Incidental Mutation 'R1741:Tmem248'
ID 200340
Institutional Source Beutler Lab
Gene Symbol Tmem248
Ensembl Gene ENSMUSG00000053094
Gene Name transmembrane protein 248
Synonyms
MMRRC Submission 039773-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R1741 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 130217081-130243765 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130236823 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 156 (I156V)
Ref Sequence ENSEMBL: ENSMUSP00000106929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065329] [ENSMUST00000111298] [ENSMUST00000200802] [ENSMUST00000202305]
AlphaFold Q3TBN1
Predicted Effect probably benign
Transcript: ENSMUST00000065329
AA Change: I156V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000067501
Gene: ENSMUSG00000053094
AA Change: I156V

DomainStartEndE-ValueType
Pfam:TMEM219 10 258 1.7e-97 PFAM
transmembrane domain 268 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111298
AA Change: I156V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106929
Gene: ENSMUSG00000053094
AA Change: I156V

DomainStartEndE-ValueType
Pfam:TMEM219 10 257 1.8e-86 PFAM
transmembrane domain 268 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200802
SMART Domains Protein: ENSMUSP00000144363
Gene: ENSMUSG00000053094

DomainStartEndE-ValueType
Pfam:TMEM219 10 105 1e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202305
SMART Domains Protein: ENSMUSP00000144452
Gene: ENSMUSG00000053094

DomainStartEndE-ValueType
Pfam:TMEM219 10 149 3.1e-45 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik A G 18: 52,660,506 N37S probably damaging Het
9530053A07Rik G T 7: 28,157,854 C2209F probably damaging Het
Acad10 T C 5: 121,647,836 K230R probably damaging Het
Actl7a A G 4: 56,744,252 N260D probably benign Het
Adam24 T C 8: 40,679,603 Y37H probably benign Het
Ahcy G A 2: 155,064,234 A229V probably benign Het
Ap3b2 A G 7: 81,467,599 V563A possibly damaging Het
Bcl9l T A 9: 44,509,689 M1427K probably damaging Het
Btf3 C T 13: 98,316,296 M1I probably null Het
Btg4 A T 9: 51,116,610 I27L probably benign Het
Ccdc171 A G 4: 83,620,839 Y366C probably damaging Het
Chd3 A G 11: 69,355,654 Y1085H probably damaging Het
Cnot10 T C 9: 114,597,824 D616G possibly damaging Het
Crlf1 C A 8: 70,500,906 D243E probably damaging Het
Cyp2b23 A G 7: 26,673,077 V371A possibly damaging Het
Dennd2a A G 6: 39,493,157 S534P probably damaging Het
Eln A G 5: 134,729,184 V185A unknown Het
Epor C T 9: 21,959,771 G301D probably damaging Het
Fam83f T G 15: 80,692,267 V373G possibly damaging Het
Fbxl21 A T 13: 56,537,102 T340S probably benign Het
Fez1 T A 9: 36,843,733 D9E probably damaging Het
Fsip2 T C 2: 82,989,912 F5330L probably benign Het
Glis1 G A 4: 107,568,347 R197Q probably damaging Het
Gm10277 TC T 11: 77,786,002 probably null Het
Gpr158 A G 2: 21,827,548 N1153S probably benign Het
Gramd4 T C 15: 86,091,529 probably null Het
Hhatl T A 9: 121,789,059 Y210F possibly damaging Het
Hltf T C 3: 20,086,188 W422R probably damaging Het
Hspa5 T C 2: 34,772,692 S87P possibly damaging Het
Il21 T C 3: 37,227,662 H111R probably benign Het
Ip6k1 G A 9: 108,040,984 G73S probably benign Het
Kdm5b A G 1: 134,618,017 D972G possibly damaging Het
Kif21b C T 1: 136,156,142 A709V probably damaging Het
Kmt2d T C 15: 98,845,234 probably benign Het
Lrrc14b A G 13: 74,363,586 L125P probably damaging Het
Mapk8ip3 A G 17: 24,899,854 S1169P probably damaging Het
Me3 A T 7: 89,851,833 Y584F probably damaging Het
Mxra7 T G 11: 116,816,244 probably null Het
Nf1 T C 11: 79,443,931 S870P probably benign Het
Npr2 G A 4: 43,643,350 G525S probably damaging Het
Nyap1 A T 5: 137,733,125 S726T probably damaging Het
Padi4 A G 4: 140,746,170 V652A probably damaging Het
Pclo A G 5: 14,676,510 probably benign Het
Pgm2 G A 4: 99,964,865 probably null Het
Piezo2 A G 18: 63,021,173 S2512P probably damaging Het
Ptbp3 A T 4: 59,482,624 D386E probably damaging Het
Ptk2 A G 15: 73,242,406 V701A possibly damaging Het
Ptpn3 A G 4: 57,254,922 V154A probably damaging Het
Rassf4 T C 6: 116,639,489 E287G probably damaging Het
Rnh1 C T 7: 141,164,023 R174H probably benign Het
Scn9a T A 2: 66,487,594 I1517F probably damaging Het
Sftpb C A 6: 72,305,813 A90E probably benign Het
Slc39a14 T C 14: 70,318,744 K61R probably damaging Het
Tmem132d A C 5: 127,784,858 M733R probably benign Het
Traf2 T C 2: 25,524,483 D339G probably damaging Het
Trappc11 A G 8: 47,529,327 probably null Het
Tuba8 T A 6: 121,222,768 I137N possibly damaging Het
Txlnb A G 10: 17,838,947 T376A probably damaging Het
Usp34 A G 11: 23,364,103 T663A probably benign Het
Vmn2r26 T A 6: 124,061,472 F669I probably damaging Het
Wdr95 G A 5: 149,595,396 probably null Het
Wfdc8 T G 2: 164,608,869 probably benign Het
Zfp64 A C 2: 168,926,318 V458G probably benign Het
Zfp868 C T 8: 69,611,868 G272D probably damaging Het
Other mutations in Tmem248
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1509:Tmem248 UTSW 5 130229454 start gained probably benign
R1782:Tmem248 UTSW 5 130231928 missense probably damaging 1.00
R2014:Tmem248 UTSW 5 130231812 missense probably damaging 1.00
R2197:Tmem248 UTSW 5 130231756 missense probably benign 0.31
R2423:Tmem248 UTSW 5 130229562 missense probably damaging 1.00
R4657:Tmem248 UTSW 5 130231774 missense probably damaging 1.00
R4748:Tmem248 UTSW 5 130236890 missense probably benign 0.32
R5151:Tmem248 UTSW 5 130240397 missense probably damaging 1.00
R5719:Tmem248 UTSW 5 130229588 missense probably damaging 1.00
R5931:Tmem248 UTSW 5 130229508 missense probably damaging 0.99
R6332:Tmem248 UTSW 5 130229469 start codon destroyed probably null 0.97
R9146:Tmem248 UTSW 5 130232010 missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- TCCTAGCCCCAACTGAAAAGTAGGAG -3'
(R):5'- CAGGCACATCTGTTTATGGAGGAGAAG -3'

Sequencing Primer
(F):5'- TAGGAGCCTTCTGTGGACAC -3'
(R):5'- gccaccaagcccaacac -3'
Posted On 2014-05-23