Incidental Mutation 'IGL00672:Smdt1'
ID8416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smdt1
Ensembl Gene ENSMUSG00000022452
Gene Namesingle-pass membrane protein with aspartate rich tail 1
SynonymsEmre, 1500032L24Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00672
Quality Score
Status
Chromosome15
Chromosomal Location82338959-82349091 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 82346183 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 34 (V34I)
Ref Sequence ENSEMBL: ENSMUSP00000125120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023085] [ENSMUST00000023086] [ENSMUST00000050349] [ENSMUST00000159054] [ENSMUST00000160994] [ENSMUST00000161178] [ENSMUST00000161892] [ENSMUST00000229537] [ENSMUST00000230360] [ENSMUST00000230494] [ENSMUST00000230676]
Predicted Effect probably benign
Transcript: ENSMUST00000023085
SMART Domains Protein: ENSMUSP00000023085
Gene: ENSMUSG00000022450

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Complex1_LYR 33 95 8.1e-13 PFAM
Pfam:Complex1_LYR_1 33 97 4.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023086
AA Change: V34I

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023086
Gene: ENSMUSG00000022452
AA Change: V34I

DomainStartEndE-ValueType
Pfam:DDDD 33 107 1.7e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050349
SMART Domains Protein: ENSMUSP00000060598
Gene: ENSMUSG00000049687

DomainStartEndE-ValueType
PH 18 123 1.02e-10 SMART
coiled coil region 128 150 N/A INTRINSIC
Blast:PH 192 242 1e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083025
Predicted Effect probably benign
Transcript: ENSMUST00000159054
SMART Domains Protein: ENSMUSP00000125429
Gene: ENSMUSG00000022452

DomainStartEndE-ValueType
Pfam:DDDD 8 70 1.9e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159942
Predicted Effect probably benign
Transcript: ENSMUST00000160994
Predicted Effect probably benign
Transcript: ENSMUST00000161178
SMART Domains Protein: ENSMUSP00000124703
Gene: ENSMUSG00000049687

DomainStartEndE-ValueType
PH 18 123 1.02e-10 SMART
coiled coil region 128 150 N/A INTRINSIC
Blast:PH 192 242 1e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000161892
AA Change: V34I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229427
Predicted Effect probably benign
Transcript: ENSMUST00000229537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230165
Predicted Effect probably benign
Transcript: ENSMUST00000230360
AA Change: V34I

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000230494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230589
Predicted Effect probably benign
Transcript: ENSMUST00000230676
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,746,436 probably benign Het
Adamts20 A G 15: 94,341,105 I744T probably damaging Het
Akap11 G A 14: 78,511,341 A1202V probably damaging Het
C130032M10Rik A G 9: 114,515,830 V340A probably damaging Het
Csnk1g1 G T 9: 66,007,746 S229I probably damaging Het
E130308A19Rik A G 4: 59,719,697 S410G probably benign Het
Eif2s2 T A 2: 154,887,709 I98L probably benign Het
En1 T C 1: 120,606,938 F319L unknown Het
Fmnl3 A T 15: 99,325,681 Y345N probably damaging Het
Fras1 T C 5: 96,759,450 probably benign Het
Gm12695 A G 4: 96,749,182 L366P probably damaging Het
Golga3 T C 5: 110,212,244 L1156S probably damaging Het
Gpcpd1 G T 2: 132,530,548 probably benign Het
Hvcn1 C A 5: 122,238,471 F155L probably benign Het
Jcad T C 18: 4,674,835 S866P possibly damaging Het
Kdm4c A G 4: 74,343,514 N642S probably benign Het
Kif2c T C 4: 117,178,246 I2V probably benign Het
Klri2 T A 6: 129,733,071 I189F probably damaging Het
Lair1 T A 7: 4,028,731 T126S probably benign Het
Lins1 A T 7: 66,714,531 K725* probably null Het
Lman2l T A 1: 36,438,834 probably null Het
Map3k10 T C 7: 27,661,601 K496E probably damaging Het
Nr2f2 A G 7: 70,357,766 S170P possibly damaging Het
Polr1b G A 2: 129,125,472 M928I probably damaging Het
Rffl G A 11: 82,818,484 P38S probably damaging Het
Rtl1 T C 12: 109,593,000 S802G probably benign Het
Sema5a A G 15: 32,618,880 E518G probably benign Het
Ssr3 C A 3: 65,391,410 A59S probably benign Het
Stk4 A G 2: 164,118,079 K59E probably benign Het
Syne2 C T 12: 76,064,184 T1024M probably damaging Het
Taf5 A T 19: 47,082,301 D723V probably damaging Het
Tescl T C 7: 24,333,610 T97A probably benign Het
Thada A T 17: 84,444,218 S443R probably benign Het
Trp53bp2 A T 1: 182,440,976 H205L probably benign Het
Ube4b A G 4: 149,381,366 V209A probably benign Het
Zfp957 G T 14: 79,213,398 D320E unknown Het
Zfr2 T C 10: 81,242,085 S249P probably damaging Het
Zmpste24 A G 4: 121,065,860 I386T probably damaging Het
Other mutations in Smdt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Smdt1 APN 15 82347893 unclassified probably benign
R1485:Smdt1 UTSW 15 82346232 missense probably benign 0.10
R1542:Smdt1 UTSW 15 82346175 missense possibly damaging 0.46
R5503:Smdt1 UTSW 15 82347900 missense possibly damaging 0.66
R6316:Smdt1 UTSW 15 82348009 missense probably damaging 1.00
Posted On2012-12-06