Incidental Mutation 'R0070:Ssmem1'
ID 64452
Institutional Source Beutler Lab
Gene Symbol Ssmem1
Ensembl Gene ENSMUSG00000029784
Gene Name serine-rich single-pass membrane protein 1
Synonyms 1700016K02Rik, 1700025E21Rik
MMRRC Submission 038361-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R0070 (G1)
Quality Score 119
Status Validated
Chromosome 6
Chromosomal Location 30509848-30520253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30519420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 35 (E35G)
Ref Sequence ENSEMBL: ENSMUSP00000031797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031797] [ENSMUST00000031798] [ENSMUST00000131485]
AlphaFold Q9D9Y8
Predicted Effect possibly damaging
Transcript: ENSMUST00000031797
AA Change: E35G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031797
Gene: ENSMUSG00000029784
AA Change: E35G

DomainStartEndE-ValueType
Pfam:DUF4636 1 195 3.5e-100 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000031798
AA Change: E83G

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031798
Gene: ENSMUSG00000029784
AA Change: E83G

DomainStartEndE-ValueType
Pfam:DUF4636 1 243 1e-144 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131485
AA Change: E26G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122018
Gene: ENSMUSG00000029784
AA Change: E26G

DomainStartEndE-ValueType
Pfam:DUF4636 1 67 4.2e-32 PFAM
Meta Mutation Damage Score 0.0803 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 56,109,154 (GRCm39) I387T probably damaging Het
Alpi A G 1: 87,028,881 (GRCm39) probably benign Het
Ankfn1 A T 11: 89,283,128 (GRCm39) L173Q probably damaging Het
Atp2a1 T C 7: 126,046,624 (GRCm39) E892G probably benign Het
AU018091 T C 7: 3,208,738 (GRCm39) probably null Het
Capn12 T C 7: 28,588,551 (GRCm39) probably benign Het
Capn2 C A 1: 182,301,434 (GRCm39) probably benign Het
Cd79b A G 11: 106,202,744 (GRCm39) probably benign Het
Cdh20 C T 1: 110,026,102 (GRCm39) A446V probably benign Het
Ciapin1 T C 8: 95,551,847 (GRCm39) N246S possibly damaging Het
Cmip T A 8: 118,153,293 (GRCm39) I270N probably damaging Het
Cyp2d40 A G 15: 82,644,975 (GRCm39) V225A unknown Het
Dnah9 A G 11: 66,050,866 (GRCm39) V142A probably benign Het
Dnai4 A T 4: 102,917,131 (GRCm39) I571K probably damaging Het
Flt3 A G 5: 147,309,536 (GRCm39) probably benign Het
Gm10238 A G 15: 75,109,434 (GRCm39) noncoding transcript Het
Gm4787 T A 12: 81,425,840 (GRCm39) D106V probably damaging Het
Hipk2 G A 6: 38,795,919 (GRCm39) R117* probably null Het
Hycc1 T C 5: 24,169,997 (GRCm39) S451G probably damaging Het
Ifna11 A G 4: 88,738,512 (GRCm39) D106G possibly damaging Het
Igkv1-115 G A 6: 68,138,402 (GRCm39) V2I probably benign Het
Itga6 T C 2: 71,657,060 (GRCm39) probably benign Het
Kcnj6 C A 16: 94,742,056 (GRCm39) K5N probably benign Het
Kcnt1 T C 2: 25,782,374 (GRCm39) V191A probably benign Het
Lcorl G A 5: 45,891,043 (GRCm39) R437C probably damaging Het
Man2a1 G A 17: 64,966,074 (GRCm39) probably null Het
