Mutagenetix > Incidental Mutation

Incidental Mutation 'R5800:Tmc7'

447347

Institutional Source

Beutler Lab

Gene Symbol

Tmc7

Ensembl Gene

ENSMUSG00000042246

Gene Name

transmembrane channel-like gene family 7

Synonyms

MMRRC Submission

043389-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5800 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118535841-118584736 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118539440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 692 (V692A)

Ref Sequence

ENSEMBL: ENSMUSP00000046927 (fasta)

Gene Model

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

AlphaFold

Q8C428

Predicted Effect

probably benign
Transcript: ENSMUST00000044195
AA Change: V692A

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

SMART Domains

Protein: ENSMUSP00000046927
Gene: ENSMUSG00000042246
AA Change: V692A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	G	A	17: 23,717,992	P72S	probably damaging	Het
4932438A13Rik	A	G	3: 37,052,443	D4974G	probably damaging	Het
Abca12	A	T	1: 71,321,432	V540D	possibly damaging	Het
Adamts8	A	T	9: 30,954,482	D442V	probably damaging	Het
Casp4	G	A	9: 5,308,915		probably null	Het
Cfap45	T	A	1: 172,538,600	V30E	probably damaging	Het
Col6a4	A	G	9: 106,080,275	F117L	probably damaging	Het
Dnah7c	A	T	1: 46,647,015	T1810S	probably benign	Het
Drosha	C	T	15: 12,865,067	T627M	probably damaging	Het
Drosha	C	A	15: 12,902,647	A1001D	probably damaging	Het
Efhc1	G	A	1: 20,978,781	V473I	probably benign	Het
Ephx2	T	C	14: 66,107,302	K191R	probably benign	Het
Ero1lb	T	A	13: 12,602,301		probably null	Het
Esyt2	A	T	12: 116,370,188	D837V	possibly damaging	Het
Fip1l1	T	A	5: 74,546,081	D126E	possibly damaging	Het
Fyttd1	C	T	16: 32,891,288	R86C	probably damaging	Het
Gm12888	T	A	4: 121,319,428	T59S	probably damaging	Het
Gm34653	T	C	2: 34,838,642	F151S	possibly damaging	Het
Gm7353	A	T	7: 3,110,168		noncoding transcript	Het
Gpr153	C	T	4: 152,280,077	Q197*	probably null	Het
H2-T23	G	T	17: 36,031,604		probably benign	Het
Ighv1-16	T	A	12: 114,665,911	R85S	probably benign	Het
Ipcef1	T	A	10: 6,890,569	D376V	probably damaging	Het
Kdm1a	T	A	4: 136,573,070		probably null	Het
Klk1b27	A	T	7: 44,055,664	Q85L	probably benign	Het
Krt39	A	T	11: 99,521,145	D38E	probably benign	Het
L1td1	T	C	4: 98,733,762	L187P	possibly damaging	Het
Lrrc8b	C	T	5: 105,481,342	S518L	probably benign	Het
Lyg1	C	T	1: 37,946,953	D176N	probably damaging	Het
Mctp1	A	G	13: 76,688,559	N82D	probably damaging	Het
Muc6	T	C	7: 141,640,423		probably benign	Het
Nynrin	T	C	14: 55,870,631	L1065P	probably damaging	Het
Olfr1474	T	C	19: 13,471,896	S309P	probably benign	Het
Pcdh7	T	A	5: 57,722,225	S1041T	probably damaging	Het
Pkd1l1	T	A	11: 8,861,302	M1518L	probably benign	Het
Prl8a6	G	T	13: 27,435,470	Q90K	probably benign	Het
Ptcd1	T	A	5: 145,159,665	D206V	probably damaging	Het
Rap1gap	C	A	4: 137,720,377	D478E	probably benign	Het
Scn5a	A	G	9: 119,501,666	Y1269H	probably damaging	Het
Sdc2	A	T	15: 33,028,144	H136L	probably benign	Het
Senp6	A	T	9: 80,126,433	I120F	probably damaging	Het
Shisa5	G	A	9: 109,056,094		probably null	Het
Slc19a1	A	G	10: 77,042,269	S213G	probably null	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Tbc1d20	T	A	2: 152,308,325		probably null	Het
Tll2	T	C	19: 41,104,934	H481R	probably benign	Het
Tmem234	T	C	4: 129,607,131		probably null	Het
Vmn1r237	C	G	17: 21,314,807	T264S	probably benign	Het
Vmn2r98	A	T	17: 19,065,998	T253S	probably benign	Het
Zfyve27	T	C	19: 42,182,663	Y191H	probably damaging	Het

