Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02471:Tmem54'

294740

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem54

Ensembl Gene

ENSMUSG00000028786

Gene Name

transmembrane protein 54

Synonyms

1810017F10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02471

Quality Score

Status

Chromosome

Chromosomal Location

128999341-129005419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129002111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 53 (M53V)

Ref Sequence

ENSEMBL: ENSMUSP00000123006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030572] [ENSMUST00000030575] [ENSMUST00000030577] [ENSMUST00000095807] [ENSMUST00000106064] [ENSMUST00000116442] [ENSMUST00000116444] [ENSMUST00000148979] [ENSMUST00000139450] [ENSMUST00000125931] [ENSMUST00000149763] [ENSMUST00000164649]

AlphaFold

Q9D7S1

Predicted Effect

probably benign
Transcript: ENSMUST00000030572

SMART Domains

Protein: ENSMUSP00000030572
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000030575
AA Change: M42V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030575
Gene: ENSMUSG00000028786
AA Change: M42V

Domain	Start	End	E-Value	Type
Pfam:BCLP	18	71	2.8e-23	PFAM
Pfam:BCLP	69	180	1.4e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030577
AA Change: M42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030577
Gene: ENSMUSG00000028786
AA Change: M42V

Domain	Start	End	E-Value	Type
Pfam:BCLP	18	200	5e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095807

SMART Domains

Protein: ENSMUSP00000093486
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106064
AA Change: M42V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101679
Gene: ENSMUSG00000028786
AA Change: M42V

Domain	Start	End	E-Value	Type
Pfam:BCLP	18	199	6.7e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116442

SMART Domains

Protein: ENSMUSP00000112143
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116444

SMART Domains

Protein: ENSMUSP00000112145
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148979
AA Change: M53V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000123006
Gene: ENSMUSG00000028786
AA Change: M53V

Domain	Start	End	E-Value	Type
Pfam:BCLP	29	106	3.2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139450

SMART Domains

Protein: ENSMUSP00000119178
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125931

SMART Domains

Protein: ENSMUSP00000115031
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149763

SMART Domains

Protein: ENSMUSP00000115619
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164649

SMART Domains

Protein: ENSMUSP00000129548
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,297,357 (GRCm39)	H2378N	probably benign	Het
Btaf1	C	A	19: 36,977,592 (GRCm39)	A1470E	probably damaging	Het
Ccdc110	A	G	8: 46,394,793 (GRCm39)	D228G	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cldn18	T	C	9: 99,578,128 (GRCm39)	D205G	probably benign	Het
Clip2	T	C	5: 134,546,876 (GRCm39)	T231A	probably benign	Het
Cltc	A	G	11: 86,608,860 (GRCm39)	V723A	probably damaging	Het
Cpa3	C	T	3: 20,282,971 (GRCm39)		probably null	Het
Cyfip2	T	G	11: 46,091,630 (GRCm39)	T1097P	possibly damaging	Het
Dnah9	T	A	11: 65,838,444 (GRCm39)	R667*	probably null	Het
Dock10	T	C	1: 80,493,339 (GRCm39)	E1878G	probably damaging	Het
Ermap	G	A	4: 119,037,160 (GRCm39)	H353Y	probably damaging	Het
Etfa	A	T	9: 55,393,984 (GRCm39)		probably null	Het
F5	C	T	1: 164,001,860 (GRCm39)	P188S	probably damaging	Het
Foxq1	G	A	13: 31,743,326 (GRCm39)	E143K	possibly damaging	Het
Gsr	C	T	8: 34,172,612 (GRCm39)		probably benign	Het
Hebp1	T	A	6: 135,132,274 (GRCm39)	Y31F	probably benign	Het
Ighv1-14	T	C	12: 114,610,457 (GRCm39)		noncoding transcript	Het
Lamb1	T	A	12: 31,370,907 (GRCm39)	D1319E	probably damaging	Het
Lrp5	A	T	19: 3,652,408 (GRCm39)	V1154E	probably benign	Het
Manba	G	A	3: 135,212,769 (GRCm39)		probably benign	Het
Mknk2	A	T	10: 80,503,955 (GRCm39)	F319I	probably damaging	Het
Mup6	A	T	4: 60,003,971 (GRCm39)		probably benign	Het
Nalcn	T	C	14: 123,560,726 (GRCm39)	T784A	probably benign	Het
Nt5dc1	T	C	10: 34,279,721 (GRCm39)	E107G	probably benign	Het
Or11h6	A	T	14: 50,880,214 (GRCm39)	I159F	probably benign	Het
Or56b34	T	A	7: 104,938,252 (GRCm39)	F317L	probably benign	Het
Or9q2	G	A	19: 13,772,589 (GRCm39)	P129S	probably damaging	Het
Phldb1	T	C	9: 44,622,530 (GRCm39)	E41G	probably damaging	Het
Ptk2	T	C	15: 73,170,036 (GRCm39)	D309G	probably benign	Het
Rab11fip5	A	G	6: 85,325,207 (GRCm39)	S367P	probably damaging	Het
Rb1cc1	T	A	1: 6,310,275 (GRCm39)	N224K	probably benign	Het
Rchy1	A	T	5: 92,105,405 (GRCm39)	C65*	probably null	Het
Rgs18	T	C	1: 144,650,359 (GRCm39)	D56G	probably benign	Het
Rtraf	A	C	14: 19,862,296 (GRCm39)	L197R	probably damaging	Het
Slc44a5	G	T	3: 153,962,213 (GRCm39)	W382L	probably damaging	Het
Snx24	C	T	18: 53,518,241 (GRCm39)		probably benign	Het
Sphkap	T	C	1: 83,253,897 (GRCm39)	D1284G	probably damaging	Het
Trip6	G	A	5: 137,308,618 (GRCm39)	P414S	probably benign	Het
Vmn1r38	A	G	6: 66,753,751 (GRCm39)	Y122H	probably benign	Het
Wapl	T	A	14: 34,413,877 (GRCm39)	N246K	possibly damaging	Het
Zfp12	G	A	5: 143,230,551 (GRCm39)	G293R	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp446	T	G	7: 12,716,181 (GRCm39)	V209G	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Tmem54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02475:Tmem54	APN	4	129,002,073 (GRCm39)	missense	probably damaging	1.00
IGL03107:Tmem54	APN	4	129,004,705 (GRCm39)	missense	probably damaging	1.00
R3804:Tmem54	UTSW	4	129,002,013 (GRCm39)	missense	probably benign	0.01
R4156:Tmem54	UTSW	4	129,004,504 (GRCm39)	missense	probably damaging	1.00
R4157:Tmem54	UTSW	4	129,004,504 (GRCm39)	missense	probably damaging	1.00
R4664:Tmem54	UTSW	4	129,004,704 (GRCm39)	missense	possibly damaging	0.95
R4959:Tmem54	UTSW	4	129,002,073 (GRCm39)	missense	probably damaging	1.00
R6699:Tmem54	UTSW	4	129,005,118 (GRCm39)	missense	probably benign	0.07
R7037:Tmem54	UTSW	4	129,004,594 (GRCm39)	splice site	probably null
R9056:Tmem54	UTSW	4	129,002,120 (GRCm39)	missense	probably benign	0.16

Posted On

2015-04-16