Incidental Mutation 'IGL01571:AB124611'
ID93310
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 #IGL01571
Quality Score
Status
Chromosome9
Chromosomal Location21526176-21545333 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 21539081 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134056 (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 probably benign
Transcript: ENSMUST00000086361
SMART Domains Protein: ENSMUSP00000083547
Gene: ENSMUSG00000057191

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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cpd T A 11: 76,782,296 Y1341F probably damaging Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Csnk2a1 G A 2: 152,275,406 R278H probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dnajb5 T C 4: 42,956,516 probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
Etfb T C 7: 43,452,959 probably null Het
G6pc2 G A 2: 69,222,967 V122I probably damaging Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Lypla1 T C 1: 4,844,988 I222T probably benign Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Ndufaf7 A G 17: 78,943,852 R229G probably damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Pigh A C 12: 79,085,860 probably benign Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Pygb T C 2: 150,830,473 S831P probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Tekt4 A G 17: 25,476,384 D397G probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Usp17lb A T 7: 104,840,381 N445K possibly damaging Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I 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
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
R8417:AB124611 UTSW 9 21529085 critical splice donor site probably null
Posted On2013-12-09