Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01347:Tmcc3'

75104

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01347

Quality Score

Status

Chromosome

Chromosomal Location

94311949-94590956 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94582285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 305 (L305P)

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: L336P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063264
Gene: ENSMUSG00000020023
AA Change: L336P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117460
AA Change: L305P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112669
Gene: ENSMUSG00000020023
AA Change: L305P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117929
AA Change: L305P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112401
Gene: ENSMUSG00000020023
AA Change: L305P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121471
AA Change: L305P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113122
Gene: ENSMUSG00000020023
AA Change: L305P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,932,543	Y574F	probably benign	Het
Apc	C	T	18: 34,317,670	P2506S	probably damaging	Het
Bdp1	T	A	13: 100,070,203	K610N	possibly damaging	Het
Bri3bp	T	G	5: 125,454,517	C176G	probably damaging	Het
Carnmt1	A	G	19: 18,691,454	I248V	probably benign	Het
Ccdc88b	A	G	19: 6,845,086	L1475P	probably damaging	Het
Cfap100	C	T	6: 90,406,121	V511M	possibly damaging	Het
Chchd3	T	C	6: 32,803,903	N78S	probably benign	Het
Cnnm4	G	A	1: 36,498,034	E480K	possibly damaging	Het
Cyp2d34	T	A	15: 82,616,777	I385F	possibly damaging	Het
D930048N14Rik	T	A	11: 51,654,788		probably benign	Het
Dgkg	A	T	16: 22,600,590	D53E	probably benign	Het
Dlx3	T	A	11: 95,120,533	L71H	probably damaging	Het
Egln2	A	C	7: 27,160,292	V332G	probably null	Het
Entpd2	A	G	2: 25,398,734	Q250R	probably benign	Het
Epyc	A	G	10: 97,674,731	D132G	probably damaging	Het
Fxr2	A	G	11: 69,652,288	D637G	probably benign	Het
Gapvd1	A	G	2: 34,706,696		probably null	Het
Gbp11	G	A	5: 105,331,328		probably benign	Het
Gm17175	A	T	14: 51,570,850	C162S	probably damaging	Het
Gm5499	C	T	17: 87,078,911		noncoding transcript	Het
Gm5724	A	T	6: 141,754,466	Y113*	probably null	Het
Gps1	T	C	11: 120,788,260	V378A	probably benign	Het
Grik1	C	T	16: 87,957,593	R368Q	probably benign	Het
Gsap	A	G	5: 21,226,320	E214G	probably benign	Het
Hist1h2bl	A	G	13: 21,715,894	Y84H	probably damaging	Het
Jdp2	T	C	12: 85,608,246	S28P	probably benign	Het
Kif26b	T	C	1: 178,870,675	F577S	probably damaging	Het
Kl	G	A	5: 150,980,665	G294D	probably damaging	Het
Lgsn	T	A	1: 31,203,960	D374E	probably damaging	Het
Lman1	T	C	18: 65,991,610	I353V	probably damaging	Het
Lmna	T	C	3: 88,484,963	H374R	probably benign	Het
Lrrc57	A	G	2: 120,608,805	S31P	probably benign	Het
Lum	T	A	10: 97,568,685	N147K	probably damaging	Het
Olfr430	T	C	1: 174,070,066	I256T	probably benign	Het
Olfr57	A	G	10: 79,035,611	T272A	probably benign	Het
P4ha3	C	A	7: 100,305,933	L332I	probably damaging	Het
Pelp1	A	G	11: 70,395,679	I541T	probably damaging	Het
Pja2	A	C	17: 64,313,028	S2A	probably benign	Het
Rhbdl3	T	C	11: 80,353,442	L325P	probably damaging	Het
Robo2	T	C	16: 74,352,856	D28G	probably damaging	Het
Rpa1	A	G	11: 75,307,285	Y470H	probably damaging	Het
Rtn3	T	C	19: 7,457,280	N430S	probably benign	Het
Scg2	T	A	1: 79,436,821	I62L	probably benign	Het
Scn5a	T	A	9: 119,562,441	K62*	probably null	Het
Sec23ip	T	C	7: 128,762,405	V469A	probably benign	Het
Shank1	A	G	7: 44,342,120	T663A	unknown	Het
Stab2	G	T	10: 86,901,703		probably null	Het
Tmem145	A	G	7: 25,314,835	N458S	probably damaging	Het
Tpr	G	A	1: 150,426,987	R1412Q	probably damaging	Het
Wdr1	A	T	5: 38,545,715	F173I	possibly damaging	Het
Wdr17	C	T	8: 54,651,345	V898I	probably benign	Het
Wdr64	A	T	1: 175,720,333	L145F	probably benign	Het
Wnt10b	A	G	15: 98,776,945		probably benign	Het
Zfyve26	A	T	12: 79,252,183		probably null	Het

Other mutations in Tmcc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07