Incidental Mutation 'IGL01528:AB124611'
ID89658
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 #IGL01528
Quality Score
Status
Chromosome9
Chromosomal Location21526176-21545333 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 21539894 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc45 A G 16: 18,811,561 F2S probably damaging Het
Cdon A G 9: 35,470,107 R598G possibly damaging Het
Dusp22 C T 13: 30,705,628 T64I probably benign Het
Gfer T A 17: 24,695,929 T47S probably benign Het
Gfra2 T C 14: 70,966,298 S296P possibly damaging Het
Gjb2 G A 14: 57,100,668 L28F probably damaging Het
Gm17782 A G 17: 36,161,790 probably benign Het
Gm2832 T C 14: 41,281,713 V167A unknown Het
Gpr155 A G 2: 73,362,423 probably null Het
Gpr45 A G 1: 43,033,223 H342R probably benign Het
Gsdmd A T 15: 75,863,505 T33S possibly damaging Het
Hal T A 10: 93,497,593 L341Q probably damaging Het
Igfbp7 T G 5: 77,351,332 D273A probably damaging Het
Kdm2a T C 19: 4,343,055 D424G probably benign Het
Kif13a C T 13: 46,864,837 probably benign Het
Krt35 A T 11: 100,094,594 L207Q probably damaging Het
Lrp1b A T 2: 40,919,182 D2572E probably damaging Het
Lrp2 A G 2: 69,492,460 V1848A probably damaging Het
Myo9a T C 9: 59,779,674 Y21H probably damaging Het
Ncan G T 8: 70,110,081 A509E probably benign Het
Olfr450 T C 6: 42,818,274 S268P probably damaging Het
Pde11a G A 2: 76,194,956 probably benign Het
Phf19 G T 2: 34,897,107 D448E probably damaging Het
Ptprj A T 2: 90,452,144 V799D probably damaging Het
Rpgrip1 T A 14: 52,112,177 Y7* probably null Het
Sema3c A G 5: 17,714,415 H483R probably benign Het
Slc4a11 A G 2: 130,685,408 probably benign Het
St3gal1 C A 15: 67,112,617 R103L probably benign Het
Tet2 A T 3: 133,480,298 V1126E possibly damaging Het
Tmem117 A T 15: 95,094,664 I402L probably benign Het
Tmem2 T C 19: 21,835,545 V1038A possibly damaging Het
Ttc28 T A 5: 111,101,960 probably benign Het
Ttn A T 2: 76,871,838 probably benign Het
Vmn1r7 T A 6: 57,024,547 M243L probably benign Het
Wnt1 G T 15: 98,791,833 W167L probably damaging Het
Zfp553 G T 7: 127,236,215 S314I probably damaging Het
Zranb2 T C 3: 157,544,965 probably benign Het
Other mutations in AB124611
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01566:AB124611 APN 9 21535989 missense possibly damaging 0.46
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
R8417:AB124611 UTSW 9 21529085 critical splice donor site probably null
R8550:AB124611 UTSW 9 21540586 missense probably damaging 1.00
Posted On2013-12-03