Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03149:Tmc4'

411020

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmc4

Ensembl Gene

ENSMUSG00000019734

Gene Name

transmembrane channel-like gene family 4

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL03149

Quality Score

Status

Chromosome

Chromosomal Location

3668790-3680522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3670177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 484 (I484L)

Ref Sequence

ENSEMBL: ENSMUSP00000112541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019878] [ENSMUST00000038743] [ENSMUST00000121743] [ENSMUST00000145034]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019878

SMART Domains

Protein: ENSMUSP00000019878
Gene: ENSMUSG00000078813

Domain	Start	End	E-Value	Type
Cir_N	8	44	2.43e-9	SMART
low complexity region	94	109	N/A	INTRINSIC
low complexity region	171	192	N/A	INTRINSIC
coiled coil region	198	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038743
AA Change: I551L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000043853
Gene: ENSMUSG00000019734
AA Change: I551L

Domain	Start	End	E-Value	Type
transmembrane domain	151	173	N/A	INTRINSIC
low complexity region	177	191	N/A	INTRINSIC
transmembrane domain	232	251	N/A	INTRINSIC
transmembrane domain	332	354	N/A	INTRINSIC
transmembrane domain	374	396	N/A	INTRINSIC
transmembrane domain	409	431	N/A	INTRINSIC
Pfam:TMC	457	567	2.5e-42	PFAM
transmembrane domain	572	594	N/A	INTRINSIC
transmembrane domain	637	659	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121743
AA Change: I484L

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

SMART Domains

Protein: ENSMUSP00000112541
Gene: ENSMUSG00000019734
AA Change: I484L

Domain	Start	End	E-Value	Type
transmembrane domain	84	106	N/A	INTRINSIC
low complexity region	110	124	N/A	INTRINSIC
transmembrane domain	165	184	N/A	INTRINSIC
transmembrane domain	265	287	N/A	INTRINSIC
transmembrane domain	307	329	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
Pfam:TMC	390	500	1.4e-40	PFAM
transmembrane domain	505	527	N/A	INTRINSIC
transmembrane domain	570	592	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144751

Predicted Effect

probably benign
Transcript: ENSMUST00000145034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148313

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	A	G	8: 78,136,167 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,008,085 (GRCm39)	I546T	possibly damaging	Het
Arsj	A	T	3: 126,233,053 (GRCm39)		probably benign	Het
Ash2l	A	G	8: 26,308,650 (GRCm39)	V543A	probably benign	Het
B4galnt3	A	G	6: 120,208,555 (GRCm39)		probably benign	Het
Blvra	T	A	2: 126,924,871 (GRCm39)	V11E	probably damaging	Het
Calcb	T	C	7: 114,319,371 (GRCm39)	L51P	probably damaging	Het
Cd36	T	A	5: 18,025,563 (GRCm39)	K52N	probably benign	Het
Cebpz	T	C	17: 79,229,982 (GRCm39)	N857S	probably benign	Het
Ces1b	A	G	8: 93,791,502 (GRCm39)		probably benign	Het
Clspn	T	C	4: 126,470,295 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,674 (GRCm39)	L283H	probably damaging	Het
Ctc1	T	C	11: 68,921,987 (GRCm39)	V811A	possibly damaging	Het
Ctsk	T	C	3: 95,408,730 (GRCm39)	S65P	possibly damaging	Het
Ddx51	A	G	5: 110,801,600 (GRCm39)	N83D	probably benign	Het
Eci2	T	C	13: 35,172,296 (GRCm39)	T146A	probably benign	Het
Erbin	T	C	13: 103,977,671 (GRCm39)	N629D	possibly damaging	Het
Etfbkmt	A	G	6: 149,045,781 (GRCm39)	E45G	probably damaging	Het
Fat4	A	G	3: 39,045,834 (GRCm39)	N3951S	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Garem1	G	T	18: 21,264,523 (GRCm39)	P534T	probably damaging	Het
Gm8237	A	G	14: 5,864,451 (GRCm38)	I37T	probably benign	Het
Ikzf5	T	C	7: 130,998,494 (GRCm39)	K13E	probably damaging	Het
Kl	T	A	5: 150,906,200 (GRCm39)	C523*	probably null	Het
Klhl7	G	A	5: 24,364,687 (GRCm39)	V574I	probably benign	Het
Lyst	T	C	13: 13,856,029 (GRCm39)	V2450A	probably benign	Het
Map3k6	A	T	4: 132,976,999 (GRCm39)	I819F	probably damaging	Het
Mphosph9	T	C	5: 124,401,074 (GRCm39)	E891G	probably damaging	Het
Myo7b	A	G	18: 32,147,355 (GRCm39)	S63P	probably damaging	Het
Ndufaf7	C	T	17: 79,252,439 (GRCm39)	R283C	possibly damaging	Het
Nepro	G	T	16: 44,547,462 (GRCm39)	A60S	probably damaging	Het
Nop56	T	C	2: 130,119,445 (GRCm39)	S354P	probably damaging	Het
Nwd2	T	A	5: 63,963,338 (GRCm39)	L974H	probably damaging	Het
Or4a80	T	C	2: 89,583,172 (GRCm39)		probably null	Het
Or52ad1	A	T	7: 102,996,056 (GRCm39)	H26Q	probably benign	Het
Pacsin3	T	A	2: 91,091,852 (GRCm39)		probably benign	Het
Parp12	C	T	6: 39,091,165 (GRCm39)	D142N	probably benign	Het
Pcdh15	G	A	10: 74,466,527 (GRCm39)	D1449N	probably damaging	Het
Pcsk7	C	T	9: 45,820,778 (GRCm39)	T70M	probably benign	Het
Pld4	T	C	12: 112,733,263 (GRCm39)	F280L	probably benign	Het
Ppm1k	C	A	6: 57,501,759 (GRCm39)	A135S	probably damaging	Het
Prkcq	A	T	2: 11,237,356 (GRCm39)	Y45F	probably benign	Het
Prom1	T	A	5: 44,187,076 (GRCm39)	I385F	probably damaging	Het
Prss12	A	G	3: 123,299,036 (GRCm39)	N603D	probably benign	Het
Ptbp2	G	T	3: 119,514,074 (GRCm39)	T501K	possibly damaging	Het
Ranbp17	C	A	11: 33,193,183 (GRCm39)	R957L	possibly damaging	Het
Rasl10a	T	C	11: 5,008,429 (GRCm39)	Y42H	possibly damaging	Het
Serpina9	G	A	12: 103,974,869 (GRCm39)	Q95*	probably null	Het
Serpinb1b	C	A	13: 33,269,275 (GRCm39)	Q3K	possibly damaging	Het
Sgo2b	T	A	8: 64,379,617 (GRCm39)	M1072L	probably benign	Het
Slc1a5	T	C	7: 16,523,745 (GRCm39)	V250A	probably damaging	Het
Slc30a6	T	C	17: 74,730,018 (GRCm39)	S303P	probably damaging	Het
Tbc1d2	A	T	4: 46,637,619 (GRCm39)	I209N	probably benign	Het
Ttll5	G	A	12: 85,965,758 (GRCm39)	E36K	probably damaging	Het
Unc93b1	A	G	19: 3,994,041 (GRCm39)	M391V	probably benign	Het
Xpo5	T	A	17: 46,526,740 (GRCm39)		probably null	Het

