Incidental Mutation 'R5530:Tmem246'
ID433623
Institutional Source Beutler Lab
Gene Symbol Tmem246
Ensembl Gene ENSMUSG00000039611
Gene Nametransmembrane protein 246
Synonyms
MMRRC Submission 043088-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #R5530 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location49584506-49597876 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 49586226 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 314 (L314P)
Ref Sequence ENSEMBL: ENSMUSP00000040885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042750] [ENSMUST00000150664] [ENSMUST00000151542]
Predicted Effect probably benign
Transcript: ENSMUST00000042750
AA Change: L314P

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000040885
Gene: ENSMUSG00000039611
AA Change: L314P

DomainStartEndE-ValueType
low complexity region 11 18 N/A INTRINSIC
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 262 280 N/A INTRINSIC
transmembrane domain 287 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150664
SMART Domains Protein: ENSMUSP00000115100
Gene: ENSMUSG00000039611

DomainStartEndE-ValueType
low complexity region 11 18 N/A INTRINSIC
transmembrane domain 20 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151542
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415F23Rik A T 1: 23,101,990 I81N probably damaging Het
Abcb6 A G 1: 75,177,912 probably benign Het
Anapc2 A G 2: 25,284,583 K653E possibly damaging Het
Aplp1 T C 7: 30,436,829 S508G possibly damaging Het
Bend3 T A 10: 43,511,726 V705D probably damaging Het
Btaf1 C A 19: 36,990,775 A1120E possibly damaging Het
Carmil3 T C 14: 55,493,624 V116A probably damaging Het
Cdk5rap3 A T 11: 96,911,633 Y238* probably null Het
Cep170 T C 1: 176,769,510 H427R probably benign Het
Cubn G A 2: 13,308,523 R3079W probably damaging Het
Edc4 G T 8: 105,889,254 E694* probably null Het
Epb41l4b A G 4: 57,086,003 S191P probably damaging Het
Fam189a2 T A 19: 23,975,594 T451S probably benign Het
Fbxo46 T C 7: 19,136,802 Y449H probably damaging Het
Ficd C A 5: 113,738,925 P387Q probably damaging Het
Grin2b T C 6: 135,733,723 T942A probably benign Het
Hoxb1 G C 11: 96,366,928 R228P probably damaging Het
Jmjd1c T C 10: 67,249,762 F2444L probably damaging Het
Kcnj2 T C 11: 111,072,091 F103S probably damaging Het
Mapkbp1 A G 2: 120,015,355 I402V probably benign Het
Mvp A G 7: 126,995,923 V250A probably benign Het
Myo1b T A 1: 51,797,423 N293I probably damaging Het
Npy5r T A 8: 66,680,860 Y427F probably benign Het
Nrd1 C T 4: 109,047,609 T747M probably damaging Het
Nrxn2 C T 19: 6,498,367 P30L possibly damaging Het
Nt5dc3 T C 10: 86,820,993 F332S probably damaging Het
Olfr116 A G 17: 37,623,807 I276T possibly damaging Het
Olfr876 A G 9: 37,804,807 T299A probably benign Het
Optc T G 1: 133,905,090 T91P probably benign Het
Otud7b A T 3: 96,141,488 E92V probably damaging Het
Pla2g4d A G 2: 120,269,555 I677T probably benign Het
Pot1a T C 6: 25,778,894 E67G probably damaging Het
Ppil6 T C 10: 41,507,498 S257P probably damaging Het
Ppp1r14a T C 7: 29,289,366 L11P probably benign Het
Pramef12 A T 4: 144,392,662 M445K probably benign Het
Rad21l A T 2: 151,657,510 I257K probably benign Het
Rbm11 A G 16: 75,592,973 D9G possibly damaging Het
Rhbdf2 T C 11: 116,600,662 Y586C probably damaging Het
Rxfp2 A T 5: 150,056,810 I276F probably damaging Het
Sec14l4 A G 11: 4,046,342 *404W probably null Het
Sec16a A G 2: 26,439,252 V917A probably benign Het
Sec61a2 A T 2: 5,882,650 Y131* probably null Het
Soga1 T A 2: 157,020,342 S1556C probably damaging Het
Sspo A T 6: 48,465,583 Y2004F probably damaging Het
Stab2 T C 10: 86,947,162 E674G probably benign Het
Tmf1 A G 6: 97,158,087 S989P probably damaging Het
Tshz1 T C 18: 84,013,268 D1005G probably damaging Het
Wdr19 T C 5: 65,228,219 S555P probably benign Het
Zdhhc24 T A 19: 4,883,563 probably null Het
Zfp558 A G 9: 18,456,373 M373T probably benign Het
Other mutations in Tmem246
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Tmem246 APN 4 49586860 missense possibly damaging 0.92
IGL02210:Tmem246 APN 4 49586686 missense probably benign
IGL03239:Tmem246 APN 4 49586034 missense probably damaging 0.99
R0344:Tmem246 UTSW 4 49586566 missense probably benign
R1134:Tmem246 UTSW 4 49586832 missense probably benign
R1392:Tmem246 UTSW 4 49586919 missense probably damaging 1.00
R1392:Tmem246 UTSW 4 49586919 missense probably damaging 1.00
R2247:Tmem246 UTSW 4 49586209 missense probably benign 0.05
R2288:Tmem246 UTSW 4 49586445 missense probably damaging 1.00
R4630:Tmem246 UTSW 4 49586254 missense probably benign 0.40
R5939:Tmem246 UTSW 4 49586412 missense probably damaging 0.98
R5955:Tmem246 UTSW 4 49586613 missense probably damaging 1.00
R7009:Tmem246 UTSW 4 49586325 missense probably benign
R7837:Tmem246 UTSW 4 49586262 missense probably damaging 0.96
Z1088:Tmem246 UTSW 4 49587135 missense probably damaging 0.97
Z1177:Tmem246 UTSW 4 49586872 missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- GCAGAGAGTACAGTGCCATG -3'
(R):5'- CACCTCCAAGATGCCCTGTATC -3'

Sequencing Primer
(F):5'- GTACAGTGCCATGTCTTTGCCAAAG -3'
(R):5'- AGATGCCCTGTATCTAAAGCTC -3'
Posted On2016-10-06