Mutagenetix > Incidental Mutation

Incidental Mutation 'R6648:Tmc3'

524354

Institutional Source

Beutler Lab

Gene Symbol

Tmc3

Ensembl Gene

ENSMUSG00000038540

Gene Name

transmembrane channel-like gene family 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6648 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83584927-83625614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83597543 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 164 (V164D)

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: V164D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: V164D

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: V164D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: V164D

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

0.2005

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	T	A	1: 43,738,691	F87I	probably damaging	Het
Aars2	T	C	17: 45,516,564	Y511H	probably damaging	Het
Arhgef38	A	T	3: 133,132,475	I600N	probably damaging	Het
Cacna1g	A	T	11: 94,432,569	C1270S	probably damaging	Het
Ccar2	T	G	14: 70,139,225	D890A	probably benign	Het
Cep76	A	T	18: 67,619,734	V548D	probably benign	Het
Chat	T	G	14: 32,454,694	Q41P	probably benign	Het
Ddx24	T	A	12: 103,408,375	N850I	probably benign	Het
Dst	A	G	1: 34,262,041	I5879V	possibly damaging	Het
Ece1	A	G	4: 137,921,159	T92A	probably benign	Het
Fpgs	G	T	2: 32,684,787	C439*	probably null	Het
Gm21994	T	C	2: 150,255,177	I111V	probably benign	Het
H2-Q4	A	T	17: 35,383,005	E281V	probably damaging	Het
Hydin	A	G	8: 110,525,667		probably null	Het
Iqgap2	T	C	13: 95,682,211	E679G	probably benign	Het
Kif12	A	T	4: 63,171,317		probably null	Het
Kif21b	T	C	1: 136,152,397	V557A	probably benign	Het
Mki67	C	G	7: 135,697,440	S1955T	probably damaging	Het
Mybpc1	G	A	10: 88,522,999	T1110M	probably damaging	Het
Myh9	T	C	15: 77,766,772	H1625R	probably benign	Het
Nbeal2	G	A	9: 110,637,642	T704M	probably damaging	Het
Olfr1378	G	A	11: 50,969,173	D52N	probably damaging	Het
Olfr1438-ps1	A	T	19: 12,333,766	M30K	probably benign	Het
Osbpl9	C	A	4: 109,091,679	Q91H	possibly damaging	Het
Pcsk5	A	T	19: 17,575,821	L665Q	probably damaging	Het
Pgm5	T	C	19: 24,861,632	D53G	probably benign	Het
Plcd4	A	G	1: 74,552,013	D189G	probably benign	Het
Plxnb1	A	T	9: 109,104,330	Q676L	probably benign	Het
Prss33	A	G	17: 23,834,702	S134P	probably benign	Het
Rln1	G	T	19: 29,332,121	T86K	probably benign	Het
Rnf213	G	A	11: 119,479,920	A4785T	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Sh3tc2	T	C	18: 62,015,040	C1274R	probably benign	Het
Slc35a5	A	T	16: 45,143,917	F318I	probably damaging	Het
Slc41a3	T	C	6: 90,619,508	F20L	probably damaging	Het
Socs4	T	A	14: 47,290,176	N189K	probably benign	Het
Tiam2	A	T	17: 3,506,873	E1196V	probably damaging	Het
Trim46	T	C	3: 89,235,242	E623G	possibly damaging	Het
Ubr4	C	A	4: 139,452,719	C3403*	probably null	Het
Vmn1r194	A	T	13: 22,244,524	T104S	probably benign	Het
Vmn2r112	A	T	17: 22,618,486	I643F	probably damaging	Het
Zmynd11	T	G	13: 9,713,021	S95R	probably benign	Het
Zswim4	C	A	8: 84,230,914	R175L	probably benign	Het

