Mutagenetix > Incidental Mutation

Incidental Mutation 'R2040:Tmem56'

225501

Institutional Source

Beutler Lab

Gene Symbol

Tmem56

Ensembl Gene

ENSMUSG00000028132

Gene Name

transmembrane protein 56

Synonyms

MMRRC Submission

040047-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R2040 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121201761-121283098 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 121231326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029777] [ENSMUST00000128909] [ENSMUST00000135818] [ENSMUST00000137234] [ENSMUST00000155309]

AlphaFold

Q8CGF5

Predicted Effect

probably benign
Transcript: ENSMUST00000029777

SMART Domains

Protein: ENSMUSP00000029777
Gene: ENSMUSG00000028132

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
TLC	57	259	1.5e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123427

Predicted Effect

probably benign
Transcript: ENSMUST00000128909

SMART Domains

Protein: ENSMUSP00000119468
Gene: ENSMUSG00000028132

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
TLC	57	259	1.5e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135818

SMART Domains

Protein: ENSMUSP00000114755
Gene: ENSMUSG00000028132

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
TLC	57	231	4.68e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137234

SMART Domains

Protein: ENSMUSP00000122001
Gene: ENSMUSG00000028132

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:TRAM_LAG1_CLN8	61	138	7.8e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151058

Predicted Effect

probably benign
Transcript: ENSMUST00000155309

SMART Domains

Protein: ENSMUSP00000120821
Gene: ENSMUSG00000028132

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
TLC	57	259	1.5e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200402

