Incidental Mutation 'R5490:Tmem241'
ID432063
Institutional Source Beutler Lab
Gene Symbol Tmem241
Ensembl Gene ENSMUSG00000049411
Gene Nametransmembrane protein 241
Synonyms6030446N20Rik
MMRRC Submission 043051-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #R5490 (G1)
Quality Score225
Status Not validated
Chromosome18
Chromosomal Location11964450-12121537 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 12043263 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Lysine at position 116 (R116K)
Ref Sequence ENSEMBL: ENSMUSP00000148000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050228] [ENSMUST00000055447] [ENSMUST00000209628] [ENSMUST00000209859] [ENSMUST00000211298]
Predicted Effect probably benign
Transcript: ENSMUST00000050228
SMART Domains Protein: ENSMUSP00000062148
Gene: ENSMUSG00000049411

DomainStartEndE-ValueType
transmembrane domain 119 136 N/A INTRINSIC
transmembrane domain 200 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055447
AA Change: R239K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052001
Gene: ENSMUSG00000049411
AA Change: R239K

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
transmembrane domain 69 91 N/A INTRINSIC
transmembrane domain 121 140 N/A INTRINSIC
transmembrane domain 150 167 N/A INTRINSIC
transmembrane domain 184 201 N/A INTRINSIC
transmembrane domain 214 236 N/A INTRINSIC
transmembrane domain 248 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209628
AA Change: R116K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000209859
AA Change: R239K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211298
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810013L24Rik T A 16: 8,855,857 V216E probably damaging Het
2310035C23Rik T A 1: 105,719,501 V672D probably damaging Het
4933406M09Rik A G 1: 134,389,928 D146G probably damaging Het
Aatf C T 11: 84,510,273 G174D probably damaging Het
Abcc1 G T 16: 14,410,917 G343C probably damaging Het
Asic2 T C 11: 80,889,820 N370S probably benign Het
Btnl9 T C 11: 49,169,568 E451G probably damaging Het
Cblb A G 16: 52,174,370 H658R possibly damaging Het
Cdca2 T C 14: 67,680,284 E555G possibly damaging Het
Chfr A G 5: 110,153,129 S299G possibly damaging Het
Eea1 A G 10: 96,026,054 E741G probably benign Het
Gapvd1 T C 2: 34,693,433 D1057G probably benign Het
Glyat C T 19: 12,650,281 T80M probably benign Het
Gpr87 T C 3: 59,179,326 S253G probably damaging Het
Hmgxb3 A G 18: 61,162,977 S320P probably damaging Het
Kcnq5 C T 1: 21,479,468 G345D probably damaging Het
Kif5c T C 2: 49,758,858 V938A probably benign Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Madd G T 2: 91,170,635 T467K possibly damaging Het
Mamdc4 T C 2: 25,565,878 D706G probably damaging Het
Map2 A G 1: 66,413,133 H476R probably damaging Het
Mpeg1 T C 19: 12,461,693 S172P probably damaging Het
Nkx2-3 A T 19: 43,612,654 T52S probably benign Het
Nup210 C T 6: 91,085,988 V230I probably damaging Het
Olfr1009 G T 2: 85,722,322 A306S probably benign Het
Olfr348 T A 2: 36,787,181 Y219N probably damaging Het
Olfr568 T C 7: 102,877,893 S258P probably damaging Het
Pepd A G 7: 34,942,690 probably null Het
Ppp1r36 T A 12: 76,437,986 W238R probably damaging Het
Ppp1r36 G T 12: 76,437,987 W238L possibly damaging Het
Prpf6 T G 2: 181,608,165 D39E probably benign Het
Rassf5 T A 1: 131,181,195 Q163L possibly damaging Het
Rbm43 T A 2: 51,925,595 T205S probably benign Het
Robo4 CGG CG 9: 37,411,490 probably null Het
Sds C A 5: 120,483,650 Q286K possibly damaging Het
Slc35a3 A T 3: 116,681,190 C184* probably null Het
Smg1 G A 7: 118,139,436 T3530I possibly damaging Het
Sspo T C 6: 48,493,280 V591A probably benign Het
Stam2 T C 2: 52,720,917 D31G probably damaging Het
Star A G 8: 25,809,917 K96E probably damaging Het
Syne3 A G 12: 104,955,672 L495P probably damaging Het
Tceanc2 A T 4: 107,165,649 M47K probably benign Het
Tecpr2 T C 12: 110,914,684 L85P probably damaging Het
Yipf2 G A 9: 21,592,191 A20V probably benign Het
Zc3h4 T A 7: 16,429,005 D443E unknown Het
Zfp184 T A 13: 21,958,577 V151D probably benign Het
Zhx1 T C 15: 58,053,299 Y517C probably damaging Het
Other mutations in Tmem241
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02256:Tmem241 APN 18 12113432 missense probably damaging 1.00
R0106:Tmem241 UTSW 18 12106009 intron probably benign
R1203:Tmem241 UTSW 18 12083978 splice site probably benign
R1218:Tmem241 UTSW 18 12064214 missense probably damaging 1.00
R1304:Tmem241 UTSW 18 12070078 critical splice donor site probably null
R1416:Tmem241 UTSW 18 11993574 missense probably benign 0.00
R1430:Tmem241 UTSW 18 11993594 missense probably benign 0.01
R1539:Tmem241 UTSW 18 12043240 missense possibly damaging 0.92
R1729:Tmem241 UTSW 18 12068312 missense probably damaging 0.99
R1775:Tmem241 UTSW 18 12118412 missense probably damaging 1.00
R3813:Tmem241 UTSW 18 12067110 splice site probably benign
R4352:Tmem241 UTSW 18 12113439 missense probably benign 0.35
R4903:Tmem241 UTSW 18 12104119 missense probably damaging 1.00
R4966:Tmem241 UTSW 18 12104119 missense probably damaging 1.00
R5704:Tmem241 UTSW 18 12064206 missense probably damaging 1.00
R6943:Tmem241 UTSW 18 12047584 missense possibly damaging 0.92
R7037:Tmem241 UTSW 18 12113406 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ATGAATGGCCAGGCATGTG -3'
(R):5'- TGAGAGTGATGGCATCTGC -3'

Sequencing Primer
(F):5'- GGATGCTGAGGTAGACTTTG -3'
(R):5'- ATCTGCCTGTAATCGCGG -3'
Posted On2016-10-05