Mutagenetix > Incidental Mutation

Incidental Mutation 'R6553:Gm5622'

521800

Institutional Source

Beutler Lab

Gene Symbol

Gm5622

Ensembl Gene

ENSMUSG00000079244

Gene Name

predicted gene 5622

Synonyms

MMRRC Submission

044678-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6553 (G1)

Quality Score

131.008

Status

Not validated

Chromosome

Chromosomal Location

51790247-51900410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51895200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 120 (K120E)

Ref Sequence

ENSEMBL: ENSMUSP00000093884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096170]

AlphaFold

Q810Q0

Predicted Effect

probably damaging
Transcript: ENSMUST00000096170
AA Change: K120E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093884
Gene: ENSMUSG00000079244
AA Change: K120E

Domain	Start	End	E-Value	Type
Pfam:Takusan	56	144	1.3e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	G	T	5: 121,639,250 (GRCm39)	D598E	probably benign	Het
Ascc3	A	G	10: 50,718,273 (GRCm39)	K1989E	probably benign	Het
Asic5	A	T	3: 81,916,773 (GRCm39)	T288S	possibly damaging	Het
Chd1	A	G	17: 15,945,692 (GRCm39)	N72S	probably benign	Het
Ciita	T	A	16: 10,329,609 (GRCm39)	V628E	probably benign	Het
Cyp2c50	A	G	19: 40,079,046 (GRCm39)	T130A	probably benign	Het
Dapk1	T	A	13: 60,908,975 (GRCm39)	V1196E	probably damaging	Het
Dis3l2	T	A	1: 86,673,216 (GRCm39)	I69N	probably damaging	Het
Exph5	A	G	9: 53,213,012 (GRCm39)		probably benign	Het
Fcgbp	A	T	7: 27,813,404 (GRCm39)	Q2313L	possibly damaging	Het
Gm2888	A	G	14: 3,037,722 (GRCm38)	H238R	possibly damaging	Het
Gpr155	A	T	2: 73,179,989 (GRCm39)	I157N	probably damaging	Het
Hltf	T	C	3: 20,126,558 (GRCm39)	V245A	probably damaging	Het
Kmt2e	G	A	5: 23,668,024 (GRCm39)	V28I	probably damaging	Het
Lsm3	GATATATA	GATATATATA	6: 91,496,617 (GRCm39)		probably null	Het
Nprl3	C	T	11: 32,184,812 (GRCm39)	R399Q	probably benign	Het
Or6c6c	C	T	10: 129,540,932 (GRCm39)	R62C	probably benign	Het
Ptgs2	T	C	1: 149,979,738 (GRCm39)	V281A	possibly damaging	Het
Speer4f2	A	G	5: 17,579,420 (GRCm39)	E73G	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trav13n-3	A	G	14: 53,574,618 (GRCm39)	T14A	probably benign	Het
Trav9d-4	A	T	14: 53,221,198 (GRCm39)	Q63L	probably benign	Het
Vmn2r75	T	A	7: 85,813,453 (GRCm39)	N450Y	probably benign	Het
Vmn2r97	G	A	17: 19,150,566 (GRCm39)	W471*	probably null	Het
Zfp27	G	A	7: 29,595,818 (GRCm39)	T49I	possibly damaging	Het
Zpld2	A	G	4: 133,929,367 (GRCm39)	S313P	probably damaging	Het

Other mutations in Gm5622

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1368:Gm5622	UTSW	14	51,899,647 (GRCm39)	missense	possibly damaging	0.85
R1950:Gm5622	UTSW	14	51,893,229 (GRCm39)	missense	probably benign	0.20
R6143:Gm5622	UTSW	14	51,892,372 (GRCm39)	missense	possibly damaging	0.85
R7138:Gm5622	UTSW	14	51,893,339 (GRCm39)	nonsense	probably null
R7139:Gm5622	UTSW	14	51,893,339 (GRCm39)	nonsense	probably null
R7141:Gm5622	UTSW	14	51,893,339 (GRCm39)	nonsense	probably null
R7209:Gm5622	UTSW	14	51,893,363 (GRCm39)	missense	possibly damaging	0.71
R7293:Gm5622	UTSW	14	51,893,339 (GRCm39)	nonsense	probably null
R8085:Gm5622	UTSW	14	51,895,201 (GRCm39)	missense	probably damaging	1.00
R8836:Gm5622	UTSW	14	51,796,770 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TACTGTGGACTCTAGTCTCGGG -3'
(R):5'- GCCTGGATAAGTTGGTGGAC -3'

Sequencing Primer
(F):5'- GACTCTAGTCTCGGGCTGTC -3'
(R):5'- CCTGGATAAGTTGGTGGACTGTTAC -3'

Posted On

2018-06-06