Incidental Mutation 'IGL01566:AB124611'
ID90987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AB124611
Ensembl Gene ENSMUSG00000057191
Gene NamecDNA sequence AB124611
SynonymsLOC382062, HIDE1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01566
Quality Score
Status
Chromosome9
Chromosomal Location21526176-21545333 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21535989 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 149 (V149A)
Ref Sequence ENSEMBL: ENSMUSP00000083547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076326] [ENSMUST00000086361] [ENSMUST00000173769]
Predicted Effect probably benign
Transcript: ENSMUST00000076326
SMART Domains Protein: ENSMUSP00000075665
Gene: ENSMUSG00000057191

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 33 43 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000086361
AA Change: V149A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000083547
Gene: ENSMUSG00000057191
AA Change: V149A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:IG 28 121 1e-12 BLAST
transmembrane domain 127 149 N/A INTRINSIC
low complexity region 207 222 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173684
Predicted Effect probably benign
Transcript: ENSMUST00000173769
SMART Domains Protein: ENSMUSP00000134056
Gene: ENSMUSG00000057191

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:IG 28 121 8e-13 BLAST
low complexity region 177 192 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik G A 6: 73,468,690 T292I probably damaging Het
Casc3 T C 11: 98,823,401 probably null Het
Dhdds T C 4: 133,991,337 I162V probably damaging Het
Dsg1a T C 18: 20,336,783 probably benign Het
E030025P04Rik T A 11: 109,143,888 D58V unknown Het
Gcn1l1 A G 5: 115,611,058 N1883S probably damaging Het
Gucy1a2 T C 9: 3,634,661 L235P probably damaging Het
Kprp T C 3: 92,823,964 N593S probably benign Het
Mme T C 3: 63,361,929 probably benign Het
Nr6a1 G T 2: 38,727,889 Q419K probably benign Het
Pcolce A G 5: 137,605,160 probably benign Het
Ppp2cb C A 8: 33,611,763 R110S probably benign Het
Slc35f1 A G 10: 53,089,455 Y322C probably damaging Het
Slc5a3 T C 16: 92,077,577 V174A probably damaging Het
St8sia4 G T 1: 95,653,757 R87S probably benign Het
Tfdp2 A G 9: 96,295,030 E5G probably damaging Het
Tmem161b T C 13: 84,294,762 I267T probably benign Het
Ttn A G 2: 76,952,021 L957P probably damaging Het
Ttn A G 2: 76,782,101 probably benign Het
Ubqln1 A T 13: 58,179,667 probably null Het
Wdfy3 A C 5: 101,896,588 probably benign Het
Other mutations in AB124611
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:AB124611 APN 9 21539894 splice site probably benign
IGL01571:AB124611 APN 9 21539081 splice site probably benign
IGL02428:AB124611 APN 9 21528925 missense possibly damaging 0.66
R6610:AB124611 UTSW 9 21526265 start codon destroyed probably benign 0.01
R7284:AB124611 UTSW 9 21539104 missense probably benign 0.27
R7807:AB124611 UTSW 9 21535980 missense probably benign
R8300:AB124611 UTSW 9 21526265 start codon destroyed probably null 0.01
Posted On2013-12-09