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,545,741	I75L	probably benign	Het
Abca2	T	C	2: 25,443,805	L1755P	probably damaging	Het
Adam6b	A	T	12: 113,490,744	I394L	probably benign	Het
Ano2	T	A	6: 126,039,508	N1001K	probably benign	Het
Arap2	A	T	5: 62,748,916	N253K	probably damaging	Het
Ascc3	T	C	10: 50,728,131	C1316R	probably benign	Het
Atox1	T	C	11: 55,450,517	Y64C	probably benign	Het
Atp13a1	A	G	8: 69,807,052	T1098A	possibly damaging	Het
Casr	T	C	16: 36,510,366	E202G	possibly damaging	Het
Cct2	T	C	10: 117,053,113	T494A	probably benign	Het
Cd209e	T	A	8: 3,849,158	N185Y	probably damaging	Het
Celsr1	A	G	15: 86,032,887	L295P	probably damaging	Het
Cyp26a1	A	G	19: 37,698,051	T48A	possibly damaging	Het
Elovl3	A	G	19: 46,133,128	S37G	probably benign	Het
Fbxo18	T	G	2: 11,769,895	D13A	possibly damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Frem3	G	T	8: 80,615,826	V1583L	possibly damaging	Het
Gm21863	C	A	12: 19,954,514	Q4K	possibly damaging	Het
Gm266	T	C	12: 111,485,698	T25A	possibly damaging	Het
Gm8674	T	C	13: 49,901,669		noncoding transcript	Het
Greb1	T	C	12: 16,702,650	H897R	probably damaging	Het
Hells	A	G	19: 38,955,030	D565G	probably damaging	Het
Hfm1	C	T	5: 106,901,818	V426I	probably damaging	Het
Ints6	G	A	14: 62,713,689	T297I	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Kmt2b	A	T	7: 30,569,420	M2628K	probably damaging	Het
Ktn1	T	G	14: 47,700,612		probably benign	Het
Lyst	T	A	13: 13,641,222	D1230E	probably benign	Het
Mboat1	T	C	13: 30,241,317		probably null	Het
Moxd2	T	C	6: 40,884,953		probably null	Het
Mtmr4	T	C	11: 87,605,090	M527T	probably damaging	Het
Myt1	T	A	2: 181,825,924	N1050K	probably damaging	Het
Ncoa6	A	T	2: 155,406,080	V1768E	probably damaging	Het
Nelfcd	G	A	2: 174,420,082	C48Y	probably damaging	Het
Olfr372	T	A	8: 72,057,763	F28I	possibly damaging	Het
Olfr535	T	C	7: 140,493,382	I248T	probably benign	Het
Opn3	G	A	1: 175,663,579	A296V	possibly damaging	Het
Pam	T	C	1: 97,864,442	E418G	possibly damaging	Het
Prrc2c	A	T	1: 162,697,557	N493K	probably damaging	Het
Ptpn18	A	G	1: 34,470,219	Q165R	probably damaging	Het
Ptpro	C	A	6: 137,386,164		probably benign	Het
Ralgapa1	A	G	12: 55,786,322	F132S	probably damaging	Het
Robo1	T	C	16: 72,933,742	C244R	probably damaging	Het
Robo3	A	C	9: 37,427,464	V316G	probably damaging	Het
Rsl1	T	C	13: 67,182,081	S198P	probably damaging	Het
Rsph9	T	C	17: 46,134,984	D220G	probably damaging	Het
Rxfp2	A	C	5: 150,070,212	I580L	probably benign	Het
Sept7	G	A	9: 25,288,236	A144T	possibly damaging	Het
Sfn	T	C	4: 133,601,292	K160E	probably benign	Het
Ski	A	G	4: 155,221,572	Y317H	probably damaging	Het
Slc22a22	A	T	15: 57,247,540	Y430*	probably null	Het
Src	A	G	2: 157,457,110	K9R	probably benign	Het
Srm	C	T	4: 148,593,996	P255L	possibly damaging	Het
Stpg4	T	A	17: 87,422,647	N90I	probably damaging	Het
Sytl2	T	A	7: 90,381,861		probably benign	Het
Tbpl2	T	C	2: 24,094,859	K92R	probably benign	Het
Tmem38a	T	A	8: 72,581,252	N178K	probably damaging	Het
Tnfaip3	T	C	10: 19,008,152	D160G	possibly damaging	Het
Ttc37	A	C	13: 76,180,103	R1423S	probably damaging	Het
Vegfb	T	A	19: 6,986,039	H119L	possibly damaging	Het
Vmn2r111	T	A	17: 22,548,414	I701F	probably damaging	Het
Vmn2r95	C	T	17: 18,441,299	L436F	probably damaging	Het
Wdr47	T	C	3: 108,623,372	C394R	probably benign	Het
Ythdc2	T	A	18: 44,855,174	Y16*	probably null	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp353-ps	A	G	8: 42,082,296		noncoding transcript	Het

Other mutations in Tmem56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02606:Tmem56	APN	3	121228364	missense	possibly damaging	0.94
IGL03339:Tmem56	APN	3	121228840	splice site	probably benign
R1295:Tmem56	UTSW	3	121207291	missense	probably benign
R1296:Tmem56	UTSW	3	121207291	missense	probably benign
R2056:Tmem56	UTSW	3	121207421	missense	probably benign	0.00
R4541:Tmem56	UTSW	3	121235235	start codon destroyed	probably null	0.00
R6044:Tmem56	UTSW	3	121207369	missense	probably damaging	0.97
R6261:Tmem56	UTSW	3	121235059	missense	possibly damaging	0.86
R6916:Tmem56	UTSW	3	121207156	missense	possibly damaging	0.94
R7640:Tmem56	UTSW	3	121235041	critical splice donor site	probably null
R7911:Tmem56	UTSW	3	121228392	missense	probably damaging	0.96
R9404:Tmem56	UTSW	3	121235082	missense	probably benign	0.00
RF010:Tmem56	UTSW	3	121228884	missense	probably benign	0.00
Z1177:Tmem56	UTSW	3	121211308	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCCCTCAACATTTGTGC -3'
(R):5'- GTGGCCCTATGGTTTCTAAATAAC -3'

Sequencing Primer
(F):5'- TGTAATTGGCTGAAGTACAACTG -3'
(R):5'- TGGCCCCTCTAAATGACAGTGTTAG -3'

Posted On

2014-08-25