Mutagenetix > Incidental Mutation

Incidental Mutation 'R3699:Gm8229'

473259

Institutional Source

Beutler Lab

Gene Symbol

Gm8229

Ensembl Gene

ENSMUSG00000090379

Gene Name

predicted gene 8229

Synonyms

MMRRC Submission

040692-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.470) question?

Stock #

R3699 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

44602814-44608298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44603984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 58 (S58T)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000168161
AA Change: S58T

SMART Domains

Protein: ENSMUSP00000132728
Gene: ENSMUSG00000090379
AA Change: S58T

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	5.5e-28	PFAM
coiled coil region	164	186	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Atp1b2	G	A	11: 69,496,095 (GRCm39)	T35I	probably benign	Het
Baz1a	A	G	12: 54,963,831 (GRCm39)	V751A	probably benign	Het
Cdh23	C	A	10: 60,163,149 (GRCm39)		probably null	Het
Chd2	G	T	7: 73,118,238 (GRCm39)	L1127I	probably benign	Het
D7Ertd443e	A	G	7: 133,950,797 (GRCm39)	L292P	probably damaging	Het
Dst	T	C	1: 34,252,155 (GRCm39)		probably benign	Het
Dync2i1	C	T	12: 116,175,462 (GRCm39)	W905*	probably null	Het
Gucy2c	A	T	6: 136,747,109 (GRCm39)	C117S	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl18	A	G	9: 110,265,134 (GRCm39)	Y291H	probably benign	Het
Lamc1	G	T	1: 153,130,951 (GRCm39)	S333R	possibly damaging	Het
Lbr	T	C	1: 181,646,485 (GRCm39)	Y479C	probably damaging	Het
Nampt	T	C	12: 32,898,758 (GRCm39)		probably benign	Het
Or10am5	A	G	7: 6,517,993 (GRCm39)	M145T	probably damaging	Het
Pcnx3	G	T	19: 5,722,493 (GRCm39)	R1400S	probably damaging	Het
Pde4b	C	T	4: 102,458,742 (GRCm39)	A466V	probably damaging	Het
Piezo1	C	T	8: 123,221,642 (GRCm39)	R584H	probably damaging	Het
Polq	C	A	16: 36,862,518 (GRCm39)	S338Y	probably damaging	Het
Pramel26	A	G	4: 143,536,922 (GRCm39)	S470P	probably benign	Het
Rassf8	T	C	6: 145,765,802 (GRCm39)		probably benign	Het
Rere	A	T	4: 150,561,819 (GRCm39)		probably null	Het
Rps6kb1	A	G	11: 86,423,620 (GRCm39)	F120S	probably damaging	Het
Scarf1	G	T	11: 75,405,195 (GRCm39)	C78F	probably damaging	Het
Tepsin	C	T	11: 119,982,579 (GRCm39)	C491Y	possibly damaging	Het
Trpv4	A	G	5: 114,772,861 (GRCm39)	S243P	probably damaging	Het
Whrn	A	T	4: 63,379,649 (GRCm39)		probably benign	Het
Zfp521	G	T	18: 13,979,330 (GRCm39)	S361*	probably null	Het
Zfyve19	A	G	2: 119,041,720 (GRCm39)	T96A	probably benign	Het

Other mutations in Gm8229

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02090:Gm8229	APN	14	44,604,054 (GRCm39)	missense	unknown
IGL02609:Gm8229	APN	14	44,604,082 (GRCm39)	missense	probably benign	0.09
R6444:Gm8229	UTSW	14	44,602,928 (GRCm39)	missense	unknown
R7877:Gm8229	UTSW	14	44,604,033 (GRCm39)	nonsense	probably null
R9207:Gm8229	UTSW	14	44,606,238 (GRCm39)	missense

Predicted Primers

Posted On

2017-04-14