Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Tmco5b'

168761

Institutional Source

Beutler Lab

Gene Symbol

Tmco5b

Ensembl Gene

ENSMUSG00000041255

Gene Name

transmembrane and coiled-coil domains 5B

Synonyms

4930563P21Rik

MMRRC Submission

039546-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113285732-113297190 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113290791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 147 (S147P)

Ref Sequence

ENSEMBL: ENSMUSP00000042247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040856]

AlphaFold

Q80X59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040856
AA Change: S147P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042247
Gene: ENSMUSG00000041255
AA Change: S147P

Domain	Start	End	E-Value	Type
Pfam:TMCO5	28	306	5.4e-121	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176208

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,477,820 (GRCm38)	N488S	probably benign	Het
A430105I19Rik	T	G	2: 118,760,532 (GRCm38)	K173N	probably damaging	Het
Acot10	G	A	15: 20,665,507 (GRCm38)	R383C	probably damaging	Het
Acsm2	A	G	7: 119,578,126 (GRCm38)	D263G	probably damaging	Het
Adcy2	G	T	13: 68,796,535 (GRCm38)	Q243K	probably benign	Het
Aggf1	G	A	13: 95,356,413 (GRCm38)	R563*	probably null	Het
Agt	A	G	8: 124,559,455 (GRCm38)	F296S	probably damaging	Het
Akap14	T	C	X: 37,163,965 (GRCm38)	D39G	possibly damaging	Het
Akt3	T	C	1: 177,103,042 (GRCm38)	M117V	probably benign	Het
Ankar	T	C	1: 72,643,291 (GRCm38)	T1154A	probably benign	Het
Arvcf	T	A	16: 18,389,386 (GRCm38)	L70Q	probably damaging	Het
Ccdc171	A	T	4: 83,681,095 (GRCm38)	K724*	probably null	Het
Ccdc91	A	G	6: 147,534,172 (GRCm38)	T85A	possibly damaging	Het
Cdh3	C	T	8: 106,538,997 (GRCm38)	T224I	probably damaging	Het
Clstn3	T	C	6: 124,449,917 (GRCm38)	I482V	probably benign	Het
Cnot9	A	G	1: 74,523,600 (GRCm38)	E176G	probably damaging	Het
Cntnap4	T	G	8: 112,881,763 (GRCm38)	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,851,480 (GRCm38)	M1K	probably null	Het
Cyp2c23	A	G	19: 44,005,508 (GRCm38)	I473T	probably benign	Het
Dbil5	T	A	11: 76,218,450 (GRCm38)	M60K	probably benign	Het
Dgkg	A	T	16: 22,500,379 (GRCm38)	L644Q	probably damaging	Het
Disp3	T	C	4: 148,249,825 (GRCm38)	I1004V	probably benign	Het
Egf	T	A	3: 129,713,006 (GRCm38)	I599F	probably damaging	Het
Epc2	A	G	2: 49,536,663 (GRCm38)	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,357,677 (GRCm38)		probably benign	Het
Extl3	A	T	14: 65,075,867 (GRCm38)	V622E	probably benign	Het
Fam227a	C	T	15: 79,626,245 (GRCm38)	V403I	probably benign	Het
Fat2	T	A	11: 55,262,673 (GRCm38)	D3571V	probably benign	Het
Fcho2	A	G	13: 98,749,850 (GRCm38)		probably null	Het
Fras1	A	G	5: 96,528,586 (GRCm38)	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,055,940 (GRCm38)	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,154,944 (GRCm38)	N113S	probably damaging	Het
Glg1	T	C	8: 111,197,675 (GRCm38)	Y227C	probably damaging	Het
Gm14851	T	A	8: 21,095,201 (GRCm38)	Q75L	probably benign	Het
Gm5141	A	T	13: 62,774,270 (GRCm38)	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,628,437 (GRCm38)	T104S	probably benign	Het
Jph1	A	C	1: 17,091,652 (GRCm38)	V262G	probably benign	Het
Kank1	C	G	19: 25,410,349 (GRCm38)	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,499,327 (GRCm38)	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,573,873 (GRCm38)		probably benign	Het
Lyzl1	G	T	18: 4,181,192 (GRCm38)	W77L	probably null	Het
Nipbl	T	G	15: 8,351,280 (GRCm38)	N676T	probably benign	Het
Obscn	C	T	11: 59,080,160 (GRCm38)	S2300N	probably damaging	Het
Olfr459	T	G	6: 41,771,903 (GRCm38)	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,758,839 (GRCm38)	M350L	probably benign	Het
Pecam1	T	C	11: 106,688,856 (GRCm38)	D460G	probably damaging	Het
Pik3c2a	T	A	7: 116,388,065 (GRCm38)	K540N	probably benign	Het
Prdm12	T	A	2: 31,640,193 (GRCm38)	I32N	probably damaging	Het
Prkd1	T	C	12: 50,366,352 (GRCm38)	S679G	probably damaging	Het
Psen2	C	T	1: 180,228,854 (GRCm38)	A393T	probably damaging	Het
Ptprh	T	A	7: 4,580,889 (GRCm38)	T235S	probably benign	Het
Ranbp3	C	T	17: 56,705,527 (GRCm38)	P182L	probably benign	Het
Serpinb7	A	T	1: 107,451,660 (GRCm38)	K266*	probably null	Het
Sesn3	T	C	9: 14,308,521 (GRCm38)	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,354,190 (GRCm38)	M818T	probably damaging	Het
Slc25a53	C	A	X: 137,015,335 (GRCm38)	C4F	unknown	Het
Snx1	T	A	9: 66,096,597 (GRCm38)	L255F	probably benign	Het
Sptbn2	T	G	19: 4,718,976 (GRCm38)	S46A	possibly damaging	Het
Taf4	A	G	2: 179,933,027 (GRCm38)	F595S	probably damaging	Het
Tec	A	T	5: 72,786,755 (GRCm38)	V103E	probably damaging	Het
Uchl5	C	T	1: 143,799,937 (GRCm38)	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994 (GRCm38)	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385 (GRCm38)	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 57,003,073 (GRCm38)	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,777,303 (GRCm38)	Y473*	probably null	Het
Zyg11b	G	A	4: 108,266,213 (GRCm38)	P186S	probably damaging	Het