Other mutations in Tmc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Tmc3	APN	7	83603474	missense	probably null	1.00
IGL01372:Tmc3	APN	7	83612538	missense	probably damaging	1.00
IGL02072:Tmc3	APN	7	83615940	missense	probably benign	0.00
IGL02168:Tmc3	APN	7	83619995	missense	possibly damaging	0.87
IGL02344:Tmc3	APN	7	83609094	missense	probably benign	0.00
IGL02421:Tmc3	APN	7	83622744	missense	probably benign
IGL02604:Tmc3	APN	7	83622619	missense	possibly damaging	0.85
IGL02863:Tmc3	APN	7	83622286	missense	probably benign	0.04
IGL02863:Tmc3	APN	7	83622285	missense	possibly damaging	0.61
IGL03058:Tmc3	APN	7	83615886	missense	possibly damaging	0.91
IGL03303:Tmc3	APN	7	83590725	splice site	probably benign
F5770:Tmc3	UTSW	7	83622505	missense	probably benign	0.01
R0133:Tmc3	UTSW	7	83612473	missense	probably damaging	1.00
R0147:Tmc3	UTSW	7	83607742	missense	probably damaging	1.00
R0304:Tmc3	UTSW	7	83596139	missense	probably damaging	1.00
R0320:Tmc3	UTSW	7	83607819	splice site	probably benign
R0478:Tmc3	UTSW	7	83622152	missense	possibly damaging	0.66
R0714:Tmc3	UTSW	7	83616761	missense	possibly damaging	0.94
R1471:Tmc3	UTSW	7	83598290	missense	probably damaging	1.00
R1725:Tmc3	UTSW	7	83604732	missense	probably damaging	1.00
R1775:Tmc3	UTSW	7	83612532	missense	probably benign	0.39
R2176:Tmc3	UTSW	7	83609308	missense	probably damaging	1.00
R4001:Tmc3	UTSW	7	83620063	missense	probably benign	0.01
R4229:Tmc3	UTSW	7	83597402	intron	probably benign
R4635:Tmc3	UTSW	7	83585082	unclassified	probably benign
R4715:Tmc3	UTSW	7	83622396	missense	probably benign	0.05
R4789:Tmc3	UTSW	7	83622538	missense	probably damaging	0.99
R4998:Tmc3	UTSW	7	83622321	missense	probably benign	0.16
R5044:Tmc3	UTSW	7	83609118	missense	probably benign	0.00
R5108:Tmc3	UTSW	7	83619948	missense	probably damaging	0.97
R5119:Tmc3	UTSW	7	83615010	missense	probably damaging	1.00
R5428:Tmc3	UTSW	7	83612547	missense	probably damaging	1.00
R5447:Tmc3	UTSW	7	83622361	missense	possibly damaging	0.63
R5767:Tmc3	UTSW	7	83599982	missense	probably benign	0.43
R5801:Tmc3	UTSW	7	83622478	missense	possibly damaging	0.94
R6115:Tmc3	UTSW	7	83614962	missense	possibly damaging	0.47
R6193:Tmc3	UTSW	7	83603335	missense	probably benign	0.26
R6436:Tmc3	UTSW	7	83598487	missense	probably damaging	1.00
R6478:Tmc3	UTSW	7	83622316	missense	probably benign	0.31
R6849:Tmc3	UTSW	7	83586357	missense	probably damaging	1.00
R7030:Tmc3	UTSW	7	83616817	splice site	probably null
R7085:Tmc3	UTSW	7	83622145	missense	possibly damaging	0.88
R7574:Tmc3	UTSW	7	83598273	missense	probably damaging	0.99
R7685:Tmc3	UTSW	7	83597458	missense	probably damaging	1.00
R7888:Tmc3	UTSW	7	83600009	missense	probably damaging	1.00
R8474:Tmc3	UTSW	7	83609914	missense	probably damaging	1.00
R8961:Tmc3	UTSW	7	83607762	missense	probably damaging	1.00
R9286:Tmc3	UTSW	7	83603435	missense	probably damaging	0.96
V7581:Tmc3	UTSW	7	83622505	missense	probably benign	0.01
Z1088:Tmc3	UTSW	7	83603468	missense	probably damaging	1.00
Z1188:Tmc3	UTSW	7	83612478	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGTATACAGAACCAGGGACC -3'
(R):5'- CACATGGCCACTTTGAGTAGTG -3'

Sequencing Primer
(F):5'- GGCACCATATGACATCACTCTTC -3'
(R):5'- CACTTTGAGTAGTGGTGACTAAGTC -3'

Posted On

2018-06-22