Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Tmcc3'

68299

Institutional Source

Beutler Lab

Gene Symbol

Tmcc3

Ensembl Gene

ENSMUSG00000020023

Gene Name

transmembrane and coiled coil domains 3

Synonyms

A230066D03Rik, LOC380656, C630016B22Rik

MMRRC Submission

038416-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0131 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94147811-94426818 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 94381437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065060] [ENSMUST00000132743] [ENSMUST00000148823]

AlphaFold

Q8R310

Predicted Effect

probably benign
Transcript: ENSMUST00000065060

SMART Domains

Protein: ENSMUSP00000063264
Gene: ENSMUSG00000020023

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Dazap1	T	G	10: 80,114,060 (GRCm39)		probably null	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Fat2	A	T	11: 55,164,037 (GRCm39)	S3073T	probably benign	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
Gm16069	T	C	3: 89,088,232 (GRCm39)		probably benign	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kif3a	A	G	11: 53,477,743 (GRCm39)	K404R	possibly damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Or8u10	T	C	2: 85,915,844 (GRCm39)	I92M	probably damaging	Het
Pkp2	T	C	16: 16,058,577 (GRCm39)		probably benign	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tbc1d9b	T	C	11: 50,026,751 (GRCm39)	I73T	probably benign	Het
Tgtp1	A	G	11: 48,878,159 (GRCm39)	F182S	probably benign	Het
Tmem116	A	G	5: 121,631,845 (GRCm39)		probably benign	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Tusc1	A	T	4: 93,223,070 (GRCm39)	H196Q	probably benign	Het
Ugt2a1	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Zfp879	C	A	11: 50,724,426 (GRCm39)	G210V	probably damaging	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	probably benign	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
R0360:Tmcc3	UTSW	10	94,414,407 (GRCm39)	missense	probably benign
R0840:Tmcc3	UTSW	10	94,414,633 (GRCm39)	missense	probably benign	0.05
R1994:Tmcc3	UTSW	10	94,414,468 (GRCm39)	missense	possibly damaging	0.95
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'- GCTTGCTCTGAGCTTTCCAAGCTG -3'
(R):5'- TCTTTGCTCACAGACCAATACTGCC -3'

Sequencing Primer
(F):5'- GAGCAGAGTGCTTCTCCTC -3'
(R):5'- TCAGAGTCCAAGTATCTGCG -3'

Posted On

2013-09-03