Mutagenetix > Incidental Mutation

Incidental Mutation 'R7202:Tmc5'

560377

Institutional Source

Beutler Lab

Gene Symbol

Tmc5

Ensembl Gene

ENSMUSG00000030650

Gene Name

transmembrane channel-like gene family 5

Synonyms

4932443L08Rik

MMRRC Submission

045280-MU

Accession Numbers

Essential gene?

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

Stock #

R7202 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118196520-118274308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118239179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 357 (H357Q)

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: H147Q

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000049784
Gene: ENSMUSG00000030650
AA Change: H147Q

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: H357Q

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095694
Gene: ENSMUSG00000030650
AA Change: H357Q

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: H357Q

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112434
Gene: ENSMUSG00000030650
AA Change: H357Q

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: H357Q

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114137
Gene: ENSMUSG00000030650
AA Change: H357Q

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,917,236 (GRCm39)	I1467T	probably damaging	Het
Abtb3	A	G	10: 85,223,629 (GRCm39)	E146G	unknown	Het
Adgrf3	T	A	5: 30,409,378 (GRCm39)	K38*	probably null	Het
Ahdc1	T	A	4: 132,789,198 (GRCm39)	C146*	probably null	Het
Ahnak	A	T	19: 8,995,163 (GRCm39)	K5482N	probably damaging	Het
Arhgap23	C	T	11: 97,342,819 (GRCm39)	A367V	possibly damaging	Het
Arvcf	T	C	16: 18,223,948 (GRCm39)	S960P	probably damaging	Het
Asb14	C	A	14: 26,622,394 (GRCm39)	P74Q	probably benign	Het
Atad5	T	C	11: 79,980,601 (GRCm39)	V2A	probably damaging	Het
Baz2a	A	G	10: 127,954,428 (GRCm39)	I691M	possibly damaging	Het
Brca2	A	G	5: 150,455,819 (GRCm39)	T187A	probably benign	Het
Calr4	T	A	4: 109,101,254 (GRCm39)	N152K	possibly damaging	Het
Ccnb2	C	T	9: 70,318,128 (GRCm39)	A215T	probably damaging	Het
Cdh16	C	T	8: 105,340,780 (GRCm39)	D140N	unknown	Het
Ces1g	T	C	8: 94,029,595 (GRCm39)	T546A	probably benign	Het
Cfap74	G	T	4: 155,510,654 (GRCm39)		probably null	Het
Cfap91	T	C	16: 38,155,959 (GRCm39)	Y88C	probably benign	Het
Col5a1	G	T	2: 27,842,390 (GRCm39)	D422Y	unknown	Het
Cyp2c66	A	T	19: 39,130,348 (GRCm39)	Y61F	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah6	A	G	6: 73,158,688 (GRCm39)		probably null	Het
Dop1a	T	G	9: 86,386,220 (GRCm39)		probably null	Het
Fam163a	A	G	1: 155,954,834 (GRCm39)	F106L	probably damaging	Het
Gfy	T	C	7: 44,827,596 (GRCm39)	T167A	probably benign	Het
Gm6525	A	T	3: 84,082,341 (GRCm39)	R87S	probably benign	Het
Gramd1c	C	A	16: 43,879,584 (GRCm39)	A19S	possibly damaging	Het
Herc2	T	C	7: 55,781,034 (GRCm39)	V1233A	probably damaging	Het
Hibch	G	A	1: 52,892,874 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,027 (GRCm39)	S9C	probably benign	Het
