Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00469:Fam199x'

3090

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam199x

Ensembl Gene

ENSMUSG00000042595

Gene Name

family with sequence similarity 199, X-linked

Synonyms

BC031748

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00469

Quality Score

Status

Chromosome

Chromosomal Location

135950343-135983252 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135972860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 222 (I222T)

Ref Sequence

ENSEMBL: ENSMUSP00000045544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047852]

AlphaFold

Q8K2D0

Predicted Effect

probably damaging
Transcript: ENSMUST00000047852
AA Change: I222T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045544
Gene: ENSMUSG00000042595
AA Change: I222T

Domain	Start	End	E-Value	Type
Pfam:FAM199X	66	388	7.8e-206	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d4	A	G	6: 119,245,239 (GRCm39)	I316V	probably damaging	Het
Ccdc9b	T	C	2: 118,590,170 (GRCm39)	S225G	possibly damaging	Het
Ccnb1ip1	G	A	14: 51,029,556 (GRCm39)	R169C	probably damaging	Het
Crip1	G	T	12: 113,115,755 (GRCm39)	D59Y	probably damaging	Het
Cstf2	T	A	X: 132,974,905 (GRCm39)	H354Q	probably damaging	Het
Dcaf8l	C	A	X: 88,449,944 (GRCm39)	V62F	possibly damaging	Het
Dchs1	A	T	7: 105,404,468 (GRCm39)	D2691E	probably damaging	Het
Dock2	T	C	11: 34,179,603 (GRCm39)		probably benign	Het
Flt1	A	T	5: 147,540,415 (GRCm39)	L758Q	probably damaging	Het
Fxr2	T	G	11: 69,532,965 (GRCm39)	L181R	possibly damaging	Het
Gpr158	G	T	2: 21,751,606 (GRCm39)		probably benign	Het
Hsd3b9	T	A	3: 98,363,716 (GRCm39)	Q43L	probably benign	Het
Lancl2	T	C	6: 57,711,011 (GRCm39)	W390R	probably damaging	Het
Pola1	C	T	X: 92,638,391 (GRCm39)	V459I	possibly damaging	Het
Pola1	T	C	X: 92,604,991 (GRCm39)	T981A	probably damaging	Het
Prss44	T	C	9: 110,644,557 (GRCm39)	S222P	probably benign	Het
Sec16a	T	C	2: 26,318,312 (GRCm39)	N1593S	probably damaging	Het
Slco2b1	A	G	7: 99,309,318 (GRCm39)	I671T	probably benign	Het
Tm9sf4	T	C	2: 153,044,275 (GRCm39)	I509T	probably damaging	Het
Trpc6	A	G	9: 8,626,702 (GRCm39)	T351A	probably benign	Het
Utrn	T	C	10: 12,282,273 (GRCm39)	Q768R	probably damaging	Het
Zfp984	C	T	4: 147,839,343 (GRCm39)	G503S	probably benign	Het

Other mutations in Fam199x

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02215:Fam199x	APN	X	135,963,399 (GRCm39)	splice site	probably benign
IGL02480:Fam199x	APN	X	135,950,788 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20