Incidental Mutation 'R5736:Arl8a'
ID 451688
Institutional Source Beutler Lab
Gene Symbol Arl8a
Ensembl Gene ENSMUSG00000026426
Gene Name ADP-ribosylation factor-like 8A
Synonyms 1110033P22Rik, Arl10b
MMRRC Submission 043194-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R5736 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 135074572-135084007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135082458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 150 (S150T)
Ref Sequence ENSEMBL: ENSMUSP00000027684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027684]
AlphaFold Q8VEH3
Predicted Effect probably benign
Transcript: ENSMUST00000027684
AA Change: S150T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027684
Gene: ENSMUSG00000026426
AA Change: S150T

DomainStartEndE-ValueType
ARF 1 185 2.25e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123344
Predicted Effect unknown
Transcript: ENSMUST00000125774
AA Change: S128T
SMART Domains Protein: ENSMUSP00000121545
Gene: ENSMUSG00000026426
AA Change: S128T

DomainStartEndE-ValueType
Pfam:Roc 16 113 1e-12 PFAM
Pfam:Ras 18 162 4.2e-16 PFAM
Pfam:Arf 19 160 6.6e-41 PFAM
Pfam:Gtr1_RagA 26 155 3.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157096
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.5%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630095N17Rik G A 1: 75,197,211 (GRCm39) probably benign Het
Akt1 G A 12: 112,623,284 (GRCm39) R367C probably benign Het
B020004C17Rik A T 14: 57,254,823 (GRCm39) T216S possibly damaging Het
Casz1 G A 4: 149,013,867 (GRCm39) V144I probably benign Het
Cd274 G T 19: 29,359,940 (GRCm39) L248F probably benign Het
Crisp4 T C 1: 18,185,939 (GRCm39) T266A probably benign Het
Dlx6 A T 6: 6,863,660 (GRCm39) H94L probably damaging Het
Exoc1 A G 5: 76,685,615 (GRCm39) N109S possibly damaging Het
Grik2 T C 10: 49,280,506 (GRCm39) E128G probably damaging Het
Hs3st4 G A 7: 123,996,662 (GRCm39) E443K probably damaging Het
Ihh T C 1: 74,985,286 (GRCm39) T400A probably benign Het
Lamb1 T A 12: 31,352,664 (GRCm39) C806* probably null Het
Lrrn1 T C 6: 107,544,345 (GRCm39) S48P probably damaging Het
Lsm11 T C 11: 45,835,594 (GRCm39) N49S possibly damaging Het
Map3k11 C T 19: 5,746,739 (GRCm39) A507V probably damaging Het
Mill2 A T 7: 18,592,174 (GRCm39) Q265L probably benign Het
Odad2 T C 18: 7,268,416 (GRCm39) T368A probably benign Het
Or4s2b T C 2: 88,508,985 (GRCm39) M255T probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Peg10 T A 6: 4,754,423 (GRCm39) L68Q probably benign Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Prkag2 A T 5: 25,083,720 (GRCm39) Y88N probably damaging Het
Prmt5 A C 14: 54,752,297 (GRCm39) D166E probably null Het
Robo4 A T 9: 37,316,093 (GRCm39) T366S possibly damaging Het
Samd3 T C 10: 26,146,070 (GRCm39) I365T probably damaging Het
Sdf2l1 A T 16: 16,949,571 (GRCm39) C92S probably damaging Het
Serpinb6e A G 13: 34,016,753 (GRCm39) F327L probably damaging Het
Slc17a6 G A 7: 51,294,841 (GRCm39) V183I possibly damaging Het
Slc6a11 T C 6: 114,139,123 (GRCm39) S244P probably damaging Het
Slc6a5 A G 7: 49,609,102 (GRCm39) D769G probably benign Het
Slc7a14 A T 3: 31,278,059 (GRCm39) D515E probably benign Het
Slco2a1 A T 9: 102,945,029 (GRCm39) S135C probably benign Het
Spidr A T 16: 15,715,162 (GRCm39) D801E probably damaging Het
Spta1 T C 1: 174,041,821 (GRCm39) probably null Het
Tmem71 C T 15: 66,404,496 (GRCm39) V264I probably benign Het
Zfp563 G T 17: 33,323,960 (GRCm39) R185L possibly damaging Het
Zfp941 G A 7: 140,392,973 (GRCm39) P129S probably benign Het
Other mutations in Arl8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01552:Arl8a APN 1 135,080,606 (GRCm39) critical splice donor site probably null
R0436:Arl8a UTSW 1 135,074,718 (GRCm39) start codon destroyed probably null 0.45
R1639:Arl8a UTSW 1 135,080,561 (GRCm39) nonsense probably null
R2393:Arl8a UTSW 1 135,080,604 (GRCm39) missense probably damaging 1.00
R2842:Arl8a UTSW 1 135,082,989 (GRCm39) missense probably damaging 0.98
R3873:Arl8a UTSW 1 135,080,610 (GRCm39) splice site probably null
R4764:Arl8a UTSW 1 135,074,837 (GRCm39) missense probably benign 0.04
R6007:Arl8a UTSW 1 135,080,606 (GRCm39) critical splice donor site probably null
R6989:Arl8a UTSW 1 135,074,735 (GRCm39) missense probably benign
R7036:Arl8a UTSW 1 135,082,206 (GRCm39) missense probably benign 0.19
R8758:Arl8a UTSW 1 135,082,189 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AAATGTGAGCTGAGTGGCC -3'
(R):5'- GACAAAGTGGCTCGGTATGG -3'

Sequencing Primer
(F):5'- ATTCCCCAGCTGCCGAAG -3'
(R):5'- ACAAAGTGGCTCGGTATGGACTTC -3'
Posted On 2017-01-03