Mutagenetix > Incidental Mutation

Incidental Mutation 'R1994:Tmcc3'

224172

Institutional Source

Beutler Lab

Gene Symbol

Tmcc3

Ensembl Gene

ENSMUSG00000020023

Gene Name

transmembrane and coiled coil domains 3

Synonyms

A230066D03Rik, LOC380656, C630016B22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1994 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94147811-94426818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94414468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 57 (S57P)

Ref Sequence

ENSEMBL: ENSMUSP00000119496 (fasta)

Gene Model

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

AlphaFold

Q8R310

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065060
AA Change: S88P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000063264
Gene: ENSMUSG00000020023
AA Change: S88P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117460
AA Change: S57P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112669
Gene: ENSMUSG00000020023
AA Change: S57P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117929
AA Change: S57P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112401
Gene: ENSMUSG00000020023
AA Change: S57P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121471
AA Change: S57P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113122
Gene: ENSMUSG00000020023
AA Change: S57P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132743
AA Change: S57P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119751
Gene: ENSMUSG00000020023
AA Change: S57P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146744

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148823
AA Change: S57P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119496
Gene: ENSMUSG00000020023
AA Change: S57P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148910
AA Change: S57P

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000121456
Gene: ENSMUSG00000020023
AA Change: S57P

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

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,113,014 (GRCm39)		probably null	Het
Abcc8	T	G	7: 45,806,543 (GRCm39)	R388S	probably benign	Het
Abhd18	C	T	3: 40,889,361 (GRCm39)	R414*	probably null	Het
Acap1	C	T	11: 69,780,324 (GRCm39)	V40I	probably benign	Het
Actn1	C	A	12: 80,251,745 (GRCm39)	G111*	probably null	Het
Adam26b	T	C	8: 43,973,676 (GRCm39)	Q442R	probably benign	Het
Adamts19	T	C	18: 59,105,903 (GRCm39)		probably null	Het
Agtpbp1	T	G	13: 59,678,872 (GRCm39)	K145N	probably damaging	Het
AI661453	A	G	17: 47,777,959 (GRCm39)		probably benign	Het
Ap4e1	T	C	2: 126,903,467 (GRCm39)	S790P	probably benign	Het
Asmt	A	G	X: 169,109,524 (GRCm39)	E168G	possibly damaging	Het
Atp2a3	T	A	11: 72,866,240 (GRCm39)	S287T	probably damaging	Het
AY358078	T	A	14: 52,063,519 (GRCm39)	D388E	probably damaging	Het
Bicd1	A	T	6: 149,415,050 (GRCm39)	T588S	probably benign	Het
Birc6	T	G	17: 74,905,057 (GRCm39)	N1283K	probably benign	Het
Cacna1e	T	A	1: 154,353,563 (GRCm39)	Q423L	probably damaging	Het
Capn3	T	A	2: 120,326,418 (GRCm39)	Y537N	probably damaging	Het
Ccn3	T	A	15: 54,612,750 (GRCm39)	V253E	probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Chgb	T	C	2: 132,628,418 (GRCm39)	S48P	possibly damaging	Het
Cidec	T	A	6: 113,405,193 (GRCm39)	Y159F	probably damaging	Het
Clec18a	T	C	8: 111,808,234 (GRCm39)	S66G	possibly damaging	Het
Cpsf1	G	A	15: 76,487,360 (GRCm39)	T138M	probably benign	Het
Dclre1c	C	T	2: 3,439,022 (GRCm39)	R61W	probably damaging	Het
Eef1akmt1	A	C	14: 57,787,911 (GRCm39)	V149G	probably benign	Het
Fam131b	T	C	6: 42,297,818 (GRCm39)	T112A	possibly damaging	Het
Fbln2	A	G	6: 91,211,283 (GRCm39)	E409G	probably damaging	Het
Fkbp15	G	A	4: 62,222,618 (GRCm39)	P1094S	probably benign	Het
Fpr1	A	G	17: 18,097,879 (GRCm39)	S37P	probably benign	Het
