Incidental Mutation 'IGL02470:Arl4a'
ID 294702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl4a
Ensembl Gene ENSMUSG00000047446
Gene Name ADP-ribosylation factor-like 4A
Synonyms Arl4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02470
Quality Score
Status
Chromosome 12
Chromosomal Location 40083290-40087986 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 40086747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101472] [ENSMUST00000136441] [ENSMUST00000144910] [ENSMUST00000146905]
AlphaFold P61213
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
Adcy10 A G 1: 165,395,295 (GRCm39) Y1422C probably damaging Het
Adnp T A 2: 168,025,114 (GRCm39) K727I probably damaging Het
Akr1c21 A T 13: 4,627,406 (GRCm39) N167Y probably damaging Het
BB014433 A T 8: 15,092,803 (GRCm39) F17I unknown Het
Best1 T C 19: 9,970,340 (GRCm39) S91G probably benign Het
Ccdc148 A T 2: 58,891,911 (GRCm39) S235T probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dcc A T 18: 72,088,153 (GRCm39) probably benign Het
Dnajc13 G A 9: 104,052,946 (GRCm39) T1672I probably benign Het
Elf3 A T 1: 135,182,750 (GRCm39) F325Y probably damaging Het
Enpp2 A G 15: 54,702,856 (GRCm39) L880P probably damaging Het
Fndc3b A G 3: 27,515,869 (GRCm39) Y646H probably damaging Het
Fzd6 A T 15: 38,899,952 (GRCm39) probably benign Het
Gnb1 T A 4: 155,611,970 (GRCm39) probably benign Het
Mast1 C A 8: 85,647,841 (GRCm39) G511V probably damaging Het
Mcmbp T C 7: 128,306,345 (GRCm39) I424M possibly damaging Het
Mobp A G 9: 119,997,072 (GRCm39) T68A probably benign Het
Myh11 T C 16: 14,035,910 (GRCm39) E1006G probably damaging Het
Ncstn A G 1: 171,910,166 (GRCm39) probably null Het
Or1j12 A G 2: 36,342,609 (GRCm39) D4G probably benign Het
Or8k39 A T 2: 86,563,929 (GRCm39) V9E probably damaging Het
Phip A T 9: 82,772,507 (GRCm39) V1075D possibly damaging Het
Sanbr A T 11: 23,565,222 (GRCm39) M255K probably damaging Het
Serpinb1a C T 13: 33,034,376 (GRCm39) S5N probably damaging Het
Slc15a3 A G 19: 10,830,534 (GRCm39) N295S probably benign Het
Trmt13 A C 3: 116,383,877 (GRCm39) probably null Het
Trp63 A C 16: 25,639,134 (GRCm39) probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Arl4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02838:Arl4a APN 12 40,086,303 (GRCm39) missense probably benign 0.00
R5208:Arl4a UTSW 12 40,086,744 (GRCm39) start codon destroyed probably null 1.00
R6155:Arl4a UTSW 12 40,086,519 (GRCm39) missense probably damaging 1.00
R8493:Arl4a UTSW 12 40,086,472 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16