Incidental Mutation 'R5091:Agbl4'
ID |
453053 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl4
|
Ensembl Gene |
ENSMUSG00000061298 |
Gene Name |
ATP/GTP binding protein-like 4 |
Synonyms |
4931433A01Rik, Ccp6, 4930578N11Rik |
MMRRC Submission |
042680-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5091 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110976237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 198
(V198A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080744]
[ENSMUST00000097920]
[ENSMUST00000106591]
[ENSMUST00000106592]
|
AlphaFold |
Q09LZ8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080744
AA Change: V198A
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000079568 Gene: ENSMUSG00000061298 AA Change: V198A
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097920
AA Change: V198A
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000095533 Gene: ENSMUSG00000061298 AA Change: V198A
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
465 |
3.6e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106591
AA Change: V198A
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102201 Gene: ENSMUSG00000061298 AA Change: V198A
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M14
|
174 |
321 |
3.7e-33 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106592
AA Change: V198A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102202 Gene: ENSMUSG00000061298 AA Change: V198A
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136433
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148038
AA Change: V43A
|
SMART Domains |
Protein: ENSMUSP00000118551 Gene: ENSMUSG00000061298 AA Change: V43A
Domain | Start | End | E-Value | Type |
Zn_pept
|
15 |
267 |
9.65e-4 |
SMART |
|
Meta Mutation Damage Score |
0.2253 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
96% (67/70) |
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 |
4833439L19Rik |
A |
G |
13: 54,701,057 (GRCm39) |
S174P |
probably damaging |
Het |
4931414P19Rik |
T |
C |
14: 54,823,168 (GRCm39) |
E343G |
probably damaging |
Het |
Abca14 |
T |
C |
7: 119,851,497 (GRCm39) |
V825A |
probably damaging |
Het |
Abca8b |
G |
T |
11: 109,827,210 (GRCm39) |
T1466K |
possibly damaging |
Het |
Adcy8 |
A |
G |
15: 64,678,553 (GRCm39) |
S467P |
probably damaging |
Het |
Agpat4 |
A |
G |
17: 12,417,699 (GRCm39) |
K80R |
probably benign |
Het |
Akap8 |
T |
C |
17: 32,535,208 (GRCm39) |
T269A |
probably benign |
Het |
Ankhd1 |
A |
T |
18: 36,758,080 (GRCm39) |
I925F |
possibly damaging |
Het |
Aste1 |
A |
G |
9: 105,282,203 (GRCm39) |
Y57C |
probably damaging |
Het |
Axdnd1 |
A |
G |
1: 156,247,980 (GRCm39) |
S7P |
possibly damaging |
Het |
BC051019 |
T |
A |
7: 109,319,789 (GRCm39) |
R91S |
probably null |
Het |
Cavin2 |
C |
A |
1: 51,340,398 (GRCm39) |
N358K |
probably benign |
Het |
Cd2 |
T |
C |
3: 101,190,355 (GRCm39) |
N196S |
probably benign |
Het |
Clca3a1 |
C |
T |
3: 144,436,483 (GRCm39) |
V867I |
probably benign |
Het |
Col6a4 |
T |
A |
9: 105,952,262 (GRCm39) |
K545N |
probably damaging |
Het |
Cps1 |
T |
A |
1: 67,268,679 (GRCm39) |
|
probably null |
Het |
Cyp2c65 |
A |
T |
19: 39,076,009 (GRCm39) |
|
probably null |
Het |
Dcaf6 |
T |
C |
1: 165,157,572 (GRCm39) |
