Incidental Mutation 'IGL01606:1600012H06Rik'
ID 93430
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1600012H06Rik
Ensembl Gene ENSMUSG00000050088
Gene Name RIKEN cDNA 1600012H06 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # IGL01606
Quality Score
Status
Chromosome 17
Chromosomal Location 15163446-15166201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15164125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 84 (D84G)
Ref Sequence ENSEMBL: ENSMUSP00000133628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024657] [ENSMUST00000052691] [ENSMUST00000164837] [ENSMUST00000168938] [ENSMUST00000174004] [ENSMUST00000228330]
AlphaFold no structure available at present
Predicted Effect probably benign
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: D84G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093344
Gene: ENSMUSG00000050088
AA Change: D84G

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: D84G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125970
Gene: ENSMUSG00000050088
AA Change: D84G

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 probably damaging
Transcript: ENSMUST00000174004
AA Change: D84G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133628
Gene: ENSMUSG00000050088
AA Change: D84G

DomainStartEndE-ValueType
Pfam:UPF0669 1 185 7e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228221
Predicted Effect probably benign
Transcript: ENSMUST00000228330
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 A T 10: 80,443,172 (GRCm39) I337F probably damaging Het
Carmil3 T A 14: 55,731,306 (GRCm39) N128K possibly damaging Het
Ceacam2 T C 7: 25,230,132 (GRCm39) E158G possibly damaging Het
Cel T C 2: 28,450,576 (GRCm39) I150V probably benign Het
Chd5 A G 4: 152,445,432 (GRCm39) H441R probably damaging Het
Clic5 G T 17: 44,559,633 (GRCm39) R109L probably benign Het
Cpd T C 11: 76,703,466 (GRCm39) M466V probably benign Het
Cyp39a1 T A 17: 44,057,509 (GRCm39) probably benign Het
Dnah11 C A 12: 117,946,767 (GRCm39) A3106S probably benign Het
Fasn A C 11: 120,699,849 (GRCm39) probably null Het
Fat1 G A 8: 45,476,086 (GRCm39) V1688I probably benign Het
Fibcd1 A G 2: 31,723,865 (GRCm39) I258T probably benign Het
Frem2 C A 3: 53,561,012 (GRCm39) R1165I possibly damaging Het
Gm5627 C T 9: 102,626,685 (GRCm39) noncoding transcript Het
Gm5862 T A 5: 26,224,514 (GRCm39) T152S probably benign Het
Gnb3 T A 6: 124,814,218 (GRCm39) D154V probably damaging Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Klrb1 C A 6: 128,699,968 (GRCm39) E14D probably benign Het
Osbpl1a A T 18: 12,889,271 (GRCm39) D556E possibly damaging Het
Pkd1 T C 17: 24,795,497 (GRCm39) V2330A probably damaging Het
Pkdrej T C 15: 85,701,901 (GRCm39) K1345R possibly damaging Het
Plxna4 A G 6: 32,134,936 (GRCm39) F1756L probably damaging Het
Psg28 A C 7: 18,164,296 (GRCm39) S139A probably benign Het
Ptpru A T 4: 131,535,792 (GRCm39) I395N possibly damaging Het
Reps1 A G 10: 17,983,435 (GRCm39) E426G probably damaging Het
Rtp4 T A 16: 23,432,004 (GRCm39) S179T probably benign Het
Sh3pxd2a C A 19: 47,257,035 (GRCm39) R561L probably benign Het
Slc29a2 T A 19: 5,077,467 (GRCm39) L215Q possibly damaging Het
Slc44a4 T C 17: 35,147,994 (GRCm39) F653L probably damaging Het
Sulf1 G T 1: 12,906,428 (GRCm39) R490L possibly damaging Het
Ttll4 T C 1: 74,725,052 (GRCm39) L602P probably damaging Het
Ttn A G 2: 76,607,134 (GRCm39) V17963A probably damaging Het
Urb1 A G 16: 90,557,347 (GRCm39) S1760P probably damaging Het
Zmynd11 G A 13: 9,747,724 (GRCm39) R149W probably damaging Het
Other mutations in 1600012H06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:1600012H06Rik APN 17 15,164,181 (GRCm39) splice site probably null
IGL01845:1600012H06Rik APN 17 15,164,380 (GRCm39) missense probably damaging 1.00
ANU18:1600012H06Rik UTSW 17 15,164,181 (GRCm39) splice site probably null
R0556:1600012H06Rik UTSW 17 15,164,213 (GRCm39) nonsense probably null
R1983:1600012H06Rik UTSW 17 15,164,272 (GRCm39) missense probably damaging 0.99
R4841:1600012H06Rik UTSW 17 15,164,001 (GRCm39) missense possibly damaging 0.92
R4842:1600012H06Rik UTSW 17 15,164,001 (GRCm39) missense possibly damaging 0.92
R7504:1600012H06Rik UTSW 17 15,163,915 (GRCm39) missense probably damaging 0.97
R9697:1600012H06Rik UTSW 17 15,163,769 (GRCm39) unclassified probably benign
Posted On 2013-12-09