Other mutations in Tmc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Tmc4	APN	7	3,678,517 (GRCm39)	missense	possibly damaging	0.85
IGL01661:Tmc4	APN	7	3,669,926 (GRCm39)	missense	probably damaging	0.97
IGL02163:Tmc4	APN	7	3,669,824 (GRCm39)	missense	probably damaging	0.98
R0233:Tmc4	UTSW	7	3,669,866 (GRCm39)	missense	probably benign
R0233:Tmc4	UTSW	7	3,669,866 (GRCm39)	missense	probably benign
R0483:Tmc4	UTSW	7	3,670,609 (GRCm39)	missense	probably damaging	0.98
R2406:Tmc4	UTSW	7	3,674,025 (GRCm39)	missense	probably benign	0.00
R3834:Tmc4	UTSW	7	3,675,006 (GRCm39)	missense	probably benign	0.00
R3897:Tmc4	UTSW	7	3,674,087 (GRCm39)	missense	probably benign	0.43
R4434:Tmc4	UTSW	7	3,675,006 (GRCm39)	missense	probably benign	0.00
R4664:Tmc4	UTSW	7	3,674,270 (GRCm39)	splice site	probably null
R4666:Tmc4	UTSW	7	3,674,270 (GRCm39)	splice site	probably null
R5764:Tmc4	UTSW	7	3,675,022 (GRCm39)	missense	probably damaging	0.98
R5914:Tmc4	UTSW	7	3,675,008 (GRCm39)	missense	probably benign	0.03
R6077:Tmc4	UTSW	7	3,670,526 (GRCm39)	missense	probably damaging	1.00
R6090:Tmc4	UTSW	7	3,674,052 (GRCm39)	missense	probably damaging	1.00
R6332:Tmc4	UTSW	7	3,680,421 (GRCm39)	critical splice donor site	probably null
R6362:Tmc4	UTSW	7	3,678,458 (GRCm39)	missense	probably benign	0.00
R6616:Tmc4	UTSW	7	3,674,057 (GRCm39)	missense	possibly damaging	0.87
R7317:Tmc4	UTSW	7	3,672,918 (GRCm39)	missense	probably benign	0.18
R7696:Tmc4	UTSW	7	3,672,574 (GRCm39)	missense	probably damaging	0.98
R8291:Tmc4	UTSW	7	3,674,421 (GRCm39)	missense	probably benign
R8710:Tmc4	UTSW	7	3,678,463 (GRCm39)	missense	probably benign	0.35
R9214:Tmc4	UTSW	7	3,670,497 (GRCm39)	missense	probably damaging	1.00
R9273:Tmc4	UTSW	7	3,670,552 (GRCm39)	missense	probably damaging	0.98
R9314:Tmc4	UTSW	7	3,679,723 (GRCm39)	missense	possibly damaging	0.70
X0022:Tmc4	UTSW	7	3,674,040 (GRCm39)	missense	possibly damaging	0.92
X0028:Tmc4	UTSW	7	3,678,015 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02