Mutagenetix > Incidental Mutation

Incidental Mutation 'R4157:Tmem54'

315571

Institutional Source

Beutler Lab

Gene Symbol

Tmem54

Ensembl Gene

ENSMUSG00000028786

Gene Name

transmembrane protein 54

Synonyms

1810017F10Rik

MMRRC Submission

041000-MU

Accession Numbers

Essential gene?

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

Stock #

R4157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128999341-129005419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129004504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 151 (R151Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101679 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000030575
AA Change: R131Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030575
Gene: ENSMUSG00000028786
AA Change: R131Q

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 damaging
Transcript: ENSMUST00000030577
AA Change: R151Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030577
Gene: ENSMUSG00000028786
AA Change: R151Q

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 damaging
Transcript: ENSMUST00000106064
AA Change: R151Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101679
Gene: ENSMUSG00000028786
AA Change: R151Q

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: 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

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: 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: ENSMUST00000148979

SMART Domains

Protein: ENSMUSP00000123006
Gene: ENSMUSG00000028786

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,070,414 (GRCm39)	R585L	probably damaging	Het
Adamtsl5	C	T	10: 80,181,156 (GRCm39)	R75Q	probably null	Het
Ankrd26	T	A	6: 118,484,782 (GRCm39)	Q1485L	probably damaging	Het
Apbb2	G	A	5: 66,459,947 (GRCm39)	R717*	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,365,591 (GRCm39)	E735G	probably damaging	Het
Bcl11b	A	T	12: 107,883,684 (GRCm39)		probably null	Het
C4b	A	G	17: 34,961,829 (GRCm39)	I139T	probably damaging	Het
Ccpg1	C	A	9: 72,919,449 (GRCm39)	Q355K	probably benign	Het
Cdk8	A	T	5: 146,236,259 (GRCm39)		probably benign	Het
Ctif	T	C	18: 75,568,341 (GRCm39)	H599R	probably benign	Het
Degs1	A	G	1: 182,110,192 (GRCm39)	I26T	possibly damaging	Het
Dnajc4	T	C	19: 6,967,208 (GRCm39)	N72S	probably damaging	Het
Ecd	A	G	14: 20,374,632 (GRCm39)	S503P	probably damaging	Het
Gm3486	G	A	14: 41,208,343 (GRCm39)	L123F	probably benign	Het
Inpp5f	C	T	7: 128,281,423 (GRCm39)		probably benign	Het
Irx4	A	T	13: 73,413,662 (GRCm39)	Q44L	probably benign	Het
Krt9	T	A	11: 100,079,475 (GRCm39)	Y639F	unknown	Het
Lgals9	C	A	11: 78,863,933 (GRCm39)	V71L	possibly damaging	Het
Mdga1	T	C	17: 30,052,317 (GRCm39)	N143S	probably benign	Het
Ndufs4	A	T	13: 114,444,390 (GRCm39)	S129R	probably benign	Het
Nup50l	C	G	6: 96,142,264 (GRCm39)	W260S	possibly damaging	Het
Oog2	A	G	4: 143,920,523 (GRCm39)		probably benign	Het
Orm2	T	A	4: 63,282,222 (GRCm39)	F133L	probably null	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pidd1	A	G	7: 141,021,279 (GRCm39)	V333A	possibly damaging	Het
Ppp4r3a	A	G	12: 101,021,878 (GRCm39)	F341L	probably damaging	Het
Rab11fip1	A	T	8: 27,642,175 (GRCm39)	S875T	probably damaging	Het
Rpap1	C	T	2: 119,604,660 (GRCm39)	R416H	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Snx22	T	C	9: 65,975,493 (GRCm39)	Y92C	probably damaging	Het
Srgn	A	G	10: 62,333,613 (GRCm39)	F55L	possibly damaging	Het
Swt1	A	T	1: 151,278,795 (GRCm39)	V454E	probably damaging	Het
Tns1	T	A	1: 73,953,790 (GRCm39)	N1848Y	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top2b	A	G	14: 16,384,491 (GRCm38)	N80S	probably benign	Het
Trim7	T	C	11: 48,738,920 (GRCm39)	V313A	probably benign	Het
Uaca	A	G	9: 60,779,035 (GRCm39)	S1141G	probably benign	Het
Ubr3	T	C	2: 69,790,013 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,597,729 (GRCm39)	V121A	probably benign	Het
Wdr20	G	A	12: 110,704,608 (GRCm39)	R49H	possibly damaging	Het
Ylpm1	T	C	12: 85,104,177 (GRCm39)		probably benign	Het
Zfp398	A	T	6: 47,812,843 (GRCm39)	T5S	probably benign	Het
Zfp410	G	A	12: 84,374,206 (GRCm39)	R181H	probably damaging	Het
Zfp523	C	T	17: 28,421,257 (GRCm39)	A367V	probably benign	Het
Zfp748	G	A	13: 67,690,225 (GRCm39)	S345L	possibly damaging	Het

Other mutations in Tmem54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02471:Tmem54	APN	4	129,002,111 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGCTCTTTCTGCCTAGCG -3'
(R):5'- CTTAGTTCCAGTAGTCCATGCATG -3'

Sequencing Primer
(F):5'- TTCTGCCTAGCGCTGGAC -3'
(R):5'- TCCAGTAGTCCATGCATGAGCTG -3'

Posted On

2015-05-14