Mutagenetix > Incidental Mutation

Incidental Mutation 'R4229:Tmc3'

320129

Institutional Source

Beutler Lab

Gene Symbol

Tmc3

Ensembl Gene

ENSMUSG00000038540

Gene Name

transmembrane channel-like gene family 3

Synonyms

MMRRC Submission

041048-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83234135-83274822 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 83246610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540

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

SMART Domains

Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171397

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Aadac	A	G	3: 59,939,234 (GRCm39)	K3E	possibly damaging	Het
Cdc14a	A	G	3: 116,087,413 (GRCm39)	S533P	probably damaging	Het
Dsc3	G	A	18: 20,098,878 (GRCm39)	T767I	probably damaging	Het
Dse	A	T	10: 34,038,740 (GRCm39)	M221K	probably damaging	Het
Etfb	C	A	7: 43,105,984 (GRCm39)	R174S	probably damaging	Het
Gm10735	T	C	13: 113,177,743 (GRCm39)		probably benign	Het
Gm27013	A	T	6: 130,654,308 (GRCm39)	S385T	possibly damaging	Het
Gsap	A	G	5: 21,451,975 (GRCm39)	D339G	probably benign	Het
H2-T24	G	A	17: 36,325,721 (GRCm39)	A290V	probably benign	Het
Ifi44l	A	T	3: 151,468,514 (GRCm39)	C5*	probably null	Het
Lipk	A	G	19: 33,997,687 (GRCm39)	Y56C	probably damaging	Het
Mrpl21	A	G	19: 3,336,901 (GRCm39)	I91V	probably damaging	Het
Nin	T	C	12: 70,097,984 (GRCm39)	E492G	probably damaging	Het
Nxpe4	A	G	9: 48,304,122 (GRCm39)	R70G	possibly damaging	Het
Or1e1	A	T	11: 73,245,058 (GRCm39)	T160S	probably damaging	Het
Or4k36	A	G	2: 111,146,681 (GRCm39)	I286V	probably damaging	Het
Or4p18	T	A	2: 88,233,227 (GRCm39)	Q17L	possibly damaging	Het
Or52e18	A	T	7: 104,609,801 (GRCm39)	I46N	probably benign	Het
Plaur	T	C	7: 24,166,208 (GRCm39)	V93A	probably damaging	Het
Ptprv	C	A	1: 135,053,945 (GRCm39)		noncoding transcript	Het
Rabep1	A	G	11: 70,799,260 (GRCm39)	T295A	probably benign	Het
Sec24b	G	T	3: 129,834,368 (GRCm39)	Q141K	probably benign	Het
Set	A	G	2: 29,959,531 (GRCm39)	Y139C	probably damaging	Het
Sspo	T	C	6: 48,467,868 (GRCm39)	S4272P	probably benign	Het
Tmem229a	T	A	6: 24,954,831 (GRCm39)	I308F	probably damaging	Het
Vmn1r223	A	T	13: 23,433,585 (GRCm39)	M60L	probably benign	Het
Zfp148	A	G	16: 33,255,133 (GRCm39)	E41G	probably benign	Het
Zfp677	T	C	17: 21,618,544 (GRCm39)	S534P	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
IGL02344:Tmc3	APN	7	83,258,302 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTCAAATGGGTACAGCACTGGG -3'
(R):5'- AGGTTATAGCACCTGCCTCTC -3'

Sequencing Primer
(F):5'- TACAGCACTGGGAAGGTTGTC -3'
(R):5'- AGGCTTTGAACCTCCCACC -3'

Posted On

2015-06-12