Incidental Mutation 'R6155:Arl4a'
ID 489536
Institutional Source Beutler Lab
Gene Symbol Arl4a
Ensembl Gene ENSMUSG00000047446
Gene Name ADP-ribosylation factor-like 4A
Synonyms Arl4
MMRRC Submission 044302-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6155 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 40083290-40087986 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 40086519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 76 (V76G)
Ref Sequence ENSEMBL: ENSMUSP00000114458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101472] [ENSMUST00000136441] [ENSMUST00000144910] [ENSMUST00000146905]
AlphaFold P61213
Predicted Effect probably damaging
Transcript: ENSMUST00000101472
AA Change: V76G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099013
Gene: ENSMUSG00000047446
AA Change: V76G

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 damaging
Transcript: ENSMUST00000146905
AA Change: V76G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114458
Gene: ENSMUSG00000047446
AA Change: V76G

DomainStartEndE-ValueType
ARF 1 190 1.31e-50 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.1%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T C 5: 105,111,510 (GRCm39) Y319C probably benign Het
Actn4 A C 7: 28,595,566 (GRCm39) I763S probably damaging Het
Actr8 G A 14: 29,700,546 (GRCm39) probably null Het
Adrb1 T C 19: 56,711,336 (GRCm39) L178P probably damaging Het
Afap1 A G 5: 36,092,953 (GRCm39) Y19C unknown Het
Ankrd36 A G 11: 5,637,442 (GRCm39) E1337G probably benign Het
Bmp1 A T 14: 70,745,447 (GRCm39) I246K probably damaging Het
Camk4 A T 18: 33,072,500 (GRCm39) T18S unknown Het
Cep152 T C 2: 125,423,620 (GRCm39) H927R probably benign Het
Clca3a2 A G 3: 144,525,118 (GRCm39) I38T probably damaging Het
Clec2g A C 6: 128,957,236 (GRCm39) T54P probably damaging Het
Cox20 A G 1: 178,149,362 (GRCm39) E31G possibly damaging Het
Crispld1 T A 1: 17,823,241 (GRCm39) H407Q probably benign Het
Csmd1 T C 8: 15,953,231 (GRCm39) I3417V probably benign Het
Dhtkd1 A C 2: 5,915,170 (GRCm39) H700Q probably null Het
Dnah10 G A 5: 124,847,663 (GRCm39) V1516M probably damaging Het
Dnah10 A G 5: 124,862,239 (GRCm39) T2165A probably damaging Het
Dock2 C G 11: 34,244,123 (GRCm39) M1072I probably benign Het
F11 T A 8: 45,705,119 (GRCm39) T141S probably damaging Het
Gabra6 T A 11: 42,207,350 (GRCm39) I245F probably damaging Het
H2-T5 G A 17: 36,478,399 (GRCm39) A211V possibly damaging Het
Herc1 T A 9: 66,340,705 (GRCm39) C1685S possibly damaging Het
Iftap A T 2: 101,406,355 (GRCm39) probably null Het
Il20 G T 1: 130,838,477 (GRCm39) D73E probably damaging Het
Ireb2 C A 9: 54,793,811 (GRCm39) P247Q probably damaging Het
Kcng3 T C 17: 83,895,807 (GRCm39) I220V probably benign Het
Lce1j T G 3: 92,696,379 (GRCm39) Q133P unknown Het
Lgals9 C T 11: 78,854,331 (GRCm39) A287T probably benign Het
Lrrc52 A G 1: 167,294,296 (GRCm39) probably benign Het
Map3k5 A T 10: 19,994,187 (GRCm39) H1027L probably benign Het
Morc3 A G 16: 93,659,313 (GRCm39) D407G possibly damaging Het
Myom1 T C 17: 71,415,690 (GRCm39) probably null Het
Ncapg2 T C 12: 116,401,631 (GRCm39) F673S possibly damaging Het
Ncoa6 T C 2: 155,249,368 (GRCm39) D1312G probably damaging Het
Nkx1-1 A T 5: 33,588,395 (GRCm39) F298I probably damaging Het
Npas2 G A 1: 39,326,557 (GRCm39) R14Q probably damaging Het
Npas4 C T 19: 5,036,898 (GRCm39) C422Y probably damaging Het
Or11h4 T C 14: 50,974,076 (GRCm39) D181G probably benign Het
Or2y11 T A 11: 49,443,411 (GRCm39) I279N possibly damaging Het
Or4c123 A G 2: 89,126,765 (GRCm39) L283S probably damaging Het
Or5p4 T C 7: 107,680,493 (GRCm39) V164A probably benign Het
Pcdhga4 T C 18: 37,819,546 (GRCm39) I365T probably damaging Het
Pear1 T A 3: 87,666,875 (GRCm39) T37S probably damaging Het
Pkn2 A T 3: 142,559,454 (GRCm39) F24I probably benign Het
Plcb3 G A 19: 6,943,533 (GRCm39) A122V probably damaging Het
Pnliprp1 T C 19: 58,718,565 (GRCm39) probably null Het
Pramel28 T A 4: 143,691,712 (GRCm39) H337L probably benign Het
Psmb3 T A 11: 97,603,278 (GRCm39) F164I probably damaging Het
Ptch2 T A 4: 116,954,105 (GRCm39) F45Y probably damaging Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Pusl1 A G 4: 155,975,005 (GRCm39) S199P probably damaging Het
Rasgrp2 C A 19: 6,452,531 (GRCm39) L35I probably damaging Het
Rictor T C 15: 6,823,458 (GRCm39) L1545P probably benign Het
Rtn4r A T 16: 17,969,258 (GRCm39) M229L probably benign Het
Ruvbl1 A T 6: 88,456,107 (GRCm39) probably null Het
Slc35b3 A T 13: 39,128,572 (GRCm39) S30T probably damaging Het
Sorcs3 T C 19: 48,387,136 (GRCm39) V207A possibly damaging Het
Sox13 A G 1: 133,321,005 (GRCm39) S2P probably damaging Het
Sptbn1 A C 11: 30,087,403 (GRCm39) L999R probably damaging Het
Taf4 A G 2: 179,555,317 (GRCm39) V1015A probably damaging Het
Top3b T C 16: 16,709,373 (GRCm39) L687P probably damaging Het
Tpp2 T A 1: 43,995,649 (GRCm39) V268E probably damaging Het
Ttc6 T C 12: 57,784,402 (GRCm39) Y1824H possibly damaging Het
Txk A G 5: 72,858,069 (GRCm39) Y360H probably damaging Het
Vmn2r57 T C 7: 41,078,114 (GRCm39) I115V probably benign Het
Vmn2r98 T C 17: 19,286,143 (GRCm39) S214P possibly damaging Het
Zbtb48 T C 4: 152,106,495 (GRCm39) probably null Het
Zzz3 A G 3: 152,133,319 (GRCm39) I126V possibly damaging Het
Other mutations in Arl4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02470:Arl4a APN 12 40,086,747 (GRCm39) utr 5 prime probably benign
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
R8493:Arl4a UTSW 12 40,086,472 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCGAGTTCCTCAGGTCTTG -3'
(R):5'- AGACCAGACTTCCATCCTGTCC -3'

Sequencing Primer
(F):5'- GTTTATTAGCAACTATAAGCACAGGG -3'
(R):5'- ATCCTGTCCAGCCTGCCG -3'
Posted On 2017-10-10