Mutagenetix > Incidental Mutation

Incidental Mutation 'R1622:Tmco5'

174689

Institutional Source

Beutler Lab

Gene Symbol

Tmco5

Ensembl Gene

ENSMUSG00000027355

Gene Name

transmembrane and coiled-coil domains 5

Synonyms

1700095F04Rik

MMRRC Submission

039659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116709172-116722975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116710796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 39 (M39L)

Ref Sequence

ENSEMBL: ENSMUSP00000122739 (fasta)

Gene Model

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

AlphaFold

Q9D9D5

Predicted Effect

probably benign
Transcript: ENSMUST00000028834
AA Change: M39L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000028834
Gene: ENSMUSG00000027355
AA Change: M39L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123598
AA Change: M39L

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115690
Gene: ENSMUSG00000027355
AA Change: M39L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151391

Predicted Effect

probably benign
Transcript: ENSMUST00000155470
AA Change: M39L

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122739
Gene: ENSMUSG00000027355
AA Change: M39L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,696 (GRCm39)	E207G	probably benign	Het
Arhgap19	T	A	19: 41,790,412 (GRCm39)	S19C	probably benign	Het
Arhgef18	T	A	8: 3,491,272 (GRCm39)	D374E	possibly damaging	Het
Atf2	A	G	2: 73,684,133 (GRCm39)		probably null	Het
Cadm1	A	G	9: 47,725,139 (GRCm39)	N300S	probably benign	Het
Ccdc159	A	T	9: 21,840,666 (GRCm39)	I78F	possibly damaging	Het
Cdh4	T	C	2: 179,530,885 (GRCm39)	I589T	possibly damaging	Het
Clstn1	T	C	4: 149,713,864 (GRCm39)	I182T	probably damaging	Het
Cnga3	T	A	1: 37,283,909 (GRCm39)		probably benign	Het
Cntln	T	A	4: 84,981,418 (GRCm39)	S865R	probably damaging	Het
Col5a3	C	T	9: 20,683,516 (GRCm39)	G1552E	unknown	Het
Col6a4	A	C	9: 105,874,334 (GRCm39)	S2218A	probably benign	Het
Ephb1	T	C	9: 101,878,910 (GRCm39)	T527A	probably benign	Het
Fkbp15	T	A	4: 62,241,439 (GRCm39)	I569F	possibly damaging	Het
Gabra4	A	G	5: 71,729,329 (GRCm39)	S484P	possibly damaging	Het
Glce	T	C	9: 61,977,843 (GRCm39)	I14V	possibly damaging	Het
Gm4884	A	T	7: 40,692,265 (GRCm39)	Q78L	probably damaging	Het
Gpn1	A	G	5: 31,660,748 (GRCm39)	T180A	possibly damaging	Het
Gpr6	A	T	10: 40,947,288 (GRCm39)	I98N	probably damaging	Het
Hcrtr2	T	C	9: 76,230,722 (GRCm39)	N22S	probably benign	Het
Hfm1	C	T	5: 107,041,389 (GRCm39)	V665I	possibly damaging	Het
Il4ra	T	A	7: 125,169,225 (GRCm39)	I159N	possibly damaging	Het
Irf8	G	C	8: 121,466,561 (GRCm39)	C2S	possibly damaging	Het
Itih2	A	T	2: 10,106,890 (GRCm39)	N701K	probably benign	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mmp10	T	A	9: 7,504,996 (GRCm39)	Y263*	probably null	Het
Morc3	T	A	16: 93,671,694 (GRCm39)	M835K	probably benign	Het
Msh3	A	G	13: 92,481,462 (GRCm39)		probably null	Het
Ncbp1	A	G	4: 46,171,963 (GRCm39)	H777R	possibly damaging	Het
Nfatc1	A	G	18: 80,710,182 (GRCm39)	M514T	probably damaging	Het
Nlrp3	T	A	11: 59,439,302 (GRCm39)	I293N	probably damaging	Het
Pank2	A	T	2: 131,115,889 (GRCm39)	E102D	probably damaging	Het
Pbrm1	A	G	14: 30,754,505 (GRCm39)	D175G	probably benign	Het
Pcdh9	T	C	14: 94,123,311 (GRCm39)	D953G	probably benign	Het
Pibf1	G	A	14: 99,423,917 (GRCm39)	V497I	probably benign	Het
Pkd1	G	A	17: 24,800,614 (GRCm39)	M3085I	probably benign	Het
Prss58	A	T	6: 40,874,248 (GRCm39)	C143S	possibly damaging	Het
Rassf8	A	G	6: 145,765,829 (GRCm39)		probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spag7	T	A	11: 70,555,688 (GRCm39)	D73V	probably damaging	Het
Sult3a1	A	T	10: 33,746,246 (GRCm39)	M189L	probably benign	Het
Syt4	T	C	18: 31,577,069 (GRCm39)	D95G	probably damaging	Het
Tbc1d8	A	C	1: 39,419,317 (GRCm39)	S766A	probably benign	Het
Trcg1	A	G	9: 57,155,955 (GRCm39)	N797S	possibly damaging	Het
Trim34a	A	T	7: 103,910,545 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,009,357 (GRCm39)		probably benign	Het
Urb2	A	G	8: 124,756,363 (GRCm39)	N690S	probably benign	Het
Zfp445	A	G	9: 122,681,614 (GRCm39)	Y776H	possibly damaging	Het
Zfp52	G	A	17: 21,781,833 (GRCm39)	M560I	probably benign	Het
Zfp608	A	G	18: 55,121,366 (GRCm39)	S74P	probably benign	Het
Zfp629	A	G	7: 127,211,012 (GRCm39)	C266R	probably damaging	Het
Zscan2	A	G	7: 80,525,134 (GRCm39)	K285R	probably benign	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
IGL03302:Tmco5	APN	2	116,722,760 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- AATGGAGATGGAAAAGTGTGCTCCC -3'
(R):5'- AAGAATGACCTGCTTATTCCCTGCC -3'

Sequencing Primer
(F):5'- GTGTGCTCCCAGGAAGAG -3'
(R):5'- GTTAACTCAAGGTGACCTCTGC -3'

Posted On

2014-04-24