Incidental Mutation 'R7901:Spcs1'
ID 610010
Institutional Source Beutler Lab
Gene Symbol Spcs1
Ensembl Gene ENSMUSG00000021917
Gene Name signal peptidase complex subunit 1 homolog (S. cerevisiae)
Synonyms 1810004F21Rik
MMRRC Submission 045953-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R7901 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 30721783-30723330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30722628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 64 (Y64H)
Ref Sequence ENSEMBL: ENSMUSP00000154169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022476] [ENSMUST00000168584] [ENSMUST00000186131] [ENSMUST00000226374] [ENSMUST00000226378] [ENSMUST00000226782] [ENSMUST00000228736] [ENSMUST00000228767]
AlphaFold Q9D958
Predicted Effect probably benign
Transcript: ENSMUST00000022476
SMART Domains Protein: ENSMUSP00000022476
Gene: ENSMUSG00000021916

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Glyco_transf_8 67 340 1.7e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168584
SMART Domains Protein: ENSMUSP00000129323
Gene: ENSMUSG00000021916

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Glyco_transf_8 67 340 8.6e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186131
SMART Domains Protein: ENSMUSP00000139654
Gene: ENSMUSG00000021917

DomainStartEndE-ValueType
Pfam:SPC12 71 149 2.1e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226374
AA Change: Y64H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000226378
Predicted Effect probably benign
Transcript: ENSMUST00000226782
Predicted Effect probably benign
Transcript: ENSMUST00000228736
Predicted Effect probably benign
Transcript: ENSMUST00000228767
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,119,434 (GRCm39) probably null Het
Adpgk T C 9: 59,222,300 (GRCm39) V409A probably benign Het
Agfg2 A T 5: 137,665,966 (GRCm39) F98I probably damaging Het
Arhgap17 A T 7: 122,885,791 (GRCm39) probably benign Het
Asb8 T C 15: 98,040,614 (GRCm39) Y16C probably damaging Het
Atp6v0a2 C T 5: 124,779,485 (GRCm39) T200I probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccnt1 A T 15: 98,441,797 (GRCm39) D490E probably benign Het
Cenpf G T 1: 189,389,445 (GRCm39) D1462E probably damaging Het
Clcn6 C T 4: 148,095,202 (GRCm39) R736H probably damaging Het
Col4a2 A T 8: 11,479,358 (GRCm39) D747V probably benign Het
Cplane1 A G 15: 8,299,190 (GRCm39) E3126G unknown Het
Crybg3 T C 16: 59,377,907 (GRCm39) T1116A probably damaging Het
Csf1r T A 18: 61,243,368 (GRCm39) L128Q probably damaging Het
Ddx17 A T 15: 79,422,789 (GRCm39) D316E probably damaging Het
Ect2l T A 10: 18,017,712 (GRCm39) D681V possibly damaging Het
Ell2 A T 13: 75,912,105 (GRCm39) K464* probably null Het
Eme1 G T 11: 94,541,645 (GRCm39) P59Q probably damaging Het
Etl4 T C 2: 20,294,821 (GRCm39) S2P possibly damaging Het
Fndc9 T C 11: 46,128,576 (GRCm39) Y32H probably damaging Het
Frem1 G T 4: 82,877,614 (GRCm39) T1321K probably benign Het
Gabrg2 A G 11: 41,867,418 (GRCm39) V67A probably benign Het
Gm4553 ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG 7: 141,718,602 (GRCm39) probably benign Het
Gm5145 A C 17: 20,790,900 (GRCm39) I93L possibly damaging Het
Gpld1 T A 13: 25,146,758 (GRCm39) V240E probably damaging Het
Gsc T A 12: 104,439,131 (GRCm39) S82C possibly damaging Het
H2-T10 C T 17: 36,431,143 (GRCm39) E173K probably benign Het
Ifi213 A T 1: 173,394,784 (GRCm39) S584T probably benign Het
Klk1b1 T C 7: 43,620,669 (GRCm39) I253T probably damaging Het
Klra4 A G 6: 130,040,113 (GRCm39) L53P probably damaging Het
Lct A G 1: 128,216,722 (GRCm39) Y1697H probably benign Het
Mrs2 T A 13: 25,202,549 (GRCm39) D64V possibly damaging Het
Muc13 A G 16: 33,636,211 (GRCm39) Q565R probably damaging Het
Nlrp6 T C 7: 140,507,353 (GRCm39) V873A possibly damaging Het
Nup155 C T 15: 8,145,926 (GRCm39) P159L possibly damaging Het
Or10v1 A T 19: 11,873,898 (GRCm39) H171L probably benign Het
Or4m1 A T 14: 50,557,573 (GRCm39) S240T probably damaging Het
Or51a6 T C 7: 102,604,887 (GRCm39) probably null Het
Phip T G 9: 82,772,203 (GRCm39) M1115L probably benign Het
Ppip5k1 T C 2: 121,142,390 (GRCm39) Q1353R probably damaging Het
Ptprb C G 10: 116,205,333 (GRCm39) P1896A probably benign Het
Rgl2 T C 17: 34,154,799 (GRCm39) L601P possibly damaging Het
Sash1 C T 10: 8,656,328 (GRCm39) W221* probably null Het
Skint1 A C 4: 111,876,399 (GRCm39) T107P probably damaging Het
Slc45a4 G A 15: 73,477,621 (GRCm39) probably benign Het
Snx13 T A 12: 35,150,624 (GRCm39) D309E probably benign Het
Tep1 A T 14: 51,064,308 (GRCm39) Y2434N possibly damaging Het
Tnpo3 T C 6: 29,568,990 (GRCm39) E454G possibly damaging Het
Tsg101 G T 7: 46,563,183 (GRCm39) Q24K probably benign Het
Ttc6 C T 12: 57,735,353 (GRCm39) R1132W probably damaging Het
Unkl T C 17: 25,437,627 (GRCm39) S200P probably damaging Het
Uts2r G A 11: 121,052,234 (GRCm39) S366N probably benign Het
Wbp4 A T 14: 79,709,845 (GRCm39) V130E probably damaging Het
Zfp592 T G 7: 80,674,469 (GRCm39) S478A probably benign Het
Zfp664 A T 5: 124,962,839 (GRCm39) K78* probably null Het
Zfp738 A T 13: 67,821,110 (GRCm39) L79* probably null Het
Zfyve28 C T 5: 34,382,326 (GRCm39) R258Q probably damaging Het
Other mutations in Spcs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01941:Spcs1 APN 14 30,722,829 (GRCm39) missense probably damaging 0.98
R5140:Spcs1 UTSW 14 30,722,570 (GRCm39) missense probably benign 0.00
R5359:Spcs1 UTSW 14 30,722,074 (GRCm39) missense probably damaging 0.99
R7178:Spcs1 UTSW 14 30,722,438 (GRCm39) missense possibly damaging 0.50
R7761:Spcs1 UTSW 14 30,723,607 (GRCm39) start gained probably benign
R8237:Spcs1 UTSW 14 30,722,658 (GRCm39) missense noncoding transcript
R8377:Spcs1 UTSW 14 30,722,103 (GRCm39) missense possibly damaging 0.95
R8487:Spcs1 UTSW 14 30,722,721 (GRCm39) missense probably benign 0.25
X0022:Spcs1 UTSW 14 30,723,342 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTATGTAGCGCAGGCCATCG -3'
(R):5'- TCCCTAGGATTACAAGGGGCAG -3'

Sequencing Primer
(F):5'- GGCCATCGGACACAACTTAACATTC -3'
(R):5'- GAACAGATGTTTCAGGGGATCATTC -3'
Posted On 2019-12-20