Mutagenetix > Incidental Mutation

Incidental Mutation 'F5426:Tmc5'

583

Institutional Source

Beutler Lab

Gene Symbol

Tmc5

Ensembl Gene

ENSMUSG00000030650

Gene Name

transmembrane channel-like gene family 5

Synonyms

4932443L08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

F5426 (G1) of strain 24G1

Quality Score

Status

Validated

Chromosome

Chromosomal Location

118196520-118274308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118222546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 82 (V82D)

Ref Sequence

ENSEMBL: ENSMUSP00000118541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098088] [ENSMUST00000121715] [ENSMUST00000121744] [ENSMUST00000155572]

AlphaFold

Q32NZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000098088
AA Change: V82D

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

SMART Domains

Protein: ENSMUSP00000095694
Gene: ENSMUSG00000030650
AA Change: V82D

Domain	Start	End	E-Value	Type
internal_repeat_1	7	105	2.08e-10	PROSPERO
internal_repeat_2	10	108	2.75e-10	PROSPERO
internal_repeat_2	127	234	2.75e-10	PROSPERO
internal_repeat_1	152	266	2.08e-10	PROSPERO
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	581	603	N/A	INTRINSIC
transmembrane domain	618	640	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
Pfam:TMC	686	791	1.2e-42	PFAM
transmembrane domain	796	818	N/A	INTRINSIC
transmembrane domain	862	884	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121715
AA Change: V82D

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

SMART Domains

Protein: ENSMUSP00000112434
Gene: ENSMUSG00000030650
AA Change: V82D

Domain	Start	End	E-Value	Type
internal_repeat_1	7	105	2.08e-10	PROSPERO
internal_repeat_2	10	108	2.75e-10	PROSPERO
internal_repeat_2	127	234	2.75e-10	PROSPERO
internal_repeat_1	152	266	2.08e-10	PROSPERO
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	581	603	N/A	INTRINSIC
transmembrane domain	618	640	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
Pfam:TMC	686	791	1.1e-43	PFAM
transmembrane domain	796	818	N/A	INTRINSIC
transmembrane domain	862	884	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121744
AA Change: V82D

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

SMART Domains

Protein: ENSMUSP00000114137
Gene: ENSMUSG00000030650
AA Change: V82D

Domain	Start	End	E-Value	Type
internal_repeat_1	7	105	2.08e-10	PROSPERO
internal_repeat_2	10	108	2.75e-10	PROSPERO
internal_repeat_2	127	234	2.75e-10	PROSPERO
internal_repeat_1	152	266	2.08e-10	PROSPERO
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	581	603	N/A	INTRINSIC
transmembrane domain	618	640	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
Pfam:TMC	686	791	1.1e-43	PFAM
transmembrane domain	796	818	N/A	INTRINSIC
transmembrane domain	862	884	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155572
AA Change: V82D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 78.1%
3x: 56.4%

Het Detection Efficiency

35.2%

Validation Efficiency

91% (29/32)

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdk5rap2	A	T	4: 70,173,040 (GRCm39)	V1344E	probably benign	Het
D16Ertd472e	C	T	16: 78,344,889 (GRCm39)	C73Y	probably damaging	Het
Grk4	G	A	5: 34,902,503 (GRCm39)		probably benign	Het
Odc1	G	A	12: 17,599,424 (GRCm39)		probably null	Het
Or5v1	A	C	17: 37,810,427 (GRCm39)	K295T	probably damaging	Het
Prss12	T	C	3: 123,300,121 (GRCm39)	V744A	probably damaging	Het
Pudp	A	T	18: 50,701,612 (GRCm39)	N40K	probably benign	Het
Rab30	T	C	7: 92,478,876 (GRCm39)	I107T	possibly damaging	Het
Ryr3	T	A	2: 112,596,683 (GRCm39)		probably benign	Het
Sh2d1b1	C	A	1: 170,107,350 (GRCm39)		probably null	Het