Other mutations in Tmco5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Tmco5b	APN	2	113,296,849 (GRCm38)	missense	probably damaging	0.99
IGL01160:Tmco5b	APN	2	113,287,798 (GRCm38)	splice site	probably benign
IGL01501:Tmco5b	APN	2	113,291,381 (GRCm38)	missense	probably null	0.81
IGL02244:Tmco5b	APN	2	113,288,274 (GRCm38)	missense	probably damaging	1.00
IGL02899:Tmco5b	APN	2	113,296,920 (GRCm38)	missense	probably benign	0.26
R4821:Tmco5b	UTSW	2	113,289,757 (GRCm38)	missense	probably benign	0.00
R4972:Tmco5b	UTSW	2	113,296,993 (GRCm38)	missense	probably damaging	0.99
R7076:Tmco5b	UTSW	2	113,287,421 (GRCm38)	missense	probably damaging	1.00
R7200:Tmco5b	UTSW	2	113,291,377 (GRCm38)	missense	probably damaging	1.00
R7750:Tmco5b	UTSW	2	113,288,264 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCACATTCAATGGAGAGTCAGCC -3'
(R):5'- CCCTTACTTGAAGGGAAACAGCCAC -3'

Sequencing Primer
(F):5'- TTCAATGGAGAGTCAGCCTACTG -3'
(R):5'- GGTGACCTAGTATTCAGGCAC -3'

Posted On

2014-04-13