Mutagenetix > Incidental Mutation

Incidental Mutation 'R3722:Tmcc1'

258963

Institutional Source

Beutler Lab

Gene Symbol

Tmcc1

Ensembl Gene

ENSMUSG00000030126

Gene Name

transmembrane and coiled coil domains 1

Synonyms

3632431M01Rik

MMRRC Submission

040713-MU

Accession Numbers

Essential gene?

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

Stock #

R3722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115995572-116170447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116110783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 170 (E170G)

Ref Sequence

ENSEMBL: ENSMUSP00000134148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088896] [ENSMUST00000173031] [ENSMUST00000173110]

AlphaFold

Q69ZZ6

Predicted Effect

unknown
Transcript: ENSMUST00000032222
AA Change: E166G

SMART Domains

Protein: ENSMUSP00000032222
Gene: ENSMUSG00000030126
AA Change: E166G

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

probably benign
Transcript: ENSMUST00000088896
AA Change: E170G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000086285
Gene: ENSMUSG00000030126
AA Change: E170G

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

unknown
Transcript: ENSMUST00000172909
AA Change: E27G

SMART Domains

Protein: ENSMUSP00000134407
Gene: ENSMUSG00000030126
AA Change: E27G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173031
AA Change: E170G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134148
Gene: ENSMUSG00000030126
AA Change: E170G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173110
AA Change: E170G

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133794
Gene: ENSMUSG00000030126
AA Change: E170G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204637

Meta Mutation Damage Score

0.0736

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,216,254 (GRCm39)	S1485T	probably benign	Het
Akap9	A	G	5: 4,120,351 (GRCm39)	Y3589C	probably damaging	Het
Alkbh8	T	C	9: 3,385,153 (GRCm39)	Y482H	probably damaging	Het
Appl1	G	A	14: 26,649,801 (GRCm39)	T575M	probably damaging	Het
Arhgap21	T	C	2: 20,855,102 (GRCm39)	E1420G	probably damaging	Het
Asic3	A	T	5: 24,621,997 (GRCm39)	Y419F	probably benign	Het
Atg7	A	G	6: 114,672,624 (GRCm39)	Y279C	probably damaging	Het
Braf	G	A	6: 39,600,610 (GRCm39)	P616L	probably damaging	Het
Btnl2	T	C	17: 34,577,109 (GRCm39)	M88T	possibly damaging	Het
C1rb	T	A	6: 124,557,620 (GRCm39)	Y586N	probably damaging	Het
Cacna1s	T	C	1: 135,996,780 (GRCm39)	F127S	possibly damaging	Het
Cd47	A	G	16: 49,688,205 (GRCm39)	I42V	probably benign	Het
Cox8b	T	A	7: 140,478,918 (GRCm39)	K66*	probably null	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Dolpp1	T	C	2: 30,287,500 (GRCm39)	L204P	probably damaging	Het
Fam170a	C	T	18: 50,415,271 (GRCm39)	P306S	probably benign	Het
Fbxl12	A	T	9: 20,550,268 (GRCm39)		probably null	Het
Fndc3a	T	A	14: 72,777,648 (GRCm39)	I1186F	probably benign	Het
Gm12886	T	A	4: 121,274,667 (GRCm39)	D71V	probably damaging	Het
H3c8	T	C	13: 23,719,722 (GRCm39)	V36A	possibly damaging	Het
Ica1	A	G	6: 8,659,021 (GRCm39)		probably benign	Het
Ighv8-11	A	G	12: 115,530,771 (GRCm39)	I119T	possibly damaging	Het
Ism1	A	T	2: 139,573,931 (GRCm39)	R94*	probably null	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kcnk15	T	C	2: 163,700,214 (GRCm39)	L132P	probably damaging	Het
Lrmda	T	A	14: 22,077,399 (GRCm39)		probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mrtfb	C	T	16: 13,203,557 (GRCm39)	A201V	probably damaging	Het
Ncstn	G	A	1: 171,895,462 (GRCm39)	T562M	possibly damaging	Het
Nudt4	A	T	10: 95,385,367 (GRCm39)		probably null	Het
Omp	T	C	7: 97,794,420 (GRCm39)	N69S	probably benign	Het
Or10d3	A	C	9: 39,461,418 (GRCm39)	C250G	probably damaging	Het
Or4a75	A	T	2: 89,448,503 (GRCm39)	I11N	possibly damaging	Het
Pak1	C	T	7: 97,503,704 (GRCm39)	P13L	probably damaging	Het
Pde4d	T	A	13: 110,087,866 (GRCm39)	C744*	probably null	Het
Pelp1	T	C	11: 70,289,026 (GRCm39)	Y240C	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Ptprk	A	G	10: 28,259,619 (GRCm39)	D353G	probably damaging	Het
Ptprs	A	G	17: 56,724,485 (GRCm39)	F1152S	probably damaging	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rpn1	G	A	6: 88,067,282 (GRCm39)		probably null	Het
Rreb1	T	A	13: 38,131,074 (GRCm39)	D1409E	probably benign	Het
Sipa1l2	G	A	8: 126,200,323 (GRCm39)	H668Y	probably damaging	Het
Slc35a5	A	T	16: 44,967,685 (GRCm39)	I138N	probably damaging	Het
Slc35d1	T	C	4: 103,065,321 (GRCm39)	K187E	possibly damaging	Het
Slc44a2	A	T	9: 21,254,273 (GRCm39)	I212F	possibly damaging	Het
Slc7a1	G	A	5: 148,272,343 (GRCm39)	R445*	probably null	Het
Snapc4	A	G	2: 26,255,440 (GRCm39)	L1028P	probably benign	Het
Snrnp40	C	T	4: 130,262,068 (GRCm39)	T152I	possibly damaging	Het
Spata31f1a	T	C	4: 42,851,472 (GRCm39)	E228G	probably benign	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Tex2	C	T	11: 106,437,566 (GRCm39)	W203*	probably null	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttll6	A	G	11: 96,024,747 (GRCm39)	N46D	probably benign	Het
Txk	T	A	5: 72,865,078 (GRCm39)	K266*	probably null	Het
Uggt2	T	C	14: 119,278,930 (GRCm39)	E859G	probably damaging	Het
Uros	A	T	7: 133,304,120 (GRCm39)	M1K	probably null	Het
Vps13b	T	A	15: 35,671,528 (GRCm39)	I1677N	probably damaging	Het
Zbtb5	A	G	4: 44,994,863 (GRCm39)		probably null	Het
Zfp760	A	G	17: 21,941,143 (GRCm39)	Y106C	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
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
R6364:Tmcc1	UTSW	6	116,020,722 (GRCm39)	start gained	probably benign
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

PCR Primer
(F):5'- CAACATCCCATGATTGTTCTAACC -3'
(R):5'- GTGCCACCCAAGATGAAGAG -3'

Sequencing Primer
(F):5'- AGTCTCACATTGCATACACTGG -3'
(R):5'- GAGGGACAAGCTTGCATAGTAG -3'

Posted On

2015-01-23