Mutagenetix > Incidental Mutation

Incidental Mutation 'R8682:Tmc5'

661811

Institutional Source

Beutler Lab

Gene Symbol

Tmc5

Ensembl Gene

ENSMUSG00000030650

Gene Name

transmembrane channel-like gene family 5

Synonyms

4932443L08Rik

MMRRC Submission

068537-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R8682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118196520-118274308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118269925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 892 (V892F)

Ref Sequence

ENSEMBL: ENSMUSP00000112434 (fasta)

Gene Model

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

AlphaFold

Q32NZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000057320
AA Change: V682F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000049784
Gene: ENSMUSG00000030650
AA Change: V682F

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

possibly damaging
Transcript: ENSMUST00000098088
AA Change: V892F

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095694
Gene: ENSMUSG00000030650
AA Change: V892F

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

possibly damaging
Transcript: ENSMUST00000121715
AA Change: V892F

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112434
Gene: ENSMUSG00000030650
AA Change: V892F

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

possibly damaging
Transcript: ENSMUST00000121744
AA Change: V892F

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114137
Gene: ENSMUSG00000030650
AA Change: V892F

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: 99.8%
10x: 98.9%
20x: 95.7%

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,314,725 (GRCm39)	L141Q	probably null	Het
Abtb2	A	T	2: 103,397,720 (GRCm39)	T217S	probably benign	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Angpt4	A	G	2: 151,769,005 (GRCm39)	M172V	probably benign	Het
Apaf1	A	T	10: 90,831,532 (GRCm39)	V1194D	probably damaging	Het
Arhgap30	T	C	1: 171,234,970 (GRCm39)	S479P	probably benign	Het
Asah2	C	T	19: 32,030,277 (GRCm39)	V132M	probably damaging	Het
Bmp10	A	G	6: 87,410,541 (GRCm39)		probably null	Het
Bsn	T	C	9: 107,983,368 (GRCm39)	Y790C		Het
Cacna2d1	C	A	5: 16,558,837 (GRCm39)	R732S	possibly damaging	Het
Casr	A	T	16: 36,315,784 (GRCm39)	F762Y	possibly damaging	Het
Cbln1	T	C	8: 88,198,735 (GRCm39)	D45G	possibly damaging	Het
Cd177	A	T	7: 24,459,438 (GRCm39)	M61K	possibly damaging	Het
Cdh11	T	C	8: 103,377,348 (GRCm39)	I433V	probably benign	Het
Cdhr5	A	G	7: 140,855,899 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,568,358 (GRCm39)	K1622I	probably benign	Het
Cyp2d9	A	G	15: 82,337,917 (GRCm39)	D103G	probably damaging	Het
Dync2i1	A	T	12: 116,188,610 (GRCm39)	H661Q	probably damaging	Het
Eif4a3l1	A	G	6: 136,306,027 (GRCm39)	T163A	possibly damaging	Het
Fem1b	A	T	9: 62,704,432 (GRCm39)	L276*	probably null	Het
Fggy	T	A	4: 95,700,358 (GRCm39)	V343E	probably damaging	Het
Flt3	A	G	5: 147,320,265 (GRCm39)	V33A	probably benign	Het
Grn	T	C	11: 102,325,646 (GRCm39)	Y288H	probably benign	Het
Grtp1	G	A	8: 13,229,499 (GRCm39)	R272W	probably damaging	Het
H2-Aa	A	G	17: 34,502,734 (GRCm39)	I144T	possibly damaging	Het
Herc1	A	G	9: 66,370,130 (GRCm39)	D469G		Het
Hsf2	G	A	10: 57,381,267 (GRCm39)	E286K	possibly damaging	Het
Hydin	A	G	8: 111,035,798 (GRCm39)	E163G	probably damaging	Het
Il6ra	A	G	3: 89,793,976 (GRCm39)	I224T	possibly damaging	Het
Itih3	T	A	14: 30,642,673 (GRCm39)	I204F	possibly damaging	Het
Kcnj9	A	T	1: 172,153,680 (GRCm39)	M148K	possibly damaging	Het
Lepr	T	G	4: 101,649,269 (GRCm39)	V890G	probably benign	Het
Mslnl	A	G	17: 25,965,962 (GRCm39)	D612G	probably benign	Het
Myl2	T	A	5: 122,244,798 (GRCm39)	V156D	probably damaging	Het
Neb	C	A	2: 52,136,857 (GRCm39)	W3208L	probably damaging	Het
Neto2	T	C	8: 86,367,295 (GRCm39)	Y511C	probably benign	Het
Obi1	G	T	14: 104,717,669 (GRCm39)	R235S	probably damaging	Het
Obox2	C	A	7: 15,130,912 (GRCm39)	T48K	possibly damaging	Het
Or14a259	C	T	7: 86,013,373 (GRCm39)	M57I	probably damaging	Het
Or51f2	T	A	7: 102,526,646 (GRCm39)	F106L	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Osbpl6	C	G	2: 76,407,425 (GRCm39)	H486D	probably benign	Het
Pfkfb3	T	C	2: 11,489,144 (GRCm39)	K264E	probably benign	Het
Phf11	G	A	14: 59,496,033 (GRCm39)	T27I	probably benign	Het
Pla2r1	T	A	2: 60,253,120 (GRCm39)	T1324S	possibly damaging	Het
Plekhg1	A	T	10: 3,897,523 (GRCm39)	Y495F		Het
Ppp2r5d	T	C	17: 46,997,989 (GRCm39)	K225E	probably benign	Het
Ptpn11	T	C	5: 121,306,053 (GRCm39)	D64G	possibly damaging	Het
Ptprs	A	G	17: 56,742,849 (GRCm39)	I431T	probably damaging	Het
Rapgef5	T	C	12: 117,545,432 (GRCm39)	S100P	probably benign	Het
Shh	T	A	5: 28,663,058 (GRCm39)	H370L	probably benign	Het
Siah3	A	T	14: 75,763,043 (GRCm39)	H98L	possibly damaging	Het
Sim2	C	T	16: 93,924,192 (GRCm39)	H446Y	probably benign	Het
Skint4	T	C	4: 111,993,237 (GRCm39)	I320T	possibly damaging	Het
Sorcs1	A	T	19: 50,367,398 (GRCm39)	N221K	probably damaging	Het
Sox6	T	C	7: 115,076,191 (GRCm39)	S816G	probably damaging	Het
Sphkap	T	C	1: 83,256,997 (GRCm39)	T251A	probably benign	Het
Stard9	T	C	2: 120,533,796 (GRCm39)	V3351A	possibly damaging	Het
Tbc1d15	A	G	10: 115,046,195 (GRCm39)	V436A	probably benign	Het
Thsd7b	A	T	1: 129,688,011 (GRCm39)	K641*	probably null	Het
Tpsab1	T	A	17: 25,562,685 (GRCm39)	H238L	probably benign	Het
Trank1	A	G	9: 111,194,412 (GRCm39)	N812S	probably benign	Het
Trio	T	A	15: 27,905,278 (GRCm39)	N163Y	unknown	Het
Ttc39d	A	G	17: 80,524,693 (GRCm39)	T451A	probably benign	Het
Ube3b	T	C	5: 114,550,351 (GRCm39)	L832P	probably damaging	Het
Vmn2r15	C	A	5: 109,441,938 (GRCm39)	C165F	probably damaging	Het
Vmn2r90	T	C	17: 17,932,344 (GRCm39)	F84L	possibly damaging	Het
Wdr95	C	T	5: 149,518,752 (GRCm39)	T531I	possibly damaging	Het
Zcrb1	C	A	15: 93,284,118 (GRCm39)	G191V	probably benign	Het
Zfp111	G	A	7: 23,897,983 (GRCm39)	P544S	probably damaging	Het
Zfyve9	T	C	4: 108,576,539 (GRCm39)	S181G	probably benign	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
R5882:Tmc5	UTSW	7	118,254,142 (GRCm39)	missense	probably damaging	0.99
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
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'- AGAATGGTAAACTGGCCTCC -3'
(R):5'- GGATGATGACTTGGAGATTCATTGTAC -3'

Sequencing Primer
(F):5'- AGCGCTTCTCCTTCACAGG -3'
(R):5'- TATTACAGGACAGGGGACTG -3'

Posted On

2021-03-08