Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02344:Tmc3'

289224

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmc3

Ensembl Gene

ENSMUSG00000038540

Gene Name

transmembrane channel-like gene family 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02344

Quality Score

Status

Chromosome

Chromosomal Location

83234135-83274822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83258302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 431 (I431L)

Ref Sequence

ENSEMBL: ENSMUSP00000130348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039317] [ENSMUST00000164944]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039317
AA Change: I431L

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

SMART Domains

Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: I431L

Domain	Start	End	E-Value	Type
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	195	214	N/A	INTRINSIC
transmembrane domain	227	246	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
transmembrane domain	362	381	N/A	INTRINSIC
transmembrane domain	396	415	N/A	INTRINSIC
Pfam:TMC	500	615	5e-42	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	679	701	N/A	INTRINSIC
low complexity region	1071	1089	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163297

Predicted Effect

probably benign
Transcript: ENSMUST00000164944
AA Change: I431L

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

SMART Domains

Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: I431L

Domain	Start	End	E-Value	Type
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	195	214	N/A	INTRINSIC
transmembrane domain	227	246	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
transmembrane domain	362	381	N/A	INTRINSIC
transmembrane domain	396	415	N/A	INTRINSIC
Pfam:TMC	500	615	1.1e-45	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	679	701	N/A	INTRINSIC
low complexity region	1042	1060	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	C	2: 34,979,198 (GRCm39)	N167D	probably benign	Het
AI467606	G	T	7: 126,691,691 (GRCm39)	A89S	probably damaging	Het
Atrip	T	A	9: 108,901,692 (GRCm39)	K122*	probably null	Het
B3glct	C	T	5: 149,650,313 (GRCm39)	R139*	probably null	Het
Cep135	A	G	5: 76,764,668 (GRCm39)	T549A	probably benign	Het
Chd8	T	C	14: 52,439,107 (GRCm39)	N64S	probably damaging	Het
Dock2	T	C	11: 34,622,337 (GRCm39)	I101V	probably damaging	Het
Ipo5	T	C	14: 121,180,191 (GRCm39)		probably benign	Het
Ly6g5c	A	G	17: 35,329,723 (GRCm39)	T68A	possibly damaging	Het
Mthfd1l	A	G	10: 3,998,272 (GRCm39)		probably null	Het
Nme8	T	A	13: 19,858,574 (GRCm39)	E88V	possibly damaging	Het
Ptpn4	A	T	1: 119,700,990 (GRCm39)	D86E	probably damaging	Het
Rnf169	A	G	7: 99,575,642 (GRCm39)	S318P	probably damaging	Het
Sidt2	T	C	9: 45,856,590 (GRCm39)	Y493C	probably null	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tet3	A	G	6: 83,380,815 (GRCm39)	V451A	probably benign	Het
Trp73	C	T	4: 154,146,500 (GRCm39)	G420S	possibly damaging	Het
Vmn2r108	T	C	17: 20,689,405 (GRCm39)	S517G	probably damaging	Het

