Incidental Mutation 'R5538:Arl8b'
ID 434921
Institutional Source Beutler Lab
Gene Symbol Arl8b
Ensembl Gene ENSMUSG00000030105
Gene Name ADP-ribosylation factor-like 8B
Synonyms 2610313E07Rik, Arl10c, 3100002J04Rik
MMRRC Submission 043096-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.522) question?
Stock # R5538 (G1)
Quality Score 177
Status Validated
Chromosome 6
Chromosomal Location 108760020-108800684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108760297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 28 (L28M)
Ref Sequence ENSEMBL: ENSMUSP00000032196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032196]
AlphaFold Q9CQW2
Predicted Effect probably damaging
Transcript: ENSMUST00000032196
AA Change: L28M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032196
Gene: ENSMUSG00000030105
AA Change: L28M

DomainStartEndE-ValueType
ARF 1 185 4.46e-35 SMART
Meta Mutation Damage Score 0.7924 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 94% (73/78)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C A 13: 81,581,808 (GRCm39) R4745S probably benign Het
Ank3 A G 10: 69,823,257 (GRCm39) E642G probably damaging Het
Arhgap11a G T 2: 113,667,875 (GRCm39) D375E probably benign Het
Bbs2 G A 8: 94,816,391 (GRCm39) T157M probably damaging Het
C2cd3 T A 7: 100,104,700 (GRCm39) probably null Het
C6 T A 15: 4,844,311 (GRCm39) I911N possibly damaging Het
Cc2d2a T C 5: 43,852,518 (GRCm39) I365T possibly damaging Het
Cd46 T G 1: 194,750,478 (GRCm39) probably null Het
Ceacam3 A T 7: 16,892,346 (GRCm39) D363V probably damaging Het
Cep63 A T 9: 102,465,992 (GRCm39) L678* probably null Het
Clasrp A C 7: 19,318,707 (GRCm39) probably benign Het
Clk2 T A 3: 89,082,962 (GRCm39) Y412N probably damaging Het
Col24a1 C T 3: 144,998,882 (GRCm39) A5V probably damaging Het
Cox16 T C 12: 81,531,703 (GRCm39) N13D possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dhx32 A T 7: 133,324,946 (GRCm39) M437K probably benign Het
Dnm2 T C 9: 21,416,923 (GRCm39) F819L probably benign Het
Dpysl4 A G 7: 138,671,906 (GRCm39) T85A probably benign Het
Dspp A T 5: 104,323,096 (GRCm39) K80* probably null Het
Dync2h1 T C 9: 7,168,630 (GRCm39) probably benign Het
Ern1 A G 11: 106,312,727 (GRCm39) V218A possibly damaging Het
Fbn2 G A 18: 58,204,973 (GRCm39) R1157C probably benign Het
Fez1 T A 9: 36,780,172 (GRCm39) I323N probably damaging Het
Fmo9 T A 1: 166,501,198 (GRCm39) T199S probably benign Het
Fry T A 5: 150,419,313 (GRCm39) L915Q probably damaging Het
Gatd1 A G 7: 140,986,758 (GRCm39) probably benign Het
Gm10719 T C 9: 3,018,962 (GRCm39) L69S probably benign Het
Gnpda2 A T 5: 69,735,394 (GRCm39) H230Q probably damaging Het
Gramd1c T A 16: 43,802,455 (GRCm39) N652I probably damaging Het
H2-T13 T A 17: 36,392,178 (GRCm39) H178L probably benign Het
Hells T A 19: 38,942,096 (GRCm39) F462Y probably benign Het
Htr7 A G 19: 35,947,235 (GRCm39) F260L probably benign Het
Itsn1 C A 16: 91,580,990 (GRCm39) A23D probably damaging Het
Jak3 A G 8: 72,131,417 (GRCm39) D94G probably benign Het
Kctd16 T A 18: 40,390,319 (GRCm39) Y97* probably null Het
Kif20b A T 19: 34,930,364 (GRCm39) K25* probably null Het
Klf2 T C 8: 73,073,316 (GRCm39) L40P probably damaging Het
Kmt2a A G 9: 44,731,639 (GRCm39) probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lonrf1 T A 8: 36,690,178 (GRCm39) probably null Het
Lrp1b A T 2: 40,587,486 (GRCm39) I154K unknown Het
Mybpc1 T A 10: 88,381,891 (GRCm39) I600L possibly damaging Het
Npnt T C 3: 132,610,724 (GRCm39) N285S probably damaging Het
Or4c12b T A 2: 89,646,964 (GRCm39) F92Y probably damaging Het
Or51h5 A G 7: 102,577,728 (GRCm39) T298A probably damaging Het
Or6c69 T A 10: 129,747,871 (GRCm39) Y92F probably benign Het
Or6n1 T C 1: 173,917,544 (GRCm39) *313R probably null Het
Pcnx1 T C 12: 81,907,183 (GRCm39) V13A probably damaging Het
Phkb G A 8: 86,648,756 (GRCm39) V191I possibly damaging Het
Pnpla6 A G 8: 3,581,508 (GRCm39) M594V probably benign Het
Potefam3e A C 8: 19,799,430 (GRCm39) probably null Het
Prkdc A G 16: 15,469,333 (GRCm39) E146G probably damaging Het
Ror1 T C 4: 100,298,208 (GRCm39) M527T probably benign Het
Scnm1 A G 3: 95,037,066 (GRCm39) probably benign Het
Skint11 A T 4: 114,088,959 (GRCm39) N251I probably damaging Het
Slc19a3 T A 1: 83,000,282 (GRCm39) N245I possibly damaging Het
Slc1a3 A T 15: 8,675,188 (GRCm39) D272E probably damaging Het
Smok2b T A 17: 13,454,440 (GRCm39) V200D possibly damaging Het
Sspo T C 6: 48,429,112 (GRCm39) Y417H probably damaging Het
Stk11ip C A 1: 75,504,979 (GRCm39) S388R probably damaging Het
Svep1 T C 4: 58,049,282 (GRCm39) probably null Het
Sytl2 A G 7: 90,038,114 (GRCm39) I525V probably benign Het
Tie1 T C 4: 118,343,390 (GRCm39) N158D probably benign Het
Tle2 T C 10: 81,416,418 (GRCm39) L180P probably damaging Het
Txlnb T C 10: 17,714,657 (GRCm39) L363P probably damaging Het
Upk3b C G 5: 136,072,890 (GRCm39) A258G probably benign Het
Usp32 A T 11: 84,908,612 (GRCm39) D1031E possibly damaging Het
Vmn2r116 C T 17: 23,620,041 (GRCm39) L592F probably benign Het
Zfp607b A G 7: 27,402,294 (GRCm39) H250R 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
R1018:Arl8b UTSW 6 108,795,572 (GRCm39) missense probably damaging 0.98
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
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'- TAGGGCGAGTCATATGACCC -3'
(R):5'- GCAACGTGGAATTGACCCTC -3'

Sequencing Primer
(F):5'- GAGTCATATGACCCGCTGG -3'
(R):5'- GTGGAATTGACCCTCCTGCTG -3'
Posted On 2016-10-24