D856G |
possibly damaging |
Het |
Epcam |
T |
C |
17: 87,949,580 (GRCm39) |
I181T |
probably damaging |
Het |
Esrp2 |
A |
G |
8: 106,859,061 (GRCm39) |
S562P |
probably damaging |
Het |
Fcgbpl1 |
A |
C |
7: 27,856,383 (GRCm39) |
I2057L |
probably benign |
Het |
Ffar4 |
A |
G |
19: 38,085,627 (GRCm39) |
D18G |
probably benign |
Het |
Gen1 |
C |
T |
12: 11,296,347 (GRCm39) |
V337I |
probably damaging |
Het |
Gimap8 |
C |
T |
6: 48,633,581 (GRCm39) |
P467S |
possibly damaging |
Het |
Gnl3 |
T |
A |
14: 30,738,803 (GRCm39) |
H82L |
possibly damaging |
Het |
Grid2 |
T |
C |
6: 64,053,862 (GRCm39) |
S354P |
probably benign |
Het |
Ighmbp2 |
T |
A |
19: 3,315,084 (GRCm39) |
T779S |
possibly damaging |
Het |
Ints15 |
C |
T |
5: 143,293,443 (GRCm39) |
E345K |
possibly damaging |
Het |
Kif19a |
C |
A |
11: 114,673,923 (GRCm39) |
T348N |
probably damaging |
Het |
Lrrc15 |
T |
A |
16: 30,092,172 (GRCm39) |
N389I |
probably damaging |
Het |
Mrps26 |
A |
G |
2: 130,405,886 (GRCm39) |
Y63C |
probably damaging |
Het |
Myd88 |
C |
A |
9: 119,166,889 (GRCm39) |
V223F |
possibly damaging |
Het |
Nox4 |
T |
A |
7: 87,025,450 (GRCm39) |
W526R |
probably damaging |
Het |
Nrg2 |
A |
T |
18: 36,185,838 (GRCm39) |
N300K |
probably damaging |
Het |
Nsmf |
T |
C |
2: 24,950,464 (GRCm39) |
|
probably benign |
Het |
Patl2 |
A |
C |
2: 121,954,283 (GRCm39) |
H429Q |
probably benign |
Het |
Pcdhb12 |
A |
T |
18: 37,568,907 (GRCm39) |
K18* |
probably null |
Het |
Peg10 |
T |
A |
6: 4,754,511 (GRCm39) |
D97E |
probably benign |
Het |
Runx1t1 |
C |
T |
4: 13,846,830 (GRCm39) |
Q205* |
probably null |
Het |
Selenon |
T |
C |
4: 134,275,284 (GRCm39) |
K138R |
probably damaging |
Het |
Slc13a3 |
T |
C |
2: 165,262,000 (GRCm39) |
E369G |
probably benign |
Het |
Sorcs1 |
A |
G |
19: 50,248,190 (GRCm39) |
|
probably null |
Het |
Sptbn4 |
A |
T |
7: 27,068,816 (GRCm39) |
M499K |
probably damaging |
Het |
Sra1 |
A |
T |
18: 36,803,012 (GRCm39) |
|
probably benign |
Het |
Stra6 |
T |
C |
9: 58,048,429 (GRCm39) |
L174P |
probably damaging |
Het |
Syngr1 |
T |
C |
15: 80,000,086 (GRCm39) |
Y66H |
probably damaging |
Het |
Synpo |
G |
T |
18: 60,735,831 (GRCm39) |
S466* |
probably null |
Het |
Tenm3 |
T |
A |
8: 48,795,343 (GRCm39) |
M595L |
probably benign |
Het |
Tnks |
T |
C |
8: 35,308,963 (GRCm39) |
T1099A |
probably benign |
Het |
Tram1l1 |
G |
T |
3: 124,115,400 (GRCm39) |
V187F |
possibly damaging |
Het |
Trappc11 |
T |
C |
8: 47,965,639 (GRCm39) |
E529G |
probably benign |
Het |
Usp17la |
T |
C |
7: 104,510,139 (GRCm39) |
V248A |
probably damaging |
Het |
Virma |
T |
C |
4: 11,519,392 (GRCm39) |
Y880H |
probably benign |
Het |
Vmn1r214 |
C |
T |
13: 23,219,571 (GRCm39) |
T355I |
possibly damaging |
Het |
Vmn2r7 |
T |
C |
3: 64,598,205 (GRCm39) |
K784R |
possibly damaging |
Het |
Wrap53 |
C |
T |
11: 69,453,273 (GRCm39) |
W389* |
probably null |
Het |
Zfp748 |
A |
G |
13: 67,689,638 (GRCm39) |
S541P |
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 |
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'- CCACAGGAAGAACTATGTGATGTC -3'
(R):5'- GCCCTTGGAGCAATGAATCAC -3'
Sequencing Primer
(F):5'- CAGGAAGAACTATGTGATGTCCTTTG -3'
(R):5'- CCTTGGAGCAATGAATCACACTTTC -3'
|
Posted On |
2017-01-26 |