Incidental Mutation 'R4713:Ssmem1'
ID353360
Institutional Source Beutler Lab
Gene Symbol Ssmem1
Ensembl Gene ENSMUSG00000029784
Gene Nameserine-rich single-pass membrane protein 1
Synonyms1700025E21Rik, 1700016K02Rik
MMRRC Submission 041601-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #R4713 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location30509849-30520254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30519514 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 66 (D66G)
Ref Sequence ENSEMBL: ENSMUSP00000031797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031797] [ENSMUST00000031798] [ENSMUST00000131485]
Predicted Effect probably damaging
Transcript: ENSMUST00000031797
AA Change: D66G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031797
Gene: ENSMUSG00000029784
AA Change: D66G

DomainStartEndE-ValueType
Pfam:DUF4636 1 195 3.5e-100 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000031798
AA Change: D114G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031798
Gene: ENSMUSG00000029784
AA Change: D114G

DomainStartEndE-ValueType
Pfam:DUF4636 1 243 1e-144 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131485
AA Change: D57G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122018
Gene: ENSMUSG00000029784
AA Change: D57G

DomainStartEndE-ValueType
Pfam:DUF4636 1 67 4.2e-32 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,547,532 T360K probably damaging Het
AW551984 T C 9: 39,597,153 K356E probably benign Het
Bpifb2 T A 2: 153,881,193 V123E probably damaging Het
Cacna1a T G 8: 84,549,514 F532V probably damaging Het
Cct8 C A 16: 87,487,688 E204* probably null Het
Cd163 T A 6: 124,317,618 probably null Het
Cep152 C A 2: 125,587,948 A685S possibly damaging Het
Chdh A G 14: 30,036,841 D581G probably benign Het
Cnpy3 A C 17: 46,747,465 Y77* probably null Het
Col5a3 T C 9: 20,793,574 E762G unknown Het
Creb3 A G 4: 43,563,247 T115A probably benign Het
Dlat G T 9: 50,644,481 A412E probably benign Het
Dnah2 T C 11: 69,476,688 N1789S probably damaging Het
Dzank1 C T 2: 144,491,804 E370K probably benign Het
Eif3m A T 2: 105,006,839 probably null Het
Gimap8 A T 6: 48,658,986 M562L probably benign Het
Gm15448 G T 7: 3,822,681 Y396* probably null Het
Gprc6a T A 10: 51,631,457 probably benign Het
Gsr T G 8: 33,680,319 probably null Het
Gstcd A G 3: 132,983,099 V630A probably damaging Het
Hip1r T C 5: 123,989,980 I116T probably benign Het
Hivep3 A G 4: 120,131,803 E1817G probably damaging Het
Inpp5f A C 7: 128,663,725 T135P probably damaging Het
Ism2 A G 12: 87,285,027 silent Het
Itga11 A G 9: 62,765,788 D784G probably damaging Het
Itpr2 A G 6: 146,373,173 F837S probably damaging Het
Itpr2 T C 6: 146,396,958 E10G probably damaging Het
Knl1 A T 2: 119,069,137 K440* probably null Het
Lonp2 T C 8: 86,713,315 S648P probably damaging Het
Lrba T C 3: 86,359,868 S1622P probably benign Het
Lrp2 G T 2: 69,487,966 A2047D probably damaging Het
Mcm3 G A 1: 20,803,577 T773I probably benign Het
Mfsd7a T C 5: 108,442,079 T486A probably damaging Het
Mki67 A G 7: 135,695,469 V2612A probably benign Het
Mnx1 C A 5: 29,478,131 G49W probably damaging Het
Muc5b T A 7: 141,849,079 Y673* probably null Het
Myo15 A G 11: 60,479,930 H1172R probably benign Het
Myo1g T C 11: 6,516,080 K363R probably null Het
Ncoa4 T A 14: 32,176,641 C473S probably benign Het
Nefh T C 11: 4,939,656 T988A unknown Het
Nwd2 T A 5: 63,804,460 D462E probably benign Het
Olfr332 T C 11: 58,490,087 T223A probably benign Het
Plec T C 15: 76,181,067 E1466G unknown Het
Prl3d2 G T 13: 27,122,396 M35I probably benign Het
Reln T A 5: 22,152,463 I202F probably benign Het
Rhot1 T A 11: 80,225,602 D78E probably benign Het
Rsph3b T C 17: 6,905,129 probably null Het
Scn10a C T 9: 119,609,651 M1717I probably damaging Het
Sema6a T A 18: 47,249,296 H728L possibly damaging Het
Slc26a3 G T 12: 31,457,080 A345S possibly damaging Het
Slc35d2 A G 13: 64,099,283 V261A possibly damaging Het
Sult2a8 A T 7: 14,425,477 N72K probably benign Het
Tbx10 T C 19: 3,996,921 L108P probably damaging Het
Tex14 T C 11: 87,536,865 S48P probably damaging Het
Tmie A G 9: 110,867,528 L95P probably damaging Het
Tom1l2 C G 11: 60,270,433 R84P probably damaging Het
Trpm3 T A 19: 22,889,435 D543E possibly damaging Het
Vipr2 A C 12: 116,080,131 R49S probably benign Het
Vps8 A T 16: 21,442,439 S110C probably damaging Het
Zfp791 T A 8: 85,110,968 N89I probably damaging Het
Other mutations in Ssmem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02391:Ssmem1 APN 6 30512442 missense possibly damaging 0.85
R0070:Ssmem1 UTSW 6 30519421 missense possibly damaging 0.92
R0110:Ssmem1 UTSW 6 30519548 splice site probably null
R0469:Ssmem1 UTSW 6 30519548 splice site probably null
R0510:Ssmem1 UTSW 6 30519548 splice site probably null
R1544:Ssmem1 UTSW 6 30519651 missense probably damaging 1.00
R1629:Ssmem1 UTSW 6 30512492 missense possibly damaging 0.93
R1656:Ssmem1 UTSW 6 30517508 missense probably damaging 1.00
R2351:Ssmem1 UTSW 6 30512496 missense possibly damaging 0.71
R6301:Ssmem1 UTSW 6 30519759 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTGTCAGCCATGGCCCAATC -3'
(R):5'- AGGTGACAGATGATGGTCGC -3'

Sequencing Primer
(F):5'- CTAGGCTAGCCTTGAACTCATAGAG -3'
(R):5'- ACAGATGATGGTCGCTTTCAC -3'
Posted On2015-10-21