Map3k14 T A 11: 103,130,380 (GRCm39) probably null Het
Mtch1 T A 17: 29,559,033 (GRCm39) probably benign Het
Myo1c A G 11: 75,551,076 (GRCm39) N217S probably benign Het
Or2h15 A G 17: 38,441,780 (GRCm39) L101P probably damaging Het
Or2w4 T C 13: 21,795,431 (GRCm39) K236R possibly damaging Het
Orm3 A G 4: 63,274,883 (GRCm39) T64A probably benign Het
Phf20l1 T G 15: 66,511,840 (GRCm39) W940G probably damaging Het
Phldb1 C T 9: 44,619,201 (GRCm39) R844H probably damaging Het
Piezo2 T C 18: 63,235,155 (GRCm39) D814G probably damaging Het
Pkd2 T C 5: 104,614,856 (GRCm39) C233R probably damaging Het
Prkd3 A G 17: 79,261,939 (GRCm39) Y792H probably damaging Het
Pth1r A T 9: 110,556,618 (GRCm39) probably null Het
Pxdn T C 12: 30,032,726 (GRCm39) L146S probably damaging Het
Rnf32 A G 5: 29,430,125 (GRCm39) T315A probably benign Het
Rpl5 T C 5: 108,049,766 (GRCm39) Y12H probably benign Het
Serpinh1 A T 7: 98,998,521 (GRCm39) S36R probably damaging Het
Setx A T 2: 29,051,537 (GRCm39) T2030S probably benign Het
Sf3a3 G A 4: 124,608,748 (GRCm39) V21I probably benign Het
Sin3b T A 8: 73,452,210 (GRCm39) H105Q probably damaging Het
Slitrk1 T C 14: 109,150,749 (GRCm39) probably benign Het
Slx4 A T 16: 3,805,880 (GRCm39) D557E possibly damaging Het
Sprr3 C T 3: 92,364,609 (GRCm39) M78I probably benign Het
Stag1 C T 9: 100,838,461 (GRCm39) P1238S probably null Het
Stra6 C T 9: 58,059,898 (GRCm39) probably benign Het
Tmem127 T C 2: 127,098,979 (GRCm39) V171A probably damaging Het
Tmem150a A G 6: 72,335,742 (GRCm39) probably null Het
Top2a C G 11: 98,905,886 (GRCm39) probably null Het
Ttn T C 2: 76,644,771 (GRCm39) probably null Het
Tusc3 G A 8: 39,530,421 (GRCm39) G129R possibly damaging Het
Uspl1 A G 5: 149,146,515 (GRCm39) Y422C probably damaging Het
Vmn2r88 A T 14: 51,651,597 (GRCm39) T312S probably benign Het
Zc3hav1l A T 6: 38,272,125 (GRCm39) S215T probably damaging Het
Zfp947 T A 17: 22,365,165 (GRCm39) T170S probably benign Het
Other mutations in Ssmem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02391:Ssmem1 APN 6 30,512,441 (GRCm39) missense possibly damaging 0.85
R0110:Ssmem1 UTSW 6 30,519,547 (GRCm39) splice site probably null
R0469:Ssmem1 UTSW 6 30,519,547 (GRCm39) splice site probably null
R0510:Ssmem1 UTSW 6 30,519,547 (GRCm39) splice site probably null
R1544:Ssmem1 UTSW 6 30,519,650 (GRCm39) missense probably damaging 1.00
R1629:Ssmem1 UTSW 6 30,512,491 (GRCm39) missense possibly damaging 0.93
R1656:Ssmem1 UTSW 6 30,517,507 (GRCm39) missense probably damaging 1.00
R2351:Ssmem1 UTSW 6 30,512,495 (GRCm39) missense possibly damaging 0.71
R4713:Ssmem1 UTSW 6 30,519,513 (GRCm39) missense probably damaging 0.99
R6301:Ssmem1 UTSW 6 30,519,758 (GRCm39) missense probably damaging 0.99
R9740:Ssmem1 UTSW 6 30,512,454 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- GTTTCCCTACCTTGGTAACAACTGGC -3'
(R):5'- ATTCACCCGGAGGAACTGGGAATG -3'

Sequencing Primer
(F):5'- acacacctttaatcccagcac -3'
(R):5'- CTGTGGAAACTTGGTTCTGC -3'
Posted On 2013-08-06