Incidental Mutation 'R3816:Arl8b'
ID 274304
Institutional Source Beutler Lab
Gene Symbol Arl8b
Ensembl Gene ENSMUSG00000030105
Gene Name ADP-ribosylation factor-like 8B
Synonyms 3100002J04Rik, 2610313E07Rik, Arl10c
MMRRC Submission 040881-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.618) question?
Stock # R3816 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 108783099-108825278 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108813697 bp (GRCm38)
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
1810013L24Rik T A 16: 8,830,494 I12N probably damaging Het
Aak1 T C 6: 86,959,042 probably benign Het
Abca2 A G 2: 25,446,071 Y2151C probably damaging Het
Adamts3 T A 5: 89,705,264 H509L probably damaging Het
Agfg2 T C 5: 137,653,774 D441G probably benign Het
As3mt A T 19: 46,707,777 D8V probably benign Het
Ass1 G T 2: 31,510,105 probably benign Het
Cdc42bpa A G 1: 180,144,886 I634V possibly damaging Het
Cflar T C 1: 58,752,423 V298A probably benign Het
Csmd1 C T 8: 16,002,522 A2201T probably damaging Het
Cyp4a12b A T 4: 115,432,470 D178V probably damaging Het
Dlec1 C T 9: 119,124,843 A610V probably damaging Het
Dock1 C T 7: 134,744,286 R186* probably null Het
E130018O15Rik T C 5: 35,382,766 noncoding transcript Het
Gabrg3 G A 7: 57,381,664 Q43* probably null Het
Gipc2 T C 3: 152,165,844 K15R probably benign Het
Gjb2 A G 14: 57,100,073 V226A probably benign Het
Glipr2 G T 4: 43,977,522 A51S possibly damaging Het
Gsdme A C 6: 50,219,411 S340A probably benign Het
H2-M10.2 A T 17: 36,286,362 Y20* probably null Het
Hlcs A G 16: 94,133,088 V242A probably benign Het
Ifi44 T C 3: 151,749,257 I110M possibly damaging Het
Il18r1 T C 1: 40,486,972 probably benign Het
Kcnd3 C T 3: 105,658,766 A421V probably damaging Het
Khk T C 5: 30,926,716 S80P probably damaging Het
Ly9 G T 1: 171,589,085 T537N possibly damaging Het
Muc4 C A 16: 32,754,529 H1468N probably benign Het
Myo1g A G 11: 6,510,926 V706A probably benign Het
Npat T C 9: 53,569,916 S1008P probably damaging Het
Olfr483 A G 7: 108,103,498 Y63C possibly damaging Het
Olfr700 A G 7: 106,805,820 I214T probably damaging Het
Olfr876 C T 9: 37,804,169 S86L probably benign Het
Olfr889 A T 9: 38,116,626 T277S possibly damaging Het
Olfr922 A G 9: 38,816,426 K308E possibly damaging Het
Pcdha2 A G 18: 36,941,695 Y793C probably benign Het
Pcdhb4 A T 18: 37,308,012 D125V probably damaging Het
Pdgfrb A G 18: 61,078,945 D844G probably damaging Het
Phf3 T C 1: 30,805,753 D1375G probably damaging Het
Pigu A T 2: 155,299,143 F276I probably damaging Het
Pomgnt1 T A 4: 116,153,942 probably null Het
Psmd9 C T 5: 123,234,590 probably benign Het
Rac2 T C 15: 78,565,999 D47G possibly damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Sall1 G T 8: 89,032,675 A267E probably benign Het
Secisbp2l C T 2: 125,740,737 G933D possibly damaging Het
Serpina3k A G 12: 104,340,962 E151G probably benign Het
Skint5 A G 4: 113,629,122 probably benign Het
Slc51b A G 9: 65,414,018 probably benign Het
Sorl1 A G 9: 42,064,049 L487P possibly damaging Het
Sspo A T 6: 48,481,103 E3269V possibly damaging Het
Star G A 8: 25,809,877 M82I probably benign Het
Tnfrsf11a C T 1: 105,809,360 T64I probably damaging Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Usp32 A G 11: 84,994,384 probably null Het
Vmn2r18 T C 5: 151,561,683 N782S probably benign Het
Vwa3a A G 7: 120,800,379 T1028A probably benign Het
Xrn2 G A 2: 147,028,200 G270R probably damaging Het
Zbbx G T 3: 75,085,495 Q231K probably benign Het
Other mutations in Arl8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Arl8b APN 6 108821557 utr 3 prime probably benign
IGL03135:Arl8b APN 6 108818545 missense probably benign 0.10
R0486:Arl8b UTSW 6 108815326 missense possibly damaging 0.84
R0544:Arl8b UTSW 6 108783228 start gained probably benign
R1018:Arl8b UTSW 6 108818611 missense probably damaging 0.98
R2248:Arl8b UTSW 6 108783343 missense probably benign 0.00
R2351:Arl8b UTSW 6 108821523 missense possibly damaging 0.84
R3815:Arl8b UTSW 6 108813697 missense probably damaging 1.00
R5538:Arl8b UTSW 6 108783336 missense probably damaging 1.00
R6480:Arl8b UTSW 6 108815049 missense possibly damaging 0.79
R7147:Arl8b UTSW 6 108815015 missense probably damaging 1.00
R8394:Arl8b UTSW 6 108783283 missense possibly damaging 0.94
R8478:Arl8b UTSW 6 108783324 missense possibly damaging 0.60
R8828:Arl8b UTSW 6 108815289 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