Incidental Mutation 'IGL03401:Agbl4'
ID 421409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agbl4
Ensembl Gene ENSMUSG00000061298
Gene Name ATP/GTP binding protein-like 4
Synonyms 4931433A01Rik, Ccp6, 4930578N11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03401
Quality Score
Status
Chromosome 4
Chromosomal Location 110254858-111521521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 110976216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 191 (R191L)
Ref Sequence ENSEMBL: ENSMUSP00000102201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080744] [ENSMUST00000097920] [ENSMUST00000106591] [ENSMUST00000106592]
AlphaFold Q09LZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000080744
AA Change: R191L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079568
Gene: ENSMUSG00000061298
AA Change: R191L

DomainStartEndE-ValueType
Zn_pept 169 436 4.95e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097920
AA Change: R191L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095533
Gene: ENSMUSG00000061298
AA Change: R191L

DomainStartEndE-ValueType
Zn_pept 169 465 3.6e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106591
AA Change: R191L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102201
Gene: ENSMUSG00000061298
AA Change: R191L

DomainStartEndE-ValueType
Pfam:Peptidase_M14 174 321 3.7e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106592
AA Change: R191L

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102202
Gene: ENSMUSG00000061298
AA Change: R191L

DomainStartEndE-ValueType
Zn_pept 169 436 4.95e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136433
Predicted Effect unknown
Transcript: ENSMUST00000148038
AA Change: R36L
SMART Domains Protein: ENSMUSP00000118551
Gene: ENSMUSG00000061298
AA Change: R36L

DomainStartEndE-ValueType
Zn_pept 15 267 9.65e-4 SMART
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,384,223 (GRCm39) R581* probably null Het
Actn1 A T 12: 80,215,741 (GRCm39) L799* probably null Het
Adam12 A T 7: 133,518,192 (GRCm39) N327K probably damaging Het
Adamts9 A G 6: 92,763,849 (GRCm39) V1314A probably damaging Het
Ano6 T C 15: 95,847,786 (GRCm39) I611T probably damaging Het
Arhgef26 T A 3: 62,330,953 (GRCm39) S556T possibly damaging Het
AW209491 A G 13: 14,812,041 (GRCm39) D298G probably benign Het
Cc2d1a A G 8: 84,861,258 (GRCm39) M763T probably benign Het
Cep290 A G 10: 100,336,127 (GRCm39) D388G probably benign Het
Cept1 T C 3: 106,440,706 (GRCm39) E151G probably damaging Het
Chat T C 14: 32,174,526 (GRCm39) K139E probably damaging Het
Edc4 T A 8: 106,614,146 (GRCm39) Y7* probably null Het
Enpep T A 3: 129,106,269 (GRCm39) Q319L probably benign Het
F13a1 A G 13: 37,082,054 (GRCm39) I550T probably benign Het
Fbxw19 A G 9: 109,324,038 (GRCm39) probably null Het
Frem3 T G 8: 81,341,170 (GRCm39) D1154E probably damaging Het
Frmpd1 G T 4: 45,284,383 (GRCm39) C1068F probably benign Het
Fsip2 C A 2: 82,820,814 (GRCm39) P5516T probably benign Het
Hyou1 G A 9: 44,296,206 (GRCm39) A429T probably damaging Het
Lrp1b C T 2: 41,000,790 (GRCm39) E2145K probably benign Het
Map1b A T 13: 99,563,776 (GRCm39) V2397D unknown Het
Mcm3ap T C 10: 76,320,483 (GRCm39) probably benign Het
Mgst2 T G 3: 51,571,933 (GRCm39) S20R possibly damaging Het
Nr4a3 T A 4: 48,070,987 (GRCm39) probably null Het
Nup93 T A 8: 95,036,339 (GRCm39) probably null Het
Or1e1f T C 11: 73,856,388 (GRCm39) probably benign Het
Papola A T 12: 105,795,381 (GRCm39) T611S probably benign Het
Pik3ca C A 3: 32,491,963 (GRCm39) probably null Het
Pklr T C 3: 89,050,036 (GRCm39) V337A probably benign Het
Prl7b1 A G 13: 27,785,964 (GRCm39) Y235H probably benign Het
Proc T C 18: 32,256,326 (GRCm39) Y447C possibly damaging Het
Pum1 T C 4: 130,470,992 (GRCm39) probably benign Het
Rimklb A T 6: 122,441,077 (GRCm39) I32N probably damaging Het
Rrm1 T A 7: 102,114,951 (GRCm39) D644E possibly damaging Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Shbg A G 11: 69,505,925 (GRCm39) S361P probably damaging Het
Trmt9b A C 8: 36,972,823 (GRCm39) D91A probably damaging Het
Zfp647 T A 15: 76,795,568 (GRCm39) H364L probably damaging Het
Zfp715 A T 7: 42,949,160 (GRCm39) S267T probably benign 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
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
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
Posted On 2016-08-02