Incidental Mutation 'R2894:Tmem126b'
ID260700
Institutional Source Beutler Lab
Gene Symbol Tmem126b
Ensembl Gene ENSMUSG00000030614
Gene Nametransmembrane protein 126B
Synonyms
MMRRC Submission 040482-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #R2894 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location90467438-90476001 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 90470913 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 83 (S83R)
Ref Sequence ENSEMBL: ENSMUSP00000032843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032843]
Predicted Effect probably damaging
Transcript: ENSMUST00000032843
AA Change: S83R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032843
Gene: ENSMUSG00000030614
AA Change: S83R

DomainStartEndE-ValueType
Pfam:DUF1370 51 228 2.9e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123622
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,580,386 A115T probably benign Het
Acox3 A G 5: 35,599,848 I344V probably benign Het
Ank2 T C 3: 127,248,243 probably null Het
Ccl4 C A 11: 83,663,503 probably null Het
Cdh15 G A 8: 122,856,635 R59H probably benign Het
Cdk5rap2 T C 4: 70,289,873 K779E probably benign Het
Cenpu C A 8: 46,576,349 N212K probably damaging Het
Dcun1d2 A T 8: 13,278,649 I86N probably damaging Het
Dnah1 T A 14: 31,298,761 E1217V possibly damaging Het
Dusp15 T C 2: 152,949,085 I31V probably benign Het
Ern2 A C 7: 122,181,587 S114A possibly damaging Het
F11 A G 8: 45,248,638 S353P probably damaging Het
Fmo6 C T 1: 162,922,724 W254* probably null Het
Gm16494 T C 17: 47,016,706 E84G unknown Het
Kdr A G 5: 75,946,836 F1016L probably damaging Het
Lrrc37a G A 11: 103,497,864 T2245I unknown Het
Mdga1 T C 17: 29,852,504 Y381C probably damaging Het
Msh3 G T 13: 92,342,360 A367D probably benign Het
Nadk A G 4: 155,587,360 N232S possibly damaging Het
Olfr558 A G 7: 102,709,675 T139A probably damaging Het
Olfr847 A T 9: 19,375,292 Y196* probably null Het
Per2 C A 1: 91,445,603 Q154H probably damaging Het
Pik3ap1 G A 19: 41,376,061 A73V probably benign Het
Pramef25 A T 4: 143,949,122 M378K probably damaging Het
Rad18 G A 6: 112,675,773 Q288* probably null Het
Rarb T C 14: 16,435,146 D300G probably damaging Het
Ruvbl1 C T 6: 88,479,132 R63W possibly damaging Het
Setdb2 T C 14: 59,426,467 N77S probably benign Het
Slc22a19 C A 19: 7,692,804 K228N probably benign Het
Thoc6 A G 17: 23,669,035 S292P probably damaging Het
Tmem232 C T 17: 65,450,413 E262K probably damaging Het
Vmn2r60 T C 7: 42,135,796 V144A probably benign Het
Vpreb3 C T 10: 75,943,222 probably benign Het
Vwa8 A G 14: 79,038,138 N787S probably damaging Het
Other mutations in Tmem126b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Tmem126b APN 7 90469061 missense probably damaging 0.96
R1661:Tmem126b UTSW 7 90475971 missense probably damaging 1.00
R1665:Tmem126b UTSW 7 90475971 missense probably damaging 1.00
R1911:Tmem126b UTSW 7 90469159 missense possibly damaging 0.89
R4519:Tmem126b UTSW 7 90469108 missense probably damaging 1.00
R5098:Tmem126b UTSW 7 90469642 missense probably damaging 1.00
R5425:Tmem126b UTSW 7 90470947 missense probably benign 0.06
R5750:Tmem126b UTSW 7 90469657 missense probably damaging 0.99
R7493:Tmem126b UTSW 7 90472646 missense probably benign 0.03
R8038:Tmem126b UTSW 7 90469622 missense probably benign 0.41
R8250:Tmem126b UTSW 7 90469109 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GACTACTGTGTAGAGCAAACCAAG -3'
(R):5'- ACAGGCTAACCATGTGAAAATAGC -3'

Sequencing Primer
(F):5'- CGATGGTAGCCAAAACTG -3'
(R):5'- CTGGGTAAACATGGGACT -3'
Posted On2015-01-23