Incidental Mutation 'R0436:Arl8a'
ID 38985
Institutional Source Beutler Lab
Gene Symbol Arl8a
Ensembl Gene ENSMUSG00000026426
Gene Name ADP-ribosylation factor-like 8A
Synonyms 1110033P22Rik, Arl10b
MMRRC Submission 038637-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R0436 (G1)
Quality Score 127
Status Validated
Chromosome 1
Chromosomal Location 135074572-135084007 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) G to A at 135074718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000027684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027684] [ENSMUST00000049449] [ENSMUST00000167080] [ENSMUST00000187985]
AlphaFold Q8VEH3
Predicted Effect probably null
Transcript: ENSMUST00000027684
AA Change: M1I

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027684
Gene: ENSMUSG00000026426
AA Change: M1I

DomainStartEndE-ValueType
ARF 1 185 2.25e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049449
SMART Domains Protein: ENSMUSP00000045803
Gene: ENSMUSG00000031506

DomainStartEndE-ValueType
low complexity region 25 34 N/A INTRINSIC
PTPc 96 351 2.3e-117 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125774
SMART Domains Protein: ENSMUSP00000121545
Gene: ENSMUSG00000026426

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: ENSMUST00000157096
Predicted Effect probably benign
Transcript: ENSMUST00000167080
SMART Domains Protein: ENSMUSP00000129474
Gene: ENSMUSG00000031506

DomainStartEndE-ValueType
low complexity region 25 34 N/A INTRINSIC
PTPc 96 351 2.3e-117 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187985
SMART Domains Protein: ENSMUSP00000141133
Gene: ENSMUSG00000031506

DomainStartEndE-ValueType
low complexity region 25 34 N/A INTRINSIC
PTPc 96 351 2.3e-117 SMART
Meta Mutation Damage Score 0.8646 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,461,682 (GRCm39) probably benign Het
Abcb10 C T 8: 124,697,740 (GRCm39) G195S probably benign Het
Adrb2 A G 18: 62,312,624 (GRCm39) V67A possibly damaging Het
Alx4 A T 2: 93,498,702 (GRCm39) K145* probably null Het
Btbd16 G A 7: 130,387,783 (GRCm39) S134N probably benign Het
Ccdc136 T A 6: 29,414,933 (GRCm39) L474Q probably damaging Het
Cebpz A G 17: 79,243,079 (GRCm39) Y192H probably benign Het
Cep95 A G 11: 106,709,511 (GRCm39) Q109R probably null Het
Cfap54 G T 10: 92,874,837 (GRCm39) Q520K possibly damaging Het
Cog2 C T 8: 125,275,253 (GRCm39) probably benign Het
Cul1 A G 6: 47,500,707 (GRCm39) N702S probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dmxl2 T C 9: 54,291,034 (GRCm39) D2472G probably damaging Het
Drgx T C 14: 32,330,040 (GRCm39) F81S probably damaging Het
Ect2 A G 3: 27,204,244 (GRCm39) F22L probably benign Het
Ehd4 A T 2: 119,932,822 (GRCm39) D201E probably damaging Het
Eif4ebp3 A G 18: 36,797,354 (GRCm39) probably null Het
Exd2 T C 12: 80,537,544 (GRCm39) probably benign Het
Gtf2a1 A C 12: 91,535,047 (GRCm39) probably null Het
H2-DMb1 A G 17: 34,378,630 (GRCm39) Y256C probably damaging Het
Haus6 T C 4: 86,504,044 (GRCm39) R527G probably benign Het
Helb C T 10: 119,930,117 (GRCm39) probably benign Het
Hhatl C T 9: 121,617,828 (GRCm39) A254T probably benign Het
Hk1 A T 10: 62,135,054 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,295,624 (GRCm39) K2611R probably damaging Het
Hrc A G 7: 44,985,557 (GRCm39) H236R possibly damaging Het
Hunk T A 16: 90,261,042 (GRCm39) Y178N probably damaging Het
Iftap T C 2: 101,440,864 (GRCm39) probably benign Het
Jakmip2 G A 18: 43,691,234 (GRCm39) Q616* probably null Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Msantd4 C T 9: 4,385,180 (GRCm39) R302C probably damaging Het
Nae1 T C 8: 105,249,868 (GRCm39) probably benign Het
Nek4 C T 14: 30,692,429 (GRCm39) L293F probably damaging Het
Odf2l C T 3: 144,831,877 (GRCm39) T44I possibly damaging Het
Or52s19 A G 7: 103,007,948 (GRCm39) V151A possibly damaging Het
Otog G A 7: 45,915,360 (GRCm39) probably benign Het
Ppp1r21 C T 17: 88,873,117 (GRCm39) T425I possibly damaging Het
Prrc2b A G 2: 32,120,672 (GRCm39) E2204G probably damaging Het
Prrc2c A C 1: 162,532,883 (GRCm39) probably benign Het
Ptgs2 T C 1: 149,980,028 (GRCm39) probably benign Het
Slc12a8 T A 16: 33,371,455 (GRCm39) V197E probably damaging Het
Syne3 A G 12: 104,913,183 (GRCm39) W593R possibly damaging Het
Tmem63a A T 1: 180,800,298 (GRCm39) T696S probably benign Het
Tnks2 A G 19: 36,826,758 (GRCm39) D165G possibly damaging Het
Trim43a T C 9: 88,470,240 (GRCm39) W349R probably damaging Het
Unc45b T C 11: 82,820,393 (GRCm39) probably benign Het
Vmn1r4 T A 6: 56,933,947 (GRCm39) N150K probably damaging Het
Wdfy4 C A 14: 32,805,769 (GRCm39) probably benign Het
Wdr77 T A 3: 105,867,342 (GRCm39) D63E probably damaging Het
Zan T C 5: 137,463,164 (GRCm39) T672A unknown Het
Zdhhc17 A T 10: 110,817,851 (GRCm39) probably null Het
Other mutations in Arl8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01552:Arl8a APN 1 135,080,606 (GRCm39) critical splice donor site probably null
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
R5736:Arl8a UTSW 1 135,082,458 (GRCm39) missense probably benign
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'- TTCAAGCCAGAAAGCGGTGCAG -3'
(R):5'- AAGAACCGTGCTAGGCCCTAAGTG -3'

Sequencing Primer
(F):5'- AATTACAGCTTTCTCCGCAAG -3'
(R):5'- CCCTAAGTGCCCGGAGC -3'
Posted On 2013-05-23