Incidental Mutation 'IGL02428:AB124611'
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 #IGL02428
Quality Score
Chromosomal Location21526176-21545333 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 21528925 bp
Amino Acid Change Serine to Leucine at position 69 (S69L)
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

signal peptide 1 22 N/A INTRINSIC
low complexity region 33 43 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000086361
AA Change: S69L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000083547
Gene: ENSMUSG00000057191
AA Change: S69L

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
AA Change: S69L

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134056
Gene: ENSMUSG00000057191
AA Change: S69L

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T C 14: 32,388,248 probably benign Het
Abca6 G A 11: 110,178,792 A1566V possibly damaging Het
Ahnak A G 19: 9,014,833 I4494V possibly damaging Het
Ascc3 T A 10: 50,845,695 Y2081* probably null Het
Cdc42bpb T C 12: 111,323,127 T423A probably benign Het
Cdh6 T A 15: 13,064,430 I125F possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd2 T C 4: 128,474,816 L1845P possibly damaging Het
Epha4 A G 1: 77,506,748 V208A possibly damaging Het
Fanci A G 7: 79,444,516 probably benign Het
Fezf2 T C 14: 12,344,494 E231G probably damaging Het
Flnc A G 6: 29,451,485 D1566G probably damaging Het
Gm11565 A G 11: 99,914,985 T68A probably benign Het
Ifng G A 10: 118,445,254 R154H probably damaging Het
Il1r1 G A 1: 40,313,232 E521K possibly damaging Het
Irf3 G T 7: 44,998,739 L9F probably damaging Het
Jade1 T G 3: 41,613,939 I814S probably benign Het
Kcnh1 G A 1: 192,337,543 W365* probably null Het
Kif16b T C 2: 142,672,360 T1209A possibly damaging Het
Mcur1 A T 13: 43,541,727 S324T probably damaging Het
Mgat2 C A 12: 69,184,784 A44E probably benign Het
Mgea5 A T 19: 45,765,501 W645R probably damaging Het
Nox1 A G X: 134,107,834 probably benign Het
Olfr608 A T 7: 103,470,383 I115F probably benign Het
Olfr993 A G 2: 85,414,193 S229P probably benign Het
Pcnt A T 10: 76,429,256 I340N probably damaging Het
Pde11a T C 2: 76,046,845 E760G possibly damaging Het
Per3 C T 4: 151,018,217 probably null Het
Rabep1 G A 11: 70,917,480 A421T probably benign Het
Rint1 C T 5: 23,794,452 Q80* probably null Het
Rnaset2b G A 17: 6,981,169 probably null Het
Sccpdh T C 1: 179,680,505 Y237H probably benign Het
Scn10a T A 9: 119,691,562 T91S probably damaging Het
Spock1 A G 13: 57,444,432 probably benign Het
Stat1 A G 1: 52,142,966 probably benign Het
Svil A G 18: 5,118,203 E2212G probably damaging Het
Taok1 T A 11: 77,549,277 R635W probably benign Het
Vmn1r39 A G 6: 66,804,962 I124T probably benign Het
Vmn2r32 T C 7: 7,474,284 I369M probably benign Het
Other mutations in AB124611
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:AB124611 APN 9 21539894 splice site probably benign
IGL01566:AB124611 APN 9 21535989 missense possibly damaging 0.46
IGL01571:AB124611 APN 9 21539081 splice site probably benign
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
R8417:AB124611 UTSW 9 21529085 critical splice donor site probably null
Posted On2015-04-16