Mutagenetix > Incidental Mutation

Incidental Mutation 'R4959:Tmem54'

382136

Institutional Source

Beutler Lab

Gene Symbol

Tmem54

Ensembl Gene

ENSMUSG00000028786

Gene Name

transmembrane protein 54

Synonyms

1810017F10Rik

MMRRC Submission

042556-MU

Accession Numbers

Essential gene?

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

Stock #

R4959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128999341-129005419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129002073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 40 (H40L)

Ref Sequence

ENSEMBL: ENSMUSP00000123006 (fasta)

Gene Model

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

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: H29L

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

SMART Domains

Protein: ENSMUSP00000030575
Gene: ENSMUSG00000028786
AA Change: H29L

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: H29L

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

SMART Domains

Protein: ENSMUSP00000030577
Gene: ENSMUSG00000028786
AA Change: H29L

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: H29L

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

SMART Domains

Protein: ENSMUSP00000101679
Gene: ENSMUSG00000028786
AA Change: H29L

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 damaging
Transcript: ENSMUST00000148979
AA Change: H40L

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

SMART Domains

Protein: ENSMUSP00000123006
Gene: ENSMUSG00000028786
AA Change: H40L

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: 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: 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: 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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.6%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
6820408C15Rik	T	A	2: 152,282,808 (GRCm39)	I221K	possibly damaging	Het
Aadacl3	A	T	4: 144,183,656 (GRCm39)	C136S	probably benign	Het
Abhd16a	T	A	17: 35,321,318 (GRCm39)	S498T	probably benign	Het
Acrv1	G	A	9: 36,605,996 (GRCm39)		probably null	Het
Adamts18	G	A	8: 114,463,357 (GRCm39)	R830*	probably null	Het
Art3	A	G	5: 92,551,478 (GRCm39)	Y279C	probably damaging	Het
Atm	A	T	9: 53,426,601 (GRCm39)	D552E	probably benign	Het
Ccdc154	T	C	17: 25,389,888 (GRCm39)	L508P	probably damaging	Het
Ccser2	A	T	14: 36,662,753 (GRCm39)	S144T	probably benign	Het
Cgn	C	T	3: 94,685,564 (GRCm39)	A320T	probably benign	Het
Cklf	A	G	8: 104,988,184 (GRCm39)	K106E	probably benign	Het
Clec12a	C	A	6: 129,330,628 (GRCm39)	T70K	probably benign	Het
CN725425	G	A	15: 91,129,904 (GRCm39)	A256T	possibly damaging	Het
Crb2	G	T	2: 37,680,482 (GRCm39)	R470L	probably damaging	Het
Csn1s1	T	G	5: 87,821,120 (GRCm39)	S33A	probably benign	Het
D630045J12Rik	C	T	6: 38,125,302 (GRCm39)	V1571M	possibly damaging	Het
Deup1	G	A	9: 15,523,310 (GRCm39)	Q58*	probably null	Het
Dph2	T	A	4: 117,748,527 (GRCm39)	D82V	probably damaging	Het
Dsp	C	T	13: 38,375,686 (GRCm39)	A1157V	probably benign	Het
Evi5l	G	T	8: 4,255,406 (GRCm39)	V477L	probably benign	Het
Fam187b	T	A	7: 30,681,687 (GRCm39)	H131Q	probably damaging	Het
Fam193b	A	G	13: 55,691,097 (GRCm39)	I259T	probably damaging	Het
Fam91a1	A	G	15: 58,303,059 (GRCm39)	T323A	probably benign	Het
Fat4	T	G	3: 39,037,195 (GRCm39)	S3616A	probably benign	Het
Fbxo38	A	T	18: 62,655,578 (GRCm39)	N369K	probably benign	Het
Fitm1	T	A	14: 55,813,831 (GRCm39)		probably null	Het
Fkbp5	T	C	17: 28,647,343 (GRCm39)	E164G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,211 (GRCm39)	Y310C	possibly damaging	Het
Fryl	A	T	5: 73,192,401 (GRCm39)	M2678K	probably benign	Het
Fsip2	T	C	2: 82,815,169 (GRCm39)	I3634T	probably benign	Het
Gm3233	T	C	10: 77,595,399 (GRCm39)		probably benign	Het
Gzmd	T	G	14: 56,369,955 (GRCm39)	T9P	unknown	Het
Htr2b	A	T	1: 86,027,813 (GRCm39)	I231N	probably damaging	Het
Il2ra	A	G	2: 11,681,664 (GRCm39)	T90A	possibly damaging	Het
Kbtbd2	A	G	6: 56,758,943 (GRCm39)	F60S	probably benign	Het
Kif21b	G	A	1: 136,076,108 (GRCm39)	C299Y	possibly damaging	Het