Other mutations in Tmc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Tmc3	APN	7	83,252,682 (GRCm39)	missense	probably null	1.00
IGL01372:Tmc3	APN	7	83,261,746 (GRCm39)	missense	probably damaging	1.00
IGL02072:Tmc3	APN	7	83,265,148 (GRCm39)	missense	probably benign	0.00
IGL02168:Tmc3	APN	7	83,269,203 (GRCm39)	missense	possibly damaging	0.87
IGL02421:Tmc3	APN	7	83,271,952 (GRCm39)	missense	probably benign
IGL02604:Tmc3	APN	7	83,271,827 (GRCm39)	missense	possibly damaging	0.85
IGL02863:Tmc3	APN	7	83,271,493 (GRCm39)	missense	possibly damaging	0.61
IGL02863:Tmc3	APN	7	83,271,494 (GRCm39)	missense	probably benign	0.04
IGL03058:Tmc3	APN	7	83,265,094 (GRCm39)	missense	possibly damaging	0.91
IGL03303:Tmc3	APN	7	83,239,933 (GRCm39)	splice site	probably benign
F5770:Tmc3	UTSW	7	83,271,713 (GRCm39)	missense	probably benign	0.01
R0133:Tmc3	UTSW	7	83,261,681 (GRCm39)	missense	probably damaging	1.00
R0147:Tmc3	UTSW	7	83,256,950 (GRCm39)	missense	probably damaging	1.00
R0304:Tmc3	UTSW	7	83,245,347 (GRCm39)	missense	probably damaging	1.00
R0320:Tmc3	UTSW	7	83,257,027 (GRCm39)	splice site	probably benign
R0478:Tmc3	UTSW	7	83,271,360 (GRCm39)	missense	possibly damaging	0.66
R0714:Tmc3	UTSW	7	83,265,969 (GRCm39)	missense	possibly damaging	0.94
R1471:Tmc3	UTSW	7	83,247,498 (GRCm39)	missense	probably damaging	1.00
R1725:Tmc3	UTSW	7	83,253,940 (GRCm39)	missense	probably damaging	1.00
R1775:Tmc3	UTSW	7	83,261,740 (GRCm39)	missense	probably benign	0.39
R2176:Tmc3	UTSW	7	83,258,516 (GRCm39)	missense	probably damaging	1.00
R4001:Tmc3	UTSW	7	83,269,271 (GRCm39)	missense	probably benign	0.01
R4229:Tmc3	UTSW	7	83,246,610 (GRCm39)	intron	probably benign
R4635:Tmc3	UTSW	7	83,234,290 (GRCm39)	unclassified	probably benign
R4715:Tmc3	UTSW	7	83,271,604 (GRCm39)	missense	probably benign	0.05
R4789:Tmc3	UTSW	7	83,271,746 (GRCm39)	missense	probably damaging	0.99
R4998:Tmc3	UTSW	7	83,271,529 (GRCm39)	missense	probably benign	0.16
R5044:Tmc3	UTSW	7	83,258,326 (GRCm39)	missense	probably benign	0.00
R5108:Tmc3	UTSW	7	83,269,156 (GRCm39)	missense	probably damaging	0.97
R5119:Tmc3	UTSW	7	83,264,218 (GRCm39)	missense	probably damaging	1.00
R5428:Tmc3	UTSW	7	83,261,755 (GRCm39)	missense	probably damaging	1.00
R5447:Tmc3	UTSW	7	83,271,569 (GRCm39)	missense	possibly damaging	0.63
R5767:Tmc3	UTSW	7	83,249,190 (GRCm39)	missense	probably benign	0.43
R5801:Tmc3	UTSW	7	83,271,686 (GRCm39)	missense	possibly damaging	0.94
R6115:Tmc3	UTSW	7	83,264,170 (GRCm39)	missense	possibly damaging	0.47
R6193:Tmc3	UTSW	7	83,252,543 (GRCm39)	missense	probably benign	0.26
R6436:Tmc3	UTSW	7	83,247,695 (GRCm39)	missense	probably damaging	1.00
R6478:Tmc3	UTSW	7	83,271,524 (GRCm39)	missense	probably benign	0.31
R6648:Tmc3	UTSW	7	83,246,751 (GRCm39)	missense	probably damaging	1.00
R6849:Tmc3	UTSW	7	83,235,565 (GRCm39)	missense	probably damaging	1.00
R7030:Tmc3	UTSW	7	83,266,025 (GRCm39)	splice site	probably null
R7085:Tmc3	UTSW	7	83,271,353 (GRCm39)	missense	possibly damaging	0.88
R7574:Tmc3	UTSW	7	83,247,481 (GRCm39)	missense	probably damaging	0.99
R7685:Tmc3	UTSW	7	83,246,666 (GRCm39)	missense	probably damaging	1.00
R7888:Tmc3	UTSW	7	83,249,217 (GRCm39)	missense	probably damaging	1.00
R8474:Tmc3	UTSW	7	83,259,122 (GRCm39)	missense	probably damaging	1.00
R8961:Tmc3	UTSW	7	83,256,970 (GRCm39)	missense	probably damaging	1.00
R9286:Tmc3	UTSW	7	83,252,643 (GRCm39)	missense	probably damaging	0.96
V7581:Tmc3	UTSW	7	83,271,713 (GRCm39)	missense	probably benign	0.01
Z1088:Tmc3	UTSW	7	83,252,676 (GRCm39)	missense	probably damaging	1.00
Z1188:Tmc3	UTSW	7	83,261,686 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16