Incidental Mutation 'IGL02958:Ssr4'
ID 365210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssr4
Ensembl Gene ENSMUSG00000002014
Gene Name signal sequence receptor, delta
Synonyms Trap
Accession Numbers
Essential gene? Not available question?
Stock # IGL02958
Quality Score
Status
Chromosome X
Chromosomal Location 72830634-72834436 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 72830856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000056502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002090] [ENSMUST00000052761] [ENSMUST00000166518]
AlphaFold Q62186
Predicted Effect unknown
Transcript: ENSMUST00000002090
AA Change: M4T
SMART Domains Protein: ENSMUSP00000002090
Gene: ENSMUSG00000002014
AA Change: M4T

DomainStartEndE-ValueType
Pfam:TRAP-delta 4 172 3.7e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052761
SMART Domains Protein: ENSMUSP00000056502
Gene: ENSMUSG00000002010

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
Iso_dh 56 379 1.1e-141 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141721
Predicted Effect unknown
Transcript: ENSMUST00000166518
AA Change: M4T
SMART Domains Protein: ENSMUSP00000131386
Gene: ENSMUSG00000002014
AA Change: M4T

DomainStartEndE-ValueType
Pfam:TRAP-delta 6 173 4.7e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142829
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 the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G T 17: 45,829,098 (GRCm39) V755L probably benign Het
Abhd15 T C 11: 77,406,791 (GRCm39) V256A possibly damaging Het
Agtr1b A T 3: 20,370,258 (GRCm39) V116E possibly damaging Het
Ahi1 A T 10: 20,839,698 (GRCm39) D203V probably damaging Het
Aplp2 G T 9: 31,075,972 (GRCm39) probably benign Het
Arid4a T C 12: 71,144,337 (GRCm39) S1249P probably benign Het
Asz1 T A 6: 18,073,813 (GRCm39) K298M possibly damaging Het
C4bp A G 1: 130,564,532 (GRCm39) I384T probably damaging Het
Cacna1e C A 1: 154,341,487 (GRCm39) A1236S probably damaging Het
Cdh13 T C 8: 120,039,460 (GRCm39) I634T possibly damaging Het
Cemip A T 7: 83,624,263 (GRCm39) F524L probably damaging Het
Dnah7c G A 1: 46,696,271 (GRCm39) R2051H probably damaging Het
Dnajc17 T C 2: 119,016,243 (GRCm39) K77E probably benign Het
Efhc2 C T X: 17,027,485 (GRCm39) probably benign Het
Ergic2 A T 6: 148,083,441 (GRCm39) *50K probably null Het
Fam83g C T 11: 61,598,548 (GRCm39) P812S probably damaging Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Itih3 T C 14: 30,635,139 (GRCm39) T73A probably benign Het
Kcnj1 A G 9: 32,307,851 (GRCm39) S72G probably damaging Het
Kcnn4 T C 7: 24,074,170 (GRCm39) V78A probably benign Het
Lrp1b T A 2: 41,192,928 (GRCm39) D1353V probably damaging Het
Lrrc2 T A 9: 110,791,741 (GRCm39) probably null Het
Mplkipl1 G T 19: 61,164,118 (GRCm39) Q106K possibly damaging Het
Ndufs8 T C 19: 3,961,232 (GRCm39) E45G probably benign Het
Nell1 G A 7: 49,870,085 (GRCm39) probably null Het
Nxt1 A G 2: 148,517,692 (GRCm39) probably benign Het
Or2y17 A G 11: 49,232,127 (GRCm39) Y256C probably benign Het
Or5al5 T A 2: 85,961,351 (GRCm39) I219F probably benign Het
Pdzd8 A T 19: 59,288,804 (GRCm39) C865* probably null Het
Pop1 G T 15: 34,530,509 (GRCm39) C969F probably damaging Het
Rc3h2 A C 2: 37,304,712 (GRCm39) I16S probably damaging Het
Shank1 T C 7: 44,003,897 (GRCm39) V1863A possibly damaging Het
Slc15a4 A T 5: 127,681,729 (GRCm39) L296Q possibly damaging Het
Spmip1 G A 6: 29,471,625 (GRCm39) G34R probably damaging Het
Supt20 T A 3: 54,621,144 (GRCm39) probably benign Het
Ttc8 A T 12: 98,930,803 (GRCm39) K282N probably benign Het
Usp40 A T 1: 87,906,207 (GRCm39) V676E probably damaging Het
Vmn1r43 T C 6: 89,847,031 (GRCm39) I152V probably benign Het
Vmn2r61 A T 7: 41,949,361 (GRCm39) I594F probably benign Het
Vps53 A C 11: 76,008,537 (GRCm39) I261S probably damaging Het
Wdr19 T A 5: 65,370,150 (GRCm39) probably null Het
Zc3hav1 T A 6: 38,309,919 (GRCm39) D301V probably damaging Het
Posted On 2015-12-18