Mutagenetix > Incidental Mutation

Incidental Mutation 'R9480:Tmc7'

716187

Institutional Source

Beutler Lab

Gene Symbol

Tmc7

Ensembl Gene

ENSMUSG00000042246

Gene Name

transmembrane channel-like gene family 7

Synonyms

1700030H01Rik, C630024K23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9480 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118135064-118183959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118141226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 635 (F635S)

Ref Sequence

ENSEMBL: ENSMUSP00000046927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044195]

AlphaFold

Q8C428

Predicted Effect

probably benign
Transcript: ENSMUST00000044195
AA Change: F635S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046927
Gene: ENSMUSG00000042246
AA Change: F635S

Domain	Start	End	E-Value	Type
transmembrane domain	167	189	N/A	INTRINSIC
transmembrane domain	216	238	N/A	INTRINSIC
transmembrane domain	258	280	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC
transmembrane domain	402	424	N/A	INTRINSIC
Pfam:TMC	484	595	5.2e-51	PFAM
transmembrane domain	599	621	N/A	INTRINSIC
transmembrane domain	664	686	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,211,889 (GRCm39)	W142R	probably damaging	Het
Abcc6	A	G	7: 45,629,197 (GRCm39)	S1350P	probably damaging	Het
Abraxas2	G	T	7: 132,473,323 (GRCm39)	V84L	probably benign	Het
Adam12	T	A	7: 133,736,470 (GRCm39)	I81F	probably damaging	Het
Adam22	A	G	5: 8,193,077 (GRCm39)	V376A	probably benign	Het
Anapc11	T	A	11: 120,496,176 (GRCm39)	I60N	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,690,420 (GRCm39)	V876E	possibly damaging	Het
Bcar3	C	T	3: 122,277,618 (GRCm39)	R21*	probably null	Het
Calb1	T	A	4: 15,885,608 (GRCm39)	S60T	probably benign	Het
Ceacam9	A	G	7: 16,457,783 (GRCm39)	T99A	probably damaging	Het
Cemip2	C	A	19: 21,775,622 (GRCm39)	H288Q	possibly damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cnot1	T	C	8: 96,497,338 (GRCm39)	D213G	possibly damaging	Het
Col23a1	T	A	11: 51,207,774 (GRCm39)	C105S	unknown	Het
Cxcl2	T	C	5: 91,052,029 (GRCm39)	V45A	possibly damaging	Het
Ddx21	T	C	10: 62,434,652 (GRCm39)	T36A	probably benign	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dus2	C	T	8: 106,757,052 (GRCm39)	Q81*	probably null	Het
Fat3	T	C	9: 15,942,703 (GRCm39)	D1223G	probably damaging	Het
Fgf3	G	T	7: 144,396,619 (GRCm39)	R211L	possibly damaging	Het
Galnt17	T	A	5: 130,935,576 (GRCm39)	E369V	probably damaging	Het
Gatad2a	T	C	8: 70,388,459 (GRCm39)	D76G	probably damaging	Het
Gin1	A	G	1: 97,705,198 (GRCm39)	E96G	probably damaging	Het
Gpr55	A	C	1: 85,868,977 (GRCm39)	Y201*	probably null	Het
Hgsnat	T	C	8: 26,442,029 (GRCm39)	N499D	possibly damaging	Het
Hipk2	G	T	6: 38,680,377 (GRCm39)	P988T	probably benign	Het
Hivep1	A	T	13: 42,337,058 (GRCm39)	Q2379L	probably damaging	Het
Kat14	T	A	2: 144,215,745 (GRCm39)	C77S	probably damaging	Het
Klhl25	T	C	7: 75,516,120 (GRCm39)	V342A	probably damaging	Het
Krt35	T	C	11: 99,986,609 (GRCm39)	Q135R	probably benign	Het
Lhfpl2	T	A	13: 94,310,733 (GRCm39)	M1K	probably null	Het
Lipk	T	A	19: 33,999,101 (GRCm39)	L132Q	probably damaging	Het
Lrrc39	T	A	3: 116,359,475 (GRCm39)	C7S	probably benign	Het
Ltb4r2	T	A	14: 56,000,089 (GRCm39)	W237R	probably damaging	Het
Mesp2	A	G	7: 79,461,034 (GRCm39)	I120V	probably damaging	Het
Mfsd6	A	G	1: 52,699,835 (GRCm39)	V771A	unknown	Het
Mtfmt	A	T	9: 65,351,181 (GRCm39)	T243S	possibly damaging	Het
Nlrp12	A	T	7: 3,288,993 (GRCm39)	C506*	probably null	Het
Ntng2	T	A	2: 29,137,997 (GRCm39)	Y19F	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Orc4	T	C	2: 48,795,563 (GRCm39)	T388A	probably benign	Het
P4hb	A	T	11: 120,463,551 (GRCm39)	V28D	probably damaging	Het
Phkb	T	G	8: 86,684,216 (GRCm39)	S424R	probably benign	Het
Poldip2	T	C	11: 78,411,988 (GRCm39)	L308S	probably damaging	Het
Prkd1	T	A	12: 50,435,283 (GRCm39)	E481D	probably benign	Het
Serping1	C	T	2: 84,600,487 (GRCm39)	S285N	probably benign	Het
Sh2d2a	A	C	3: 87,759,638 (GRCm39)	I350L	probably benign	Het
Siglecf	G	T	7: 43,001,666 (GRCm39)	V159L	possibly damaging	Het
Sspo	A	G	6: 48,470,820 (GRCm39)	N36S	probably damaging	Het
Sytl2	C	T	7: 90,020,718 (GRCm39)	T147M	possibly damaging	Het
Tmco1	C	T	1: 167,157,757 (GRCm39)	L175F		Het
Ttc39d	A	G	17: 80,524,139 (GRCm39)	H266R	probably benign	Het
Usp33	T	G	3: 152,079,086 (GRCm39)	I446R	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zbtb49	T	A	5: 38,358,409 (GRCm39)	T615S	possibly damaging	Het
Zbtb8a	G	T	4: 129,253,875 (GRCm39)	H206Q	probably benign	Het
Zfp180	A	G	7: 23,804,628 (GRCm39)	N349S	probably benign	Het
Zfp345	A	T	2: 150,315,212 (GRCm39)	C108*	probably null	Het
Zfp420	T	A	7: 29,575,497 (GRCm39)	H572Q	probably benign	Het
Zfp423	A	G	8: 88,631,115 (GRCm39)		probably null	Het
Zfp820	T	A	17: 22,037,994 (GRCm39)	T445S	possibly damaging	Het
Zim1	T	C	7: 6,681,050 (GRCm39)	I204M	probably benign	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	Het

