Incidental Mutation 'IGL00594:Tmem144'
ID6862
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: 0.148) question?
Stock #IGL00594
Quality Score
Status
Chromosome3
Chromosomal Location79812564-79852773 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79839167 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 27 (V27A)
Ref Sequence ENSEMBL: ENSMUSP00000141832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029568] [ENSMUST00000168038] [ENSMUST00000192341] [ENSMUST00000193410]
Predicted Effect probably benign
Transcript: ENSMUST00000029568
AA Change: V27A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029568
Gene: ENSMUSG00000027956
AA Change: V27A

DomainStartEndE-ValueType
Pfam:DUF1632 11 266 3.7e-107 PFAM
Pfam:Sugar_transport 238 348 3.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104273
Predicted Effect probably benign
Transcript: ENSMUST00000168038
AA Change: V27A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000127837
Gene: ENSMUSG00000027956
AA Change: V27A

DomainStartEndE-ValueType
Pfam:TMEM144 9 347 9.1e-142 PFAM
Pfam:Sugar_transport 238 348 4.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192341
AA Change: V27A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000193410
AA Change: V27A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000141832
Gene: ENSMUSG00000027956
AA Change: V27A

DomainStartEndE-ValueType
Pfam:DUF1632 11 137 7.3e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194338
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 193,174,801 T154A probably benign Het
Acox1 A G 11: 116,174,505 probably benign Het
Adgrg2 G A X: 160,485,777 V677I probably benign Het
Aifm1 T C X: 48,482,099 T386A probably benign Het
Aspm T C 1: 139,487,422 probably benign Het
Fgfr2 A G 7: 130,228,723 V175A probably damaging Het
Gm14781 C T X: 91,635,485 Q348* probably null Het
Gm382 T C X: 127,063,152 Y987H probably benign Het
Golga3 A T 5: 110,204,975 M911L probably benign Het
Hmgxb3 A G 18: 61,157,739 V354A probably benign Het
Ifne T C 4: 88,879,804 N126D probably benign Het
Igkv3-7 T C 6: 70,607,823 V49A possibly damaging Het
Kbtbd8 A T 6: 95,126,513 Y381F probably damaging Het
Klc1 C T 12: 111,776,884 T215M probably damaging Het
Lrp2 A T 2: 69,486,280 V2119E probably benign Het
Lrrc7 A G 3: 158,187,010 V322A probably benign Het
Ms4a14 A G 19: 11,301,619 S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 Y168C probably damaging Het
Plcg2 C T 8: 117,556,071 T97I possibly damaging Het
Rasgrp4 T C 7: 29,148,541 probably benign Het
Rgs22 T C 15: 36,083,631 H515R probably benign Het
Rpn1 G T 6: 88,095,629 R318L probably damaging Het
Shroom2 A T X: 152,613,516 F1359Y probably damaging Het
Tarsl2 T A 7: 65,676,132 probably null Het
Tbc1d12 A G 19: 38,896,043 E346G possibly damaging Het
Tbccd1 A G 16: 22,822,544 F361S possibly damaging Het
Tenm1 G T X: 42,715,036 P837T probably benign Het
Zfp616 T A 11: 74,082,963 N19K possibly damaging Het
Zkscan7 T C 9: 122,895,594 Y543H possibly damaging Het
Other mutations in Tmem144
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01924:Tmem144 APN 3 79839194 missense probably damaging 1.00
IGL02080:Tmem144 APN 3 79822759 splice site probably benign
IGL02191:Tmem144 APN 3 79826852 missense possibly damaging 0.59
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
Posted On2012-04-20