Mutagenetix > Incidental Mutation

Incidental Mutation 'R5385:Tmcc3'

425109

Institutional Source

Beutler Lab

Gene Symbol

Tmcc3

Ensembl Gene

ENSMUSG00000020023

Gene Name

transmembrane and coiled coil domains 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94311949-94590956 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94579153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 239 (N239I)

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: N270I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063264
Gene: ENSMUSG00000020023
AA Change: N270I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117460
AA Change: N239I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112669
Gene: ENSMUSG00000020023
AA Change: N239I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117929
AA Change: N239I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112401
Gene: ENSMUSG00000020023
AA Change: N239I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121471
AA Change: N239I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113122
Gene: ENSMUSG00000020023
AA Change: N239I

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,585,612	T175A	probably benign	Het
Adam23	A	G	1: 63,551,811	D479G	possibly damaging	Het
Adgrl3	T	G	5: 81,726,801	Y1050D	probably damaging	Het
Ago4	A	G	4: 126,517,556	I103T	probably benign	Het
Ajuba	T	C	14: 54,570,398	Y459C	probably damaging	Het
Aldh7a1	T	A	18: 56,534,253	N316Y	possibly damaging	Het
Alyref2	A	G	1: 171,503,703	N16S	probably benign	Het
Ankhd1	A	G	18: 36,591,495	E402G	probably damaging	Het
Ankrd36	A	G	11: 5,689,340		probably benign	Het
Ap2b1	T	C	11: 83,342,601	V480A	probably damaging	Het
Arhgap30	A	G	1: 171,408,280	R741G	probably benign	Het
Canx	A	G	11: 50,301,812	L325P	probably damaging	Het
Ccpg1	G	A	9: 73,013,044	S647N	probably benign	Het
Cdc37l1	T	G	19: 29,011,943	S267A	possibly damaging	Het
Ces1f	A	T	8: 93,265,760	C354*	probably null	Het
Col4a3bp	A	G	13: 96,629,067	T447A	possibly damaging	Het
Cpne1	A	T	2: 156,074,364	V350D	probably damaging	Het
Ctdsp2	A	G	10: 126,996,457	T262A	probably benign	Het
Cypt4	A	G	9: 24,625,300	K29E	possibly damaging	Het
Dlg2	T	C	7: 92,088,576	V422A	probably damaging	Het
Dmxl2	A	G	9: 54,378,757	S2715P	probably benign	Het
Dnah3	T	A	7: 119,924,903	K3953N	probably damaging	Het
Dnmt1	A	G	9: 20,918,480	V647A	probably damaging	Het
Duox2	A	G	2: 122,295,136	V330A	probably benign	Het
Dusp8	T	A	7: 142,089,993	Q61L	possibly damaging	Het
Dync2h1	T	C	9: 7,016,791	D3573G	probably damaging	Het
Ears2	G	C	7: 122,044,377	T426S	probably benign	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Fam91a1	G	A	15: 58,448,394	S645N	probably benign	Het
Fat3	A	T	9: 15,922,675	L4207Q	possibly damaging	Het
Fbxo38	A	G	18: 62,540,971	M13T	probably benign	Het
Fbxo48	G	T	11: 16,954,329	L160F	possibly damaging	Het
Fer1l4	G	A	2: 156,037,366	Q906*	probably null	Het
Fpr2	C	A	17: 17,893,047	H102N	probably benign	Het
Gm10134	T	A	2: 28,506,360		probably benign	Het
Gm14085	C	A	2: 122,522,778	L480I	probably benign	Het
Gpr107	A	G	2: 31,214,251	T523A	probably benign	Het
Grin3a	G	A	4: 49,719,313	P811L	probably damaging	Het
Hivep1	A	T	13: 42,164,395		probably null	Het
Hmcn2	A	G	2: 31,460,321	T5077A	probably benign	Het
Hpse	C	T	5: 100,708,724	W136*	probably null	Het
Ifitm3	T	C	7: 141,010,641	N2S	probably benign	Het
Ifnar2	T	A	16: 91,404,198	D442E	possibly damaging	Het
Jade1	T	A	3: 41,591,702	I54N	probably damaging	Het
Jag1	A	T	2: 137,095,544	H303Q	possibly damaging	Het
Kcnh4	T	C	11: 100,752,250	D397G	probably damaging	Het
Kcnj1	A	G	9: 32,396,723	R148G	probably damaging	Het
Lct	T	G	1: 128,311,617	K277N	possibly damaging	Het
Loxl3	A	G	6: 83,050,612	M712V	probably damaging	Het
Ly75	A	G	2: 60,303,641	C1547R	probably damaging	Het
Marcks	A	G	10: 37,138,457	S27P	probably damaging	Het
Mef2c	A	G	13: 83,662,413	T347A	probably benign	Het
Mmp3	C	T	9: 7,451,759	R366*	probably null	Het
Mrgprx2	T	C	7: 48,483,005	T22A	probably benign	Het
Msc	C	A	1: 14,755,420	R110L	probably damaging	Het
Myh11	A	T	16: 14,208,008	V1366D	possibly damaging	Het
