipa1l3 |
A |
G |
7: 29,066,127 (GRCm39) |
W1076R |
probably damaging |
Het |
| Slc12a9 |
C |
A |
5: 137,321,082 (GRCm39) |
A478S |
probably damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,741,113 (GRCm39) |
C511F |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,450,647 (GRCm39) |
L2612P |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,881,651 (GRCm39) |
T329I |
probably benign |
Het |
| Tdrd9 |
A |
G |
12: 112,034,071 (GRCm39) |
T1338A |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,486,521 (GRCm39) |
D996V |
possibly damaging |
Het |
| Ticam2 |
T |
A |
18: 46,693,584 (GRCm39) |
I168L |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,547,185 (GRCm39) |
I374M |
probably benign |
Het |
| Trip10 |
A |
T |
17: 57,557,966 (GRCm39) |
K51I |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,656,545 (GRCm39) |
D735E |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,307,481 (GRCm39) |
N1050K |
possibly damaging |
Het |
| Tuba8 |
A |
T |
6: 121,202,980 (GRCm39) |
D431V |
probably damaging |
Het |
| Ucn2 |
C |
T |
9: 108,815,322 (GRCm39) |
T28I |
possibly damaging |
Het |
| Vmn1r21 |
C |
T |
6: 57,820,877 (GRCm39) |
G189D |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,945,522 (GRCm39) |
N695S |
possibly damaging |
Het |
| Xirp2 |
A |
C |
2: 67,355,904 (GRCm39) |
N3555T |
possibly damaging |
Het |
| Zfp119a |
A |
T |
17: 56,173,158 (GRCm39) |
H228Q |
probably damaging |
Het |
| Zfr |
T |
A |
15: 12,153,068 (GRCm39) |
H566Q |
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 |
|
|
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 |
|
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'- TGGCTGGTCCTTAATGGTTCTAAC -3'
(R):5'- ACGAGAGAATTCCCCTCAGC -3'
Sequencing Primer
(F):5'- ATGTCTCGTCTCAGCTTG -3'
(R):5'- GAGAGAATTCCCCTCAGCTCCTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation