Mutagenetix > Incidental Mutation

Incidental Mutation 'R5882:Tmc5'

490500

Institutional Source

Beutler Lab

Gene Symbol

Tmc5

Ensembl Gene

ENSMUSG00000030650

Gene Name

transmembrane channel-like gene family 5

Synonyms

4932443L08Rik

MMRRC Submission

043236-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R5882 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

118196520-118274308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118254142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 660 (N660S)

Ref Sequence

ENSEMBL: ENSMUSP00000114137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057320] [ENSMUST00000098088] [ENSMUST00000121715] [ENSMUST00000121744]

AlphaFold

Q32NZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057320
AA Change: N450S

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049784
Gene: ENSMUSG00000030650
AA Change: N450S

Domain	Start	End	E-Value	Type
transmembrane domain	203	225	N/A	INTRINSIC
transmembrane domain	238	260	N/A	INTRINSIC
transmembrane domain	275	297	N/A	INTRINSIC
transmembrane domain	371	393	N/A	INTRINSIC
transmembrane domain	408	430	N/A	INTRINSIC
transmembrane domain	451	473	N/A	INTRINSIC
Pfam:TMC	476	581	8.1e-44	PFAM
transmembrane domain	586	608	N/A	INTRINSIC
transmembrane domain	652	674	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098088
AA Change: N660S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095694
Gene: ENSMUSG00000030650
AA Change: N660S

Domain	Start	End	E-Value	Type
internal_repeat_1	7	105	2.08e-10	PROSPERO
internal_repeat_2	10	108	2.75e-10	PROSPERO
internal_repeat_2	127	234	2.75e-10	PROSPERO
internal_repeat_1	152	266	2.08e-10	PROSPERO
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	581	603	N/A	INTRINSIC
transmembrane domain	618	640	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
Pfam:TMC	686	791	1.2e-42	PFAM
transmembrane domain	796	818	N/A	INTRINSIC
transmembrane domain	862	884	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121715
AA Change: N660S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112434
Gene: ENSMUSG00000030650
AA Change: N660S

Domain	Start	End	E-Value	Type
internal_repeat_1	7	105	2.08e-10	PROSPERO
internal_repeat_2	10	108	2.75e-10	PROSPERO
internal_repeat_2	127	234	2.75e-10	PROSPERO
internal_repeat_1	152	266	2.08e-10	PROSPERO
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	581	603	N/A	INTRINSIC
transmembrane domain	618	640	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
Pfam:TMC	686	791	1.1e-43	PFAM
transmembrane domain	796	818	N/A	INTRINSIC
transmembrane domain	862	884	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121744
AA Change: N660S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114137
Gene: ENSMUSG00000030650
AA Change: N660S

Domain	Start	End	E-Value	Type
internal_repeat_1	7	105	2.08e-10	PROSPERO
internal_repeat_2	10	108	2.75e-10	PROSPERO
internal_repeat_2	127	234	2.75e-10	PROSPERO
internal_repeat_1	152	266	2.08e-10	PROSPERO
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	581	603	N/A	INTRINSIC
transmembrane domain	618	640	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
Pfam:TMC	686	791	1.1e-43	PFAM
transmembrane domain	796	818	N/A	INTRINSIC
transmembrane domain	862	884	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.5%
20x: 86.5%

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7e	T	A	15: 77,602,447 (GRCm39)	H348Q	probably benign	Het
Cacna1g	T	A	11: 94,350,645 (GRCm39)	E400V	probably damaging	Het
Cyp2j6	T	A	4: 96,423,839 (GRCm39)	K176N	probably benign	Het
Dcaf4	T	C	12: 83,586,203 (GRCm39)	V377A	probably damaging	Het
Dennd1a	A	G	2: 37,851,675 (GRCm39)	L71P	probably damaging	Het
Dmbx1	G	T	4: 115,777,498 (GRCm39)	R117S	probably damaging	Het
Ep400	A	G	5: 110,903,453 (GRCm39)	V382A	probably benign	Het
Kars1	G	A	8: 112,730,057 (GRCm39)	R107*	probably null	Het
Kif16b	C	T	2: 142,549,178 (GRCm39)		probably null	Het
Lrrc69	A	G	4: 14,708,690 (GRCm39)	F218S	probably damaging	Het
Myo15b	A	G	11: 115,760,422 (GRCm39)	Y1158C	probably damaging	Het
Myom1	G	C	17: 71,417,717 (GRCm39)	A1307P	probably damaging	Het
Nacad	C	T	11: 6,548,568 (GRCm39)	V1389I	possibly damaging	Het
Nit2	T	C	16: 56,979,829 (GRCm39)	D132G	probably benign	Het
Nln	G	T	13: 104,196,006 (GRCm39)	D60E	probably benign	Het
Oas1f	G	A	5: 120,986,316 (GRCm39)	E90K	probably damaging	Het
Obox3	A	G	7: 15,360,893 (GRCm39)	V82A	probably benign	Het
Or4k35	A	T	2: 111,100,484 (GRCm39)	V76E	probably damaging	Het
Or8b12	C	T	9: 37,657,928 (GRCm39)	T166I	probably benign	Het
Pcdhb1	A	T	18: 37,400,230 (GRCm39)	Q727L	probably benign	Het
Phactr1	G	T	13: 42,863,327 (GRCm39)		probably null	Het
Prkg1	A	T	19: 31,563,097 (GRCm39)	N116K	probably damaging	Het
Scnn1g	A	T	7: 121,366,581 (GRCm39)	S593C	possibly damaging	Het
Serpina6	T	C	12: 103,620,494 (GRCm39)	N85S	probably benign	Het
Spock3	A	G	8: 63,596,965 (GRCm39)	T93A	probably benign	Het
St7	T	C	6: 17,846,248 (GRCm39)	L121P	probably damaging	Het
Stoml2	G	C	4: 43,031,003 (GRCm39)	R57G	probably damaging	Het
Tdrd1	C	T	19: 56,837,371 (GRCm39)	R532C	probably damaging	Het
Tmem38a	A	G	8: 73,339,731 (GRCm39)	H233R	probably damaging	Het
Trp53bp2	T	C	1: 182,269,777 (GRCm39)	V304A	possibly damaging	Het
Ush1g	C	A	11: 115,209,368 (GRCm39)	M275I	probably damaging	Het
Zfp882	A	T	8: 72,667,303 (GRCm39)		probably null	Het
Zim1	A	T	7: 6,685,737 (GRCm39)		probably null	Het

Other mutations in Tmc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Tmc5	APN	7	118,256,010 (GRCm39)	missense	probably damaging	1.00
IGL01601:Tmc5	APN	7	118,223,047 (GRCm39)	unclassified	probably benign
IGL01633:Tmc5	APN	7	118,222,809 (GRCm39)	missense	probably damaging	0.97
IGL01845:Tmc5	APN	7	118,251,733 (GRCm39)	missense	possibly damaging	0.93
IGL02148:Tmc5	APN	7	118,244,547 (GRCm39)	missense	probably damaging	0.97
IGL02638:Tmc5	APN	7	118,226,456 (GRCm39)	missense	probably benign	0.36
IGL02890:Tmc5	APN	7	118,244,653 (GRCm39)	splice site	probably benign
hipster	UTSW	7	118,265,834 (GRCm39)	critical splice donor site	probably null
F5426:Tmc5	UTSW	7	118,222,546 (GRCm39)	missense	probably benign
PIT4802001:Tmc5	UTSW	7	118,271,449 (GRCm39)	missense	probably benign
R0068:Tmc5	UTSW	7	118,233,460 (GRCm39)	missense	probably benign	0.44
R0470:Tmc5	UTSW	7	118,239,154 (GRCm39)	missense	possibly damaging	0.68
R0520:Tmc5	UTSW	7	118,265,799 (GRCm39)	missense	probably damaging	1.00
R0786:Tmc5	UTSW	7	118,226,433 (GRCm39)	missense	possibly damaging	0.94
R1263:Tmc5	UTSW	7	118,266,093 (GRCm39)	missense	probably damaging	1.00
R1269:Tmc5	UTSW	7	118,265,816 (GRCm39)	missense	probably benign	0.30
R1486:Tmc5	UTSW	7	118,272,655 (GRCm39)	missense	probably benign	0.02
R1702:Tmc5	UTSW	7	118,271,462 (GRCm39)	missense	probably benign	0.00
R2188:Tmc5	UTSW	7	118,254,178 (GRCm39)	missense	probably damaging	1.00
R3508:Tmc5	UTSW	7	118,244,618 (GRCm39)	missense	probably benign	0.01
R3893:Tmc5	UTSW	7	118,244,592 (GRCm39)	missense	probably damaging	1.00
R3927:Tmc5	UTSW	7	118,251,878 (GRCm39)	nonsense	probably null
R4171:Tmc5	UTSW	7	118,248,810 (GRCm39)	missense	probably damaging	0.99
R4279:Tmc5	UTSW	7	118,273,886 (GRCm39)	makesense	probably null
R4554:Tmc5	UTSW	7	118,269,956 (GRCm39)	missense	probably benign	0.16
R4555:Tmc5	UTSW	7	118,269,956 (GRCm39)	missense	probably benign	0.16
R4557:Tmc5	UTSW	7	118,269,956 (GRCm39)	missense	probably benign	0.16
R4833:Tmc5	UTSW	7	118,228,052 (GRCm39)	missense	probably benign	0.11
R4845:Tmc5	UTSW	7	118,241,604 (GRCm39)	missense	probably damaging	1.00
R4852:Tmc5	UTSW	7	118,244,562 (GRCm39)	missense	probably benign	0.32
R5087:Tmc5	UTSW	7	118,244,609 (GRCm39)	missense	possibly damaging	0.68
R5214:Tmc5	UTSW	7	118,247,155 (GRCm39)	missense	probably damaging	1.00
R5723:Tmc5	UTSW	7	118,271,416 (GRCm39)	missense	probably damaging	1.00
R5739:Tmc5	UTSW	7	118,265,834 (GRCm39)	critical splice donor site	probably null
R5946:Tmc5	UTSW	7	118,269,948 (GRCm39)	missense	probably damaging	1.00
R6244:Tmc5	UTSW	7	118,233,437 (GRCm39)	missense	possibly damaging	0.93
R6360:Tmc5	UTSW	7	118,233,189 (GRCm39)	start codon destroyed	probably null	1.00
R6375:Tmc5	UTSW	7	118,256,037 (GRCm39)	missense	probably damaging	1.00
R6458:Tmc5	UTSW	7	118,244,539 (GRCm39)	missense	probably damaging	1.00
R6566:Tmc5	UTSW	7	118,247,067 (GRCm39)	missense	probably damaging	1.00
R6681:Tmc5	UTSW	7	118,268,527 (GRCm39)	missense	probably damaging	1.00
R7202:Tmc5	UTSW	7	118,239,179 (GRCm39)	missense	possibly damaging	0.49
R7227:Tmc5	UTSW	7	118,269,889 (GRCm39)	missense	possibly damaging	0.81
R7410:Tmc5	UTSW	7	118,222,820 (GRCm39)	nonsense	probably null
R7562:Tmc5	UTSW	7	118,222,549 (GRCm39)	missense	probably benign	0.10
R7808:Tmc5	UTSW	7	118,268,440 (GRCm39)	missense	probably damaging	1.00
R8560:Tmc5	UTSW	7	118,268,514 (GRCm39)	missense	probably damaging	1.00
R8682:Tmc5	UTSW	7	118,269,925 (GRCm39)	missense	possibly damaging	0.77
R8778:Tmc5	UTSW	7	118,222,816 (GRCm39)	missense	unknown
R8832:Tmc5	UTSW	7	118,222,332 (GRCm39)	missense	probably benign	0.06
R9026:Tmc5	UTSW	7	118,241,594 (GRCm39)	missense	possibly damaging	0.92
R9064:Tmc5	UTSW	7	118,233,270 (GRCm39)	missense	probably benign	0.01
R9159:Tmc5	UTSW	7	118,233,264 (GRCm39)	missense	probably benign
R9258:Tmc5	UTSW	7	118,222,501 (GRCm39)	missense	probably benign	0.00
Z1177:Tmc5	UTSW	7	118,222,979 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAATTGCAGGGTCAACAGAAG -3'
(R):5'- TGATGGCTGTCAGGAAACTC -3'

Sequencing Primer
(F):5'- TGCACATCTAAGGTAGTGCC -3'
(R):5'- CAAAATCTCTGTGGTGATTGAAGGCC -3'

Posted On

2017-10-20