Fryl	G	T	5: 73,265,836 (GRCm39)	T495K	probably damaging	Het
Gja6	A	T	X: 159,686,374 (GRCm39)	I186N	possibly damaging	Het
Gm4922	T	C	10: 18,659,388 (GRCm39)	T445A	probably benign	Het
Gria2	G	A	3: 80,709,664 (GRCm39)	L10F	probably benign	Het
Gspt2	A	G	X: 93,681,025 (GRCm39)	D388G	possibly damaging	Het
Hdc	T	A	2: 126,458,107 (GRCm39)	I72F	probably damaging	Het
Ift70b	A	G	2: 75,768,402 (GRCm39)	L117P	probably damaging	Het
Igf2r	T	C	17: 12,911,625 (GRCm39)	K1905E	probably benign	Het
Il33	A	G	19: 29,934,304 (GRCm39)	D155G	possibly damaging	Het
Klk1b9	C	T	7: 43,628,979 (GRCm39)	T161I	probably benign	Het
Mfsd12	C	A	10: 81,193,515 (GRCm39)	H28Q	probably damaging	Het
Mgat5	A	T	1: 127,387,696 (GRCm39)	I551F	possibly damaging	Het
Miga2	A	T	2: 30,272,000 (GRCm39)	D25V	probably damaging	Het
Mlc1	T	C	15: 88,858,782 (GRCm39)	N122S	possibly damaging	Het
Mmp20	T	A	9: 7,645,293 (GRCm39)	M281K	probably benign	Het
Muc5ac	C	A	7: 141,366,889 (GRCm39)	P2232T	possibly damaging	Het
N4bp2l2	A	G	5: 150,584,748 (GRCm39)	S411P	possibly damaging	Het
Ngef	G	A	1: 87,415,626 (GRCm39)	S346L	probably damaging	Het
Or10j27	C	T	1: 172,958,418 (GRCm39)	R122H	possibly damaging	Het
Or2t6	A	G	14: 14,175,854 (GRCm38)	I76T	probably benign	Het
Or4c112	T	A	2: 88,853,487 (GRCm39)	T287S	probably damaging	Het
Or4f15	T	A	2: 111,814,429 (GRCm39)	M5L	probably benign	Het
Or51aa2	T	C	7: 103,187,566 (GRCm39)	I292V	possibly damaging	Het
Or52m2	C	T	7: 102,263,747 (GRCm39)	V150M	probably damaging	Het
Or56b2	T	C	7: 104,337,690 (GRCm39)	I156T	probably benign	Het
Or6c215	T	C	10: 129,637,530 (GRCm39)	Y288C	probably damaging	Het
Or6c6	T	A	10: 129,186,561 (GRCm39)	I43N	probably damaging	Het
Pecam1	G	T	11: 106,586,763 (GRCm39)	H150N	possibly damaging	Het
Polr3c	A	T	3: 96,621,689 (GRCm39)		probably null	Het
Pop1	A	C	15: 34,530,617 (GRCm39)	Q1005P	probably damaging	Het
Prss22	G	A	17: 24,215,288 (GRCm39)	P163S	probably damaging	Het
Prss33	G	A	17: 24,053,172 (GRCm39)	A223V	probably damaging	Het
Prss53	C	T	7: 127,486,565 (GRCm39)	V354I	probably benign	Het
Rab3gap2	C	T	1: 184,968,221 (GRCm39)	T191I	probably damaging	Het
Rictor	T	C	15: 6,805,637 (GRCm39)	F608L	probably benign	Het
Ryr3	T	A	2: 112,484,837 (GRCm39)	E3884V	probably null	Het
Scaf11	G	A	15: 96,316,721 (GRCm39)	R948*	probably null	Het
Sec61g	A	T	11: 16,456,444 (GRCm39)	V40E	probably damaging	Het
Serpinb3d	A	T	1: 107,008,518 (GRCm39)	F116I	possibly damaging	Het
Sipa1l3	T	C	7: 29,099,036 (GRCm39)	D411G	probably benign	Het
Slc13a3	T	C	2: 165,275,984 (GRCm39)	N254S	possibly damaging	Het
Slc35a2	T	A	X: 7,759,064 (GRCm39)	L110Q	probably damaging	Het
Spata31d1b	G	C	13: 59,864,194 (GRCm39)	L447F	probably benign	Het
Spsb2	T	C	6: 124,786,329 (GRCm39)		probably null	Het
Tent4b	C	T	8: 88,973,112 (GRCm39)	T277M	probably damaging	Het
Traf7	A	G	17: 24,729,476 (GRCm39)	V445A	probably damaging	Het
Trib1	A	G	15: 59,521,192 (GRCm39)	S61G	possibly damaging	Het
Trip12	A	T	1: 84,726,893 (GRCm39)	F36I	probably damaging	Het
Tshz3	T	C	7: 36,469,247 (GRCm39)	I412T	probably damaging	Het
Tsku	T	C	7: 98,001,353 (GRCm39)	Y326C	probably damaging	Het
Ttn	T	G	2: 76,712,038 (GRCm39)		probably benign	Het
Ugt1a6a	G	A	1: 88,066,470 (GRCm39)	R92H	probably benign	Het
Vmn1r63	A	G	7: 5,806,254 (GRCm39)	V126A	probably benign	Het
Vmn2r84	T	A	10: 130,221,878 (GRCm39)	S781C	probably damaging	Het
Wdr91	T	A	6: 34,869,297 (GRCm39)	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,342,938 (GRCm39)	T315S	possibly damaging	Het
Zdhhc25	A	G	15: 88,485,027 (GRCm39)	T121A	probably benign	Het
Zfp109	T	C	7: 23,928,743 (GRCm39)	H222R	probably benign	Het
Zfp286	A	G	11: 62,670,646 (GRCm39)	S476P	probably damaging	Het
Zfp605	T	C	5: 110,275,418 (GRCm39)	Y179H	probably damaging	Het
Zfp955a	T	C	17: 33,460,620 (GRCm39)	H504R	probably damaging	Het
Zswim2	T	A	2: 83,746,007 (GRCm39)	N477I	possibly damaging	Het

