Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01074:Tmem220'

52232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem220

Ensembl Gene

ENSMUSG00000050270

Gene Name

transmembrane protein 220

Synonyms

A730055C05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL01074

Quality Score

Status

Chromosome

Chromosomal Location

66915980-66926138 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 66922999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061786] [ENSMUST00000079077]

AlphaFold

Q8BP07

Predicted Effect

probably benign
Transcript: ENSMUST00000061786

SMART Domains

Protein: ENSMUSP00000057366
Gene: ENSMUSG00000050270

Domain	Start	End	E-Value	Type
Pfam:TMEM220	23	122	4e-30	PFAM
transmembrane domain	127	149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079077

SMART Domains

Protein: ENSMUSP00000078084
Gene: ENSMUSG00000050270

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:TMEM220	23	48	1.2e-9	PFAM
Pfam:TMEM220	64	144	4.3e-19	PFAM
transmembrane domain	151	173	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,849,726 (GRCm39)	D1934G	possibly damaging	Het
Adcy2	A	T	13: 68,944,773 (GRCm39)	I203N	possibly damaging	Het
Asxl3	T	C	18: 22,655,902 (GRCm39)	V1304A	probably damaging	Het
Bltp3a	A	G	17: 28,098,265 (GRCm39)	I136V	possibly damaging	Het
Cmah	A	G	13: 24,648,238 (GRCm39)	D491G	possibly damaging	Het
Cobll1	A	G	2: 64,938,192 (GRCm39)	S364P	probably damaging	Het
Cspg4	T	C	9: 56,806,149 (GRCm39)	L2320P	probably damaging	Het
Defa5	T	A	8: 21,787,592 (GRCm39)	F46L	possibly damaging	Het
Erich6b	T	A	14: 75,896,208 (GRCm39)	N31K	probably benign	Het
Fcrl6	C	T	1: 172,426,680 (GRCm39)	V89M	possibly damaging	Het
Gm5458	G	T	14: 19,649,760 (GRCm39)	L155I	probably damaging	Het
Hlx	T	C	1: 184,460,010 (GRCm39)	D376G	probably damaging	Het
Hmcn1	A	G	1: 150,502,784 (GRCm39)	S3948P	possibly damaging	Het
Igf2bp2	G	A	16: 21,882,454 (GRCm39)	R416W	probably damaging	Het
Lama4	T	C	10: 38,974,484 (GRCm39)		probably null	Het
Lingo4	T	C	3: 94,310,595 (GRCm39)	V511A	probably benign	Het
Mllt3	C	A	4: 87,710,118 (GRCm39)	V29L	probably benign	Het
Mmp16	T	C	4: 18,110,584 (GRCm39)		probably benign	Het
Moxd1	A	G	10: 24,155,282 (GRCm39)	R228G	probably benign	Het
Myrfl	T	C	10: 116,615,490 (GRCm39)	N802S	possibly damaging	Het
Nmu	C	A	5: 76,491,774 (GRCm39)	V121F	probably damaging	Het
Npepps	T	C	11: 97,108,637 (GRCm39)	T760A	probably damaging	Het
Ogfod1	G	T	8: 94,789,634 (GRCm39)	W445L	probably damaging	Het
Oplah	G	A	15: 76,189,948 (GRCm39)	P222S	probably damaging	Het
Or4c116	T	C	2: 88,942,023 (GRCm39)	T278A	probably benign	Het
Slc4a4	T	A	5: 89,327,633 (GRCm39)	L699H	probably damaging	Het
Sod3	C	T	5: 52,525,540 (GRCm39)	Q80*	probably null	Het
Syne2	C	T	12: 76,078,361 (GRCm39)	Q4732*	probably null	Het
Syne2	T	C	12: 76,033,785 (GRCm39)	I3678T	probably benign	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Ush1c	A	G	7: 45,874,674 (GRCm39)		probably benign	Het
Wbp2nl	T	C	15: 82,198,491 (GRCm39)	S343P	possibly damaging	Het

Other mutations in Tmem220

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:Tmem220	APN	11	66,921,933 (GRCm39)	missense	probably damaging	1.00
IGL02364:Tmem220	APN	11	66,925,014 (GRCm39)	missense	probably benign	0.18
IGL02971:Tmem220	APN	11	66,924,933 (GRCm39)	critical splice acceptor site	probably null
R0497:Tmem220	UTSW	11	66,916,748 (GRCm39)	missense	probably damaging	1.00
R2024:Tmem220	UTSW	11	66,924,979 (GRCm39)	missense	possibly damaging	0.87
R3825:Tmem220	UTSW	11	66,916,077 (GRCm39)	missense	possibly damaging	0.94
R4723:Tmem220	UTSW	11	66,920,819 (GRCm39)	missense	possibly damaging	0.89
R7229:Tmem220	UTSW	11	66,916,989 (GRCm39)	missense	unknown
R7939:Tmem220	UTSW	11	66,920,850 (GRCm39)	missense	probably damaging	1.00
R9461:Tmem220	UTSW	11	66,924,979 (GRCm39)	missense	possibly damaging	0.87
R9574:Tmem220	UTSW	11	66,916,093 (GRCm39)	missense	probably damaging	1.00
R9677:Tmem220	UTSW	11	66,925,011 (GRCm39)	missense	probably benign	0.38
R9718:Tmem220	UTSW	11	66,916,086 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21