Incidental Mutation 'R9086:Ssr1'
ID 690624
Institutional Source Beutler Lab
Gene Symbol Ssr1
Ensembl Gene ENSMUSG00000021427
Gene Name signal sequence receptor, alpha
Synonyms SSR, TRAPalpha
MMRRC Submission 068905-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9086 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 38155377-38178184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38167449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 238 (I238T)
Ref Sequence ENSEMBL: ENSMUSP00000021864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021864] [ENSMUST00000224399] [ENSMUST00000225246] [ENSMUST00000225319]
AlphaFold Q9CY50
Predicted Effect probably benign
Transcript: ENSMUST00000021864
AA Change: I238T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021864
Gene: ENSMUSG00000021427
AA Change: I238T

DomainStartEndE-ValueType
Pfam:TRAP_alpha 6 285 1.1e-124 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224399
Predicted Effect probably benign
Transcript: ENSMUST00000225246
AA Change: I238T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000225319
AA Change: I238T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 109,992,879 (GRCm39) E1595G probably damaging Het
Ank1 T C 8: 23,589,636 (GRCm39) V608A probably damaging Het
Arl14epl T C 18: 47,065,661 (GRCm39) V142A possibly damaging Het
Atp8a1 T C 5: 67,932,159 (GRCm39) D210G Het
Baz1b T C 5: 135,260,538 (GRCm39) F1112L probably damaging Het
Cage1 T A 13: 38,206,898 (GRCm39) I316F probably damaging Het
Car2 A C 3: 14,952,968 (GRCm39) T37P probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Cntnap3 T A 13: 64,929,573 (GRCm39) D542V probably damaging Het
Coro1b T C 19: 4,202,525 (GRCm39) Y338H probably damaging Het
Ctdspl2 G A 2: 121,838,298 (GRCm39) probably null Het
Cyp2a12 T C 7: 26,735,944 (GRCm39) F451S probably damaging Het
Dpm2 T C 2: 32,462,391 (GRCm39) L59P probably damaging Het
Duoxa2 A G 2: 122,131,821 (GRCm39) Y170C probably damaging Het
Dus2 T A 8: 106,742,573 (GRCm39) Y34* probably null Het
Dzip3 A G 16: 48,781,493 (GRCm39) I266T possibly damaging Het
Ebf3 T C 7: 136,800,994 (GRCm39) T455A possibly damaging Het
Echdc2 C T 4: 108,027,076 (GRCm39) Q74* probably null Het
Efhc1 T C 1: 21,025,592 (GRCm39) Y33H probably damaging Het
Fam20a A T 11: 109,566,754 (GRCm39) C378* probably null Het
Fbxo25 C A 8: 13,989,621 (GRCm39) P356Q probably damaging Het
Fig4 G T 10: 41,161,399 (GRCm39) T59K possibly damaging Het
Gbp10 T A 5: 105,366,369 (GRCm39) M512L probably benign Het
Gdf10 T A 14: 33,654,221 (GRCm39) Y243N probably damaging Het
Golga5 T A 12: 102,458,476 (GRCm39) S640T probably benign Het
H1f9 A T 11: 94,859,083 (GRCm39) K126M possibly damaging Het
Ints1 A T 5: 139,743,947 (GRCm39) H1540Q probably benign Het
Lipo3 A T 19: 33,534,529 (GRCm39) L310Q probably benign Het
Lrrk2 A G 15: 91,640,051 (GRCm39) K1532R probably benign Het
Ltc4s T C 11: 50,128,074 (GRCm39) Y59C probably damaging Het
Macf1 T A 4: 123,377,944 (GRCm39) H1427L probably damaging Het
Mroh2b A G 15: 4,982,754 (GRCm39) probably null Het
Mthfd1l A T 10: 3,923,412 (GRCm39) D53V probably benign Het
Muc4 C A 16: 32,577,842 (GRCm39) P303Q Het
Nrxn1 A G 17: 90,469,792 (GRCm39) F1293S probably damaging Het
Nrxn2 G A 19: 6,540,108 (GRCm39) E803K probably damaging Het
Nup155 A G 15: 8,177,830 (GRCm39) D1071G possibly damaging Het
Or1l4b T A 2: 37,036,426 (GRCm39) D67E probably damaging Het
Or2ag18 A T 7: 106,405,126 (GRCm39) I181N probably benign Het
Or2ak6 T A 11: 58,592,955 (GRCm39) S143T possibly damaging Het
Papln A G 12: 83,821,633 (GRCm39) E287G probably damaging Het
Pex13 C A 11: 23,615,760 (GRCm39) G29C probably damaging Het
Phrf1 C A 7: 140,839,412 (GRCm39) T869K unknown Het
Pitrm1 A G 13: 6,627,517 (GRCm39) T912A probably benign Het
Pla2g4c A G 7: 13,071,692 (GRCm39) K171E probably benign Het
Pnpla7 A T 2: 24,929,709 (GRCm39) T833S probably damaging Het
Por G T 5: 135,744,918 (GRCm39) probably null Het
Rab3ip G A 10: 116,775,310 (GRCm39) S16L probably damaging Het
Rabgef1 A T 5: 130,240,792 (GRCm39) I304F probably benign Het
Rbbp8 T C 18: 11,875,736 (GRCm39) V883A possibly damaging Het
Rnase4 A G 14: 51,342,429 (GRCm39) D51G possibly damaging Het
Rnf13 A C 3: 57,740,997 (GRCm39) D291A probably benign Het
Rps6kb2 A T 19: 4,209,270 (GRCm39) I191N probably damaging Het
Scn1a A G 2: 66,181,358 (GRCm39) L55S probably benign Het
Son T A 16: 91,467,418 (GRCm39) F2260I unknown Het
Spata31h1 C T 10: 82,124,577 (GRCm39) S2811N probably benign Het
Stk11ip A G 1: 75,506,818 (GRCm39) E633G possibly damaging Het
Svs3a A G 2: 164,132,062 (GRCm39) Y211C probably benign Het
Sytl1 T A 4: 132,988,175 (GRCm39) E60D possibly damaging Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Tlr1 T C 5: 65,083,198 (GRCm39) I460V probably damaging Het
Tmem64 T C 4: 15,266,718 (GRCm39) I256T probably damaging Het
Ttll5 G A 12: 85,964,516 (GRCm39) A553T possibly damaging Het
Ttll5 A T 12: 86,071,107 (GRCm39) T1327S probably benign Het
Upp2 T A 2: 58,680,177 (GRCm39) C334* probably null Het
Wdr74 C A 19: 8,713,358 (GRCm39) N24K possibly damaging Het
Zbtb42 G A 12: 112,645,848 (GRCm39) V8I probably benign Het
Zfp541 T A 7: 15,824,329 (GRCm39) L1078Q probably damaging Het
Zfr2 T C 10: 81,076,029 (GRCm39) V212A probably damaging Het
Other mutations in Ssr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Ssr1 APN 13 38,167,407 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGCTAGAGTCAACAAGCAATGG -3'
(R):5'- CTGGCAGACAAAATGTGTATTAGGG -3'

Sequencing Primer
(F):5'- TCAGTGTAAAATAGTACTGACCAAAC -3'
(R):5'- CTTTAATCCTAGGACTCAGGAGGC -3'
Posted On 2021-12-30