Other mutations in Tmcc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Tmcc3	APN	10	94,418,147 (GRCm39)	missense	probably damaging	1.00
IGL01455:Tmcc3	APN	10	94,422,617 (GRCm39)	missense	probably damaging	0.97
IGL02376:Tmcc3	APN	10	94,414,429 (GRCm39)	missense	possibly damaging	0.85
IGL03073:Tmcc3	APN	10	94,414,813 (GRCm39)	missense	probably benign	0.40
IGL03348:Tmcc3	APN	10	94,414,942 (GRCm39)	missense	possibly damaging	0.95
R0131:Tmcc3	UTSW	10	94,381,437 (GRCm39)	splice site	probably benign
R0360:Tmcc3	UTSW	10	94,414,407 (GRCm39)	missense	probably benign
R0840:Tmcc3	UTSW	10	94,414,633 (GRCm39)	missense	probably benign	0.05
R1995:Tmcc3	UTSW	10	94,414,468 (GRCm39)	missense	possibly damaging	0.95
R2184:Tmcc3	UTSW	10	94,418,168 (GRCm39)	missense	probably damaging	1.00
R2197:Tmcc3	UTSW	10	94,414,780 (GRCm39)	missense	probably damaging	1.00
R2273:Tmcc3	UTSW	10	94,414,777 (GRCm39)	missense	probably damaging	0.97
R2274:Tmcc3	UTSW	10	94,414,777 (GRCm39)	missense	probably damaging	0.97
R3763:Tmcc3	UTSW	10	94,415,179 (GRCm39)	missense	probably benign	0.42
R4690:Tmcc3	UTSW	10	94,381,419 (GRCm39)	utr 5 prime	probably benign
R4763:Tmcc3	UTSW	10	94,415,173 (GRCm39)	missense	probably damaging	1.00
R4816:Tmcc3	UTSW	10	94,414,646 (GRCm39)	missense	possibly damaging	0.89
R5385:Tmcc3	UTSW	10	94,415,015 (GRCm39)	missense	probably damaging	1.00
R6177:Tmcc3	UTSW	10	94,418,249 (GRCm39)	missense	probably damaging	0.97
R6636:Tmcc3	UTSW	10	94,414,286 (GRCm39)	missense	probably benign	0.14
R6898:Tmcc3	UTSW	10	94,387,034 (GRCm39)	splice site	probably null
R7128:Tmcc3	UTSW	10	94,266,496 (GRCm39)	start gained	probably benign
R7313:Tmcc3	UTSW	10	94,266,434 (GRCm39)	start gained	probably benign
R7320:Tmcc3	UTSW	10	94,414,357 (GRCm39)	missense	possibly damaging	0.94
R7456:Tmcc3	UTSW	10	94,418,174 (GRCm39)	missense	possibly damaging	0.79
R7874:Tmcc3	UTSW	10	94,386,889 (GRCm39)	critical splice donor site	probably null
R7876:Tmcc3	UTSW	10	94,414,397 (GRCm39)	missense	probably benign	0.03
R8098:Tmcc3	UTSW	10	94,415,078 (GRCm39)	missense	probably benign	0.00
R8274:Tmcc3	UTSW	10	94,422,738 (GRCm39)	missense	probably damaging	1.00
R8276:Tmcc3	UTSW	10	94,418,170 (GRCm39)	missense	probably damaging	0.97
R8939:Tmcc3	UTSW	10	94,381,483 (GRCm39)	intron	probably benign
R9418:Tmcc3	UTSW	10	94,415,087 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CCTTGTCTTTCAGGTGGACC -3'
(R):5'- AGATGTCCTTTGAGCTCCTGG -3'

Sequencing Primer
(F):5'- TGGACCGCCATGACATGAATAC -3'
(R):5'- GGTCACGCCATTCTGTTCG -3'

Posted On

2014-08-25