Incidental Mutation 'IGL00913:Arl4c'
ID 26624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl4c
Ensembl Gene ENSMUSG00000049866
Gene Name ADP-ribosylation factor-like 4C
Synonyms Arl7, A630084M22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # IGL00913
Quality Score
Status
Chromosome 1
Chromosomal Location 88625947-88629913 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88629106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 94 (D94G)
Ref Sequence ENSEMBL: ENSMUSP00000139499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051236] [ENSMUST00000159814] [ENSMUST00000187810]
AlphaFold P61208
Predicted Effect probably damaging
Transcript: ENSMUST00000051236
AA Change: D94G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057085
Gene: ENSMUSG00000049866
AA Change: D94G

DomainStartEndE-ValueType
ARF 1 183 5.19e-54 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159814
AA Change: D94G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124344
Gene: ENSMUSG00000049866
AA Change: D94G

DomainStartEndE-ValueType
ARF 1 183 5.19e-54 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187810
AA Change: D94G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139499
Gene: ENSMUSG00000049866
AA Change: D94G

DomainStartEndE-ValueType
ARF 1 183 5.19e-54 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 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 A G 17: 42,977,793 (GRCm39) S517P possibly damaging Het
Bag5 T C 12: 111,677,766 (GRCm39) E19G probably damaging Het
Carf T A 1: 60,187,114 (GRCm39) D537E probably benign Het
Cd177 C A 7: 24,455,620 (GRCm39) D301Y probably damaging Het
Csmd1 C T 8: 16,121,301 (GRCm39) V1799I probably benign Het
Cyp4x1 T A 4: 114,970,060 (GRCm39) I356F probably benign Het
F5 A T 1: 164,032,465 (GRCm39) H1804L probably damaging Het
Fras1 G T 5: 96,842,935 (GRCm39) G1718C probably damaging Het
Ganc T C 2: 120,269,933 (GRCm39) probably benign Het
Hs3st5 A G 10: 36,708,846 (GRCm39) D127G probably damaging Het
Inpp5a A G 7: 139,096,637 (GRCm39) D154G probably benign Het
Kif16b T A 2: 142,545,927 (GRCm39) R1134* probably null Het
Lrrc66 C T 5: 73,765,499 (GRCm39) A515T possibly damaging Het
Map3k10 C T 7: 27,362,640 (GRCm39) probably benign Het
Mideas T A 12: 84,219,632 (GRCm39) I441L probably benign Het
Mrpl12 G A 11: 120,376,202 (GRCm39) D71N possibly damaging Het
Nfix A T 8: 85,453,106 (GRCm39) V316E probably damaging Het
Nop2 A G 6: 125,116,784 (GRCm39) Y346C probably damaging Het
Nrbp1 A G 5: 31,408,403 (GRCm39) E513G possibly damaging Het
Ogfrl1 T C 1: 23,409,171 (GRCm39) I352V probably benign Het
Or7a35 A G 10: 78,854,085 (GRCm39) T310A probably benign Het
Or8b48 T A 9: 38,492,672 (GRCm39) V33E probably damaging Het
Oxr1 G A 15: 41,683,539 (GRCm39) V15I possibly damaging Het
Pik3r6 T G 11: 68,442,147 (GRCm39) F697C probably damaging Het
Ptk2 A G 15: 73,167,238 (GRCm39) probably benign Het
Rnft2 G A 5: 118,339,280 (GRCm39) T380M probably damaging Het
Scel A G 14: 103,819,245 (GRCm39) N346S probably benign Het
Sema4a T A 3: 88,357,117 (GRCm39) T153S probably damaging Het
Serinc2 A T 4: 130,158,201 (GRCm39) L82Q possibly damaging Het
Sin3a A G 9: 57,005,402 (GRCm39) T392A probably benign Het
Slc25a38 T A 9: 119,949,373 (GRCm39) Y108* probably null Het
Tmc8 G A 11: 117,677,330 (GRCm39) G317R probably damaging Het
Trpc3 A G 3: 36,694,788 (GRCm39) V722A possibly damaging Het
Unc93a2 A T 17: 7,637,138 (GRCm39) V130D probably damaging Het
Other mutations in Arl4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1473:Arl4c UTSW 1 88,629,331 (GRCm39) missense probably damaging 0.99
R5102:Arl4c UTSW 1 88,629,322 (GRCm39) missense probably damaging 0.99
R6048:Arl4c UTSW 1 88,629,350 (GRCm39) missense possibly damaging 0.59
R6134:Arl4c UTSW 1 88,629,152 (GRCm39) missense probably damaging 0.99
R6894:Arl4c UTSW 1 88,629,097 (GRCm39) missense probably damaging 1.00
R7328:Arl4c UTSW 1 88,629,239 (GRCm39) nonsense probably null
R9562:Arl4c UTSW 1 88,629,134 (GRCm39) missense probably damaging 0.98
R9565:Arl4c UTSW 1 88,629,134 (GRCm39) missense probably damaging 0.98
R9654:Arl4c UTSW 1 88,629,361 (GRCm39) nonsense probably null
Z1176:Arl4c UTSW 1 88,629,172 (GRCm39) missense possibly damaging 0.85
Posted On 2013-04-17