Incidental Mutation 'IGL00540:Ssr1'
ID 14241
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssr1
Ensembl Gene ENSMUSG00000021427
Gene Name signal sequence receptor, alpha
Synonyms SSR, TRAPalpha
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00540
Quality Score
Status
Chromosome 13
Chromosomal Location 38155377-38178184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38167407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 252 (D252G)
Ref Sequence ENSEMBL: ENSMUSP00000152975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021864] [ENSMUST00000224399] [ENSMUST00000225246] [ENSMUST00000225319]
AlphaFold Q9CY50
Predicted Effect probably damaging
Transcript: ENSMUST00000021864
AA Change: D252G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021864
Gene: ENSMUSG00000021427
AA Change: D252G

DomainStartEndE-ValueType
Pfam:TRAP_alpha 6 285 1.1e-124 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224399
Predicted Effect probably damaging
Transcript: ENSMUST00000225246
AA Change: D252G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225319
AA Change: D252G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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 consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutation of this gene results in neonatal lethality, subcutaneous edema, and cardiac defects, including absence of septation of the proximal part of the outflow tract, double outlet right ventricle, persistent truncus arteriosis, and abnormal development of the endocardial cushion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph G T 13: 19,304,776 (GRCm39) G398V probably damaging Het
C2cd3 T G 7: 100,040,335 (GRCm39) S301R probably benign Het
Calr G A 8: 85,571,373 (GRCm39) P178S possibly damaging Het
Cbll1 G T 12: 31,537,940 (GRCm39) P271T probably damaging Het
Ccl7 A T 11: 81,937,888 (GRCm39) D89V probably damaging Het
Cd82 T A 2: 93,251,004 (GRCm39) I179F probably null Het
Cdh10 A T 15: 18,964,081 (GRCm39) D81V probably damaging Het
Cenpo A G 12: 4,266,685 (GRCm39) V141A probably benign Het
Dnah11 A G 12: 118,150,657 (GRCm39) V367A probably benign Het
Fam161b T C 12: 84,408,525 (GRCm39) probably benign Het
Gemin5 G A 11: 58,051,644 (GRCm39) P268S probably damaging Het
Gm5965 T A 16: 88,575,228 (GRCm39) C134S probably damaging Het
Icam4 C A 9: 20,941,382 (GRCm39) R174S possibly damaging Het
Kdm5a T A 6: 120,362,680 (GRCm39) probably null Het
Klhl10 A G 11: 100,336,244 (GRCm39) K77R probably benign Het
Mrgprb1 A T 7: 48,097,291 (GRCm39) V207E probably damaging Het
Myh10 A G 11: 68,681,534 (GRCm39) N1067S probably benign Het
Myo1b T C 1: 51,803,113 (GRCm39) E856G possibly damaging Het
Nbea T C 3: 55,535,914 (GRCm39) Y2890C probably damaging Het
Pcdhb16 T C 18: 37,612,851 (GRCm39) S604P probably damaging Het
Pelp1 A T 11: 70,285,638 (GRCm39) D743E possibly damaging Het
Pisd T C 5: 32,895,756 (GRCm39) I441V probably benign Het
Rab25 A G 3: 88,452,546 (GRCm39) S21P probably damaging Het
Spata31e2 A G 1: 26,724,058 (GRCm39) I374T probably benign Het
Sspo G A 6: 48,475,147 (GRCm39) probably benign Het
Stx1b T C 7: 127,409,870 (GRCm39) E19G probably damaging Het
Tbc1d23 T A 16: 56,992,139 (GRCm39) E607V probably damaging Het
Tchhl1 A G 3: 93,378,230 (GRCm39) I311M probably benign Het
Trpm6 C T 19: 18,761,272 (GRCm39) probably benign Het
Other mutations in Ssr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02189:Ssr1 APN 13 38,171,492 (GRCm39) critical splice donor site probably null
R1102:Ssr1 UTSW 13 38,171,591 (GRCm39) missense probably benign 0.29
R1625:Ssr1 UTSW 13 38,173,479 (GRCm39) critical splice donor site probably null
R2022:Ssr1 UTSW 13 38,173,525 (GRCm39) missense probably damaging 0.96
R2055:Ssr1 UTSW 13 38,171,761 (GRCm39) splice site probably benign
R4274:Ssr1 UTSW 13 38,169,266 (GRCm39) missense possibly damaging 0.78
R6006:Ssr1 UTSW 13 38,169,972 (GRCm39) frame shift probably null
R6659:Ssr1 UTSW 13 38,171,666 (GRCm39) missense probably damaging 0.98
R6920:Ssr1 UTSW 13 38,169,998 (GRCm39) missense probably damaging 1.00
R7034:Ssr1 UTSW 13 38,178,001 (GRCm39) missense probably null
R7036:Ssr1 UTSW 13 38,178,001 (GRCm39) missense probably null
R8697:Ssr1 UTSW 13 38,167,425 (GRCm39) nonsense probably null
R9086:Ssr1 UTSW 13 38,167,449 (GRCm39) missense probably benign
Posted On 2012-12-06