Incidental Mutation 'R1018:Arl8b'
ID 96584
Institutional Source Beutler Lab
Gene Symbol Arl8b
Ensembl Gene ENSMUSG00000030105
Gene Name ADP-ribosylation factor-like 8B
Synonyms 2610313E07Rik, Arl10c, 3100002J04Rik
MMRRC Submission 039122-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R1018 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 108760020-108800684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108795572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 170 (I170K)
Ref Sequence ENSEMBL: ENSMUSP00000032196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032196] [ENSMUST00000204483]
AlphaFold Q9CQW2
Predicted Effect probably damaging
Transcript: ENSMUST00000032196
AA Change: I170K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032196
Gene: ENSMUSG00000030105
AA Change: I170K

DomainStartEndE-ValueType
ARF 1 185 4.46e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204483
AA Change: I122K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145035
Gene: ENSMUSG00000030105
AA Change: I122K

DomainStartEndE-ValueType
small_GTPase 2 136 3.8e-7 SMART
Meta Mutation Damage Score 0.9635 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.7%
Validation Efficiency 100% (50/50)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display perinatal lethality with impaired visceral yolk sac function and reduced embryo size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,837,325 (GRCm39) C403F probably damaging Het
Adam20 C T 8: 41,249,146 (GRCm39) Q419* probably null Het
Ankrd36 C T 11: 5,596,876 (GRCm39) probably benign Het
Atp5pb A T 3: 105,861,488 (GRCm39) V78E possibly damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cgnl1 A G 9: 71,633,340 (GRCm39) Y4H probably damaging Het
Cnn2 T C 10: 79,829,397 (GRCm39) C176R probably damaging Het
Dst A G 1: 34,233,174 (GRCm39) D3392G probably damaging Het
Eed T C 7: 89,617,019 (GRCm39) probably benign Het
Efl1 T A 7: 82,412,221 (GRCm39) V870E possibly damaging Het
Epx T C 11: 87,760,129 (GRCm39) N495S probably benign Het
Fbxw20 T A 9: 109,050,404 (GRCm39) Y407F probably benign Het
Gbp9 T A 5: 105,228,126 (GRCm39) Q552L probably benign Het
Hspa13 C A 16: 75,558,164 (GRCm39) V134L possibly damaging Het
Il16 T C 7: 83,323,746 (GRCm39) N268S probably damaging Het
Kif14 G A 1: 136,423,579 (GRCm39) probably benign Het
Lrig1 G A 6: 94,599,583 (GRCm39) probably benign Het
Myo7a T A 7: 97,756,212 (GRCm39) D29V probably damaging Het
Nsd2 A G 5: 34,000,585 (GRCm39) K34R probably damaging Het
Or4a15 C A 2: 89,193,523 (GRCm39) L83F possibly damaging Het
P3h1 C A 4: 119,095,104 (GRCm39) T287K probably damaging Het
Pkhd1 A T 1: 20,271,483 (GRCm39) H3023Q possibly damaging Het
Plxna1 A G 6: 89,319,942 (GRCm39) L535P probably damaging Het
Prom1 A T 5: 44,187,056 (GRCm39) S400R probably benign Het
Psap T G 10: 60,136,590 (GRCm39) L523R probably damaging Het
Psme4 C T 11: 30,754,310 (GRCm39) T189I probably damaging Het
Ptpn12 A T 5: 21,234,867 (GRCm39) S39T possibly damaging Het
Qtrt2 T A 16: 43,698,363 (GRCm39) H98L possibly damaging Het
Rad54l2 C A 9: 106,589,589 (GRCm39) C601F probably benign Het
Saxo4 A T 19: 10,456,824 (GRCm39) probably benign Het
Sfswap A G 5: 129,631,640 (GRCm39) K756R possibly damaging Het
Slc24a5 T C 2: 124,910,827 (GRCm39) V86A probably damaging Het
Srrm2 T C 17: 24,041,514 (GRCm39) S2575P probably damaging Het
Stam T C 2: 14,122,185 (GRCm39) probably benign Het
Tbx6 T A 7: 126,382,364 (GRCm39) probably benign Het
Tmem131 A C 1: 36,833,900 (GRCm39) F1727V probably damaging Het
Tpr T A 1: 150,317,934 (GRCm39) H2147Q possibly damaging Het
Trio T A 15: 27,871,257 (GRCm39) H620L probably damaging Het
Uba5 T C 9: 103,927,102 (GRCm39) T292A probably benign Het
Unc5a T A 13: 55,138,765 (GRCm39) V48E possibly damaging Het
Upf1 G T 8: 70,791,556 (GRCm39) H514Q possibly damaging Het
Usp9y A G Y: 1,341,414 (GRCm39) probably benign Het
Vmn2r6 T A 3: 64,464,261 (GRCm39) D191V probably benign Het
Wapl T C 14: 34,413,863 (GRCm39) Y242H possibly damaging Het
Zfp341 A T 2: 154,487,972 (GRCm39) N812Y probably damaging Het
Zfp358 C A 8: 3,546,843 (GRCm39) S475* probably null Het
Zfp957 C A 14: 79,450,182 (GRCm39) C539F probably damaging Het
Other mutations in Arl8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Arl8b APN 6 108,798,518 (GRCm39) utr 3 prime probably benign
IGL03135:Arl8b APN 6 108,795,506 (GRCm39) missense probably benign 0.10
R0486:Arl8b UTSW 6 108,792,287 (GRCm39) missense possibly damaging 0.84
R0544:Arl8b UTSW 6 108,760,189 (GRCm39) start gained probably benign
R2248:Arl8b UTSW 6 108,760,304 (GRCm39) missense probably benign 0.00
R2351:Arl8b UTSW 6 108,798,484 (GRCm39) missense possibly damaging 0.84
R3815:Arl8b UTSW 6 108,790,658 (GRCm39) missense probably damaging 1.00
R3816:Arl8b UTSW 6 108,790,658 (GRCm39) missense probably damaging 1.00
R5538:Arl8b UTSW 6 108,760,297 (GRCm39) missense probably damaging 1.00
R6480:Arl8b UTSW 6 108,792,010 (GRCm39) missense possibly damaging 0.79
R7147:Arl8b UTSW 6 108,791,976 (GRCm39) missense probably damaging 1.00
R8394:Arl8b UTSW 6 108,760,244 (GRCm39) missense possibly damaging 0.94
R8478:Arl8b UTSW 6 108,760,285 (GRCm39) missense possibly damaging 0.60
R8828:Arl8b UTSW 6 108,792,250 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAAATGCCTTGGATGAGAAACAGC -3'
(R):5'- TGCTCACTCTCTGCTTTAGGGACTG -3'

Sequencing Primer
(F):5'- AGACTGCCATCTGTTTTGTAAGC -3'
(R):5'- ctaccccttctagttatgagaacc -3'
Posted On 2014-01-05