Incidental Mutation 'R3816:Arl8b'
ID 274304
Institutional Source Beutler Lab
Gene Symbol Arl8b
Ensembl Gene ENSMUSG00000030105
Gene Name ADP-ribosylation factor-like 8B
Synonyms 2610313E07Rik, Arl10c, 3100002J04Rik
MMRRC Submission 040881-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.522) question?
Stock # R3816 (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 108790658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 65 (V65D)
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: V65D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032196
Gene: ENSMUSG00000030105
AA Change: V65D

DomainStartEndE-ValueType
ARF 1 185 4.46e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204483
AA Change: V17D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145035
Gene: ENSMUSG00000030105
AA Change: V17D

DomainStartEndE-ValueType
small_GTPase 2 136 3.8e-7 SMART
Meta Mutation Damage Score 0.9569 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 100% (62/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Abca2 A G 2: 25,336,083 (GRCm39) Y2151C probably damaging Het
Adamts3 T A 5: 89,853,123 (GRCm39) H509L probably damaging Het
Agfg2 T C 5: 137,652,036 (GRCm39) D441G probably benign Het
As3mt A T 19: 46,696,216 (GRCm39) D8V probably benign Het
Ass1 G T 2: 31,400,117 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,972,451 (GRCm39) I634V possibly damaging Het
Cflar T C 1: 58,791,582 (GRCm39) V298A probably benign Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Dlec1 C T 9: 118,953,911 (GRCm39) A610V probably damaging Het
Dock1 C T 7: 134,346,015 (GRCm39) R186* probably null Het
E130018O15Rik T C 5: 35,540,110 (GRCm39) noncoding transcript Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gipc2 T C 3: 151,871,481 (GRCm39) K15R probably benign Het
Gjb2 A G 14: 57,337,530 (GRCm39) V226A probably benign Het
Glipr2 G T 4: 43,977,522 (GRCm39) A51S possibly damaging Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
H2-M10.2 A T 17: 36,597,254 (GRCm39) Y20* probably null Het
Hapstr1 T A 16: 8,648,358 (GRCm39) I12N probably damaging Het
Hlcs A G 16: 93,933,947 (GRCm39) V242A probably benign Het
Ifi44 T C 3: 151,454,894 (GRCm39) I110M possibly damaging Het
Il18r1 T C 1: 40,526,132 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Khk T C 5: 31,084,060 (GRCm39) S80P probably damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo1g A G 11: 6,460,926 (GRCm39) V706A probably benign Het
Npat T C 9: 53,481,216 (GRCm39) S1008P probably damaging Het
Or2ag18 A G 7: 106,405,027 (GRCm39) I214T probably damaging Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8b12c C T 9: 37,715,465 (GRCm39) S86L probably benign Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Pcdha2 A G 18: 37,074,748 (GRCm39) Y793C probably benign Het
Pcdhb4 A T 18: 37,441,065 (GRCm39) D125V probably damaging Het
Pdgfrb A G 18: 61,212,017 (GRCm39) D844G probably damaging Het
Phf3 T C 1: 30,844,834 (GRCm39) D1375G probably damaging Het
Pigu A T 2: 155,141,063 (GRCm39) F276I probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rac2 T C 15: 78,450,199 (GRCm39) D47G possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall1 G T 8: 89,759,303 (GRCm39) A267E probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpina3k A G 12: 104,307,221 (GRCm39) E151G probably benign Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Slc51b A G 9: 65,321,300 (GRCm39) probably benign Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Star G A 8: 26,299,905 (GRCm39) M82I probably benign Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Usp32 A G 11: 84,885,210 (GRCm39) probably null Het
Vmn2r18 T C 5: 151,485,148 (GRCm39) N782S probably benign Het
Vwa3a A G 7: 120,399,602 (GRCm39) T1028A probably benign Het
Xrn2 G A 2: 146,870,120 (GRCm39) G270R probably damaging Het
Zbbx G T 3: 74,992,802 (GRCm39) Q231K probably benign 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
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'- CCCAACTCCAAGTTACCCTT -3'
(R):5'- TGCCTTCCATTACCTGGTAATTA -3'

Sequencing Primer
(F):5'- CCAAGTTACCCTTTTAAAAATCAG -3'
(R):5'- GGACAATACATAACACACATGCATG -3'
Posted On 2015-04-02