Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01160:Tmco5b'

53424

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmco5b

Ensembl Gene

ENSMUSG00000041255

Gene Name

transmembrane and coiled-coil domains 5B

Synonyms

4930563P21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL01160

Quality Score

Status

Chromosome

Chromosomal Location

113116077-113127535 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 113118143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042247 (fasta)

Gene Model

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

AlphaFold

Q80X59

Predicted Effect

probably benign
Transcript: ENSMUST00000040856

SMART Domains

Protein: ENSMUSP00000042247
Gene: ENSMUSG00000041255

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176208

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11a	A	G	8: 12,894,609 (GRCm39)	T188A	probably damaging	Het
Bfsp2	A	G	9: 103,357,367 (GRCm39)	V20A	probably benign	Het
Btn1a1	G	A	13: 23,645,907 (GRCm39)	T154M	possibly damaging	Het
Ccdc117	T	C	11: 5,481,532 (GRCm39)	S200G	probably benign	Het
Col24a1	G	A	3: 145,213,468 (GRCm39)	G1358S	probably damaging	Het
Crlf2	T	C	5: 109,705,436 (GRCm39)	T40A	possibly damaging	Het
Cstf2	T	A	X: 132,961,478 (GRCm39)		probably benign	Het
Dcdc2a	A	G	13: 25,303,312 (GRCm39)	D281G	probably benign	Het
Dmd	T	C	X: 82,968,567 (GRCm39)	L1855P	probably damaging	Het
Dnajc5g	T	C	5: 31,267,529 (GRCm39)	V112A	probably benign	Het
Dnmt1	G	A	9: 20,828,615 (GRCm39)	P828S	possibly damaging	Het
Dock3	A	T	9: 106,783,887 (GRCm39)	S268R	probably damaging	Het
Dpep2	C	T	8: 106,713,076 (GRCm39)	V440M	possibly damaging	Het
F8	A	T	X: 74,331,667 (GRCm39)	M741K	probably damaging	Het
Fermt3	C	T	19: 6,980,626 (GRCm39)		probably null	Het
Fosb	A	G	7: 19,041,039 (GRCm39)		probably null	Het
Gm3238	C	A	10: 77,606,717 (GRCm39)		probably benign	Het
Hyal5	T	A	6: 24,876,480 (GRCm39)	S118T	possibly damaging	Het
Igf2r	T	C	17: 12,923,662 (GRCm39)	D1140G	possibly damaging	Het
Ighmbp2	G	T	19: 3,326,750 (GRCm39)		probably benign	Het
Irf3	C	A	7: 44,648,220 (GRCm39)	D28E	possibly damaging	Het
Ly6i	A	T	15: 74,851,881 (GRCm39)	I96N	possibly damaging	Het
Macrod2	T	C	2: 140,666,962 (GRCm39)		probably benign	Het
Or2b4	A	G	17: 38,116,941 (GRCm39)	R302G	probably benign	Het
Or4c117	A	T	2: 88,956,072 (GRCm39)	M1K	probably null	Het
Or4f15	A	G	2: 111,814,278 (GRCm39)	L47P	probably damaging	Het
Or52z1	C	T	7: 103,436,843 (GRCm39)	G214R	probably damaging	Het
Otof	A	T	5: 30,538,879 (GRCm39)	M1128K	probably benign	Het
Parp9	A	T	16: 35,768,368 (GRCm39)	I183F	probably damaging	Het
Pbsn	T	C	X: 76,886,177 (GRCm39)	N147S	probably benign	Het
Pcf11	A	G	7: 92,310,894 (GRCm39)	S365P	possibly damaging	Het
Pcnx4	T	G	12: 72,626,151 (GRCm39)	V1119G	probably damaging	Het
Qng1	A	G	13: 58,529,790 (GRCm39)	V274A	probably damaging	Het
Rsf1	C	T	7: 97,334,791 (GRCm39)	T1308M	probably damaging	Het
Sidt2	A	G	9: 45,854,024 (GRCm39)	L647P	probably damaging	Het
Slc28a2b	A	C	2: 122,355,277 (GRCm39)		probably null	Het
Slc7a8	A	G	14: 54,972,581 (GRCm39)	V280A	probably benign	Het
Spart	T	A	3: 55,029,177 (GRCm39)	F323I	probably damaging	Het
Supt16	A	T	14: 52,420,589 (GRCm39)	D70E	probably benign	Het
Tmc4	T	C	7: 3,678,517 (GRCm39)	Y38C	possibly damaging	Het
Trav10	G	A	14: 53,743,239 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,489,477 (GRCm39)	M454K	probably damaging	Het
Vmn2r85	T	C	10: 130,254,690 (GRCm39)	T665A	probably benign	Het
Yipf7	T	C	5: 69,676,660 (GRCm39)	I160V	probably benign	Het
Zc3h18	T	C	8: 123,134,989 (GRCm39)		probably benign	Het
Zfp429	G	A	13: 67,539,132 (GRCm39)	S91L	probably damaging	Het

Other mutations in Tmco5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Tmco5b	APN	2	113,127,194 (GRCm39)	missense	probably damaging	0.99
IGL01501:Tmco5b	APN	2	113,121,726 (GRCm39)	missense	probably null	0.81
IGL02244:Tmco5b	APN	2	113,118,619 (GRCm39)	missense	probably damaging	1.00
IGL02899:Tmco5b	APN	2	113,127,265 (GRCm39)	missense	probably benign	0.26
R1495:Tmco5b	UTSW	2	113,121,136 (GRCm39)	missense	possibly damaging	0.93
R4821:Tmco5b	UTSW	2	113,120,102 (GRCm39)	missense	probably benign	0.00
R4972:Tmco5b	UTSW	2	113,127,338 (GRCm39)	missense	probably damaging	0.99
R7076:Tmco5b	UTSW	2	113,117,766 (GRCm39)	missense	probably damaging	1.00
R7200:Tmco5b	UTSW	2	113,121,722 (GRCm39)	missense	probably damaging	1.00
R7750:Tmco5b	UTSW	2	113,118,609 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-06-28