Incidental Mutation 'IGL01301:1600012H06Rik'
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ID73227
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1600012H06Rik
Ensembl Gene ENSMUSG00000050088
Gene NameRIKEN cDNA 1600012H06 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL01301
Quality Score
Status
Chromosome17
Chromosomal Location14943184-14959570 bp(+) (GRCm38)
Type of Mutationunclassified (1090 bp from exon)
DNA Base Change (assembly) C to T at 14943919 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000024657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024657] [ENSMUST00000052691] [ENSMUST00000164837] [ENSMUST00000168938] [ENSMUST00000174004] [ENSMUST00000228330]
Predicted Effect probably null
Transcript: ENSMUST00000024657
SMART Domains Protein: ENSMUSP00000024657
Gene: ENSMUSG00000023883

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
low complexity region 200 207 N/A INTRINSIC
low complexity region 281 310 N/A INTRINSIC
PHD 378 433 1.22e-8 SMART
PHD 434 478 2.44e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000052691
AA Change: H103Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093344
Gene: ENSMUSG00000050088
AA Change: H103Y

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164837
AA Change: H103Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125970
Gene: ENSMUSG00000050088
AA Change: H103Y

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168938
SMART Domains Protein: ENSMUSP00000125917
Gene: ENSMUSG00000023883

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
low complexity region 200 207 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172650
Predicted Effect probably damaging
Transcript: ENSMUST00000174004
AA Change: H103Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133628
Gene: ENSMUSG00000050088
AA Change: H103Y

DomainStartEndE-ValueType
Pfam:UPF0669 1 185 7e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228221
Predicted Effect probably benign
Transcript: ENSMUST00000228330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228869
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved, N-glycosylated protein that likely functions in the cellular response to endoplasmic reticulum stress. This protein is able to induce apoptosis in vitro in CD4+ T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,246,498 I2238L probably benign Het
Aldh1l2 T C 10: 83,522,846 Y95C probably damaging Het
Asxl2 A G 12: 3,501,425 T1056A probably damaging Het
B4galnt1 A G 10: 127,169,779 T250A possibly damaging Het
Cela3b A T 4: 137,423,843 probably null Het
Chst3 T C 10: 60,185,832 T398A probably damaging Het
Cngb3 A G 4: 19,425,625 T478A probably damaging Het
Cyp4a10 T C 4: 115,518,455 L45P probably damaging Het
Defb21 A G 2: 152,574,751 E49G possibly damaging Het
Dnajc1 T C 2: 18,308,834 T159A probably damaging Het
Dnmbp A G 19: 43,902,354 S325P probably benign Het
Fam91a1 T C 15: 58,442,871 F534L probably damaging Het
Fermt2 T C 14: 45,464,863 E488G probably damaging Het
Filip1 T C 9: 79,819,180 D719G possibly damaging Het
Gad1-ps A G 10: 99,445,151 noncoding transcript Het
Glra3 C A 8: 55,940,962 A36E probably benign Het
Gm9884 T A 1: 25,830,648 Het
Hectd2 T C 19: 36,569,370 probably benign Het
Hnrnpm C T 17: 33,669,168 probably null Het
Lrrk2 T A 15: 91,767,339 Y1733N probably damaging Het
Mindy1 T C 3: 95,288,390 L148P probably damaging Het
Mkrn2 C A 6: 115,611,789 Y164* probably null Het
Msra T C 14: 64,210,435 Y135C probably damaging Het
Ndst3 C T 3: 123,548,916 A749T probably damaging Het
Ngdn G T 14: 55,017,114 A41S probably benign Het
Nlrp12 A T 7: 3,240,092 S597T probably damaging Het
Olfr1451 A T 19: 12,999,417 I144F probably damaging Het
Pabpc6 A G 17: 9,667,970 S551P probably benign Het
Plekhg5 C T 4: 152,112,553 A752V probably benign Het
Prpf4b T C 13: 34,884,291 S368P probably benign Het
Pus7 A G 5: 23,746,424 probably null Het
Rad23b T C 4: 55,366,774 probably benign Het
Rgs13 T C 1: 144,171,414 probably benign Het
Sfpq T C 4: 127,026,760 probably benign Het
Slc9a9 T A 9: 95,055,459 S455T probably benign Het
Slco1a1 A G 6: 141,932,530 probably benign Het
Tmem26 A T 10: 68,778,606 N284Y probably damaging Het
Tmem87a T C 2: 120,380,769 I232V probably benign Het
Trpm2 A G 10: 77,923,984 L1106P probably damaging Het
Vmn1r18 T C 6: 57,389,667 probably benign Het
Zfp213 G T 17: 23,561,417 A43D probably benign Het
Zfp365 A G 10: 67,909,354 V198A probably damaging Het
Zfp395 T A 14: 65,394,751 probably null Het
Zfp618 G A 4: 63,132,826 V615M probably damaging Het
Other mutations in 1600012H06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:1600012H06Rik APN 17 14943863 missense probably damaging 1.00
IGL01845:1600012H06Rik APN 17 14944118 missense probably damaging 1.00
ANU18:1600012H06Rik UTSW 17 14943919 unclassified probably null
R0556:1600012H06Rik UTSW 17 14943951 nonsense probably null
R1983:1600012H06Rik UTSW 17 14944010 missense probably damaging 0.99
R4841:1600012H06Rik UTSW 17 14943739 missense possibly damaging 0.92
R4842:1600012H06Rik UTSW 17 14943739 missense possibly damaging 0.92
Posted On2013-10-07