Mutagenetix > Incidental Mutation

Incidental Mutation 'R8158:Tmcc1'

633360

Institutional Source

Beutler Lab

Gene Symbol

Tmcc1

Ensembl Gene

ENSMUSG00000030126

Gene Name

transmembrane and coiled coil domains 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R8158 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116018611-116193486 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116043474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 339 (H339L)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088896] [ENSMUST00000172510] [ENSMUST00000173110] [ENSMUST00000173140] [ENSMUST00000173548] [ENSMUST00000204353]

AlphaFold

Q69ZZ6

Predicted Effect

SMART Domains

Protein: ENSMUSP00000032222
Gene: ENSMUSG00000030126
AA Change: H339L

Domain	Start	End	E-Value	Type
low complexity region	153	164	N/A	INTRINSIC
Pfam:Tmemb_cc2	268	677	9.7e-170	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088896
AA Change: H299L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000086285
Gene: ENSMUSG00000030126
AA Change: H299L

Domain	Start	End	E-Value	Type
low complexity region	156	167	N/A	INTRINSIC
Pfam:Tmemb_cc2	227	636	2.3e-170	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172510

SMART Domains

Protein: ENSMUSP00000133665
Gene: ENSMUSG00000030126

Domain	Start	End	E-Value	Type
Pfam:Tmemb_cc2	1	188	6.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172909

SMART Domains

Protein: ENSMUSP00000134407
Gene: ENSMUSG00000030126

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173110

SMART Domains

Protein: ENSMUSP00000133794
Gene: ENSMUSG00000030126

Domain	Start	End	E-Value	Type
low complexity region	156	167	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173140

SMART Domains

Protein: ENSMUSP00000134455
Gene: ENSMUSG00000030126

Domain	Start	End	E-Value	Type
Pfam:Tmemb_cc2	1	79	6.1e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173548
AA Change: H120L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145456
Gene: ENSMUSG00000030126
AA Change: H120L

Domain	Start	End	E-Value	Type
Pfam:Tmemb_cc2	48	457	1.5e-167	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204353
AA Change: H124L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144971
Gene: ENSMUSG00000030126
AA Change: H124L

Domain	Start	End	E-Value	Type
Pfam:Tmemb_cc2	52	461	8.3e-171	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	T	A	8: 11,665,056	D46V	probably damaging	Het
Abl2	T	A	1: 156,642,069	S968T	probably benign	Het
Adcy8	T	C	15: 64,783,806	D608G	probably benign	Het
Adgb	C	T	10: 10,378,734	V1162M	probably benign	Het
Agrn	A	G	4: 156,173,889	V1040A	probably benign	Het
Amer3	A	T	1: 34,587,660	T327S	possibly damaging	Het
Apaf1	C	T	10: 91,059,658	C426Y	probably benign	Het
Bsn	T	C	9: 108,110,033	D2840G	unknown	Het
Camsap1	A	T	2: 25,944,428	C406*	probably null	Het
Cbr2	A	T	11: 120,730,297	M158K	probably damaging	Het
Ccdc105	G	C	10: 78,748,675	Q338E	probably benign	Het
Cgrrf1	T	C	14: 46,853,735	S239P	probably benign	Het
Clnk	C	A	5: 38,794,911		probably null	Het
Csad	T	C	15: 102,177,762	M445V	probably damaging	Het
Dnajb7	T	A	15: 81,407,399	N246Y	probably damaging	Het
Dok6	T	C	18: 89,473,947	I169V	probably benign	Het
Hist1h2bm	T	C	13: 21,722,461	Y122H	probably benign	Het
Il1f10	T	G	2: 24,291,255	I11R	possibly damaging	Het
Irs1	C	T	1: 82,289,533	V321M	probably damaging	Het
Itga9	T	C	9: 118,877,143	F938L	probably damaging	Het
Kif7	T	C	7: 79,704,694	D781G	probably damaging	Het
Klhl41	A	T	2: 69,671,161	N322I	probably damaging	Het
Krtap31-1	T	G	11: 99,908,075	C35G	possibly damaging	Het
Lsm11	A	T	11: 45,933,997	D234E	probably benign	Het
Med6	T	C	12: 81,573,903	K223R	probably benign	Het
Mfsd4b2	G	A	10: 39,922,068	T97I	probably benign	Het
Mrgpra1	A	T	7: 47,335,456	C158*	probably null	Het
Nr2e1	T	C	10: 42,582,885	T8A	probably benign	Het
Oas2	T	C	5: 120,749,773	M1V	probably null	Het
Olfr1048	T	C	2: 86,236,160	Y218C	probably damaging	Het
Olfr1132	T	A	2: 87,634,889	N286I	probably damaging	Het
Olfr307	T	A	7: 86,335,677	I240F	probably benign	Het
Olfr393	T	A	11: 73,847,871	M85L	probably benign	Het
Olfr60	T	C	7: 140,345,249	I247V	probably benign	Het
Otof	C	T	5: 30,380,194	G1257D	probably benign	Het
Phf2	T	C	13: 48,817,760	T479A	probably benign	Het
Pik3c2a	T	C	7: 116,342,997	N1516S	probably benign	Het
Qrich1	C	A	9: 108,556,037	T622K	probably damaging	Het
Rasip1	A	G	7: 45,632,519	K482R	probably damaging	Het
Rgl2	T	C	17: 33,936,944	F698L	probably benign	Het
Scarb1	T	C	5: 125,303,137	D124G	probably benign	Het
Sclt1	A	G	3: 41,671,482	I350T	probably benign	Het
Sec23ip	T	G	7: 128,767,640	V696G	probably damaging	Het
Serpina1e	G	T	12: 103,951,095	T105K	probably benign	Het
Sin3a	A	G	9: 57,113,544		probably null	Het
Slc34a2	A	G	5: 53,060,840	T154A	probably damaging	Het
Slc9a3	T	C	13: 74,155,122	L178P	probably damaging	Het
Smarca2	A	C	19: 26,682,048	I913L	probably benign	Het
Tcea3	G	A	4: 136,273,716		probably null	Het
Trpm2	G	T	10: 77,947,897	H247Q	probably damaging	Het
Tyr	T	A	7: 87,472,516	D356V	probably damaging	Het
Vmn2r54	A	T	7: 12,615,961	C565S	probably damaging	Het
Vmn2r82	A	C	10: 79,377,802	N74T	probably benign	Het
Zcchc4	T	C	5: 52,815,918	Y375H	probably damaging	Het
Zfhx3	T	A	8: 108,948,721	D2134E	possibly damaging	Het
Zfhx4	T	A	3: 5,398,950	Y1414*	probably null	Het
Zfp282	A	T	6: 47,890,692	E267D	possibly damaging	Het
Zfp442	A	T	2: 150,409,176	C269S	possibly damaging	Het
Zp3	T	A	5: 135,985,564	S246T	probably benign	Het