Il17ra	A	G	6: 120,452,572 (GRCm39)	I252V	probably benign	Het
Ino80	A	T	2: 119,204,918 (GRCm39)	M1536K	probably benign	Het
Ipo11	A	T	13: 107,012,078 (GRCm39)	L568Q	probably damaging	Het
Kcnu1	T	G	8: 26,409,609 (GRCm39)		probably null	Het
Kdm5b	T	G	1: 134,552,497 (GRCm39)	S1158A	probably benign	Het
Kmt2a	T	C	9: 44,759,012 (GRCm39)	T946A	probably benign	Het
Kmt2e	A	T	5: 23,697,292 (GRCm39)		probably benign	Het
Krba1	G	A	6: 48,389,261 (GRCm39)	V594M	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lig1	C	T	7: 13,025,175 (GRCm39)	P227S	probably benign	Het
Lims2	T	A	18: 32,090,017 (GRCm39)	D255E	probably benign	Het
Marchf3	C	T	18: 56,909,161 (GRCm39)	C208Y	probably benign	Het
Mei1	A	G	15: 81,976,843 (GRCm39)	E142G		Het
Melk	G	T	4: 44,351,106 (GRCm39)	R549L	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myorg	T	C	4: 41,498,268 (GRCm39)	Y454C	probably damaging	Het
Nae1	T	C	8: 105,250,215 (GRCm39)	Y226C	possibly damaging	Het
Nap1l1	T	C	10: 111,326,964 (GRCm39)	F175S	probably damaging	Het
Ndn	T	C	7: 61,998,709 (GRCm39)	L185P	probably damaging	Het
Ndst3	T	A	3: 123,465,388 (GRCm39)	I195F	possibly damaging	Het
Ndufaf1	A	T	2: 119,488,907 (GRCm39)	S206T	probably benign	Het
Nek10	C	A	14: 14,836,171 (GRCm38)	H131N	probably benign	Het
Obsl1	T	A	1: 75,466,360 (GRCm39)	D1456V	possibly damaging	Het
Or10a2	A	G	7: 106,673,448 (GRCm39)	N138D	probably benign	Het
Or10ak7	C	T	4: 118,791,215 (GRCm39)	V277I	probably benign	Het
Or52s6	T	A	7: 103,092,292 (GRCm39)	T13S	probably benign	Het
Otog	C	T	7: 45,937,474 (GRCm39)	L1728F	probably damaging	Het
Pcx	A	T	19: 4,652,361 (GRCm39)	M150L	possibly damaging	Het
Pole	A	G	5: 110,444,973 (GRCm39)	D443G	possibly damaging	Het
Prr14	G	T	7: 127,075,648 (GRCm39)	R552L	probably damaging	Het
Rasgrf1	T	G	9: 89,899,125 (GRCm39)	S1156A	possibly damaging	Het
Rfc4	T	A	16: 22,946,359 (GRCm39)		probably benign	Het
Rfx5	G	T	3: 94,866,272 (GRCm39)	A524S	unknown	Het
Ryr3	G	A	2: 112,596,664 (GRCm39)	P2497S	probably damaging	Het
Scg3	T	C	9: 75,590,992 (GRCm39)	T6A	probably benign	Het
Slc26a9	A	T	1: 131,690,526 (GRCm39)	D510V	possibly damaging	Het
Stpg3	A	G	2: 25,104,586 (GRCm39)	F10L	probably damaging	Het
Tmem40	A	T	6: 115,707,420 (GRCm39)	L253H	probably damaging	Het
Tmie	A	G	9: 110,696,632 (GRCm39)	V83A	probably damaging	Het
Uck2	A	T	1: 167,054,084 (GRCm39)	I218N	probably damaging	Het
Vtn	A	G	11: 78,391,626 (GRCm39)	D310G	possibly damaging	Het
Wdr49	A	T	3: 75,240,580 (GRCm39)	S430T	probably benign	Het
Wtip	A	G	7: 33,832,087 (GRCm39)	V133A	probably benign	Het
Zbtb9	T	A	17: 27,193,666 (GRCm39)	V357E	probably damaging	Het
Zfp953	G	A	13: 67,491,706 (GRCm39)	T82M	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
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'- CTTTGCTTGGACAATTCGACC -3'
(R):5'- TGTTAATGGAAACCTCGGCTG -3'

Sequencing Primer
(F):5'- GGAATCCAATGTTCCAGTGCC -3'
(R):5'- ACTATGTAGCCCTGGATAACCTG -3'

Posted On

2019-06-26