Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03302:Tmco5'

416257

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmco5

Ensembl Gene

ENSMUSG00000027355

Gene Name

transmembrane and coiled-coil domains 5

Synonyms

1700095F04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03302

Quality Score

Status

Chromosome

Chromosomal Location

116709172-116722975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116722760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 294 (T294S)

Ref Sequence

ENSEMBL: ENSMUSP00000028834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028834] [ENSMUST00000123598] [ENSMUST00000155470]

AlphaFold

Q9D9D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028834
AA Change: T294S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028834
Gene: ENSMUSG00000027355
AA Change: T294S

Domain	Start	End	E-Value	Type
Pfam:TMCO5	28	302	6.6e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123598

SMART Domains

Protein: ENSMUSP00000115690
Gene: ENSMUSG00000027355

Domain	Start	End	E-Value	Type
Pfam:TMCO5	27	250	3e-79	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146144

Predicted Effect

probably benign
Transcript: ENSMUST00000155470

SMART Domains

Protein: ENSMUSP00000122739
Gene: ENSMUSG00000027355

Domain	Start	End	E-Value	Type
Pfam:TMCO5	27	164	1.8e-47	PFAM
Pfam:TMCO5	161	226	1.5e-14	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,858,576 (GRCm39)	Y542F	possibly damaging	Het
Ankrd34b	A	T	13: 92,576,151 (GRCm39)	N461I	possibly damaging	Het
Ccl24	T	C	5: 135,599,732 (GRCm39)	K93E	probably benign	Het
Ccr9	T	A	9: 123,608,601 (GRCm39)	D94E	probably damaging	Het
Cd79a	G	A	7: 24,598,759 (GRCm39)	V103M	probably damaging	Het
Ces1e	A	G	8: 93,950,521 (GRCm39)		probably null	Het
Cul9	T	C	17: 46,837,566 (GRCm39)	E993G	probably damaging	Het
Cyp4a14	T	C	4: 115,348,575 (GRCm39)	I330V	probably benign	Het
Cyp7a1	T	C	4: 6,273,801 (GRCm39)	D35G	probably benign	Het
Dmpk	C	A	7: 18,820,411 (GRCm39)		probably benign	Het
Gcnt1	G	T	19: 17,306,547 (GRCm39)	R393S	probably benign	Het
Lctl	C	T	9: 64,042,130 (GRCm39)		probably benign	Het
Mttp	A	T	3: 137,810,468 (GRCm39)	I664N	possibly damaging	Het
Myh1	C	T	11: 67,102,328 (GRCm39)	A873V	probably benign	Het
Nedd9	A	G	13: 41,492,330 (GRCm39)	V54A	probably damaging	Het
Or3a1b	T	G	11: 74,012,459 (GRCm39)	C115G	possibly damaging	Het
Or4f14	A	T	2: 111,743,167 (GRCm39)	V36E	possibly damaging	Het
Or6b1	G	T	6: 42,814,937 (GRCm39)	E41*	probably null	Het
Pak6	A	T	2: 118,523,784 (GRCm39)	E313V	probably benign	Het
Pla2g4a	A	G	1: 149,740,698 (GRCm39)	S402P	probably benign	Het
Polq	T	C	16: 36,892,134 (GRCm39)	M2012T	probably damaging	Het
Ppp1r12b	A	T	1: 134,765,788 (GRCm39)		probably benign	Het
Rbp3	A	G	14: 33,676,616 (GRCm39)	H188R	probably damaging	Het
Rps6ka2	C	A	17: 7,566,787 (GRCm39)	Q682K	possibly damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Spag4	A	G	2: 155,910,340 (GRCm39)	Q322R	probably damaging	Het
Spef2	T	C	15: 9,676,466 (GRCm39)	T702A	probably benign	Het
Spmap2l	T	G	5: 77,202,423 (GRCm39)	S281R	probably benign	Het
Taf3	G	T	2: 9,956,942 (GRCm39)	F408L	probably damaging	Het
Tead2	T	G	7: 44,882,323 (GRCm39)	Y121D	possibly damaging	Het
Trim37	A	G	11: 87,037,827 (GRCm39)	E187G	possibly damaging	Het
Ubb	T	A	11: 62,443,243 (GRCm39)	L91Q	probably damaging	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Zan	T	C	5: 137,466,652 (GRCm39)	S402G	possibly damaging	Het
Zc3h7a	T	A	16: 10,959,574 (GRCm39)	H793L	probably damaging	Het
Zfhx4	C	T	3: 5,468,773 (GRCm39)	T2977I	possibly damaging	Het

Other mutations in Tmco5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01787:Tmco5	APN	2	116,717,781 (GRCm39)	missense	probably damaging	1.00
R0054:Tmco5	UTSW	2	116,717,768 (GRCm39)	missense	probably damaging	0.98
R0054:Tmco5	UTSW	2	116,717,768 (GRCm39)	missense	probably damaging	0.98
R0369:Tmco5	UTSW	2	116,711,269 (GRCm39)	splice site	probably null
R0485:Tmco5	UTSW	2	116,720,588 (GRCm39)	missense	probably benign	0.15
R0973:Tmco5	UTSW	2	116,713,699 (GRCm39)	missense	probably benign	0.04
R0973:Tmco5	UTSW	2	116,713,699 (GRCm39)	missense	probably benign	0.04
R0974:Tmco5	UTSW	2	116,713,699 (GRCm39)	missense	probably benign	0.04
R1622:Tmco5	UTSW	2	116,710,796 (GRCm39)	missense	probably benign	0.28
R1838:Tmco5	UTSW	2	116,711,360 (GRCm39)	missense	probably damaging	1.00
R2060:Tmco5	UTSW	2	116,722,736 (GRCm39)	missense	probably damaging	1.00
R3761:Tmco5	UTSW	2	116,717,787 (GRCm39)	splice site	probably null
R4514:Tmco5	UTSW	2	116,710,795 (GRCm39)	missense	probably damaging	1.00
R4911:Tmco5	UTSW	2	116,722,689 (GRCm39)	missense	possibly damaging	0.92
R7373:Tmco5	UTSW	2	116,717,226 (GRCm39)	missense	probably benign	0.09
R7682:Tmco5	UTSW	2	116,716,752 (GRCm39)	missense	probably benign	0.35
R7752:Tmco5	UTSW	2	116,722,743 (GRCm39)	missense	probably damaging	0.99
R8342:Tmco5	UTSW	2	116,710,734 (GRCm39)	missense	probably damaging	1.00
R9289:Tmco5	UTSW	2	116,710,745 (GRCm39)	missense	probably benign	0.20
R9568:Tmco5	UTSW	2	116,710,730 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02