Incidental Mutation 'IGL02470:Arl4a'
ID294702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl4a
Ensembl Gene ENSMUSG00000047446
Gene NameADP-ribosylation factor-like 4A
SynonymsArl4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02470
Quality Score
Status
Chromosome12
Chromosomal Location40005447-40038025 bp(-) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) T to C at 40036748 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101472] [ENSMUST00000136441] [ENSMUST00000144910] [ENSMUST00000146905]
Predicted Effect probably benign
Transcript: ENSMUST00000101472
SMART Domains Protein: ENSMUSP00000099013
Gene: ENSMUSG00000047446

DomainStartEndE-ValueType
ARF 1 190 1.31e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135883
Predicted Effect probably benign
Transcript: ENSMUST00000136441
SMART Domains Protein: ENSMUSP00000122987
Gene: ENSMUSG00000047446

DomainStartEndE-ValueType
Pfam:Arf 8 64 8.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144910
SMART Domains Protein: ENSMUSP00000122126
Gene: ENSMUSG00000047446

DomainStartEndE-ValueType
Pfam:Arf 8 64 8.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146905
SMART Domains Protein: ENSMUSP00000114458
Gene: ENSMUSG00000047446

DomainStartEndE-ValueType
ARF 1 190 1.31e-50 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in small testes, reduced sperm count, and abnormal spermiogenesis. Both male and female homozygotes are fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,615,222 M255K probably damaging Het
Adcy10 A G 1: 165,567,726 Y1422C probably damaging Het
Adnp T A 2: 168,183,194 K727I probably damaging Het
Akr1c21 A T 13: 4,577,407 N167Y probably damaging Het
BB014433 A T 8: 15,042,803 F17I unknown Het
Best1 T C 19: 9,992,976 S91G probably benign Het
Ccdc148 A T 2: 59,001,899 S235T probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcc A T 18: 71,955,082 probably benign Het
Dnajc13 G A 9: 104,175,747 T1672I probably benign Het
Elf3 A T 1: 135,255,012 F325Y probably damaging Het
Enpp2 A G 15: 54,839,460 L880P probably damaging Het
Fndc3b A G 3: 27,461,720 Y646H probably damaging Het
Fzd6 A T 15: 39,036,557 probably benign Het
Gnb1 T A 4: 155,527,513 probably benign Het
Mast1 C A 8: 84,921,212 G511V probably damaging Het
Mcmbp T C 7: 128,704,621 I424M possibly damaging Het
Mobp A G 9: 120,168,006 T68A probably benign Het
Myh11 T C 16: 14,218,046 E1006G probably damaging Het
Ncstn A G 1: 172,082,599 probably null Het
Olfr1089 A T 2: 86,733,585 V9E probably damaging Het
Olfr340 A G 2: 36,452,597 D4G probably benign Het
Phip A T 9: 82,890,454 V1075D possibly damaging Het
Serpinb1a C T 13: 32,850,393 S5N probably damaging Het
Slc15a3 A G 19: 10,853,170 N295S probably benign Het
Trmt13 A C 3: 116,590,228 probably null Het
Trp63 A C 16: 25,820,384 probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Arl4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02838:Arl4a APN 12 40036304 missense probably benign 0.00
R5208:Arl4a UTSW 12 40036745 start codon destroyed probably null 1.00
R6155:Arl4a UTSW 12 40036520 missense probably damaging 1.00
Posted On2015-04-16