Ncf1	A	G	5: 134,221,805	L373P	probably damaging	Het
Neb	A	T	2: 52,189,861	I85N	probably damaging	Het
Nfkb1	A	G	3: 135,612,542	V310A	possibly damaging	Het
Nop2	T	C	6: 125,144,361	V702A	probably benign	Het
Nudt12	A	G	17: 59,003,439	W390R	probably damaging	Het
Olfr1115	C	T	2: 87,252,483	P182L	probably benign	Het
Olfr1418	T	A	19: 11,855,177	I259F	probably damaging	Het
Olfr160	A	T	9: 37,712,021	V86E	probably damaging	Het
Olfr251	A	T	9: 38,377,985	I29F	probably benign	Het
Olfr366	G	T	2: 37,219,587	A33S	possibly damaging	Het
Olfr430	A	T	1: 174,069,470	K57N	probably benign	Het
Olfr558	T	C	7: 102,709,346	L29P	probably damaging	Het
Olfr739	T	A	14: 50,425,389	V290E	possibly damaging	Het
Olfr784	A	G	10: 129,387,764	I44V	probably benign	Het
Olfr971	A	G	9: 39,839,830	Y132C	possibly damaging	Het
Otub2	G	A	12: 103,392,796		probably benign	Het
Pck2	A	G	14: 55,545,231	E339G	probably damaging	Het
Pdcd7	G	A	9: 65,358,692	W477*	probably null	Het
Pdpk1	G	A	17: 24,098,140	Q250*	probably null	Het
Pigb	T	A	9: 73,039,545	H16L	probably benign	Het
Pitpnm1	T	C	19: 4,103,435	F197S	probably damaging	Het
Plekhh2	T	C	17: 84,557,466	V94A	probably benign	Het
Pnpla7	C	A	2: 25,041,019	P882Q	probably damaging	Het
Pold2	A	G	11: 5,876,760	L58P	probably damaging	Het
Pomt1	C	G	2: 32,244,299	Y277*	probably null	Het
Prex2	A	G	1: 11,139,980	D548G	probably damaging	Het
Prkra	T	G	2: 76,639,278	T146P	probably damaging	Het
Prss51	T	A	14: 64,097,094	V108E	probably damaging	Het
Rai2	A	G	X: 161,778,640	N363S	probably benign	Het
Ranbp17	A	T	11: 33,219,241	V991D	possibly damaging	Het
Riox2	T	A	16: 59,486,616	M290K	probably benign	Het
Rnpepl1	T	A	1: 92,917,192	L402Q	probably damaging	Het
S1pr2	T	C	9: 20,967,594	T313A	probably benign	Het
Sesn2	A	G	4: 132,499,264	I173T	probably damaging	Het
Setx	T	G	2: 29,134,033		probably null	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Sgsm3	T	C	15: 81,007,999	V256A	probably benign	Het
Shroom4	T	A	X: 6,585,469	C894*	probably null	Het
Slc13a5	T	A	11: 72,259,077	E159D	probably benign	Het
Slc16a7	A	G	10: 125,294,604	Y71H	possibly damaging	Het
Slc4a7	T	C	14: 14,773,345	F772L	possibly damaging	Het
Snapc4	A	G	2: 26,374,503	S275P	probably benign	Het
Soga3	A	G	10: 29,196,770	D686G	probably benign	Het
Sorl1	T	C	9: 42,057,284	T558A	possibly damaging	Het
Sspo	C	T	6: 48,462,253	P1612S	probably benign	Het
Stard9	A	G	2: 120,700,630	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,815,403	D16E	probably benign	Het
Supv3l1	A	T	10: 62,430,596	N600K	possibly damaging	Het
Syne1	C	T	10: 5,041,494	V557I	probably benign	Het
Tanc2	T	A	11: 105,776,846	D84E	probably damaging	Het
Tep1	A	T	14: 50,868,317	L82Q	probably damaging	Het
Tfip11	T	C	5: 112,331,220		probably null	Het
Thtpa	G	T	14: 55,095,833	R125L	probably damaging	Het
Tm9sf1	C	T	14: 55,642,844	G32D	possibly damaging	Het
Tpd52	A	T	3: 8,931,195		probably null	Het
Traf6	T	A	2: 101,684,755	C85*	probably null	Het
Trim68	T	G	7: 102,678,783	D321A	probably damaging	Het
Trmt6	C	A	2: 132,808,783	A302S	probably benign	Het
Ttbk1	T	C	17: 46,447,632	D692G	probably benign	Het
Ttc17	A	T	2: 94,303,640	W1067R	probably damaging	Het
Ttc6	T	A	12: 57,643,035		probably null	Het
Txnrd2	T	G	16: 18,477,692	I468S	probably damaging	Het
Ube2b	A	T	11: 51,988,644	Y100N	probably damaging	Het
Ucn3	A	T	13: 3,941,474	F59L	probably benign	Het
Uggt1	A	G	1: 36,184,412	Y599H	probably damaging	Het
Ulk3	T	A	9: 57,590,740	I108N	possibly damaging	Het
Vav3	A	G	3: 109,527,475	M441V	possibly damaging	Het
Vmn2r1	T	A	3: 64,101,398	D499E	possibly damaging	Het
Vmn2r118	C	T	17: 55,611,565	G109D	probably benign	Het
Vmn2r5	T	A	3: 64,509,510	M76L	probably benign	Het
Vwa3a	A	G	7: 120,790,142	K68E	possibly damaging	Het
Zcchc6	A	T	13: 59,789,846		probably null	Het
Zmiz1	A	T	14: 25,649,813	Y459F	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
R6177:Tmcc3	UTSW	10	94582387	missense	probably damaging	0.97
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'- TTGGCAGTGCAGATAACATTGC -3'
(R):5'- CCTGCTTCTAAAAGGAATCCCAG -3'

Sequencing Primer
(F):5'- GCTCACTTGAAGAATTCCCTGGAAG -3'
(R):5'- CCCAGAGGGAGACTTCTATGTAC -3'

Posted On

2016-08-04