Other mutations in Tmcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Tmcc1	APN	6	116043027	missense	probably damaging	0.99
IGL01580:Tmcc1	APN	6	116042985	missense	possibly damaging	0.91
IGL02858:Tmcc1	APN	6	116133888	missense	probably damaging	0.99
IGL03226:Tmcc1	APN	6	116133976	missense	probably damaging	0.99
Dominus_dei	UTSW	6	116134237	nonsense	probably null
FR4976:Tmcc1	UTSW	6	116193380	start gained	probably benign
IGL02988:Tmcc1	UTSW	6	116042928	missense	probably damaging	1.00
PIT4581001:Tmcc1	UTSW	6	116043456	missense
R0522:Tmcc1	UTSW	6	116042870	frame shift	probably null
R0654:Tmcc1	UTSW	6	116042990	missense	probably benign	0.03
R0721:Tmcc1	UTSW	6	116042870	frame shift	probably null
R1392:Tmcc1	UTSW	6	116022110	missense	possibly damaging	0.84
R1573:Tmcc1	UTSW	6	116133963	missense	probably damaging	0.99
R1644:Tmcc1	UTSW	6	116133865	missense	probably damaging	1.00
R2062:Tmcc1	UTSW	6	116043058	missense	probably benign	0.01
R2065:Tmcc1	UTSW	6	116042870	frame shift	probably null
R2214:Tmcc1	UTSW	6	116042870	frame shift	probably null
R2240:Tmcc1	UTSW	6	116042870	frame shift	probably null
R2399:Tmcc1	UTSW	6	116042870	frame shift	probably null
R3683:Tmcc1	UTSW	6	116042870	frame shift	probably null
R3722:Tmcc1	UTSW	6	116133822	missense	possibly damaging	0.83
R3926:Tmcc1	UTSW	6	116042913	missense	probably damaging	1.00
R4082:Tmcc1	UTSW	6	116043480	missense	probably damaging	1.00
R4155:Tmcc1	UTSW	6	116133804	missense	probably benign	0.18
R4619:Tmcc1	UTSW	6	116043286	missense	probably damaging	1.00
R5246:Tmcc1	UTSW	6	116043420	missense	probably damaging	1.00
R5568:Tmcc1	UTSW	6	116022110	missense	possibly damaging	0.84
R6364:Tmcc1	UTSW	6	116043761	start gained	probably benign
R7238:Tmcc1	UTSW	6	116134237	nonsense	probably null
R7257:Tmcc1	UTSW	6	116107338	missense	probably benign	0.27
R7603:Tmcc1	UTSW	6	116043131	nonsense	probably null
R7693:Tmcc1	UTSW	6	116024882	missense
R7694:Tmcc1	UTSW	6	116133844	missense
R7698:Tmcc1	UTSW	6	116043802	nonsense	probably null
R7798:Tmcc1	UTSW	6	116043578	missense
R8808:Tmcc1	UTSW	6	116134137	missense
R8808:Tmcc1	UTSW	6	116134138	missense
R9222:Tmcc1	UTSW	6	116043088	missense
R9369:Tmcc1	UTSW	6	116134089	missense	probably benign	0.16
R9753:Tmcc1	UTSW	6	116022110	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- AATTTGTTCCGAATCAGTGAGGC -3'
(R):5'- AGATCAAGATTGCACAGACAGC -3'

Sequencing Primer
(F):5'- GTTCCGAATCAGTGAGGCAATCTC -3'
(R):5'- GATTGCACAGACAGCCCGAG -3'

Posted On

2020-06-30