Mutagenetix > Incidental Mutation

Incidental Mutation 'R7456:Tmcc3'

578144

Institutional Source

Beutler Lab

Gene Symbol

Tmcc3

Ensembl Gene

ENSMUSG00000020023

Gene Name

transmembrane and coiled coil domains 3

Synonyms

A230066D03Rik, LOC380656, C630016B22Rik

MMRRC Submission

045530-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94147811-94426818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94418174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 345 (E345G)

Ref Sequence

ENSEMBL: ENSMUSP00000063264 (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: E345G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063264
Gene: ENSMUSG00000020023
AA Change: E345G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117460
AA Change: E314G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112669
Gene: ENSMUSG00000020023
AA Change: E314G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117929
AA Change: E314G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112401
Gene: ENSMUSG00000020023
AA Change: E314G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121471
AA Change: E314G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113122
Gene: ENSMUSG00000020023
AA Change: E314G

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	A	G	4: 86,792,748 (GRCm39)	D8G	possibly damaging	Het
Angpt4	T	C	2: 151,780,987 (GRCm39)	Y412H	probably damaging	Het
Ankef1	A	G	2: 136,387,734 (GRCm39)	D217G	probably benign	Het
Ano2	A	T	6: 125,940,508 (GRCm39)	I544F	probably benign	Het
App	G	A	16: 84,970,448 (GRCm39)			Het
Arhgef26	A	G	3: 62,247,476 (GRCm39)	T187A	probably benign	Het
Axin1	T	A	17: 26,362,139 (GRCm39)	V161E	probably damaging	Het
Bbs7	A	T	3: 36,648,527 (GRCm39)	V407D	probably damaging	Het
C1qtnf3	A	T	15: 10,972,137 (GRCm39)	E141V	probably benign	Het
C2	A	G	17: 35,083,558 (GRCm39)	I469T	probably damaging	Het
Cc2d1a	A	G	8: 84,866,868 (GRCm39)		probably null	Het
Cd226	A	T	18: 89,224,747 (GRCm39)	I10F	probably damaging	Het
Cep295nl	T	C	11: 118,224,376 (GRCm39)	K156R	possibly damaging	Het
Cfap20dc	A	T	14: 8,442,933 (GRCm38)	L612*	probably null	Het
Cfap44	A	G	16: 44,252,305 (GRCm39)	T805A	probably benign	Het
Chd9	G	T	8: 91,659,153 (GRCm39)	E38*	probably null	Het
Cldnd2	C	T	7: 43,091,109 (GRCm39)	L14F	not run	Het
Cyp11b2	T	C	15: 74,725,379 (GRCm39)	T247A	probably benign	Het
Dennd11	T	G	6: 40,383,774 (GRCm39)	M423L	probably benign	Het
Dsc1	T	C	18: 20,219,879 (GRCm39)	S764G	probably benign	Het
Dsg3	A	T	18: 20,664,420 (GRCm39)	T473S	probably benign	Het
Fam193a	A	T	5: 34,578,132 (GRCm39)	I209F	possibly damaging	Het
Foxs1	T	C	2: 152,775,045 (GRCm39)	K3E	probably benign	Het
Gabrr3	C	T	16: 59,227,853 (GRCm39)	Q37*	probably null	Het
Gcm2	A	T	13: 41,256,751 (GRCm39)	W333R	probably benign	Het
Gcn1	C	T	5: 115,743,005 (GRCm39)	Q1559*	probably null	Het
Gfm2	A	T	13: 97,282,211 (GRCm39)	K69*	probably null	Het
Gm14295	T	G	2: 176,500,943 (GRCm39)	C144W	possibly damaging	Het
Gm32742	G	A	9: 51,071,270 (GRCm39)	T5I	probably damaging	Het
Gm5093	T	C	17: 46,750,679 (GRCm39)	D116G	probably damaging	Het
