Incidental Mutation 'IGL00672:Ssr3'
ID 14242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssr3
Ensembl Gene ENSMUSG00000027828
Gene Name signal sequence receptor, gamma
Synonyms translocon-associated protein gamma, Trap-gamma, 0610038P07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00672
Quality Score
Status
Chromosome 3
Chromosomal Location 65287078-65299974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 65298831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 59 (A59S)
Ref Sequence ENSEMBL: ENSMUSP00000113831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029414] [ENSMUST00000119896]
AlphaFold Q9DCF9
Predicted Effect probably benign
Transcript: ENSMUST00000029414
AA Change: A59S

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029414
Gene: ENSMUSG00000027828
AA Change: A59S

DomainStartEndE-ValueType
Pfam:TRAP-gamma 12 183 5.6e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119896
AA Change: A59S

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113831
Gene: ENSMUSG00000027828
AA Change: A59S

DomainStartEndE-ValueType
Pfam:TRAP-gamma 12 179 4.3e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131852
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality with growth retardation, reduced placental size and impaired placental vascular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,657,736 (GRCm39) probably benign Het
Adamts20 A G 15: 94,238,986 (GRCm39) I744T probably damaging Het
Akap11 G A 14: 78,748,781 (GRCm39) A1202V probably damaging Het
C130032M10Rik A G 9: 114,344,898 (GRCm39) V340A probably damaging Het
Csnk1g1 G T 9: 65,915,028 (GRCm39) S229I probably damaging Het
E130308A19Rik A G 4: 59,719,697 (GRCm39) S410G probably benign Het
Eif2s2 T A 2: 154,729,629 (GRCm39) I98L probably benign Het
En1 T C 1: 120,534,667 (GRCm39) F319L unknown Het
Fmnl3 A T 15: 99,223,562 (GRCm39) Y345N probably damaging Het
Fras1 T C 5: 96,907,309 (GRCm39) probably benign Het
Gm12695 A G 4: 96,637,419 (GRCm39) L366P probably damaging Het
Golga3 T C 5: 110,360,110 (GRCm39) L1156S probably damaging Het
Gpcpd1 G T 2: 132,372,468 (GRCm39) probably benign Het
Hvcn1 C A 5: 122,376,534 (GRCm39) F155L probably benign Het
Jcad T C 18: 4,674,835 (GRCm39) S866P possibly damaging Het
Kdm4c A G 4: 74,261,751 (GRCm39) N642S probably benign Het
Kif2c T C 4: 117,035,443 (GRCm39) I2V probably benign Het
Klri2 T A 6: 129,710,034 (GRCm39) I189F probably damaging Het
Lair1 T A 7: 4,031,730 (GRCm39) T126S probably benign Het
Lins1 A T 7: 66,364,279 (GRCm39) K725* probably null Het
Lman2l T A 1: 36,477,915 (GRCm39) probably null Het
Map3k10 T C 7: 27,361,026 (GRCm39) K496E probably damaging Het
Nr2f2 A G 7: 70,007,514 (GRCm39) S170P possibly damaging Het
Polr1b G A 2: 128,967,392 (GRCm39) M928I probably damaging Het
Rffl G A 11: 82,709,310 (GRCm39) P38S probably damaging Het
Rtl1 T C 12: 109,559,434 (GRCm39) S802G probably benign Het
Sema5a A G 15: 32,619,026 (GRCm39) E518G probably benign Het
Smdt1 G A 15: 82,230,384 (GRCm39) V34I possibly damaging Het
Stk4 A G 2: 163,959,999 (GRCm39) K59E probably benign Het
Syne2 C T 12: 76,110,958 (GRCm39) T1024M probably damaging Het
Taf5 A T 19: 47,070,740 (GRCm39) D723V probably damaging Het
Tescl T C 7: 24,033,035 (GRCm39) T97A probably benign Het
Thada A T 17: 84,751,646 (GRCm39) S443R probably benign Het
Trp53bp2 A T 1: 182,268,541 (GRCm39) H205L probably benign Het
Ube4b A G 4: 149,465,823 (GRCm39) V209A probably benign Het
Zfp957 G T 14: 79,450,838 (GRCm39) D320E unknown Het
Zfr2 T C 10: 81,077,919 (GRCm39) S249P probably damaging Het
Zmpste24 A G 4: 120,923,057 (GRCm39) I386T probably damaging Het
Other mutations in Ssr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4929:Ssr3 UTSW 3 65,295,175 (GRCm39) missense probably damaging 1.00
R4937:Ssr3 UTSW 3 65,299,874 (GRCm39) missense probably damaging 0.98
R7615:Ssr3 UTSW 3 65,295,213 (GRCm39) missense probably damaging 1.00
R7696:Ssr3 UTSW 3 65,299,886 (GRCm39) missense probably benign 0.04
R9165:Ssr3 UTSW 3 65,290,521 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06