Mutagenetix > Incidental Mutation

Incidental Mutation 'R6177:Tmcc3'

487830

Institutional Source

Beutler Lab

Gene Symbol

Tmcc3

Ensembl Gene

ENSMUSG00000020023

Gene Name

transmembrane and coiled coil domains 3

Synonyms

MMRRC Submission

044319-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6177 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94311949-94590956 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94582387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 339 (Y339F)

Ref Sequence

ENSEMBL: ENSMUSP00000113122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065060] [ENSMUST00000117460] [ENSMUST00000117929] [ENSMUST00000121471] [ENSMUST00000132743] [ENSMUST00000148823] [ENSMUST00000148910]

AlphaFold

Q8R310

Predicted Effect

probably damaging
Transcript: ENSMUST00000065060
AA Change: Y370F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000063264
Gene: ENSMUSG00000020023
AA Change: Y370F

Domain	Start	End	E-Value	Type
Pfam:Tmemb_cc2	65	465	1.2e-160	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117460
AA Change: Y339F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112669
Gene: ENSMUSG00000020023
AA Change: Y339F

Domain	Start	End	E-Value	Type
Pfam:Tmemb_cc2	32	435	1.6e-176	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117929
AA Change: Y339F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112401
Gene: ENSMUSG00000020023
AA Change: Y339F

Domain	Start	End	E-Value	Type
Pfam:Tmemb_cc2	32	435	1.6e-176	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121471
AA Change: Y339F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113122
Gene: ENSMUSG00000020023
AA Change: Y339F

Domain	Start	End	E-Value	Type
Pfam:Tmemb_cc2	32	435	1.6e-176	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132743

SMART Domains

Protein: ENSMUSP00000119751
Gene: ENSMUSG00000020023

Domain	Start	End	E-Value	Type
Pfam:Tmemb_cc2	47	134	3.3e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146744

Predicted Effect

probably benign
Transcript: ENSMUST00000148823

SMART Domains

Protein: ENSMUSP00000119496
Gene: ENSMUSG00000020023

Domain	Start	End	E-Value	Type
Pfam:Tmemb_cc2	85	210	3.6e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148910

SMART Domains

Protein: ENSMUSP00000121456
Gene: ENSMUSG00000020023

Domain	Start	End	E-Value	Type
Pfam:Tmemb_cc2	34	76	1.6e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184071

Meta Mutation Damage Score

0.4203

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.7%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,105,750	I102T	possibly damaging	Het
Abcd2	T	C	15: 91,190,693	I306V	probably damaging	Het
Actrt3	A	T	3: 30,598,167	Y259*	probably null	Het
Ankfy1	G	A	11: 72,754,459	C788Y	probably benign	Het
Ano1	T	A	7: 144,678,741	M25L	possibly damaging	Het
Apol10b	A	T	15: 77,585,787	D63E	possibly damaging	Het
Atp6v1c1	C	A	15: 38,673,928	S55*	probably null	Het
C1s2	T	G	6: 124,630,001	D296A	probably damaging	Het
Cabs1	C	T	5: 87,979,754	T88I	possibly damaging	Het
Cadm4	G	A	7: 24,502,761	V342M	possibly damaging	Het
Cat	T	C	2: 103,473,075	E119G	probably damaging	Het
Cavin2	G	T	1: 51,289,495	S37I	probably damaging	Het
Cdk5rap2	G	A	4: 70,281,482	R802C	probably damaging	Het
Clip1	A	G	5: 123,613,834		probably benign	Het
Dhx57	T	C	17: 80,272,966	N519S	possibly damaging	Het
Dpep2	T	C	8: 105,986,199	D260G	probably damaging	Het
Edem1	T	A	6: 108,851,198		probably null	Het
Epb41l4a	A	T	18: 33,798,815		probably null	Het
Esp1	T	C	17: 40,728,832	S3P	possibly damaging	Het
Fam111a	A	G	19: 12,587,382	Y165C	probably damaging	Het
Fstl4	A	G	11: 53,168,204	T497A	probably benign	Het
Gm281	T	C	14: 13,868,002	D229G	probably benign	Het
Gstcd	T	C	3: 133,082,073	D288G	probably damaging	Het
Hmcn2	T	A	2: 31,420,106	L3264*	probably null	Het
Hyal4	T	A	6: 24,766,090	L481*	probably null	Het
Ighv2-7	A	G	12: 113,807,435	Y77H	possibly damaging	Het
Jdp2	G	T	12: 85,638,840	R125L	probably benign	Het
Lrp1b	A	T	2: 41,123,736		probably null	Het
Lrp2	AC	A	2: 69,510,419		probably null	Het
Marveld2	C	T	13: 100,597,378	D250N	probably damaging	Het
Mast3	A	G	8: 70,790,018	S53P	probably damaging	Het
Myo3b	T	C	2: 70,313,363	V1041A	probably benign	Het
Nkpd1	T	A	7: 19,523,084	F113I	probably damaging	Het
Obscn	A	G	11: 59,032,664	S6470P	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1015	C	T	2: 85,785,660	R50C	probably damaging	Het
Olfr1246	T	C	2: 89,590,317	D266G	possibly damaging	Het
Pdcd11	G	T	19: 47,120,283	G1246V	probably damaging	Het
Phc3	A	T	3: 30,942,565	S219T	probably damaging	Het
Plxnb1	C	T	9: 109,102,925		probably null	Het
Polh	T	C	17: 46,184,744	D276G	possibly damaging	Het
Polq	T	A	16: 37,071,709	V1991E	probably damaging	Het
Polr2g	G	A	19: 8,794,177	R144C	probably damaging	Het
Pramef25	G	A	4: 143,949,006	H417Y	possibly damaging	Het
Prex2	A	C	1: 11,136,777	T520P	possibly damaging	Het
Psg21	T	A	7: 18,652,354	T236S	possibly damaging	Het
Ptpru	A	T	4: 131,793,525	S761R	probably benign	Het
Rapgef6	G	A	11: 54,620,016	R253Q	probably damaging	Het
Rc3h2	C	T	2: 37,389,646	V524I	probably benign	Het
Sde2	T	C	1: 180,858,219	V112A	probably damaging	Het
Sept7	T	C	9: 25,293,804		probably null	Het
Spef2	A	G	15: 9,727,532	V155A	possibly damaging	Het
St7	T	C	6: 17,819,334		probably null	Het
Tmed6	T	C	8: 107,065,451	E54G	probably damaging	Het
Tnks1bp1	C	T	2: 85,059,280		probably benign	Het
Trim43c	T	C	9: 88,840,547	L82P	possibly damaging	Het
Txndc2	T	C	17: 65,638,471	D237G	probably benign	Het
Vmn1r91	T	A	7: 20,101,479	C108S	possibly damaging	Het
Vtn	A	T	11: 78,500,010	D165V	probably damaging	Het
Wdr3	A	T	3: 100,161,152	S13R	probably damaging	Het
Zdhhc16	A	G	19: 41,937,759	Y31C	probably benign	Het
Zfp39	A	T	11: 58,891,061	W292R	probably benign	Het
Zfp612	A	T	8: 110,089,974	L604F	probably damaging	Het

