Incidental Mutation 'R0057:Tmem175'
ID17118
Institutional Source Beutler Lab
Gene Symbol Tmem175
Ensembl Gene ENSMUSG00000013495
Gene Nametransmembrane protein 175
Synonyms3010001K23Rik
MMRRC Submission 038351-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #R0057 (G1)
Quality Score
Status Validated
Chromosome5
Chromosomal Location108629770-108648782 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 108639562 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 92 (H92Y)
Ref Sequence ENSEMBL: ENSMUSP00000143596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063272] [ENSMUST00000078323] [ENSMUST00000120327] [ENSMUST00000146207]
Predicted Effect probably damaging
Transcript: ENSMUST00000063272
AA Change: H92Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068607
Gene: ENSMUSG00000013495
AA Change: H92Y

DomainStartEndE-ValueType
Pfam:DUF1211 31 121 7.3e-28 PFAM
transmembrane domain 135 157 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
Pfam:DUF1211 256 353 4.4e-36 PFAM
transmembrane domain 373 395 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 450 472 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000078323
AA Change: H92Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077437
Gene: ENSMUSG00000013495
AA Change: H92Y

DomainStartEndE-ValueType
Pfam:DUF1211 31 121 7.3e-28 PFAM
transmembrane domain 135 157 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
Pfam:DUF1211 256 353 4.4e-36 PFAM
transmembrane domain 373 395 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 450 472 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120327
AA Change: H92Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112780
Gene: ENSMUSG00000013495
AA Change: H92Y

DomainStartEndE-ValueType
Pfam:DUF1211 32 121 1.5e-22 PFAM
transmembrane domain 135 157 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
Pfam:DUF1211 257 353 9.5e-27 PFAM
transmembrane domain 373 395 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 450 472 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000146207
AA Change: H92Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143596
Gene: ENSMUSG00000013495
AA Change: H92Y

DomainStartEndE-ValueType
Pfam:DUF1211 32 121 5.4e-23 PFAM
transmembrane domain 137 159 N/A INTRINSIC
transmembrane domain 185 207 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200485
Meta Mutation Damage Score 0.8828 question?
Coding Region Coverage
  • 1x: 90.1%
  • 3x: 87.8%
  • 10x: 82.7%
  • 20x: 75.7%
Validation Efficiency 89% (65/73)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,941,559 F1309L possibly damaging Het
Abcc6 C T 7: 46,020,143 A163T probably benign Het
Adam23 T A 1: 63,570,919 H693Q probably damaging Het
Afg3l2 A G 18: 67,423,086 F392L probably damaging Het
Ak9 A T 10: 41,392,728 T1055S probably benign Het
Ap5z1 T C 5: 142,470,389 probably benign Het
Arhgef10l A G 4: 140,611,218 probably benign Het
Bloc1s6 T A 2: 122,744,221 probably benign Het
Caskin1 A G 17: 24,504,896 N886S probably damaging Het
Celsr1 A C 15: 86,030,762 S1003R probably benign Het
Ctse G T 1: 131,663,371 D97Y probably damaging Het
Cux1 T A 5: 136,256,282 I505F probably damaging Het
Dcaf11 T C 14: 55,569,310 V490A probably benign Het
Dscam A C 16: 96,673,736 W1209G probably damaging Het
Emc8 A G 8: 120,659,083 probably benign Het
Entpd6 A G 2: 150,758,828 K152R probably null Het
Eps8l2 C T 7: 141,342,971 T49I probably benign Het
Fuk C T 8: 110,893,768 probably benign Het
Gm12251 C A 11: 58,393,041 probably benign Het
Gna11 A G 10: 81,530,940 M312T probably benign Het
Hacd2 T A 16: 35,075,627 V105D probably damaging Het
Il17a T A 1: 20,733,657 I92N probably damaging Het
Ino80 G A 2: 119,382,960 R1249C probably damaging Het
Irak4 A C 15: 94,553,872 R115S probably benign Het
Jarid2 C T 13: 44,884,856 H77Y probably damaging Het
Kcnk6 A T 7: 29,225,663 L176Q probably damaging Het
Kmt2b A T 7: 30,576,792 probably benign Het
Kremen2 A C 17: 23,743,228 I210S possibly damaging Het
Ldah T C 12: 8,238,432 probably benign Het
Lgals9 A T 11: 78,971,436 probably benign Het
Mfsd13a C T 19: 46,366,504 T40I probably benign Het
Msh4 C T 3: 153,869,681 A686T probably benign Het
Mycbp2 T C 14: 103,152,142 N3411D probably damaging Het
Myt1l A G 12: 29,842,612 probably null Het
Nmbr A G 10: 14,760,524 N79S probably damaging Het
Npsr1 A T 9: 24,300,427 I84F probably damaging Het
Olfr1022 C A 2: 85,869,253 Y220* probably null Het
Olfr1346 T C 7: 6,474,680 L190P probably damaging Het
Olfr648 G T 7: 104,180,329 H26Q probably benign Het
Prlr A G 15: 10,328,423 Y328C probably damaging Het
Rasal3 A G 17: 32,391,383 S977P probably benign Het
Ros1 C T 10: 52,180,191 V68I probably benign Het
RP24-170A20.3 T A 10: 39,891,097 probably benign Het
Shmt2 G A 10: 127,521,048 T31M possibly damaging Het
Snapc1 C T 12: 73,975,032 R81C probably damaging Het
Snrnp200 C G 2: 127,237,907 L1899V probably damaging Het
Snrnp48 T A 13: 38,216,380 C154* probably null Het
Tdrd6 G A 17: 43,617,161 probably benign Het
Tom1l1 G A 11: 90,685,149 probably benign Het
Top3a C T 11: 60,740,684 A951T probably benign Het
Tram2 C T 1: 21,006,154 R184Q probably damaging Het
Trpc4ap T C 2: 155,640,486 E528G possibly damaging Het
Vwa7 G A 17: 35,024,547 S710N possibly damaging Het
Zfa-ps A T 10: 52,545,106 noncoding transcript Het
Zfp770 T A 2: 114,197,232 R119* probably null Het
Other mutations in Tmem175
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Tmem175 APN 5 108645866 missense probably benign 0.00
IGL02034:Tmem175 APN 5 108642136 missense probably damaging 1.00
R0057:Tmem175 UTSW 5 108639562 missense probably damaging 1.00
R2294:Tmem175 UTSW 5 108638659 splice site probably benign
R4576:Tmem175 UTSW 5 108644602 missense possibly damaging 0.83
R4707:Tmem175 UTSW 5 108642150 missense probably damaging 0.99
R5063:Tmem175 UTSW 5 108646432 missense probably damaging 0.99
R6248:Tmem175 UTSW 5 108645955 missense probably damaging 0.99
R6864:Tmem175 UTSW 5 108645979 missense probably damaging 1.00
R6950:Tmem175 UTSW 5 108643082 missense probably benign 0.02
R7562:Tmem175 UTSW 5 108641849 missense probably damaging 0.99
R7648:Tmem175 UTSW 5 108644566 missense possibly damaging 0.54
Posted On2013-01-20