Gsn	A	T	2: 35,172,718 (GRCm39)	K3N	possibly damaging	Het
H2-M2	C	T	17: 37,792,552 (GRCm39)	D240N	possibly damaging	Het
Habp2	G	C	19: 56,307,957 (GRCm39)	G482R	probably damaging	Het
Hnrnpm	A	T	17: 33,865,622 (GRCm39)	Y680N	possibly damaging	Het
Hrc	T	A	7: 44,986,320 (GRCm39)	D490E	possibly damaging	Het
Impg2	A	G	16: 56,080,276 (GRCm39)	I693M	probably benign	Het
Itga7	A	G	10: 128,777,805 (GRCm39)	Y262C	probably damaging	Het
Kif1c	A	G	11: 70,619,424 (GRCm39)	T1020A	probably benign	Het
Kif23	T	C	9: 61,844,402 (GRCm39)	I139V	probably benign	Het
Klk1b5	A	G	7: 43,500,255 (GRCm39)	E281G	probably benign	Het
Kpna4	A	G	3: 69,000,181 (GRCm39)	V275A	probably damaging	Het
Lamb2	C	A	9: 108,362,979 (GRCm39)	D787E	possibly damaging	Het
Ldlrad3	A	C	2: 101,785,270 (GRCm39)	V235G	probably damaging	Het
Maneal	A	G	4: 124,750,767 (GRCm39)	S330P	probably damaging	Het
Maz	G	A	7: 126,625,489 (GRCm39)	Q35*	probably null	Het
Mthfd1l	C	T	10: 4,039,998 (GRCm39)	T803M	probably damaging	Het
Muc5ac	A	G	7: 141,346,904 (GRCm39)	Q325R	probably benign	Het
Myo3a	C	A	2: 22,412,255 (GRCm39)	A758E	probably benign	Het
Ndufb7	A	G	8: 84,293,482 (GRCm39)	D12G	probably benign	Het
Nsun2	T	A	13: 69,781,725 (GRCm39)	C677S	probably damaging	Het
Obscn	A	G	11: 58,899,384 (GRCm39)	F6471S	probably benign	Het
Or4c106	A	T	2: 88,682,563 (GRCm39)	I90F	probably damaging	Het
Or51k1	A	G	7: 103,661,045 (GRCm39)	V288A	possibly damaging	Het
Or7g32	T	C	9: 19,408,844 (GRCm39)	S267P	probably damaging	Het
Otof	T	C	5: 30,552,005 (GRCm39)	D313G	probably damaging	Het
Paqr5	T	C	9: 61,880,072 (GRCm39)	D74G	probably benign	Het
Pigq	A	G	17: 26,153,580 (GRCm39)	V365A	unknown	Het
Podn	A	T	4: 107,875,002 (GRCm39)	N588K	probably benign	Het
Polr3b	G	A	10: 84,458,355 (GRCm39)	G9R	probably benign	Het
Proser1	A	G	3: 53,385,939 (GRCm39)	H607R	probably damaging	Het
Ryr2	C	T	13: 11,767,168 (GRCm39)	V1241I	probably benign	Het
Sar1b	G	A	11: 51,682,181 (GRCm39)	A170T	probably benign	Het
Slc22a17	T	C	14: 55,149,716 (GRCm39)	T191A	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,779 (GRCm39)		unknown	Het
Slco6d1	A	T	1: 98,349,082 (GRCm39)	D51V	possibly damaging	Het
Snx16	G	A	3: 10,500,541 (GRCm39)	R143*	probably null	Het
Sytl2	T	A	7: 89,998,055 (GRCm39)	L19Q	probably damaging	Het
Ttn	C	T	2: 76,555,998 (GRCm39)	A30336T	probably damaging	Het
Vmn1r44	A	G	6: 89,870,401 (GRCm39)	D49G	probably benign	Het
Vps35l	C	T	7: 118,403,340 (GRCm39)	P628S	probably benign	Het
Vps41	T	A	13: 19,048,204 (GRCm39)	D801E	probably benign	Het
Wif1	G	A	10: 120,932,554 (GRCm39)	E311K	probably benign	Het
Zfp513	G	T	5: 31,357,759 (GRCm39)	R207S	possibly damaging	Het
Zfp52	C	A	17: 21,781,615 (GRCm39)	H488N	probably damaging	Het
Zfp738	A	G	13: 67,817,619 (GRCm39)	Y791H	probably 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
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
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'- TCCTAGAATTGGGATTCAGGGG -3'
(R):5'- TCATGACGGAATGCTTGGGG -3'

Sequencing Primer
(F):5'- CAGGGGTGACAAAAATTGTGTTTCC -3'
(R):5'- CGGAATGCTTGGGGAAGTGTAC -3'

Posted On

2019-10-07