Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Tmc3'

37748

Institutional Source

Beutler Lab

Gene Symbol

Tmc3

Ensembl Gene

ENSMUSG00000038540

Gene Name

transmembrane channel-like gene family 3

Synonyms

MMRRC Submission

038515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0304 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

83234135-83274822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83245347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 131 (E131K)

Ref Sequence

ENSEMBL: ENSMUSP00000130348 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039317
AA Change: E131K

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

SMART Domains

Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: E131K

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 damaging
Transcript: ENSMUST00000164944
AA Change: E131K

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

SMART Domains

Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: E131K

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: ENSMUST00000165388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171397

Meta Mutation Damage Score

0.4583

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

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
Aadacl4fm1	C	T	4: 144,246,619 (GRCm39)	T55I	probably benign	Het
Acod1	T	A	14: 103,292,418 (GRCm39)	I314N	probably damaging	Het
Actl11	T	A	9: 107,806,967 (GRCm39)	V430E	probably damaging	Het
Adam19	A	C	11: 46,018,219 (GRCm39)	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,802,606 (GRCm39)		probably benign	Het
Akap7	A	T	10: 25,147,450 (GRCm39)	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,578,981 (GRCm39)	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,612 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,427,644 (GRCm39)	I489F	probably benign	Het
Carmil1	T	C	13: 24,323,324 (GRCm39)	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,367,278 (GRCm39)	V939A	probably damaging	Het
Cel	A	C	2: 28,447,783 (GRCm39)	L377R	probably benign	Het
Clock	A	G	5: 76,374,832 (GRCm39)	V779A	unknown	Het
Cluap1	G	A	16: 3,747,782 (GRCm39)		probably benign	Het
Ctif	A	T	18: 75,654,889 (GRCm39)	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,110,129 (GRCm39)		probably benign	Het
Cytip	T	C	2: 58,038,258 (GRCm39)	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 25,048,798 (GRCm39)	M434T	probably benign	Het
Ddx47	A	G	6: 134,994,183 (GRCm39)	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,136,098 (GRCm39)	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,156,793 (GRCm39)		probably benign	Het
Drc7	A	T	8: 95,785,756 (GRCm39)	D204V	probably damaging	Het
Dsc3	A	G	18: 20,114,298 (GRCm39)	Y319H	probably damaging	Het
Eml6	T	C	11: 29,727,441 (GRCm39)	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,741,202 (GRCm39)	D365E	probably benign	Het
Ercc2	T	C	7: 19,120,633 (GRCm39)	I199T	possibly damaging	Het
Exd2	G	A	12: 80,538,014 (GRCm39)		probably benign	Het
F2	A	T	2: 91,463,578 (GRCm39)	I128N	probably damaging	Het
Fam219b	T	C	9: 57,446,159 (GRCm39)	L123P	probably damaging	Het
Fasn	A	G	11: 120,710,762 (GRCm39)	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,791,559 (GRCm39)	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,023,789 (GRCm39)	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,462,411 (GRCm39)	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241 (GRCm39)	T176A	probably benign	Het
Gm20530	T	G	17: 36,405,118 (GRCm39)		noncoding transcript	Het
Gm4787	A	T	12: 81,425,708 (GRCm39)	I150N	probably damaging	Het
Grip1	G	A	10: 119,911,376 (GRCm39)	S618N	probably benign	Het
Hdac9	T	C	12: 34,424,110 (GRCm39)	K454E	probably damaging	Het
Iars2	T	A	1: 185,019,353 (GRCm39)	I978F	possibly damaging	Het
Icosl	A	G	10: 77,911,156 (GRCm39)	Y299C	probably benign	Het
Idi1	T	C	13: 8,940,393 (GRCm39)	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,290 (GRCm39)	Q531P	probably damaging	Het
Itih4	T	A	14: 30,612,051 (GRCm39)		probably null	Het
Izumo4	A	T	10: 80,538,770 (GRCm39)	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325 (GRCm39)	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,860,724 (GRCm39)		probably null	Het
Kynu	A	T	2: 43,569,893 (GRCm39)	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,569,711 (GRCm39)	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552 (GRCm39)	L273R	probably damaging	Het
Max	A	G	12: 76,985,361 (GRCm39)	L119P	probably benign	Het
Mphosph9	T	C	5: 124,436,892 (GRCm39)	N484S	probably benign	Het
Mrgprg	A	G	7: 143,318,792 (GRCm39)	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,911,354 (GRCm39)	I199F	probably benign	Het
Mtr	C	G	13: 12,237,040 (GRCm39)		probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nkapd1	T	C	9: 50,519,222 (GRCm39)	D130G	probably damaging	Het
Nptx2	A	G	5: 144,490,460 (GRCm39)		probably benign	Het
Nrip1	T	C	16: 76,089,595 (GRCm39)	Q654R	possibly damaging	Het
Ocm	A	G	5: 143,961,352 (GRCm39)	F30L	probably damaging	Het
Oosp1	T	C	19: 11,668,333 (GRCm39)	M17V	probably benign	Het
Or14c45	C	T	7: 86,176,195 (GRCm39)	P77S	probably damaging	Het
Or4c111	G	A	2: 88,843,632 (GRCm39)	R259W	probably damaging	Het
Or4c118	A	C	2: 88,975,108 (GRCm39)	Y86*	probably null	Het
Or52ad1	G	T	7: 102,995,918 (GRCm39)	D72E	probably damaging	Het
Pax1	A	T	2: 147,208,067 (GRCm39)	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pkd1	C	A	17: 24,804,920 (GRCm39)	Q3190K	probably damaging	Het
Pkn1	A	C	8: 84,410,236 (GRCm39)		probably benign	Het
Plin5	T	C	17: 56,422,597 (GRCm39)	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,036,082 (GRCm39)	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 66,123,001 (GRCm39)	D334E	probably benign	Het
Ptov1	A	T	7: 44,512,873 (GRCm39)		probably null	Het
Rab22a	G	A	2: 173,503,252 (GRCm39)	V22M	probably damaging	Het
Rictor	T	A	15: 6,815,852 (GRCm39)		probably null	Het
Sart1	G	T	19: 5,430,559 (GRCm39)		probably benign	Het
Scn11a	G	A	9: 119,648,928 (GRCm39)	A45V	probably benign	Het
Serpina5	A	G	12: 104,069,459 (GRCm39)	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,001,825 (GRCm39)	G212C	probably damaging	Het
Slc38a4	A	T	15: 96,906,335 (GRCm39)	M378K	probably damaging	Het
Spata22	T	A	11: 73,231,275 (GRCm39)	C176*	probably null	Het
Trappc10	A	T	10: 78,046,594 (GRCm39)		probably benign	Het
Uvrag	A	G	7: 98,537,180 (GRCm39)	F672L	probably benign	Het
Vmn1r121	A	G	7: 20,832,332 (GRCm39)	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,413,495 (GRCm39)	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Wdr62	T	C	7: 29,942,299 (GRCm39)	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,314,915 (GRCm39)	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,775,611 (GRCm39)		probably benign	Het
Zfp607a	A	T	7: 27,578,637 (GRCm39)	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,608,470 (GRCm39)	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,993,408 (GRCm39)	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,771,450 (GRCm39)	D1644V	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CCATGAATAGGGCAGACTGTGACC -3'
(R):5'- TGAGTCCCACATAAGCAGAGCCTC -3'

Sequencing Primer
(F):5'- tgggaggtagagacagcag -3'
(R):5'- GAGCCTCTCTAACTGTACAAGTG -3'

Posted On

2013-05-23