Incidental Mutation 'R5208:Arl4a'
ID 402169
Institutional Source Beutler Lab
Gene Symbol Arl4a
Ensembl Gene ENSMUSG00000047446
Gene Name ADP-ribosylation factor-like 4A
Synonyms Arl4
MMRRC Submission 042783-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5208 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 40083290-40087986 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 40086744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000122987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101472] [ENSMUST00000136441] [ENSMUST00000144910] [ENSMUST00000146905]
AlphaFold P61213
Predicted Effect probably null
Transcript: ENSMUST00000101472
AA Change: M1K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099013
Gene: ENSMUSG00000047446
AA Change: M1K

DomainStartEndE-ValueType
ARF 1 190 1.31e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135883
Predicted Effect probably null
Transcript: ENSMUST00000136441
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122987
Gene: ENSMUSG00000047446
AA Change: M1K

DomainStartEndE-ValueType
Pfam:Arf 8 64 8.6e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000144910
AA Change: M1K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122126
Gene: ENSMUSG00000047446
AA Change: M1K

DomainStartEndE-ValueType
Pfam:Arf 8 64 8.6e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000146905
AA Change: M1K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114458
Gene: ENSMUSG00000047446
AA Change: M1K

DomainStartEndE-ValueType
ARF 1 190 1.31e-50 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,344,398 (GRCm39) N58I probably benign Het
Adgra3 T C 5: 50,168,857 (GRCm39) D163G probably damaging Het
Alcam C A 16: 52,115,411 (GRCm39) E236* probably null Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Aplf G T 6: 87,619,008 (GRCm39) probably null Het
Asic4 A G 1: 75,427,870 (GRCm39) D132G probably damaging Het
Bbs12 T C 3: 37,374,422 (GRCm39) I290T probably benign Het
BC024139 A G 15: 76,008,865 (GRCm39) S290P probably benign Het
Bmp6 G A 13: 38,653,673 (GRCm39) A247T probably benign Het
Cadps A G 14: 12,457,711 (GRCm38) S1057P possibly damaging Het
Caprin1 A C 2: 103,599,778 (GRCm39) probably null Het
Cdc42bpg G A 19: 6,371,750 (GRCm39) R1343K probably benign Het
Cdk18 A T 1: 132,045,218 (GRCm39) probably null Het
Cenpf A T 1: 189,403,243 (GRCm39) probably null Het
Cfhr1 A T 1: 139,484,068 (GRCm39) probably null Het
Chn2 A T 6: 54,272,786 (GRCm39) I201F probably damaging Het
Chrdl2 A G 7: 99,673,129 (GRCm39) D175G probably damaging Het
Disp2 G T 2: 118,622,286 (GRCm39) R1006L probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dnah3 C G 7: 119,631,861 (GRCm39) D1365H probably damaging Het
Efcab8 T A 2: 153,644,343 (GRCm39) Y372* probably null Het
Eftud2 G A 11: 102,732,011 (GRCm39) P768S probably damaging Het
Ehmt1 A C 2: 24,691,545 (GRCm39) S1170A probably benign Het
Gdpd4 A C 7: 97,664,118 (GRCm39) K572Q probably benign Het
Gm7356 T C 17: 14,221,456 (GRCm39) E191G probably damaging Het
Gm8674 A T 13: 50,055,957 (GRCm39) noncoding transcript Het
Gulp1 T G 1: 44,820,199 (GRCm39) H235Q probably benign Het
Hormad1 T C 3: 95,485,418 (GRCm39) V202A possibly damaging Het
Inpp5b G A 4: 124,645,110 (GRCm39) D179N possibly damaging Het
Kcnk4 T A 19: 6,905,069 (GRCm39) Y194F possibly damaging Het
Lars1 A C 18: 42,350,622 (GRCm39) S896A probably benign Het
Lonp1 A G 17: 56,924,793 (GRCm39) V538A probably damaging Het
Map3k14 A T 11: 103,129,972 (GRCm39) L315Q probably damaging Het
Met T A 6: 17,526,422 (GRCm39) Y500* probably null Het
Mga T G 2: 119,778,462 (GRCm39) I2093M possibly damaging Het
Mpl T G 4: 118,313,078 (GRCm39) I152L probably benign Het
Mthfsd G A 8: 121,835,058 (GRCm39) probably benign Het
Mup4 A G 4: 59,958,119 (GRCm39) F150L probably damaging Het
Mybph T A 1: 134,121,273 (GRCm39) V11D probably benign Het
Or4f54 A T 2: 111,122,946 (GRCm39) E111V probably damaging Het
Or52n2c A G 7: 104,574,933 (GRCm39) F13L probably benign Het
Or5ak20 T A 2: 85,184,142 (GRCm39) I43F probably benign Het
Pde4a T C 9: 21,114,854 (GRCm39) probably null Het
Pex2 C T 3: 5,626,428 (GRCm39) R127H probably benign Het
Pgap3 A G 11: 98,288,874 (GRCm39) W94R probably damaging Het
Prl4a1 T C 13: 28,202,467 (GRCm39) V14A probably benign Het
Psg25 A T 7: 18,260,460 (GRCm39) I146N probably benign Het
Ptprn2 A G 12: 116,822,548 (GRCm39) Y209C probably damaging Het
Scart2 C A 7: 139,877,949 (GRCm39) A977D probably benign Het
Sema4c T A 1: 36,589,407 (GRCm39) D573V probably damaging Het
Setx A T 2: 29,056,379 (GRCm39) I2192F possibly damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Sp4 A G 12: 118,263,281 (GRCm39) L255P probably damaging Het
Spaca7 A G 8: 12,636,456 (GRCm39) Y94C probably damaging Het
Stt3a T G 9: 36,657,891 (GRCm39) I390L possibly damaging Het
Tars2 A G 3: 95,654,905 (GRCm39) W128R probably damaging Het
Tll1 G A 8: 64,504,527 (GRCm39) T623M probably damaging Het
Tmem129 A T 5: 33,812,850 (GRCm39) V166E probably damaging Het
Tmem200a T A 10: 25,870,051 (GRCm39) I73F probably benign Het
Tnks1bp1 T C 2: 84,900,976 (GRCm39) M1561T probably damaging Het
Zfat A T 15: 68,052,570 (GRCm39) I401N probably damaging Het
Zfp142 A T 1: 74,610,027 (GRCm39) V1153E probably benign Het
Zwilch T C 9: 64,060,205 (GRCm39) I354V probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TTTGGAATTGCCCAAGGTTACC -3'
(R):5'- CTCATCTGGTGTGTTTACTCACAG -3'

Sequencing Primer
(F):5'- GCCCAAGGTTACCTTAATTTTCTCAG -3'
(R):5'- CTCACAGCAAGTTTTATTAAGTCCC -3'
Posted On 2016-07-22