Other mutations in Tmcc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Tmcc3	APN	10	94582285	missense	probably damaging	1.00
IGL01455:Tmcc3	APN	10	94586755	missense	probably damaging	0.97
IGL02376:Tmcc3	APN	10	94578567	missense	possibly damaging	0.85
IGL03073:Tmcc3	APN	10	94578951	missense	probably benign	0.40
IGL03348:Tmcc3	APN	10	94579080	missense	possibly damaging	0.95
R0131:Tmcc3	UTSW	10	94545575	splice site	probably benign
R0360:Tmcc3	UTSW	10	94578545	missense	probably benign
R0840:Tmcc3	UTSW	10	94578771	missense	probably benign	0.05
R1994:Tmcc3	UTSW	10	94578606	missense	possibly damaging	0.95
R1995:Tmcc3	UTSW	10	94578606	missense	possibly damaging	0.95
R2184:Tmcc3	UTSW	10	94582306	missense	probably damaging	1.00
R2197:Tmcc3	UTSW	10	94578918	missense	probably damaging	1.00
R2273:Tmcc3	UTSW	10	94578915	missense	probably damaging	0.97
R2274:Tmcc3	UTSW	10	94578915	missense	probably damaging	0.97
R3763:Tmcc3	UTSW	10	94579317	missense	probably benign	0.42
R4690:Tmcc3	UTSW	10	94545557	utr 5 prime	probably benign
R4763:Tmcc3	UTSW	10	94579311	missense	probably damaging	1.00
R4816:Tmcc3	UTSW	10	94578784	missense	possibly damaging	0.89
R5385:Tmcc3	UTSW	10	94579153	missense	probably damaging	1.00
R6636:Tmcc3	UTSW	10	94578424	missense	probably benign	0.14
R6898:Tmcc3	UTSW	10	94551172	splice site	probably null
R7128:Tmcc3	UTSW	10	94430634	start gained	probably benign
R7313:Tmcc3	UTSW	10	94430572	start gained	probably benign
R7320:Tmcc3	UTSW	10	94578495	missense	possibly damaging	0.94
R7456:Tmcc3	UTSW	10	94582312	missense	possibly damaging	0.79
R7874:Tmcc3	UTSW	10	94551027	critical splice donor site	probably null
R7876:Tmcc3	UTSW	10	94578535	missense	probably benign	0.03
R8098:Tmcc3	UTSW	10	94579216	missense	probably benign	0.00
R8274:Tmcc3	UTSW	10	94586876	missense	probably damaging	1.00
R8276:Tmcc3	UTSW	10	94582308	missense	probably damaging	0.97
R8939:Tmcc3	UTSW	10	94545621	intron	probably benign
R9418:Tmcc3	UTSW	10	94579225	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- ATCATTCTAGACCACGCCGTTG -3'
(R):5'- ACTAGTTAGGCAACCGGGTAAC -3'

Sequencing Primer
(F):5'- ACGCCGTTGGAACACCTG -3'
(R):5'- TTAGGCAACCGGGTAACAGAGG -3'

Posted On

2017-10-10