Mutagenetix > Incidental Mutation

Incidental Mutation 'R6699:Tmem54'

528678

Institutional Source

Beutler Lab

Gene Symbol

Tmem54

Ensembl Gene

ENSMUSG00000028786

Gene Name

transmembrane protein 54

Synonyms

1810017F10Rik

MMRRC Submission

044817-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6699 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128999341-129005419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129005118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 199 (I199M)

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 benign
Transcript: ENSMUST00000030575

SMART Domains

Protein: ENSMUSP00000030575
Gene: ENSMUSG00000028786

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

SMART Domains

Protein: ENSMUSP00000030577
Gene: ENSMUSG00000028786

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: I199M

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101679
Gene: ENSMUSG00000028786
AA Change: I199M

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	A	G	8: 41,279,694 (GRCm39)	K695R	probably benign	Het
Agfg1	G	A	1: 82,836,175 (GRCm39)		probably null	Het
Ankrd44	G	A	1: 54,801,604 (GRCm39)	T241I	probably damaging	Het
Car15	T	C	16: 17,654,438 (GRCm39)	D166G	probably null	Het
Cpne2	G	A	8: 95,290,587 (GRCm39)	V391M	probably damaging	Het
Ddx27	C	T	2: 166,862,423 (GRCm39)	T155I	possibly damaging	Het
F830045P16Rik	T	C	2: 129,302,341 (GRCm39)	D417G	probably damaging	Het
Fam217b	T	G	2: 178,062,210 (GRCm39)	M58R	probably benign	Het
Fcgbpl1	A	G	7: 27,843,793 (GRCm39)	T894A	probably damaging	Het
Ftmt	T	C	18: 52,464,737 (GRCm39)	S18P	possibly damaging	Het
Gm16494	C	T	17: 47,327,834 (GRCm39)	V17M	probably damaging	Het
Gm36864	A	T	7: 43,888,196 (GRCm39)	I342F	possibly damaging	Het
Grid2	C	G	6: 63,908,031 (GRCm39)	R224G	possibly damaging	Het
H4c12	A	T	13: 21,934,674 (GRCm39)	M1K	probably null	Het
Hmgcr	T	C	13: 96,796,717 (GRCm39)	E191G	probably damaging	Het
Hrc	A	G	7: 44,985,119 (GRCm39)	D90G	possibly damaging	Het
Kbtbd7	A	G	14: 79,665,632 (GRCm39)	E488G	probably benign	Het
Krtap26-1	T	C	16: 88,444,603 (GRCm39)	N6S	unknown	Het
Mgat2	A	G	12: 69,231,555 (GRCm39)	D43G	probably damaging	Het
Mrps30	A	T	13: 118,517,134 (GRCm39)	S362T	probably damaging	Het
Or10ag58	A	T	2: 87,265,160 (GRCm39)	I110F	probably benign	Het
Or2t43	T	A	11: 58,458,031 (GRCm39)	I47L	possibly damaging	Het
Pcdhb11	T	A	18: 37,555,990 (GRCm39)	V440E	probably damaging	Het
Pcdhb18	T	A	18: 37,625,005 (GRCm39)	H778Q	probably benign	Het
Plekha7	T	C	7: 115,734,410 (GRCm39)	E1025G	probably damaging	Het
Rnf39	T	C	17: 37,258,121 (GRCm39)	W96R	probably damaging	Het
Rph3al	A	T	11: 75,791,663 (GRCm39)		probably benign	Het
Rrm1	T	A	7: 102,110,032 (GRCm39)	Y556N	probably damaging	Het
Saal1	A	T	7: 46,342,241 (GRCm39)	C401S	probably damaging	Het
Sec14l3	T	C	11: 4,025,193 (GRCm39)	S268P	possibly damaging	Het
Tomm70a	A	G	16: 56,963,165 (GRCm39)	M395V	probably benign	Het
Topors	A	G	4: 40,262,300 (GRCm39)	V328A	probably damaging	Het
Vmn2r61	T	G	7: 41,949,580 (GRCm39)	S667A	probably benign	Het
Vmn2r68	G	A	7: 84,881,583 (GRCm39)	A499V	possibly damaging	Het
Zcchc14	A	T	8: 122,335,355 (GRCm39)		probably benign	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
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
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'- TGAGGAGAAGCACTGGTCTTTG -3'
(R):5'- ACGTCCCCAGTAGTCCATTG -3'

Sequencing Primer
(F):5'- TCTTTGGGGATTATACAGGAGACAG -3'
(R):5'- CATGGGCGTGCTCTAGGAATC -3'

Posted On

2018-07-24