Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03380:Tmem207'

420638

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem207

Ensembl Gene

ENSMUSG00000091972

Gene Name

transmembrane protein 207

Synonyms

100043057, LOC224058

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL03380

Quality Score

Status

Chromosome

Chromosomal Location

26322543-26345521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26345407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 20 (C20S)

Ref Sequence

ENSEMBL: ENSMUSP00000127563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165687]

AlphaFold

P86045

Predicted Effect

probably damaging
Transcript: ENSMUST00000165687
AA Change: C20S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127563
Gene: ENSMUSG00000091972
AA Change: C20S

Domain	Start	End	E-Value	Type
Pfam:TMEM52	31	92	4.2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231658

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,248,574 (GRCm39)	N2774D	probably benign	Het
Aldh1a2	T	G	9: 71,162,399 (GRCm39)	Y149*	probably null	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Arhgap23	A	G	11: 97,343,344 (GRCm39)	D542G	probably damaging	Het
Atp8a1	T	C	5: 67,889,529 (GRCm39)	E582G	probably benign	Het
C4b	A	T	17: 34,959,260 (GRCm39)	V438D	probably benign	Het
Caps2	A	G	10: 112,036,601 (GRCm39)	E345G	probably benign	Het
Cdk19	C	T	10: 40,352,908 (GRCm39)	P308L	probably benign	Het
Drc3	A	G	11: 60,268,731 (GRCm39)	E307G	probably benign	Het
Dst	G	A	1: 34,296,881 (GRCm39)	A1041T	probably damaging	Het
Elp2	T	C	18: 24,755,537 (GRCm39)	V428A	probably benign	Het
Eml5	G	T	12: 98,840,906 (GRCm39)		probably benign	Het
Fam120b	G	A	17: 15,623,396 (GRCm39)		probably benign	Het
Fpr-rs6	G	A	17: 20,403,245 (GRCm39)	L39F	possibly damaging	Het
Fsd1	T	C	17: 56,302,456 (GRCm39)	I300T	probably benign	Het
Hsd17b6	T	C	10: 127,830,207 (GRCm39)		probably null	Het
Hspa1a	T	C	17: 35,189,253 (GRCm39)	K550R	probably benign	Het
Krba1	A	G	6: 48,380,387 (GRCm39)	H37R	possibly damaging	Het
Lama2	T	C	10: 26,926,261 (GRCm39)	D2117G	probably damaging	Het
Map4k2	T	C	19: 6,394,620 (GRCm39)	F332S	possibly damaging	Het
Mindy1	T	C	3: 95,198,329 (GRCm39)		probably benign	Het
Nhsl1	T	G	10: 18,399,627 (GRCm39)	Y284*	probably null	Het
Or5b109	T	A	19: 13,212,365 (GRCm39)	F250L	probably benign	Het
Pkhd1	T	A	1: 20,270,894 (GRCm39)	T3220S	probably damaging	Het
Pramel7	A	T	2: 87,321,716 (GRCm39)	D106E	probably benign	Het
Psme3	T	C	11: 101,210,852 (GRCm39)		probably null	Het
Rsph1	T	C	17: 31,496,210 (GRCm39)	E7G	unknown	Het
Slc13a2	T	C	11: 78,289,908 (GRCm39)	T469A	probably benign	Het
Slc30a9	C	T	5: 67,473,054 (GRCm39)	T46I	probably benign	Het
Slc37a4	T	G	9: 44,311,320 (GRCm39)	S204A	probably benign	Het
Slc8b1	T	C	5: 120,657,800 (GRCm39)	F88L	probably damaging	Het
Smpd3	C	T	8: 106,986,291 (GRCm39)	V504I	probably benign	Het
Tbx4	A	G	11: 85,805,465 (GRCm39)	N418S	probably benign	Het
Tmem132c	A	G	5: 127,613,506 (GRCm39)	T470A	probably benign	Het
Usp43	G	A	11: 67,766,142 (GRCm39)	A761V	possibly damaging	Het
Vmn1r191	C	T	13: 22,363,055 (GRCm39)	S233N	probably damaging	Het
Vmn2r58	T	A	7: 41,513,874 (GRCm39)	E256D	probably benign	Het
Zc3hav1	T	C	6: 38,313,493 (GRCm39)	Y184C	probably damaging	Het

Other mutations in Tmem207

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01101:Tmem207	APN	16	26,336,627 (GRCm39)	nonsense	probably null
IGL02140:Tmem207	APN	16	26,335,490 (GRCm39)	missense	probably benign	0.01
IGL02249:Tmem207	APN	16	26,336,617 (GRCm39)	missense	possibly damaging	0.86
IGL02394:Tmem207	APN	16	26,335,586 (GRCm39)	splice site	probably benign
R0058:Tmem207	UTSW	16	26,343,579 (GRCm39)	splice site	probably benign
R0058:Tmem207	UTSW	16	26,343,579 (GRCm39)	splice site	probably benign
R1839:Tmem207	UTSW	16	26,343,571 (GRCm39)	missense	possibly damaging	0.80
R4943:Tmem207	UTSW	16	26,336,603 (GRCm39)	nonsense	probably null
R7348:Tmem207	UTSW	16	26,335,577 (GRCm39)	missense	possibly damaging	0.68
R7947:Tmem207	UTSW	16	26,335,495 (GRCm39)	missense	possibly damaging	0.82
R9358:Tmem207	UTSW	16	26,345,434 (GRCm39)	missense	probably benign	0.07
R9464:Tmem207	UTSW	16	26,345,413 (GRCm39)	missense
R9564:Tmem207	UTSW	16	26,335,499 (GRCm39)	nonsense	probably null

Posted On

2016-08-02