Other mutations in Tmc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Tmc7	APN	7	118,151,985 (GRCm39)	missense	probably damaging	1.00
IGL01456:Tmc7	APN	7	118,146,533 (GRCm39)	splice site	probably benign
IGL01784:Tmc7	APN	7	118,146,538 (GRCm39)	critical splice donor site	probably null
IGL02158:Tmc7	APN	7	118,137,434 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Tmc7	UTSW	7	118,146,624 (GRCm39)	missense	possibly damaging	0.86
PIT4403001:Tmc7	UTSW	7	118,146,623 (GRCm39)	missense	probably benign	0.04
PIT4696001:Tmc7	UTSW	7	118,163,566 (GRCm39)	missense	probably benign	0.04
R1164:Tmc7	UTSW	7	118,141,247 (GRCm39)	missense	probably benign	0.01
R1169:Tmc7	UTSW	7	118,150,483 (GRCm39)	missense	probably benign	0.00
R1170:Tmc7	UTSW	7	118,150,483 (GRCm39)	missense	probably benign	0.00
R1420:Tmc7	UTSW	7	118,165,440 (GRCm39)	nonsense	probably null
R1885:Tmc7	UTSW	7	118,160,310 (GRCm39)	missense	possibly damaging	0.95
R1886:Tmc7	UTSW	7	118,160,310 (GRCm39)	missense	possibly damaging	0.95
R1887:Tmc7	UTSW	7	118,160,310 (GRCm39)	missense	possibly damaging	0.95
R1923:Tmc7	UTSW	7	118,144,850 (GRCm39)	missense	probably benign	0.08
R2220:Tmc7	UTSW	7	118,152,039 (GRCm39)	missense	possibly damaging	0.87
R4858:Tmc7	UTSW	7	118,142,565 (GRCm39)	missense	probably damaging	1.00
R5000:Tmc7	UTSW	7	118,158,077 (GRCm39)	critical splice donor site	probably null
R5038:Tmc7	UTSW	7	118,142,588 (GRCm39)	missense	probably damaging	1.00
R5075:Tmc7	UTSW	7	118,151,919 (GRCm39)	critical splice donor site	probably null
R5272:Tmc7	UTSW	7	118,160,276 (GRCm39)	missense	probably benign
R5691:Tmc7	UTSW	7	118,141,116 (GRCm39)	missense	probably benign
R5800:Tmc7	UTSW	7	118,138,663 (GRCm39)	missense	probably benign
R5889:Tmc7	UTSW	7	118,165,549 (GRCm39)	missense	probably benign	0.00
R5939:Tmc7	UTSW	7	118,144,950 (GRCm39)	missense	probably benign	0.33
R6251:Tmc7	UTSW	7	118,160,261 (GRCm39)	missense	possibly damaging	0.83
R6642:Tmc7	UTSW	7	118,144,834 (GRCm39)	nonsense	probably null
R6644:Tmc7	UTSW	7	118,137,385 (GRCm39)	missense	probably benign
R6814:Tmc7	UTSW	7	118,146,846 (GRCm39)	missense	probably benign	0.07
R6872:Tmc7	UTSW	7	118,146,846 (GRCm39)	missense	probably benign	0.07
R6967:Tmc7	UTSW	7	118,146,901 (GRCm39)	missense	probably benign	0.00
R7165:Tmc7	UTSW	7	118,155,157 (GRCm39)	missense	probably benign	0.00
R7492:Tmc7	UTSW	7	118,141,189 (GRCm39)	missense	probably benign	0.00
R7543:Tmc7	UTSW	7	118,144,979 (GRCm39)	missense	probably benign	0.01
R8048:Tmc7	UTSW	7	118,165,468 (GRCm39)	missense	probably benign
R8962:Tmc7	UTSW	7	118,160,228 (GRCm39)	missense	probably benign	0.00
R8964:Tmc7	UTSW	7	118,160,228 (GRCm39)	missense	probably benign	0.00
R8966:Tmc7	UTSW	7	118,160,228 (GRCm39)	missense	probably benign	0.00
R8967:Tmc7	UTSW	7	118,160,228 (GRCm39)	missense	probably benign	0.00
R9614:Tmc7	UTSW	7	118,141,160 (GRCm39)	missense	probably benign	0.01
R9743:Tmc7	UTSW	7	118,150,452 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGATTCCCAAGTGAGAGGAG -3'
(R):5'- GACTATTGTAAATGCCTGTGCTGG -3'

Sequencing Primer
(F):5'- AGATGTATGTACTGGCCTGCTC -3'
(R):5'- AGACCTCTCAGCCTGTGC -3'

Posted On

2022-07-18