Lsm5	A	T	6: 56,680,309 (GRCm39)	D44E	probably damaging	Het
Mapk1	T	A	16: 16,836,170 (GRCm39)	M106K	probably damaging	Het
Mpp2	A	G	11: 101,954,117 (GRCm39)	V193A	probably damaging	Het
Muc4	T	C	16: 32,575,437 (GRCm39)	S1398P	possibly damaging	Het
Ndufs2	A	G	1: 171,065,578 (GRCm39)	Y282H	probably damaging	Het
Nes	T	A	3: 87,882,983 (GRCm39)	L414Q	probably damaging	Het
Neurl2	T	A	2: 164,675,122 (GRCm39)		probably null	Het
Ngef	A	G	1: 87,431,070 (GRCm39)	F159S	possibly damaging	Het
Nlrx1	T	C	9: 44,165,448 (GRCm39)	H816R	possibly damaging	Het
Or10v5	A	G	19: 11,806,300 (GRCm39)	L30P	probably benign	Het
Or1e22	A	T	11: 73,376,893 (GRCm39)	Y252*	probably null	Het
Or2f1	T	C	6: 42,721,621 (GRCm39)	S217P	probably damaging	Het
Or4c106	T	C	2: 88,682,516 (GRCm39)	V74A	possibly damaging	Het
Or4f17-ps1	T	A	2: 111,357,969 (GRCm39)	F103L	probably damaging	Het
Or4p7	T	A	2: 88,221,674 (GRCm39)	L28I	probably benign	Het
Or7g35	A	G	9: 19,496,504 (GRCm39)	T224A	probably benign	Het
Pcgf2	A	T	11: 97,582,515 (GRCm39)	Y7N	possibly damaging	Het
Pdlim5	G	A	3: 142,017,740 (GRCm39)		probably benign	Het
Pdzd2	A	G	15: 12,375,734 (GRCm39)	V1467A	probably damaging	Het
Pigp	C	A	16: 94,160,006 (GRCm39)	G134V	probably benign	Het
Pik3c2g	T	C	6: 139,789,657 (GRCm39)	Y385H	possibly damaging	Het
Pnliprp2	G	A	19: 58,754,750 (GRCm39)	E265K	probably benign	Het
Prl3c1	G	T	13: 27,386,471 (GRCm39)		probably null	Het
Ptpn4	A	T	1: 119,692,826 (GRCm39)	Y110*	probably null	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
Rd3l	C	T	12: 111,946,578 (GRCm39)		probably null	Het
Rpl37	G	A	15: 5,147,128 (GRCm39)	R56Q	possibly damaging	Het
Rttn	A	T	18: 89,060,292 (GRCm39)	H998L	probably damaging	Het
Rufy1	A	T	11: 50,292,315 (GRCm39)	F491L	probably benign	Het
Simc1	T	G	13: 54,673,131 (GRCm39)	V493G	possibly damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,003,101 (GRCm39)		probably benign	Het
Slc25a46	A	T	18: 31,735,807 (GRCm39)	I144N	possibly damaging	Het
Smtn	A	T	11: 3,477,825 (GRCm39)	M1K	probably null	Het
Snd1	C	A	6: 28,884,250 (GRCm39)	Y766*	probably null	Het
Spata31d1d	C	T	13: 59,875,102 (GRCm39)	G811D	probably damaging	Het
Spta1	A	C	1: 174,074,174 (GRCm39)	D2371A	probably damaging	Het
Stard6	A	C	18: 70,631,631 (GRCm39)	D74A	possibly damaging	Het
Stim2	G	T	5: 54,262,712 (GRCm39)	R318L	probably benign	Het
Sufu	C	T	19: 46,463,991 (GRCm39)	T401I	possibly damaging	Het
Suz12	G	A	11: 79,920,057 (GRCm39)	G539D	probably damaging	Het
Sytl2	C	G	7: 90,025,245 (GRCm39)	S411C	probably damaging	Het
Taf6	G	A	5: 138,181,465 (GRCm39)	Q156*	probably null	Het
Tead4	T	C	6: 128,247,950 (GRCm39)	D29G	probably damaging	Het
Thada	T	C	17: 84,751,611 (GRCm39)	Y455C	probably damaging	Het
Tlr6	G	C	5: 65,111,002 (GRCm39)	T635S	possibly damaging	Het
Tlr9	A	G	9: 106,101,876 (GRCm39)	D389G	probably benign	Het
Trappc9	G	T	15: 72,808,905 (GRCm39)	N540K	probably damaging	Het
Trbv28	C	T	6: 41,248,788 (GRCm39)	S106F	probably damaging	Het
Trrap	A	T	5: 144,793,770 (GRCm39)	H3384L	probably damaging	Het
Usp16	T	A	16: 87,277,802 (GRCm39)	M684K	probably damaging	Het
Vat1	G	A	11: 101,351,426 (GRCm39)	T305M	probably damaging	Het
Vmn2r85	A	G	10: 130,257,302 (GRCm39)	S544P	probably damaging	Het
Vps8	T	C	16: 21,278,536 (GRCm39)	S267P	probably damaging	Het
Ylpm1	T	A	12: 85,096,719 (GRCm39)	V1242E	probably damaging	Het
Zfp267	C	T	3: 36,218,285 (GRCm39)	R102C	possibly damaging	Het
Zfp322a	T	C	13: 23,541,052 (GRCm39)	Y230C	probably damaging	Het
Zfp352	T	A	4: 90,112,376 (GRCm39)	V172E	probably benign	Het
Zfp936	A	T	7: 42,839,034 (GRCm39)	H167L	probably damaging	Het
Zkscan14	A	G	5: 145,132,302 (GRCm39)	Y410H	probably benign	Het
Zkscan17	A	G	11: 59,394,538 (GRCm39)	M21T	probably damaging	Het
Zswim4	G	T	8: 84,938,852 (GRCm39)	A1010D	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
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'- GGACAGTTGTGTGGATCTCC -3'
(R):5'- ACCGTATATGCTTGGGGCTC -3'

Sequencing Primer
(F):5'- GTGCGTTTTTCCAATTTCACACTAAG -3'
(R):5'- TCTGACTGGGACGCAGC -3'

Posted On

2016-04-27