Incidental Mutation 'R6006:Ssr1'
ID 479498
Institutional Source Beutler Lab
Gene Symbol Ssr1
Ensembl Gene ENSMUSG00000021427
Gene Name signal sequence receptor, alpha
Synonyms SSR, TRAPalpha
MMRRC Submission 044183-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6006 (G1)
Quality Score 217.468
Status Not validated
Chromosome 13
Chromosomal Location 38155377-38178184 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TCTCTTTC to T at 38169972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021864] [ENSMUST00000224399] [ENSMUST00000225246] [ENSMUST00000225319]
AlphaFold Q9CY50
Predicted Effect probably null
Transcript: ENSMUST00000021864
SMART Domains Protein: ENSMUSP00000021864
Gene: ENSMUSG00000021427

DomainStartEndE-ValueType
Pfam:TRAP_alpha 6 285 1.1e-124 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224399
Predicted Effect probably null
Transcript: ENSMUST00000225246
Predicted Effect probably null
Transcript: ENSMUST00000225319
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.3%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 124,694,804 (GRCm39) I296T probably benign Het
Abcb4 C A 5: 8,996,026 (GRCm39) T894K probably damaging Het
Acad12 C T 5: 121,737,299 (GRCm39) V491I possibly damaging Het
Actr8 T A 14: 29,706,099 (GRCm39) probably null Het
Adam7 A C 14: 68,748,845 (GRCm39) D467E probably damaging Het
Adamts18 A T 8: 114,433,606 (GRCm39) C1043S probably damaging Het
Adgrb3 T G 1: 25,865,612 (GRCm39) D77A possibly damaging Het
Arhgap20 T A 9: 51,761,426 (GRCm39) D1056E probably benign Het
Bco1 A G 8: 117,840,330 (GRCm39) probably null Het
Btn2a2 A T 13: 23,670,533 (GRCm39) W67R probably damaging Het
Camkmt A T 17: 85,759,666 (GRCm39) N269Y possibly damaging Het
Cand1 A G 10: 119,045,933 (GRCm39) F991L possibly damaging Het
Cchcr1 A G 17: 35,835,597 (GRCm39) K234E possibly damaging Het
Cd14 T C 18: 36,859,335 (GRCm39) D40G possibly damaging Het
Cdc73 A T 1: 143,493,177 (GRCm39) F386I probably damaging Het
Cdk14 C T 5: 5,299,211 (GRCm39) M1I probably null Het
Cnpy3 A C 17: 47,047,790 (GRCm39) S220A probably benign Het
Col22a1 A G 15: 71,845,685 (GRCm39) V359A probably damaging Het
Col6a3 C A 1: 90,696,105 (GRCm39) C2654F unknown Het
Colgalt2 A G 1: 152,348,912 (GRCm39) T186A probably damaging Het
Cpsf4l A G 11: 113,590,753 (GRCm39) V199A probably benign Het
Dhtkd1 G A 2: 5,908,836 (GRCm39) Q753* probably null Het
Ep400 A G 5: 110,852,825 (GRCm39) S1307P unknown Het
Fer1l6 T C 15: 58,518,893 (GRCm39) V1675A probably damaging Het
Glis1 T C 4: 107,425,103 (GRCm39) L238P probably damaging Het
Ift70a1 A G 2: 75,811,832 (GRCm39) Y84H probably benign Het
Iqgap3 T A 3: 87,998,854 (GRCm39) D318E probably damaging Het
Lats1 T C 10: 7,581,359 (GRCm39) F715L probably damaging Het
Mlxip T C 5: 123,583,721 (GRCm39) F428S possibly damaging Het
Morc3 T G 16: 93,663,381 (GRCm39) I528R possibly damaging Het
Mtx1 C T 3: 89,117,613 (GRCm39) G60D probably damaging Het
Mug2 G C 6: 122,060,459 (GRCm39) Q1398H probably null Het
Mup8 T C 4: 60,220,403 (GRCm39) I110V probably benign Het
Nfkb1 A T 3: 135,309,522 (GRCm39) L12* probably null Het
Numa1 G A 7: 101,641,926 (GRCm39) probably null Het
Or52e18 T G 7: 104,609,870 (GRCm39) E23A probably damaging Het
Pbk C T 14: 66,054,094 (GRCm39) P213L probably damaging Het
Pdcd1lg2 T A 19: 29,431,905 (GRCm39) H224Q possibly damaging Het
Pkp1 C G 1: 135,805,406 (GRCm39) probably null Het
Rela A G 19: 5,689,967 (GRCm39) N139S probably damaging Het
Rgs3 G A 4: 62,542,143 (GRCm39) R39Q probably damaging Het
S1pr3 A G 13: 51,573,731 (GRCm39) E304G probably damaging Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Setmar T C 6: 108,053,387 (GRCm39) S294P possibly damaging Het
Smc2 A G 4: 52,459,024 (GRCm39) N473S probably benign Het
Tigd2 A G 6: 59,187,762 (GRCm39) I210V possibly damaging Het
Tmprss9 T A 10: 80,719,555 (GRCm39) F93L possibly damaging Het
U2surp T C 9: 95,361,360 (GRCm39) Y633C probably damaging Het
Usp18 A T 6: 121,239,781 (GRCm39) E292V possibly damaging Het
Usp32 A C 11: 84,883,277 (GRCm39) probably null Het
Utp18 T C 11: 93,776,449 (GRCm39) D12G probably benign Het
Vmn1r216 C A 13: 23,283,928 (GRCm39) H204N probably benign Het
Wdr97 T C 15: 76,241,372 (GRCm39) V626A probably damaging Het
Wwc1 A T 11: 35,761,809 (GRCm39) V619E probably null Het
Wwc1 T C 11: 35,780,100 (GRCm39) D285G probably damaging Het
Zfp3 A T 11: 70,662,590 (GRCm39) Q183L probably benign Het
Zfp955a A G 17: 33,460,660 (GRCm39) C491R 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
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
Predicted Primers PCR Primer
(F):5'- CTTTGTAGAAGCAGTGCTCAGG -3'
(R):5'- CGGAGAATTAGACCAGGCATTG -3'

Sequencing Primer
(F):5'- AAGCAGTGCTCAGGCTCCAC -3'
(R):5'- CAGGCATTGAATAGTACAATTATGGC -3'
Posted On 2017-06-26