Incidental Mutation 'IGL02191:Tmem144'
ID283859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem144
Ensembl Gene ENSMUSG00000027956
Gene Nametransmembrane protein 144
Synonyms5730537D05Rik, 1110057I03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL02191
Quality Score
Status
Chromosome3
Chromosomal Location79812564-79852773 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 79826852 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 181 (D181E)
Ref Sequence ENSEMBL: ENSMUSP00000127837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029568] [ENSMUST00000168038]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029568
AA Change: D181E

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029568
Gene: ENSMUSG00000027956
AA Change: D181E

DomainStartEndE-ValueType
Pfam:DUF1632 11 266 3.7e-107 PFAM
Pfam:Sugar_transport 238 348 3.6e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168038
AA Change: D181E

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127837
Gene: ENSMUSG00000027956
AA Change: D181E

DomainStartEndE-ValueType
Pfam:TMEM144 9 347 9.1e-142 PFAM
Pfam:Sugar_transport 238 348 4.9e-13 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,174,109 I642V probably benign Het
Adam5 G A 8: 24,812,423 R185* probably null Het
C2 T C 17: 34,866,563 I122V probably damaging Het
Camsap1 A G 2: 25,929,880 I1531T probably damaging Het
Celsr1 T C 15: 85,979,004 T1276A possibly damaging Het
Cnot7 A T 8: 40,510,027 N35K probably benign Het
Cyp2a12 A G 7: 27,036,611 I482V probably benign Het
Cyp3a57 A G 5: 145,365,685 E97G probably damaging Het
Cyp51 C A 5: 4,100,147 R192I probably benign Het
Ddx59 T C 1: 136,417,158 L189P probably damaging Het
Dnah6 A G 6: 73,017,797 I4127T probably benign Het
Dock3 C T 9: 106,938,141 V1217I probably benign Het
Ergic2 T C 6: 148,204,821 D57G probably null Het
Flvcr2 A T 12: 85,786,192 K329* probably null Het
Foxp1 T C 6: 98,945,600 S327G probably damaging Het
Gen1 A C 12: 11,242,296 H562Q probably benign Het
Gjc2 A G 11: 59,177,560 V32A probably damaging Het
Grk4 C T 5: 34,755,189 H574Y probably benign Het
Kif15 T A 9: 122,975,679 C93S probably damaging Het
Lrtm1 A C 14: 29,021,949 I125L probably benign Het
Mrgprb8 A G 7: 48,388,779 Y66C probably damaging Het
Pfn1 G A 11: 70,654,383 A33V probably damaging Het
Scnn1b A C 7: 121,917,513 K492Q probably damaging Het
Slc22a29 G A 19: 8,218,681 probably benign Het
Spocd1 A G 4: 129,953,587 D523G probably damaging Het
Tmem220 G A 11: 67,031,107 C101Y probably damaging Het
Tmpo A G 10: 91,161,879 V682A probably benign Het
Wdr93 A G 7: 79,749,220 K34R probably damaging Het
Zdhhc16 C A 19: 41,937,691 C8* probably null Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Tmem144
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Tmem144 APN 3 79839167 missense probably benign 0.19
IGL01924:Tmem144 APN 3 79839194 missense probably damaging 1.00
IGL02080:Tmem144 APN 3 79822759 splice site probably benign
IGL02880:Tmem144 APN 3 79827622 missense probably benign 0.00
PIT4486001:Tmem144 UTSW 3 79826867 missense probably benign 0.00
R0080:Tmem144 UTSW 3 79839273 start gained probably benign
R0081:Tmem144 UTSW 3 79839273 start gained probably benign
R0164:Tmem144 UTSW 3 79839273 start gained probably benign
R0172:Tmem144 UTSW 3 79839273 start gained probably benign
R0173:Tmem144 UTSW 3 79839273 start gained probably benign
R0284:Tmem144 UTSW 3 79839273 start gained probably benign
R0285:Tmem144 UTSW 3 79839273 start gained probably benign
R0288:Tmem144 UTSW 3 79839273 start gained probably benign
R0445:Tmem144 UTSW 3 79825354 missense probably benign 0.01
R0549:Tmem144 UTSW 3 79822744 missense probably damaging 1.00
R0687:Tmem144 UTSW 3 79839273 start gained probably benign
R1720:Tmem144 UTSW 3 79825299 missense probably damaging 1.00
R1748:Tmem144 UTSW 3 79825287 missense probably damaging 0.99
R1937:Tmem144 UTSW 3 79825304 missense probably damaging 0.99
R1955:Tmem144 UTSW 3 79826857 missense probably benign 0.13
R1978:Tmem144 UTSW 3 79825400 splice site probably null
R2025:Tmem144 UTSW 3 79827711 splice site probably null
R5241:Tmem144 UTSW 3 79814124 missense probably benign 0.13
R6674:Tmem144 UTSW 3 79839183 missense possibly damaging 0.91
R6862:Tmem144 UTSW 3 79832099 missense probably benign
R7536:Tmem144 UTSW 3 79827657 missense probably benign
Posted On2015-04-16