Other mutations in Tmc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Tmc7	APN	7	118552762	missense	probably damaging	1.00
IGL01456:Tmc7	APN	7	118547310	splice site	probably benign
IGL01784:Tmc7	APN	7	118547315	critical splice donor site	probably null
IGL02158:Tmc7	APN	7	118538211	missense	probably damaging	1.00
PIT4403001:Tmc7	UTSW	7	118547400	missense	probably benign	0.04
PIT4403001:Tmc7	UTSW	7	118547401	missense	possibly damaging	0.86
PIT4696001:Tmc7	UTSW	7	118564343	missense	probably benign	0.04
R1164:Tmc7	UTSW	7	118542024	missense	probably benign	0.01
R1169:Tmc7	UTSW	7	118551260	missense	probably benign	0.00
R1170:Tmc7	UTSW	7	118551260	missense	probably benign	0.00
R1420:Tmc7	UTSW	7	118566217	nonsense	probably null
R1885:Tmc7	UTSW	7	118561087	missense	possibly damaging	0.95
R1886:Tmc7	UTSW	7	118561087	missense	possibly damaging	0.95
R1887:Tmc7	UTSW	7	118561087	missense	possibly damaging	0.95
R1923:Tmc7	UTSW	7	118545627	missense	probably benign	0.08
R2220:Tmc7	UTSW	7	118552816	missense	possibly damaging	0.87
R4858:Tmc7	UTSW	7	118543342	missense	probably damaging	1.00
R5000:Tmc7	UTSW	7	118558854	critical splice donor site	probably null
R5038:Tmc7	UTSW	7	118543365	missense	probably damaging	1.00
R5075:Tmc7	UTSW	7	118552696	critical splice donor site	probably null
R5272:Tmc7	UTSW	7	118561053	missense	probably benign
R5691:Tmc7	UTSW	7	118541893	missense	probably benign
R5889:Tmc7	UTSW	7	118566326	missense	probably benign	0.00
R5939:Tmc7	UTSW	7	118545727	missense	probably benign	0.33
R6251:Tmc7	UTSW	7	118561038	missense	possibly damaging	0.83
R6642:Tmc7	UTSW	7	118545611	nonsense	probably null
R6644:Tmc7	UTSW	7	118538162	missense	probably benign
R6814:Tmc7	UTSW	7	118547623	missense	probably benign	0.07
R6872:Tmc7	UTSW	7	118547623	missense	probably benign	0.07
R6967:Tmc7	UTSW	7	118547678	missense	probably benign	0.00
R7165:Tmc7	UTSW	7	118555934	missense	probably benign	0.00
R7492:Tmc7	UTSW	7	118541966	missense	probably benign	0.00
R7543:Tmc7	UTSW	7	118545756	missense	probably benign	0.01
R8048:Tmc7	UTSW	7	118566245	missense	probably benign
R8962:Tmc7	UTSW	7	118561005	missense	probably benign	0.00
R8964:Tmc7	UTSW	7	118561005	missense	probably benign	0.00
R8966:Tmc7	UTSW	7	118561005	missense	probably benign	0.00
R8967:Tmc7	UTSW	7	118561005	missense	probably benign	0.00
R9480:Tmc7	UTSW	7	118542003	missense	probably benign
R9614:Tmc7	UTSW	7	118541937	missense	probably benign	0.01
R9743:Tmc7	UTSW	7	118551229	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAAGTGAGTGACGGAAACT -3'
(R):5'- TGAGTGAGGCCTTGAGTCAT -3'

Sequencing Primer
(F):5'- CTGGTGTAGAACTCACTACGTGGAC -3'
(R):5'- CCTTGAGTCATTTTGTTGGCC -3'

Posted On

2016-12-15