Incidental Mutation 'R6659:Ssr1'
ID 526778
Institutional Source Beutler Lab
Gene Symbol Ssr1
Ensembl Gene ENSMUSG00000021427
Gene Name signal sequence receptor, alpha
Synonyms SSR, TRAPalpha
MMRRC Submission 044779-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6659 (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 T at 38171666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 124 (F124I)
Ref Sequence ENSEMBL: ENSMUSP00000153120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021864] [ENSMUST00000224399] [ENSMUST00000225246] [ENSMUST00000225319]
AlphaFold Q9CY50
Predicted Effect possibly damaging
Transcript: ENSMUST00000021864
AA Change: F124I

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021864
Gene: ENSMUSG00000021427
AA Change: F124I

DomainStartEndE-ValueType
Pfam:TRAP_alpha 6 285 1.1e-124 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000224399
AA Change: F107I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000225246
AA Change: F124I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000225319
AA Change: F124I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,950,133 (GRCm39) D212G probably damaging Het
Add1 C T 5: 34,770,639 (GRCm39) A250V possibly damaging Het
Atxn2 A G 5: 121,916,027 (GRCm39) N411S probably benign Het
AW551984 T C 9: 39,500,395 (GRCm39) T788A probably benign Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ddx46 A G 13: 55,817,537 (GRCm39) T721A probably damaging Het
Eif2b1 G A 5: 124,717,171 (GRCm39) probably benign Het
Eif4g3 A G 4: 137,905,243 (GRCm39) K1241E probably damaging Het
Engase T A 11: 118,372,142 (GRCm39) Y145N probably benign Het
Fbrs C A 7: 127,087,091 (GRCm39) A674D probably damaging Het
Gm4884 G A 7: 40,694,046 (GRCm39) G672R probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Iars2 T A 1: 185,020,273 (GRCm39) I954F possibly damaging Het
Itgad A T 7: 127,785,120 (GRCm39) I310F probably damaging Het
Kcnmb3 A G 3: 32,526,594 (GRCm39) V199A possibly damaging Het
Kctd12 G T 14: 103,219,622 (GRCm39) D85E probably damaging Het
Lama1 G A 17: 68,125,630 (GRCm39) R2929H probably damaging Het
Lgmn T A 12: 102,368,951 (GRCm39) Y176F probably benign Het
Lipo3 A G 19: 33,533,828 (GRCm39) F335L possibly damaging Het
Map2k3 T C 11: 60,833,150 (GRCm39) S46P probably benign Het
Megf8 C A 7: 25,058,159 (GRCm39) H2144Q probably benign Het
Neb A T 2: 52,124,365 (GRCm39) W3694R probably damaging Het
Nek10 A G 14: 14,861,684 (GRCm38) E580G probably benign Het
Obscn G A 11: 58,929,835 (GRCm39) P5930S probably damaging Het
Palld A G 8: 61,986,477 (GRCm39) F621L probably benign Het
Pkn2 A T 3: 142,509,348 (GRCm39) I732N probably damaging Het
Plpbp T A 8: 27,542,307 (GRCm39) I214N possibly damaging Het
Ppp1r37 A G 7: 19,266,048 (GRCm39) S573P probably benign Het
Prg4 C A 1: 150,336,432 (GRCm39) C97F probably damaging Het
Prmt2 T C 10: 76,053,208 (GRCm39) D269G possibly damaging Het
Ptbp3 T A 4: 59,517,640 (GRCm39) L80F probably damaging Het
Reep1 T A 6: 71,750,179 (GRCm39) F64I probably damaging Het
Srcap C A 7: 127,141,563 (GRCm39) P1720Q probably damaging Het
Tbx18 A G 9: 87,589,864 (GRCm39) L358P probably damaging Het
Tfpt T C 7: 3,623,835 (GRCm39) K71E probably benign Het
Tmem132a C A 19: 10,837,685 (GRCm39) G542C probably damaging Het
Tmem135 C A 7: 88,956,371 (GRCm39) L81F probably benign Het
Tmem135 A T 7: 88,956,372 (GRCm39) L81* probably null Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Washc5 A G 15: 59,212,739 (GRCm39) probably null Het
Zfp24 T C 18: 24,150,391 (GRCm39) E173G possibly damaging Het
Zgrf1 T C 3: 127,410,155 (GRCm39) I1814T 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
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'- TATGCACTTAAACAGACGGGAC -3'
(R):5'- TAGACTACAGCCCTGGGTTC -3'

Sequencing Primer
(F):5'- ACAACTCAAAAGGTCTTACGTTC -3'
(R):5'- TACAGCCCTGGGTTCTCAGAG -3'
Posted On 2018-07-23