Mutagenetix > Incidental Mutation

Incidental Mutation 'R1775:Tmc3'

204327

Institutional Source

Beutler Lab

Gene Symbol

Tmc3

Ensembl Gene

ENSMUSG00000038540

Gene Name

transmembrane channel-like gene family 3

Synonyms

MMRRC Submission

039806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83234135-83274822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83261740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 606 (V606A)

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: V606A

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: V606A

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: V606A

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: V606A

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

Meta Mutation Damage Score

0.0794

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (95/97)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	A	G	12: 11,272,143 (GRCm39)	S20P	unknown	Het
4921528I07Rik	G	A	9: 114,108,386 (GRCm39)		noncoding transcript	Het
4930562C15Rik	G	A	16: 4,669,422 (GRCm39)		probably null	Het
4933427I04Rik	A	G	4: 123,754,286 (GRCm39)	T67A	possibly damaging	Het
Abcc2	A	T	19: 43,786,858 (GRCm39)	N160Y	possibly damaging	Het
Acaca	A	G	11: 84,191,248 (GRCm39)	D155G	possibly damaging	Het
Afg3l1	G	A	8: 124,219,639 (GRCm39)	R389Q	possibly damaging	Het
Ank2	G	A	3: 126,728,196 (GRCm39)	T799M	probably benign	Het
Anxa2	T	C	9: 69,395,363 (GRCm39)	Y202H	possibly damaging	Het
Arhgef33	A	G	17: 80,681,172 (GRCm39)	T771A	probably benign	Het
Atp12a	T	C	14: 56,610,046 (GRCm39)	V182A	probably benign	Het
Birc6	T	C	17: 74,919,281 (GRCm39)	L210S	probably damaging	Het
Car3	A	G	3: 14,929,492 (GRCm39)	T73A	probably benign	Het
Cd5l	T	C	3: 87,275,966 (GRCm39)	L312P	probably damaging	Het
Celf5	A	G	10: 81,303,138 (GRCm39)		probably benign	Het
Cep290	T	A	10: 100,332,672 (GRCm39)	V257E	probably damaging	Het
Cntrob	T	C	11: 69,211,693 (GRCm39)	D177G	possibly damaging	Het
Copg2	A	T	6: 30,787,271 (GRCm39)	F658I	probably damaging	Het
Csmd3	T	C	15: 47,763,135 (GRCm39)	T1234A	probably damaging	Het
Dhx35	A	G	2: 158,648,357 (GRCm39)	T72A	probably damaging	Het
Dmrtc2	A	T	7: 24,573,792 (GRCm39)	H209L	possibly damaging	Het
Eml5	G	T	12: 98,818,963 (GRCm39)		probably null	Het
Evpl	T	C	11: 116,114,486 (GRCm39)	E1068G	possibly damaging	Het
Ezh2	A	G	6: 47,553,594 (GRCm39)	M41T	probably damaging	Het
Fmo3	A	G	1: 162,796,294 (GRCm39)	S93P	possibly damaging	Het
Gdi2	A	G	13: 3,610,018 (GRCm39)	Y213C	possibly damaging	Het
Gpr15	A	T	16: 58,538,921 (GRCm39)	I56K	probably benign	Het
Gria2	G	T	3: 80,598,645 (GRCm39)	S796R	probably benign	Het
Hectd4	T	A	5: 121,429,254 (GRCm39)		probably benign	Het
Hgfac	T	C	5: 35,200,194 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,247,467 (GRCm39)	R1200W	probably damaging	Het
Ift52	G	A	2: 162,867,275 (GRCm39)	D78N	possibly damaging	Het
Iqca1	C	A	1: 90,009,138 (GRCm39)	W415L	probably damaging	Het
Ism1	A	T	2: 139,587,963 (GRCm39)	K236N	probably damaging	Het
Itgb6	C	T	2: 60,502,988 (GRCm39)	W43*	probably null	Het
Kcnk18	T	A	19: 59,223,773 (GRCm39)	I306N	probably damaging	Het
Kctd8	T	C	5: 69,497,903 (GRCm39)	K248E	probably damaging	Het
Layn	T	A	9: 50,970,833 (GRCm39)	I237F	probably benign	Het
Lce3f	C	T	3: 92,900,248 (GRCm39)	P23L	unknown	Het
Lct	A	G	1: 128,228,038 (GRCm39)	F1152L	probably damaging	Het
Mettl25b	A	G	3: 87,831,124 (GRCm39)	S404P	probably damaging	Het