Other mutations in Tmc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Tmc5	APN	7	118,256,010 (GRCm39)	missense	probably damaging	1.00
IGL01601:Tmc5	APN	7	118,223,047 (GRCm39)	unclassified	probably benign
IGL01633:Tmc5	APN	7	118,222,809 (GRCm39)	missense	probably damaging	0.97
IGL01845:Tmc5	APN	7	118,251,733 (GRCm39)	missense	possibly damaging	0.93
IGL02148:Tmc5	APN	7	118,244,547 (GRCm39)	missense	probably damaging	0.97
IGL02638:Tmc5	APN	7	118,226,456 (GRCm39)	missense	probably benign	0.36
IGL02890:Tmc5	APN	7	118,244,653 (GRCm39)	splice site	probably benign
hipster	UTSW	7	118,265,834 (GRCm39)	critical splice donor site	probably null
PIT4802001:Tmc5	UTSW	7	118,271,449 (GRCm39)	missense	probably benign
R0068:Tmc5	UTSW	7	118,233,460 (GRCm39)	missense	probably benign	0.44
R0470:Tmc5	UTSW	7	118,239,154 (GRCm39)	missense	possibly damaging	0.68
R0520:Tmc5	UTSW	7	118,265,799 (GRCm39)	missense	probably damaging	1.00
R0786:Tmc5	UTSW	7	118,226,433 (GRCm39)	missense	possibly damaging	0.94
R1263:Tmc5	UTSW	7	118,266,093 (GRCm39)	missense	probably damaging	1.00
R1269:Tmc5	UTSW	7	118,265,816 (GRCm39)	missense	probably benign	0.30
R1486:Tmc5	UTSW	7	118,272,655 (GRCm39)	missense	probably benign	0.02
R1702:Tmc5	UTSW	7	118,271,462 (GRCm39)	missense	probably benign	0.00
R2188:Tmc5	UTSW	7	118,254,178 (GRCm39)	missense	probably damaging	1.00
R3508:Tmc5	UTSW	7	118,244,618 (GRCm39)	missense	probably benign	0.01
R3893:Tmc5	UTSW	7	118,244,592 (GRCm39)	missense	probably damaging	1.00
R3927:Tmc5	UTSW	7	118,251,878 (GRCm39)	nonsense	probably null
R4171:Tmc5	UTSW	7	118,248,810 (GRCm39)	missense	probably damaging	0.99
R4279:Tmc5	UTSW	7	118,273,886 (GRCm39)	makesense	probably null
R4554:Tmc5	UTSW	7	118,269,956 (GRCm39)	missense	probably benign	0.16
R4555:Tmc5	UTSW	7	118,269,956 (GRCm39)	missense	probably benign	0.16
R4557:Tmc5	UTSW	7	118,269,956 (GRCm39)	missense	probably benign	0.16
R4833:Tmc5	UTSW	7	118,228,052 (GRCm39)	missense	probably benign	0.11
R4845:Tmc5	UTSW	7	118,241,604 (GRCm39)	missense	probably damaging	1.00
R4852:Tmc5	UTSW	7	118,244,562 (GRCm39)	missense	probably benign	0.32
R5087:Tmc5	UTSW	7	118,244,609 (GRCm39)	missense	possibly damaging	0.68
R5214:Tmc5	UTSW	7	118,247,155 (GRCm39)	missense	probably damaging	1.00
R5723:Tmc5	UTSW	7	118,271,416 (GRCm39)	missense	probably damaging	1.00
R5739:Tmc5	UTSW	7	118,265,834 (GRCm39)	critical splice donor site	probably null
R5882:Tmc5	UTSW	7	118,254,142 (GRCm39)	missense	probably damaging	0.99
R5946:Tmc5	UTSW	7	118,269,948 (GRCm39)	missense	probably damaging	1.00
R6244:Tmc5	UTSW	7	118,233,437 (GRCm39)	missense	possibly damaging	0.93
R6360:Tmc5	UTSW	7	118,233,189 (GRCm39)	start codon destroyed	probably null	1.00
R6375:Tmc5	UTSW	7	118,256,037 (GRCm39)	missense	probably damaging	1.00
R6458:Tmc5	UTSW	7	118,244,539 (GRCm39)	missense	probably damaging	1.00
R6566:Tmc5	UTSW	7	118,247,067 (GRCm39)	missense	probably damaging	1.00
R6681:Tmc5	UTSW	7	118,268,527 (GRCm39)	missense	probably damaging	1.00
R7202:Tmc5	UTSW	7	118,239,179 (GRCm39)	missense	possibly damaging	0.49
R7227:Tmc5	UTSW	7	118,269,889 (GRCm39)	missense	possibly damaging	0.81
R7410:Tmc5	UTSW	7	118,222,820 (GRCm39)	nonsense	probably null
R7562:Tmc5	UTSW	7	118,222,549 (GRCm39)	missense	probably benign	0.10
R7808:Tmc5	UTSW	7	118,268,440 (GRCm39)	missense	probably damaging	1.00
R8560:Tmc5	UTSW	7	118,268,514 (GRCm39)	missense	probably damaging	1.00
R8682:Tmc5	UTSW	7	118,269,925 (GRCm39)	missense	possibly damaging	0.77
R8778:Tmc5	UTSW	7	118,222,816 (GRCm39)	missense	unknown
R8832:Tmc5	UTSW	7	118,222,332 (GRCm39)	missense	probably benign	0.06
R9026:Tmc5	UTSW	7	118,241,594 (GRCm39)	missense	possibly damaging	0.92
R9064:Tmc5	UTSW	7	118,233,270 (GRCm39)	missense	probably benign	0.01
R9159:Tmc5	UTSW	7	118,233,264 (GRCm39)	missense	probably benign
R9258:Tmc5	UTSW	7	118,222,501 (GRCm39)	missense	probably benign	0.00
Z1177:Tmc5	UTSW	7	118,222,979 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at position 693 of the Tmc5 transcript in exon 3 of 23 exons using Genbank record NM_001105252.1. Multiple transcripts of the Tmc5 gene are displayed on Ensembl and Vega. The mutated nucleotide causes a valine to aspartic acid substitution at amino acid 82 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Tmc5 gene encodes a 967 amino acid multi-pass membrane protein that may function as an ion channel, a transporters, or a modulator of such. The protein contains ten transmembrane domains (Uniprot Q32NZ6).

The V82D alteration occurs in the N-terminal extracellular domain.

Posted On

2011-03-09