Mutagenetix > Incidental Mutation

Incidental Mutation 'R6364:Tmcc1'

513405

Institutional Source

Beutler Lab

Gene Symbol

Tmcc1

Ensembl Gene

ENSMUSG00000030126

Gene Name

transmembrane and coiled coil domains 1

Synonyms

3632431M01Rik

MMRRC Submission

044514-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

R6364 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115995572-116170447 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 116020722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134455 (fasta)

Gene Model

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

AlphaFold

Q69ZZ6

Predicted Effect

silent
Transcript: ENSMUST00000032222

SMART Domains

Protein: ENSMUSP00000032222
Gene: ENSMUSG00000030126

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

silent
Transcript: ENSMUST00000088896

SMART Domains

Protein: ENSMUSP00000086285
Gene: ENSMUSG00000030126

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

silent
Transcript: ENSMUST00000173548

SMART Domains

Protein: ENSMUSP00000145456
Gene: ENSMUSG00000030126

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

Predicted Effect

silent
Transcript: ENSMUST00000204353

SMART Domains

Protein: ENSMUSP00000144971
Gene: ENSMUSG00000030126

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,869,673 (GRCm39)	Y234C	possibly damaging	Het
Ambra1	C	A	2: 91,603,661 (GRCm39)	H548Q	possibly damaging	Het
Ap3d1	T	C	10: 80,546,328 (GRCm39)		probably null	Het
Apol11b	A	G	15: 77,522,258 (GRCm39)	V13A	possibly damaging	Het
Arhgdib	C	T	6: 136,909,253 (GRCm39)		probably null	Het
B3galt1	T	A	2: 67,949,016 (GRCm39)	S244T	probably damaging	Het
Bace2	A	G	16: 97,214,633 (GRCm39)	I274V	probably benign	Het
Bfsp2	A	T	9: 103,325,827 (GRCm39)	V272D	probably damaging	Het
Blm	A	T	7: 80,144,274 (GRCm39)	C782*	probably null	Het
Cfi	G	A	3: 129,666,495 (GRCm39)	S406N	probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cic	C	A	7: 24,972,248 (GRCm39)	H660N	possibly damaging	Het
Cops3	A	G	11: 59,726,230 (GRCm39)		probably benign	Het
Dlec1	G	A	9: 118,950,939 (GRCm39)	V502I	possibly damaging	Het
Dync2i1	A	T	12: 116,205,352 (GRCm39)	D412E	probably damaging	Het
Epop	A	G	11: 97,519,513 (GRCm39)	S199P	probably benign	Het
Evi5	G	T	5: 107,989,979 (GRCm39)	P80Q	probably damaging	Het
Faf1	T	C	4: 109,818,997 (GRCm39)	V623A	possibly damaging	Het
Fam83c	T	C	2: 155,676,443 (GRCm39)	D109G	probably damaging	Het
Fam83d	T	C	2: 158,625,179 (GRCm39)		probably null	Het
Flacc1	G	T	1: 58,697,531 (GRCm39)	A403D	probably damaging	Het
Foxn3	T	C	12: 99,354,952 (GRCm39)	N71D	probably benign	Het
Gm7298	A	G	6: 121,756,402 (GRCm39)	R1016G	possibly damaging	Het
Grin2d	T	C	7: 45,507,878 (GRCm39)	E396G	possibly damaging	Het
Htra2	C	A	6: 83,030,027 (GRCm39)	V311F	probably damaging	Het
Kif6	A	T	17: 49,927,651 (GRCm39)	T33S	probably benign	Het
Kmt2c	T	C	5: 25,514,634 (GRCm39)	I3070V	probably null	Het
Krtap5-2	A	T	7: 141,728,800 (GRCm39)	C293*	probably null	Het
Lrp3	T	A	7: 34,903,134 (GRCm39)	D404V	probably benign	Het
LTO1	A	G	7: 144,473,005 (GRCm39)	D105G	probably benign	Het
Mc2r	T	G	18: 68,540,607 (GRCm39)	I229L	probably benign	Het
Mtnr1b	A	G	9: 15,774,300 (GRCm39)	M253T	possibly damaging	Het
Nfat5	A	G	8: 108,094,909 (GRCm39)	N531S	probably benign	Het
Niban3	G	A	8: 72,051,733 (GRCm39)	G23S	probably benign	Het
Npr2	T	A	4: 43,643,622 (GRCm39)	I550N	probably damaging	Het
Npy6r	T	C	18: 44,409,578 (GRCm39)	I333T	possibly damaging	Het
Nup88	C	T	11: 70,838,612 (GRCm39)	R468Q	probably benign	Het
Nup98	G	A	7: 101,825,522 (GRCm39)	T422I	probably damaging	Het
Or10aa1	T	A	1: 173,869,778 (GRCm39)	H87Q	possibly damaging	Het
Otud4	A	G	8: 80,372,970 (GRCm39)	N96S	probably damaging	Het
Paqr6	T	C	3: 88,273,265 (GRCm39)	F86L	probably damaging	Het
Ppp4r3b	A	T	11: 29,138,035 (GRCm39)	T90S	probably benign	Het
Ptbp2	A	T	3: 119,534,091 (GRCm39)	N23K	probably damaging	Het
Ralgapb	G	T	2: 158,304,029 (GRCm39)	G596V	probably damaging	Het
Rdm1	G	A	11: 101,521,068 (GRCm39)	R94H	probably benign	Het
Rergl	A	T	6: 139,477,746 (GRCm39)	F28I	probably damaging	Het
Rif1	G	T	2: 51,997,681 (GRCm39)	S1000I	probably damaging	Het
Rnf141	C	T	7: 110,420,516 (GRCm39)	A163T	possibly damaging	Het
Scaf4	G	A	16: 90,057,136 (GRCm39)	Q72*	probably null	Het
Sdk1	G	T	5: 141,948,464 (GRCm39)	S603I	probably benign	Het
Sdsl	T	C	5: 120,598,674 (GRCm39)	I147M	probably damaging	Het
Serpina6	T	C	12: 103,620,495 (GRCm39)	N85D	probably benign	Het
Serpinf2	A	G	11: 75,327,315 (GRCm39)	I204T	probably damaging	Het
Shank2	A	G	7: 143,964,146 (GRCm39)	S795G	probably benign	Het
Simc1	C	T	13: 54,672,413 (GRCm39)	Q254*	probably null	Het
Slc30a3	G	A	5: 31,246,083 (GRCm39)	P216S	possibly damaging	Het
Smim14	T	A	5: 65,610,639 (GRCm39)	I53F	probably benign	Het
Sp3	T	C	2: 72,801,285 (GRCm39)	T243A	probably benign	Het
Srpk2	A	G	5: 23,745,465 (GRCm39)	F164L	probably damaging	Het
Stard9	T	C	2: 120,543,910 (GRCm39)	F4403L	probably damaging	Het
Tbc1d30	T	C	10: 121,130,630 (GRCm39)	T267A	possibly damaging	Het
Tgm7	T	A	2: 120,926,878 (GRCm39)	R424*	probably null	Het
Tmbim6	T	C	15: 99,304,066 (GRCm39)	L113P	probably damaging	Het
Tomm7	A	G	5: 24,049,028 (GRCm39)	L15P	probably damaging	Het
Tpcn1	T	C	5: 120,691,875 (GRCm39)	Y263C	probably damaging	Het
Trim34b	T	C	7: 103,985,733 (GRCm39)	F456S	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vmn2r108	A	G	17: 20,691,260 (GRCm39)	I421T	probably benign	Het
Wdr43	A	G	17: 71,964,649 (GRCm39)	E676G	probably damaging	Het
Zcchc14	G	T	8: 122,331,598 (GRCm39)		probably benign	Het
Zfp64	C	A	2: 168,754,186 (GRCm39)	G25V	probably damaging	Het
Zswim8	C	A	14: 20,763,079 (GRCm39)	P326H	probably damaging	Het