Mxra8	T	C	4: 155,927,531 (GRCm39)	I413T	probably damaging	Het
Nedd9	A	G	13: 41,471,438 (GRCm39)	V187A	probably benign	Het
Net1	A	G	13: 3,937,642 (GRCm39)	L207P	probably damaging	Het
Neurod1	G	T	2: 79,284,781 (GRCm39)	P201T	probably benign	Het
Nlrp1b	A	G	11: 71,052,647 (GRCm39)	F927S	probably damaging	Het
Ntrk3	T	A	7: 78,005,789 (GRCm39)	H524L	possibly damaging	Het
Nup98	A	C	7: 101,784,144 (GRCm39)	S1063A	probably benign	Het
Or10ak11	T	A	4: 118,687,065 (GRCm39)	M191L	probably benign	Het
Or11h4b	G	T	14: 50,918,623 (GRCm39)	P156Q	possibly damaging	Het
Or56b1	G	A	7: 104,285,366 (GRCm39)	V162I	probably benign	Het
Or5b97	C	A	19: 12,878,599 (GRCm39)	V182F	probably benign	Het
Or5m9b	G	A	2: 85,905,104 (GRCm39)	V7I	possibly damaging	Het
Or6d15	T	C	6: 116,559,925 (GRCm39)		probably benign	Het
Pdzd2	G	A	15: 12,592,546 (GRCm39)	R33W	probably damaging	Het
Phf21a	G	A	2: 92,160,860 (GRCm39)	V243I	probably damaging	Het
Ppp1r12b	A	G	1: 134,821,086 (GRCm39)		probably null	Het
Rexo5	T	C	7: 119,444,634 (GRCm39)	V703A	probably benign	Het
Rgs4	A	G	1: 169,572,847 (GRCm39)	S30P	probably benign	Het
Rxra	C	A	2: 27,646,256 (GRCm39)	D340E	probably damaging	Het
Samhd1	A	G	2: 156,949,467 (GRCm39)	V473A	probably benign	Het
Scn3a	T	A	2: 65,302,686 (GRCm39)	K1253N	probably damaging	Het
Scn7a	T	C	2: 66,511,299 (GRCm39)	N1207S	probably benign	Het
Sec24d	T	A	3: 123,130,166 (GRCm39)	I443N	probably damaging	Het
Sema4g	T	A	19: 44,987,681 (GRCm39)		probably null	Het
Sema5b	A	G	16: 35,480,694 (GRCm39)	K787R	probably benign	Het
Serpinc1	A	G	1: 160,817,217 (GRCm39)	N104D	probably benign	Het
Sfn	T	C	4: 133,328,542 (GRCm39)	H180R	probably damaging	Het
Slc22a6	G	T	19: 8,596,471 (GRCm39)		probably null	Het
Slc9a8	T	C	2: 167,299,278 (GRCm39)	S217P	probably benign	Het
Smc6	A	G	12: 11,359,270 (GRCm39)	N965D	probably benign	Het
Sod2	T	A	17: 13,233,919 (GRCm39)	I177N	probably damaging	Het
Sp4	A	T	12: 118,263,335 (GRCm39)	I237K	probably damaging	Het
Sulf2	T	C	2: 165,921,532 (GRCm39)	K697R	probably benign	Het
Svs4	A	T	2: 164,119,005 (GRCm39)	D110E	unknown	Het
Tas1r1	T	A	4: 152,122,675 (GRCm39)	R57*	probably null	Het
Tlr5	T	C	1: 182,801,287 (GRCm39)	I197T	probably damaging	Het
Tmem241	T	A	18: 12,251,469 (GRCm39)	L37F	probably damaging	Het
Tmem59l	A	T	8: 70,938,903 (GRCm39)	N90K	probably damaging	Het
Tram1	A	C	1: 13,646,680 (GRCm39)		probably benign	Het
Trim15	T	A	17: 37,176,061 (GRCm39)	H162L	probably benign	Het
Ttc28	T	A	5: 111,424,677 (GRCm39)	Y1501N	probably benign	Het
Ttc34	T	C	4: 154,946,671 (GRCm39)	V857A	probably benign	Het
Tulp4	A	G	17: 6,189,321 (GRCm39)	T48A	probably damaging	Het
Usp9y	T	C	Y: 1,368,089 (GRCm39)	E939G	probably damaging	Het
Utp20	A	G	10: 88,606,670 (GRCm39)	I1634T	probably benign	Het
Vmn2r72	T	C	7: 85,387,378 (GRCm39)	M729V	probably benign	Het
Vps13c	C	T	9: 67,788,729 (GRCm39)	T334M	probably damaging	Het
Wnk4	C	G	11: 101,167,166 (GRCm39)		probably benign	Het
Xpo1	A	G	11: 23,221,193 (GRCm39)	N97D	probably benign	Het
Xpo4	A	T	14: 57,841,129 (GRCm39)	F518Y	probably benign	Het
Zfp668	C	T	7: 127,465,778 (GRCm39)	V469I	possibly damaging	Het
Zfp85	C	A	13: 67,897,823 (GRCm39)	C83F	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
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

Predicted Primers

PCR Primer
(F):5'- GTACACGGAATGTCTCACACC -3'
(R):5'- ACTCCAAAGGGGTGACAATTG -3'

Sequencing Primer
(F):5'- GGAATGTCTCACACCCTTGC -3'
(R):5'- CTCCAAAGGGGTGACAATTGATTTC -3'

Posted On

2014-06-23