Incidental Mutation 'R0393:Tmem5'
Institutional Source Beutler Lab
Gene Symbol Tmem5
Ensembl Gene ENSMUSG00000034620
Gene Nametransmembrane protein 5
MMRRC Submission 038599-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0393 (G1)
Quality Score225
Status Validated
Chromosomal Location122078114-122097371 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 122095936 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038772] [ENSMUST00000140299]
Predicted Effect probably benign
Transcript: ENSMUST00000038772
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135083
Predicted Effect probably benign
Transcript: ENSMUST00000140299
SMART Domains Protein: ENSMUSP00000119308
Gene: ENSMUSG00000034620

transmembrane domain 7 29 N/A INTRINSIC
low complexity region 40 59 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141057
Meta Mutation Damage Score 0.0732 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,645,878 probably benign Het
Akr1b7 T G 6: 34,415,400 Y49* probably null Het
Ankrd10 G T 8: 11,635,482 R46S possibly damaging Het
Atp13a5 A G 16: 29,266,929 probably benign Het
Baz1a A G 12: 54,918,436 probably null Het
Bicd2 C T 13: 49,379,870 T644M probably damaging Het
Ccr9 A T 9: 123,779,970 H239L probably benign Het
Cd180 A T 13: 102,705,900 N485Y probably damaging Het
Ces1d T A 8: 93,192,772 S131C probably damaging Het
Cnpy2 T A 10: 128,326,207 S116R probably benign Het
Crym T C 7: 120,189,749 K285R probably benign Het
Cyp2a4 A T 7: 26,312,868 I359F possibly damaging Het
Cyp2b10 T A 7: 25,914,934 probably benign Het
Dcpp3 A T 17: 23,917,951 probably benign Het
Dnah8 T A 17: 30,708,390 I1340K probably benign Het
Fbln1 T C 15: 85,227,076 C144R probably damaging Het
Gm1553 T C 10: 82,492,176 R66G unknown Het
Il10rb G A 16: 91,412,010 V103I probably benign Het
Irak1bp1 T A 9: 82,846,561 W182R probably benign Het
Kcna3 T C 3: 107,036,999 S193P probably damaging Het
Kif14 C T 1: 136,482,418 H628Y probably damaging Het
Krt31 A G 11: 100,050,253 L77P probably damaging Het
Krt36 C T 11: 100,104,114 A211T possibly damaging Het
L3mbtl2 C T 15: 81,668,741 A125V probably damaging Het
Lmo7 A G 14: 101,900,456 T743A probably benign Het
Lyst C T 13: 13,647,079 T1346M probably benign Het
Mapkbp1 T A 2: 120,012,903 probably null Het
Mif T C 10: 75,859,804 D55G probably benign Het
Mlh3 G T 12: 85,267,587 C608* probably null Het
Mlip A T 9: 77,239,577 C85S probably benign Het
Mug1 T C 6: 121,849,850 S211P possibly damaging Het
Mybl2 T A 2: 163,061,608 probably benign Het
Myh8 C T 11: 67,306,017 probably benign Het
Nanos1 A G 19: 60,756,930 Y222C probably damaging Het
Olfr1113 A T 2: 87,213,693 Y267F probably benign Het
Olfr1155 T C 2: 87,943,565 D21G possibly damaging Het
Olfr138 G T 17: 38,274,883 M37I probably benign Het
Papolb A G 5: 142,529,456 V144A probably damaging Het
Pctp A G 11: 89,986,119 S185P probably benign Het
Plod1 A T 4: 147,918,841 L509Q probably null Het
Ppp1r13b C A 12: 111,835,688 M290I probably benign Het
Ralb G C 1: 119,478,126 probably null Het
Slc4a8 T A 15: 100,774,638 D18E probably damaging Het
Speg A C 1: 75,423,924 H2576P possibly damaging Het
Spock1 T C 13: 57,440,536 D241G probably damaging Het
Tcam1 T A 11: 106,284,214 V165E probably benign Het
Thbs1 T A 2: 118,112,991 V30E possibly damaging Het
Tll2 A G 19: 41,088,826 Y834H possibly damaging Het
Trpm6 G A 19: 18,778,644 D84N probably damaging Het
Ubr1 T A 2: 120,906,946 Q1039L probably damaging Het
Ubr4 A G 4: 139,410,860 probably benign Het
Vmn1r74 T C 7: 11,847,315 Y181H possibly damaging Het
Vmn2r13 T C 5: 109,156,529 T679A probably benign Het
Vmn2r91 A T 17: 18,105,450 Y110F probably damaging Het
Zbtb40 A C 4: 137,018,531 S64A probably benign Het
Zfp184 T A 13: 21,947,082 probably benign Het
Other mutations in Tmem5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02170:Tmem5 APN 10 122094643 missense probably damaging 0.98
R1130:Tmem5 UTSW 10 122095942 missense possibly damaging 0.46
R1521:Tmem5 UTSW 10 122090479 missense probably damaging 0.99
R1757:Tmem5 UTSW 10 122089015 missense probably benign
R3806:Tmem5 UTSW 10 122081609 missense possibly damaging 0.93
R6633:Tmem5 UTSW 10 122097053 missense probably damaging 0.98
R7237:Tmem5 UTSW 10 122081618 nonsense probably null
R7261:Tmem5 UTSW 10 122088917 missense probably benign 0.07
R7522:Tmem5 UTSW 10 122081439 missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- ttaaacaaagtctacattgaattgcc -3'
Posted On2013-04-24