Incidental Mutation 'IGL01552:Arl8a'
ID90618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl8a
Ensembl Gene ENSMUSG00000026426
Gene NameADP-ribosylation factor-like 8A
Synonyms1110033P22Rik, Arl10b
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.656) question?
Stock #IGL01552
Quality Score
Status
Chromosome1
Chromosomal Location135146824-135156269 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 135152868 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000027684]
Predicted Effect probably null
Transcript: ENSMUST00000027684
SMART Domains Protein: ENSMUSP00000027684
Gene: ENSMUSG00000026426

DomainStartEndE-ValueType
ARF 1 185 2.25e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123344
Predicted Effect probably null
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 probably null
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: ENSMUST00000141177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157096
Meta Mutation Damage Score 0.9591 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik A G 3: 108,481,312 W252R possibly damaging Het
Bivm A G 1: 44,126,773 N128D probably benign Het
Chil3 C A 3: 106,148,848 G330V probably damaging Het
Dscaml1 A G 9: 45,447,908 H155R probably damaging Het
Etl4 T A 2: 20,778,189 V687D probably damaging Het
Fbxw10 A T 11: 62,857,684 probably null Het
Gfpt2 G T 11: 49,805,005 E21* probably null Het
Gm10197 C T 19: 53,371,691 V26I possibly damaging Het
Gm4788 A G 1: 139,739,302 Y412H probably damaging Het
Gm6614 T C 6: 141,987,706 K451R possibly damaging Het
Golim4 T C 3: 75,956,195 E35G probably damaging Het
Igdcc4 A G 9: 65,122,502 probably benign Het
Ino80d A G 1: 63,057,977 probably benign Het
Ipo13 A G 4: 117,900,964 M734T probably benign Het
Klk1b27 C T 7: 44,054,615 L61F probably damaging Het
Lamtor5 T C 3: 107,279,008 V31A probably benign Het
Lrp1 A T 10: 127,588,510 L769* probably null Het
Nipsnap1 A T 11: 4,889,124 S135C probably damaging Het
Olfr1277 C A 2: 111,269,912 G152C probably damaging Het
Pparg A T 6: 115,490,122 H452L probably benign Het
Rab34 C T 11: 78,191,438 A202V probably damaging Het
Ryr3 T A 2: 112,825,883 T1923S possibly damaging Het
Sall4 A G 2: 168,756,123 S266P probably damaging Het
Sh2d4b T C 14: 40,860,648 Q195R probably benign Het
Sik2 C A 9: 50,917,522 probably benign Het
Slc25a36 A G 9: 97,079,233 V111A probably benign Het
Sptbn5 A T 2: 120,054,422 probably benign Het
Tac2 G A 10: 127,726,101 E25K possibly damaging Het
Tnc A G 4: 63,970,408 V1807A probably damaging Het
Top3b T C 16: 16,887,823 probably benign Het
Zfp827 A G 8: 79,076,191 E464G probably damaging Het
Other mutations in Arl8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0436:Arl8a UTSW 1 135146980 start codon destroyed probably null 0.45
R1639:Arl8a UTSW 1 135152823 nonsense probably null
R2393:Arl8a UTSW 1 135152866 missense probably damaging 1.00
R2842:Arl8a UTSW 1 135155251 missense probably damaging 0.98
R3873:Arl8a UTSW 1 135152872 splice site probably null
R4764:Arl8a UTSW 1 135147099 missense probably benign 0.04
R5736:Arl8a UTSW 1 135154720 missense probably benign
R6007:Arl8a UTSW 1 135152868 critical splice donor site probably null
R6989:Arl8a UTSW 1 135146997 missense probably benign
R7036:Arl8a UTSW 1 135154468 missense probably benign 0.19
Posted On2013-12-09