Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01484:Tmc5'

88849

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01484

Quality Score

Status

Chromosome

Chromosomal Location

118196520-118274308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118256010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 695 (I695N)

Ref Sequence

ENSEMBL: ENSMUSP00000114137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057320] [ENSMUST00000098088] [ENSMUST00000121715] [ENSMUST00000121744]

AlphaFold

Q32NZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000057320
AA Change: I485N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049784
Gene: ENSMUSG00000030650
AA Change: I485N

Domain	Start	End	E-Value	Type
transmembrane domain	203	225	N/A	INTRINSIC
transmembrane domain	238	260	N/A	INTRINSIC
transmembrane domain	275	297	N/A	INTRINSIC
transmembrane domain	371	393	N/A	INTRINSIC
transmembrane domain	408	430	N/A	INTRINSIC
transmembrane domain	451	473	N/A	INTRINSIC
Pfam:TMC	476	581	8.1e-44	PFAM
transmembrane domain	586	608	N/A	INTRINSIC
transmembrane domain	652	674	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098088
AA Change: I695N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095694
Gene: ENSMUSG00000030650
AA Change: I695N

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 damaging
Transcript: ENSMUST00000121715
AA Change: I695N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112434
Gene: ENSMUSG00000030650
AA Change: I695N

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 damaging
Transcript: ENSMUST00000121744
AA Change: I695N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114137
Gene: ENSMUSG00000030650
AA Change: I695N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	G	11: 5,579,006 (GRCm39)	H90R	possibly damaging	Het
Arsj	A	G	3: 126,158,685 (GRCm39)	D88G	probably damaging	Het
Clca4b	C	T	3: 144,633,996 (GRCm39)	V140I	probably benign	Het
Dagla	A	C	19: 10,225,884 (GRCm39)	L760R	possibly damaging	Het
Dnah1	T	C	14: 31,021,897 (GRCm39)	E1202G	probably damaging	Het
Hdac9	T	C	12: 34,487,164 (GRCm39)	H100R	probably damaging	Het
Hhip	T	C	8: 80,723,412 (GRCm39)	H414R	probably damaging	Het
Hk2	G	A	6: 82,713,711 (GRCm39)	T457M	probably damaging	Het
Iapp	A	G	6: 142,249,165 (GRCm39)	T73A	possibly damaging	Het
Ifit1	A	G	19: 34,626,243 (GRCm39)	N460D	probably damaging	Het
Itpa	T	C	2: 130,514,019 (GRCm39)	F77L	probably benign	Het
Knop1	T	C	7: 118,452,032 (GRCm39)	D229G	probably damaging	Het
Lrrc32	T	C	7: 98,143,442 (GRCm39)	I5T	probably damaging	Het
Myo7a	C	T	7: 97,734,629 (GRCm39)	V622M	probably damaging	Het
N4bp1	T	C	8: 87,571,400 (GRCm39)	E866G	probably damaging	Het
Or2t48	A	T	11: 58,420,222 (GRCm39)	W197R	probably benign	Het
Palmd	G	A	3: 116,746,794 (GRCm39)		probably benign	Het
Pcbp4	A	G	9: 106,337,848 (GRCm39)		probably null	Het
Pigf	T	C	17: 87,316,308 (GRCm39)	I157V	probably benign	Het
Pot1b	G	A	17: 56,002,160 (GRCm39)	T138M	possibly damaging	Het
Prl7a2	T	A	13: 27,843,191 (GRCm39)	D204V	probably damaging	Het
Rfc3	A	T	5: 151,566,401 (GRCm39)	D349E	probably benign	Het
Sarm1	A	T	11: 78,381,839 (GRCm39)	C215S	probably damaging	Het
Serpine1	T	C	5: 137,092,326 (GRCm39)		probably benign	Het
Strip1	A	G	3: 107,520,575 (GRCm39)	V825A	probably damaging	Het
Stx12	A	G	4: 132,611,673 (GRCm39)	S2P	probably damaging	Het
Sycp1	A	C	3: 102,823,183 (GRCm39)	S311R	probably benign	Het
Tfpi	A	T	2: 84,275,169 (GRCm39)	C139*	probably null	Het
Tmem169	T	C	1: 72,340,263 (GRCm39)	V231A	probably damaging	Het
Ttbk2	T	G	2: 120,570,314 (GRCm39)	S1211R	possibly damaging	Het
Ubr3	C	T	2: 69,851,888 (GRCm39)	R1855*	probably null	Het
Urb1	A	T	16: 90,574,448 (GRCm39)	S878T	probably benign	Het
Vmn1r174	T	A	7: 23,453,749 (GRCm39)	Y138*	probably null	Het
Zfp282	A	G	6: 47,867,054 (GRCm39)	N214D	possibly damaging	Het

Other mutations in Tmc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
F5426:Tmc5	UTSW	7	118,222,546 (GRCm39)	missense	probably benign
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

Posted On

2013-11-18