Incidental Mutation 'IGL02391:Ssmem1'
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ID293849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssmem1
Ensembl Gene ENSMUSG00000029784
Gene Nameserine-rich single-pass membrane protein 1
Synonyms1700025E21Rik, 1700016K02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL02391
Quality Score
Status
Chromosome6
Chromosomal Location30509849-30520254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30512442 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 28 (E28G)
Ref Sequence ENSEMBL: ENSMUSP00000031798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031797] [ENSMUST00000031798] [ENSMUST00000064330] [ENSMUST00000102991] [ENSMUST00000115157] [ENSMUST00000115160] [ENSMUST00000131485] [ENSMUST00000138823] [ENSMUST00000148638] [ENSMUST00000151187] [ENSMUST00000154547]
Predicted Effect probably benign
Transcript: ENSMUST00000031797
SMART Domains Protein: ENSMUSP00000031797
Gene: ENSMUSG00000029784

DomainStartEndE-ValueType
Pfam:DUF4636 1 195 3.5e-100 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000031798
AA Change: E28G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031798
Gene: ENSMUSG00000029784
AA Change: E28G

DomainStartEndE-ValueType
Pfam:DUF4636 1 243 1e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064330
SMART Domains Protein: ENSMUSP00000067667
Gene: ENSMUSG00000029782

DomainStartEndE-ValueType
Pfam:CytochromB561_N 5 343 4.1e-88 PFAM
Pfam:CytochromB561_N 341 438 2.2e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102991
SMART Domains Protein: ENSMUSP00000100056
Gene: ENSMUSG00000029782

DomainStartEndE-ValueType
Pfam:CytochromB561_N 5 376 5.2e-107 PFAM
Pfam:CytochromB561_N 372 519 3.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115157
SMART Domains Protein: ENSMUSP00000110810
Gene: ENSMUSG00000029782

DomainStartEndE-ValueType
Pfam:CytochromB561_N 4 560 4.8e-209 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115160
SMART Domains Protein: ENSMUSP00000110813
Gene: ENSMUSG00000029782

DomainStartEndE-ValueType
Pfam:CytochromB561_N 6 560 6.4e-159 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131485
SMART Domains Protein: ENSMUSP00000122018
Gene: ENSMUSG00000029784

DomainStartEndE-ValueType
Pfam:DUF4636 1 67 4.2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138823
SMART Domains Protein: ENSMUSP00000138292
Gene: ENSMUSG00000029782

DomainStartEndE-ValueType
Pfam:CytochromB561_N 5 560 1.2e-205 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148638
SMART Domains Protein: ENSMUSP00000115567
Gene: ENSMUSG00000029782

DomainStartEndE-ValueType
Pfam:CytochromB561_N 4 71 1.3e-15 PFAM
Pfam:CytochromB561_N 67 139 1.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150480
Predicted Effect probably benign
Transcript: ENSMUST00000151187
SMART Domains Protein: ENSMUSP00000138232
Gene: ENSMUSG00000029782

DomainStartEndE-ValueType
Pfam:CytochromB561_N 1 403 1.5e-160 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154547
SMART Domains Protein: ENSMUSP00000145248
Gene: ENSMUSG00000029782

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,553,352 N748Y probably damaging Het
Actbl2 A G 13: 111,255,167 D12G possibly damaging Het
Adamts10 T C 17: 33,528,811 S74P probably benign Het
Adprhl2 C T 4: 126,317,908 probably benign Het
Amn1 A G 6: 149,169,446 probably null Het
Antxr1 A T 6: 87,287,056 I144N probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cabp5 A T 7: 13,398,344 R13* probably null Het
Cacna1e A G 1: 154,421,113 Y1669H probably damaging Het
Ccdc174 A G 6: 91,898,282 E364G possibly damaging Het
Ccdc18 C T 5: 108,136,052 P74S probably damaging Het
Clec3a C T 8: 114,425,500 S82L probably benign Het
Cnih3 A G 1: 181,406,513 D43G probably damaging Het
Dpp10 G A 1: 123,650,358 T128M probably damaging Het
Edar A T 10: 58,628,581 F79I probably damaging Het
Eif2ak4 T A 2: 118,420,791 H199Q probably benign Het
Fermt1 A G 2: 132,941,951 L46P probably damaging Het
Glipr1 A G 10: 111,988,894 probably benign Het
Gsdmc T C 15: 63,803,579 N129S probably damaging Het
Ift88 T C 14: 57,481,414 S619P possibly damaging Het
Itga9 T A 9: 118,850,805 V262E probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mta1 T A 12: 113,136,583 I688N possibly damaging Het
Muc4 A T 16: 32,752,076 R651S probably benign Het
Olfr109 C T 17: 37,466,586 P127S probably damaging Het
Olfr1342 A G 4: 118,690,341 L37P probably damaging Het
Olfr824 A G 10: 130,126,904 V51A possibly damaging Het
Opcml A G 9: 28,675,264 I93V probably damaging Het
Parg T G 14: 32,262,681 probably null Het
Rps3a3 A G 13: 108,670,883 probably benign Het
Safb T A 17: 56,600,813 probably benign Het
Sat2 G T 11: 69,622,749 C54F probably damaging Het
Scin T A 12: 40,077,531 Y420F probably benign Het
Slc22a29 A T 19: 8,169,353 S362T probably benign Het
Smchd1 T C 17: 71,431,259 D537G probably null Het
Spred3 A G 7: 29,166,405 S126P probably benign Het
Ssh1 C T 5: 113,942,517 E951K probably damaging Het
Stox1 A T 10: 62,659,676 probably benign Het
Syn3 T C 10: 86,064,906 I373V probably benign Het
Tecrl A T 5: 83,354,827 F58L probably benign Het
Trp53bp1 T C 2: 121,202,710 N1655S possibly damaging Het
Usp2 G T 9: 44,091,227 Q147H probably damaging Het
Usp24 T A 4: 106,407,129 N1751K possibly damaging Het
Wipf1 T A 2: 73,434,143 D438V probably damaging Het
Other mutations in Ssmem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4713:Ssmem1 UTSW 6 30519514 missense probably damaging 0.99
R6301:Ssmem1 UTSW 6 30519759 missense probably damaging 0.99
Posted On2015-04-16