Incidental Mutation 'R1086:Agbl4'
ID 85017
Institutional Source Beutler Lab
Gene Symbol Agbl4
Ensembl Gene ENSMUSG00000061298
Gene Name ATP/GTP binding protein-like 4
Synonyms 4931433A01Rik, Ccp6, 4930578N11Rik
MMRRC Submission 039172-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1086 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 110254858-111521521 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to C at 110335791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080744] [ENSMUST00000097920] [ENSMUST00000106587] [ENSMUST00000106589] [ENSMUST00000106591] [ENSMUST00000106592]
AlphaFold Q09LZ8
Predicted Effect probably benign
Transcript: ENSMUST00000080744
SMART Domains Protein: ENSMUSP00000079568
Gene: ENSMUSG00000061298

DomainStartEndE-ValueType
Zn_pept 169 436 4.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097920
SMART Domains Protein: ENSMUSP00000095533
Gene: ENSMUSG00000061298

DomainStartEndE-ValueType
Zn_pept 169 465 3.6e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106587
Predicted Effect probably benign
Transcript: ENSMUST00000106589
Predicted Effect probably benign
Transcript: ENSMUST00000106591
SMART Domains Protein: ENSMUSP00000102201
Gene: ENSMUSG00000061298

DomainStartEndE-ValueType
Pfam:Peptidase_M14 174 321 3.7e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106592
SMART Domains Protein: ENSMUSP00000102202
Gene: ENSMUSG00000061298

DomainStartEndE-ValueType
Zn_pept 169 436 4.95e-4 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.4%
Validation Efficiency 100% (53/53)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,334,220 (GRCm39) probably benign Het
Ano6 T C 15: 95,847,843 (GRCm39) probably null Het
B3gnt8 C G 7: 25,327,736 (GRCm39) N55K probably damaging Het
Brox A G 1: 183,064,052 (GRCm39) Y252H probably damaging Het
Cfap100 T A 6: 90,380,890 (GRCm39) K605* probably null Het
Chd7 A G 4: 8,866,458 (GRCm39) T877A probably benign Het
Csmd3 T A 15: 47,559,151 (GRCm39) I2371F probably damaging Het
Cwc22 T A 2: 77,754,824 (GRCm39) probably benign Het
Cyp2s1 A T 7: 25,505,422 (GRCm39) D347E probably damaging Het
Dab1 C A 4: 104,185,769 (GRCm39) probably benign Het
Dis3l2 G A 1: 86,917,871 (GRCm39) D493N probably benign Het
Got1l1 A G 8: 27,688,007 (GRCm39) W341R probably damaging Het
Gps2 A G 11: 69,806,050 (GRCm39) probably benign Het
Haus1 A C 18: 77,854,553 (GRCm39) probably benign Het
Itgam T C 7: 127,679,436 (GRCm39) S193P probably damaging Het
Itpr2 C A 6: 146,251,543 (GRCm39) A1034S probably damaging Het
Lrp5 T C 19: 3,699,476 (GRCm39) R270G probably benign Het
Ltbr G A 6: 125,289,703 (GRCm39) probably benign Het
Mdga2 T C 12: 66,552,876 (GRCm39) probably benign Het
Mug1 T A 6: 121,862,813 (GRCm39) M1387K probably damaging Het
Nwd2 C T 5: 63,963,917 (GRCm39) S1167L probably damaging Het
Or5h19 T A 16: 58,856,626 (GRCm39) H158L probably damaging Het
Pfkm T C 15: 98,029,546 (GRCm39) V719A probably benign Het
Ppfia3 C G 7: 45,011,182 (GRCm39) G16A probably damaging Het
Ppp2r3d G A 9: 101,031,021 (GRCm39) T245I possibly damaging Het
Ptprd T C 4: 76,051,495 (GRCm39) T256A probably damaging Het
Ptprg C T 14: 11,952,706 (GRCm38) probably benign Het
Rabgap1 T C 2: 37,359,458 (GRCm39) V7A probably damaging Het
Rnh1 T G 7: 140,743,282 (GRCm39) Q231P probably benign Het
Rwdd2b C T 16: 87,233,446 (GRCm39) probably benign Het
Saal1 T C 7: 46,338,883 (GRCm39) probably benign Het
Sap130 G A 18: 31,783,673 (GRCm39) probably benign Het
Serpina1d T G 12: 103,730,046 (GRCm39) M379L probably benign Het
Skor2 A C 18: 76,946,994 (GRCm39) S239R unknown Het
Slc16a13 A G 11: 70,109,850 (GRCm39) L217P probably damaging Het
Slc18b1 T C 10: 23,679,693 (GRCm39) M74T probably benign Het
Speer4e2 T C 5: 15,028,804 (GRCm39) D29G probably benign Het
Tacc2 A T 7: 130,228,227 (GRCm39) E1637D possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tg A C 15: 66,555,911 (GRCm39) I868L probably benign Het
Ttll5 G A 12: 85,937,853 (GRCm39) V395I possibly damaging Het
Uba6 C A 5: 86,275,578 (GRCm39) C739F probably benign Het
Unc5d A C 8: 29,365,658 (GRCm39) V109G possibly damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp462 G T 4: 55,013,000 (GRCm39) K507N probably damaging Het
Other mutations in Agbl4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACTAGAGGTCCCAATGTTAGTGTGTGA -3'
(R):5'- TTCCAAAAGACCAACTTCCATGACTGT -3'

Sequencing Primer
(F):5'- TCCCAATGTTAGTGTGTGATAGAG -3'
(R):5'- CATGACTGTCTTAAACTCATGGAG -3'
Posted On 2013-11-18