Incidental Mutation 'R9775:Smim8'
ID 733625
Institutional Source Beutler Lab
Gene Symbol Smim8
Ensembl Gene ENSMUSG00000028295
Gene Name small integral membrane protein 8
Synonyms 1810030N24Rik, 2810406B13Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9775 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 34768664-34778398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34769068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 72 (E72G)
Ref Sequence ENSEMBL: ENSMUSP00000029972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029972] [ENSMUST00000108131] [ENSMUST00000108132] [ENSMUST00000108133] [ENSMUST00000108134]
AlphaFold Q9CQQ0
Predicted Effect probably damaging
Transcript: ENSMUST00000029972
AA Change: E72G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029972
Gene: ENSMUSG00000028295
AA Change: E72G

DomainStartEndE-ValueType
Pfam:DUF4500 15 96 8.3e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108131
AA Change: E72G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103766
Gene: ENSMUSG00000028295
AA Change: E72G

DomainStartEndE-ValueType
Pfam:DUF4500 10 96 1.1e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108132
AA Change: E72G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103767
Gene: ENSMUSG00000028295
AA Change: E72G

DomainStartEndE-ValueType
Pfam:DUF4500 10 96 1.1e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108133
AA Change: E72G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103768
Gene: ENSMUSG00000028295
AA Change: E72G

DomainStartEndE-ValueType
Pfam:DUF4500 10 96 1.1e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108134
AA Change: E72G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103769
Gene: ENSMUSG00000028295
AA Change: E72G

DomainStartEndE-ValueType
Pfam:DUF4500 10 96 1.1e-43 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik T G 5: 113,861,765 (GRCm39) Q35P unknown Het
Angptl2 G A 2: 33,118,230 (GRCm39) M1I probably null Het
Bptf T C 11: 106,934,502 (GRCm39) E223G probably benign Het
C2cd3 T A 7: 100,076,458 (GRCm39) I805N Het
Cep152 G A 2: 125,423,660 (GRCm39) Q914* probably null Het
Clasp2 A G 9: 113,725,740 (GRCm39) T794A probably benign Het
Cntnap2 A G 6: 47,026,261 (GRCm39) Y970C probably damaging Het
Ddx11 G T 17: 66,445,157 (GRCm39) V360L probably damaging Het
Fer1l6 G A 15: 58,497,098 (GRCm39) V1223I probably benign Het
Fez2 A T 17: 78,708,183 (GRCm39) I255N probably damaging Het
Gata3 A G 2: 9,863,197 (GRCm39) V439A possibly damaging Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Kcnj9 T A 1: 172,153,741 (GRCm39) I128F probably damaging Het
Klhdc2 A G 12: 69,350,393 (GRCm39) D146G probably damaging Het
Klra6 T A 6: 129,999,639 (GRCm39) R110W probably damaging Het
Ldha A T 7: 46,491,047 (GRCm39) probably benign Het
Lingo2 C A 4: 35,708,781 (GRCm39) A400S probably benign Het
Lrrd1 A T 5: 3,899,897 (GRCm39) R67S probably benign Het
Mapk6 C T 9: 75,295,668 (GRCm39) C610Y possibly damaging Het
Mia3 G A 1: 183,109,125 (GRCm39) R656* probably null Het
Myoz2 T C 3: 122,807,399 (GRCm39) E137G probably damaging Het
Nemp2 T A 1: 52,680,064 (GRCm39) I96N probably damaging Het
Npy1r A G 8: 67,157,742 (GRCm39) M351V possibly damaging Het
Nsg2 G A 11: 32,005,029 (GRCm39) S77N possibly damaging Het
Or10ag53 A G 2: 87,082,568 (GRCm39) M96V probably damaging Het
Or5ac17 T A 16: 59,036,069 (GRCm39) R302S possibly damaging Het
Or6c5c T C 10: 129,298,677 (GRCm39) I44T probably benign Het
Osbpl9 G A 4: 109,013,747 (GRCm39) probably benign Het
Pcolce2 G A 9: 95,520,797 (GRCm39) C58Y probably damaging Het
Piezo1 A G 8: 123,208,927 (GRCm39) F2480L probably damaging Het
Pip5k1c T A 10: 81,147,853 (GRCm39) D419E probably damaging Het
Plppr1 A T 4: 49,323,435 (GRCm39) T242S probably benign Het
Ppp1r13b A C 12: 111,803,457 (GRCm39) S254A possibly damaging Het
Pramel17 A G 4: 101,694,244 (GRCm39) M213T probably benign Het
Ripk3 A G 14: 56,023,252 (GRCm39) L151S unknown Het
Scmh1 A T 4: 120,340,820 (GRCm39) M169L probably benign Het
Serpinb9d A T 13: 33,382,007 (GRCm39) R159W probably damaging Het
Slc26a9 A G 1: 131,690,970 (GRCm39) R583G possibly damaging Het
Sned1 A G 1: 93,199,604 (GRCm39) N511S probably damaging Het
Srprb A C 9: 103,078,490 (GRCm39) V80G probably benign Het
Ssx2ip G A 3: 146,136,808 (GRCm39) S352N probably benign Het
Tbccd1 A G 16: 22,652,666 (GRCm39) S152P probably damaging Het
Tenm4 T C 7: 96,555,761 (GRCm39) I2822T possibly damaging Het
Tff1 A G 17: 31,383,972 (GRCm39) V8A probably benign Het
Tmem132b T A 5: 125,864,566 (GRCm39) S891T probably benign Het
Tmem200c T A 17: 69,149,118 (GRCm39) V567D probably damaging Het
Trim3 G A 7: 105,260,377 (GRCm39) T708M probably damaging Het
Ttn T C 2: 76,544,927 (GRCm39) N32725S possibly damaging Het
Ubash3b T G 9: 40,926,214 (GRCm39) E633A possibly damaging Het
Usp4 A G 9: 108,239,780 (GRCm39) R170G probably damaging Het
Wdr33 T A 18: 32,037,406 (GRCm39) L1222Q unknown Het
Zfhx2 A G 14: 55,304,562 (GRCm39) S1141P probably benign Het
Other mutations in Smim8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Smim8 APN 4 34,769,006 (GRCm39) missense probably benign 0.03
R1959:Smim8 UTSW 4 34,771,316 (GRCm39) missense probably damaging 1.00
R5702:Smim8 UTSW 4 34,771,261 (GRCm39) small deletion probably benign
R5783:Smim8 UTSW 4 34,771,261 (GRCm39) small deletion probably benign
R5800:Smim8 UTSW 4 34,771,261 (GRCm39) small deletion probably benign
R5818:Smim8 UTSW 4 34,771,261 (GRCm39) small deletion probably benign
R5819:Smim8 UTSW 4 34,771,261 (GRCm39) small deletion probably benign
R5821:Smim8 UTSW 4 34,771,261 (GRCm39) small deletion probably benign
R5821:Smim8 UTSW 4 34,771,259 (GRCm39) small deletion probably benign
R5915:Smim8 UTSW 4 34,769,010 (GRCm39) small deletion probably benign
R8913:Smim8 UTSW 4 34,769,056 (GRCm39) missense possibly damaging 0.50
R9762:Smim8 UTSW 4 34,771,265 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAGACTAAACTCACCACAGTG -3'
(R):5'- AGAATGCTGGGGTGGTAATC -3'

Sequencing Primer
(F):5'- GAGACTAAACTCACCACAGTGGACTG -3'
(R):5'- GGTAATCATGGCTTGTCATGC -3'
Posted On 2022-11-14