Mutagenetix > Incidental Mutation

Incidental Mutation 'R5889:Tmc7'

456221

Institutional Source

Beutler Lab

Gene Symbol

Tmc7

Ensembl Gene

ENSMUSG00000042246

Gene Name

transmembrane channel-like gene family 7

Synonyms

1700030H01Rik, C630024K23Rik

MMRRC Submission

044090-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118135064-118183959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 118165549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 55 (L55R)

Ref Sequence

ENSEMBL: ENSMUSP00000046927 (fasta)

Gene Model

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

AlphaFold

Q8C428

Predicted Effect

probably benign
Transcript: ENSMUST00000044195
AA Change: L55R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046927
Gene: ENSMUSG00000042246
AA Change: L55R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153635

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,244,461 (GRCm39)	E297G	probably damaging	Het
Astn1	C	T	1: 158,427,950 (GRCm39)	P707L	possibly damaging	Het
Cep290	T	C	10: 100,334,936 (GRCm39)	S319P	possibly damaging	Het
Chrna4	A	C	2: 180,670,451 (GRCm39)	L435W	probably damaging	Het
Cilp	C	A	9: 65,187,625 (GRCm39)	A1240D	possibly damaging	Het
Col17a1	A	G	19: 47,637,511 (GRCm39)	F1249S	possibly damaging	Het
Creb3l3	T	C	10: 80,928,367 (GRCm39)		probably benign	Het
Cyp4f40	C	A	17: 32,894,731 (GRCm39)	T432N	probably benign	Het
Dsg1c	T	G	18: 20,416,658 (GRCm39)	I853R	possibly damaging	Het
Ebna1bp2	T	A	4: 118,478,620 (GRCm39)	D34E	probably damaging	Het
Edc4	C	T	8: 106,614,654 (GRCm39)	T112I	possibly damaging	Het
Enpep	T	A	3: 129,106,227 (GRCm39)	Y333F	probably damaging	Het
Exoc6	A	G	19: 37,570,693 (GRCm39)	H291R	probably damaging	Het
Fbln5	G	T	12: 101,731,485 (GRCm39)	N236K	probably damaging	Het
Fndc8	A	T	11: 82,789,555 (GRCm39)	T238S	probably damaging	Het
Frem3	T	C	8: 81,340,917 (GRCm39)	V1070A	probably damaging	Het
Gabra4	A	T	5: 71,729,234 (GRCm39)	N515K	possibly damaging	Het
Gemin5	A	G	11: 58,013,181 (GRCm39)	V1422A	possibly damaging	Het
Gm10118	A	G	10: 63,762,890 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,252,281 (GRCm39)	D177G	probably damaging	Het
Gtf2h4	G	A	17: 35,981,792 (GRCm39)	P147L	possibly damaging	Het
Hgsnat	T	C	8: 26,453,395 (GRCm39)	D265G	probably damaging	Het
Hsd17b4	T	A	18: 50,310,276 (GRCm39)	L513Q	probably damaging	Het
Hsd17b7	A	T	1: 169,783,487 (GRCm39)	M307K	probably benign	Het
Hspa5	T	C	2: 34,664,629 (GRCm39)	V361A	probably damaging	Het
Iqgap2	A	G	13: 95,768,550 (GRCm39)	V1450A	probably benign	Het
Itpr3	A	G	17: 27,334,039 (GRCm39)	E2037G	probably damaging	Het
Itprid2	T	A	2: 79,488,072 (GRCm39)	D718E	probably damaging	Het
Lama5	T	C	2: 179,835,467 (GRCm39)		probably benign	Het
Manba	G	T	3: 135,230,359 (GRCm39)	G311*	probably null	Het
Mettl24	T	A	10: 40,622,486 (GRCm39)	V236E	probably benign	Het
Myh3	A	G	11: 66,977,201 (GRCm39)	D310G	probably damaging	Het
Ncoa4	A	T	14: 31,888,616 (GRCm39)		probably benign	Het
Nop56	G	T	2: 130,117,902 (GRCm39)	R126L	probably damaging	Het
Nos3	C	A	5: 24,573,775 (GRCm39)		probably benign	Het
Or13c7b	T	C	4: 43,820,492 (GRCm39)	M290V	possibly damaging	Het
Pcdhga3	T	A	18: 37,809,662 (GRCm39)	V705D	probably damaging	Het
Prom2	C	T	2: 127,371,331 (GRCm39)	A776T	possibly damaging	Het
Prss48	A	G	3: 85,905,492 (GRCm39)	I127T	probably damaging	Het
Rtca	T	C	3: 116,293,232 (GRCm39)	Y193C	possibly damaging	Het
Samd9l	T	C	6: 3,376,460 (GRCm39)	Y267C	probably damaging	Het
Scube3	A	G	17: 28,379,887 (GRCm39)	R272G	possibly damaging	Het
Sprr1a	G	T	3: 92,391,951 (GRCm39)	H17N	probably benign	Het
Stard3	G	C	11: 98,266,361 (GRCm39)	Q120H	probably benign	Het
Supt6	A	G	11: 78,103,574 (GRCm39)	I1377T	probably damaging	Het
Svop	A	T	5: 114,203,692 (GRCm39)	S30T	probably benign	Het
Syne2	T	A	12: 76,119,026 (GRCm39)	L5882*	probably null	Het
Tanc2	G	T	11: 105,812,633 (GRCm39)	R1359L	probably benign	Het
Trappc11	G	A	8: 47,972,613 (GRCm39)	A320V	probably benign	Het
Ttll8	G	C	15: 88,818,142 (GRCm39)	P178A	probably damaging	Het
Ttn	T	C	2: 76,560,993 (GRCm39)	E20809G	probably damaging	Het
Tubb2a	A	T	13: 34,259,451 (GRCm39)	V113E	possibly damaging	Het
Ube2d1	A	T	10: 71,095,699 (GRCm39)		probably benign	Het
Usp48	T	C	4: 137,343,723 (GRCm39)	V452A	probably benign	Het
Vldlr	T	A	19: 27,217,064 (GRCm39)	I39N	probably damaging	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Zyg11b	C	T	4: 108,094,577 (GRCm39)	W669*	probably null	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
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
R9480:Tmc7	UTSW	7	118,141,226 (GRCm39)	missense	probably benign
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'- CTCTCCCAGATCATAACATGGC -3'
(R):5'- GAAAAGAAGATTCAGCTTCCCTG -3'

Sequencing Primer
(F):5'- CCACTTCCAGGCAGCTATG -3'
(R):5'- AGAAGATTCAGCTTCCCTGTCATTG -3'

Posted On

2017-02-15