Other mutations in Tmcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Tmcc1	APN	6	116,019,988 (GRCm39)	missense	probably damaging	0.99
IGL01580:Tmcc1	APN	6	116,019,946 (GRCm39)	missense	possibly damaging	0.91
IGL02858:Tmcc1	APN	6	116,110,849 (GRCm39)	missense	probably damaging	0.99
IGL03226:Tmcc1	APN	6	116,110,937 (GRCm39)	missense	probably damaging	0.99
Dominus_dei	UTSW	6	116,111,198 (GRCm39)	nonsense	probably null
FR4976:Tmcc1	UTSW	6	116,170,341 (GRCm39)	start gained	probably benign
IGL02988:Tmcc1	UTSW	6	116,019,889 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Tmcc1	UTSW	6	116,020,417 (GRCm39)	missense
R0522:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R0654:Tmcc1	UTSW	6	116,019,951 (GRCm39)	missense	probably benign	0.03
R0721:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R1392:Tmcc1	UTSW	6	115,999,071 (GRCm39)	missense	possibly damaging	0.84
R1573:Tmcc1	UTSW	6	116,110,924 (GRCm39)	missense	probably damaging	0.99
R1644:Tmcc1	UTSW	6	116,110,826 (GRCm39)	missense	probably damaging	1.00
R2062:Tmcc1	UTSW	6	116,020,019 (GRCm39)	missense	probably benign	0.01
R2065:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R2214:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R2240:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R2399:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R3683:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R3722:Tmcc1	UTSW	6	116,110,783 (GRCm39)	missense	possibly damaging	0.83
R3926:Tmcc1	UTSW	6	116,019,874 (GRCm39)	missense	probably damaging	1.00
R4082:Tmcc1	UTSW	6	116,020,441 (GRCm39)	missense	probably damaging	1.00
R4155:Tmcc1	UTSW	6	116,110,765 (GRCm39)	missense	probably benign	0.18
R4619:Tmcc1	UTSW	6	116,020,247 (GRCm39)	missense	probably damaging	1.00
R5246:Tmcc1	UTSW	6	116,020,381 (GRCm39)	missense	probably damaging	1.00
R5568:Tmcc1	UTSW	6	115,999,071 (GRCm39)	missense	possibly damaging	0.84
R7238:Tmcc1	UTSW	6	116,111,198 (GRCm39)	nonsense	probably null
R7257:Tmcc1	UTSW	6	116,084,299 (GRCm39)	missense	probably benign	0.27
R7603:Tmcc1	UTSW	6	116,020,092 (GRCm39)	nonsense	probably null
R7693:Tmcc1	UTSW	6	116,001,843 (GRCm39)	missense
R7694:Tmcc1	UTSW	6	116,110,805 (GRCm39)	missense
R7698:Tmcc1	UTSW	6	116,020,763 (GRCm39)	nonsense	probably null
R7798:Tmcc1	UTSW	6	116,020,539 (GRCm39)	missense
R8158:Tmcc1	UTSW	6	116,020,435 (GRCm39)	missense
R8808:Tmcc1	UTSW	6	116,111,099 (GRCm39)	missense
R8808:Tmcc1	UTSW	6	116,111,098 (GRCm39)	missense
R9222:Tmcc1	UTSW	6	116,020,049 (GRCm39)	missense
R9369:Tmcc1	UTSW	6	116,111,050 (GRCm39)	missense	probably benign	0.16
R9753:Tmcc1	UTSW	6	115,999,071 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

Posted On

2018-04-27