Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02609:Gm8229'

300394

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm8229

Ensembl Gene

ENSMUSG00000090379

Gene Name

predicted gene 8229

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02609

Quality Score

Status

Chromosome

Chromosomal Location

44602814-44608298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 44604082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 90 (E90D)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000168161
AA Change: E90D

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000132728
Gene: ENSMUSG00000090379
AA Change: E90D

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,381,854 (GRCm39)		probably benign	Het
Aadacl4fm5	T	A	4: 144,506,307 (GRCm39)	D128V	probably damaging	Het
Adcy10	T	G	1: 165,366,044 (GRCm39)	Y520*	probably null	Het
Agrn	A	T	4: 156,259,680 (GRCm39)		probably benign	Het
AI661453	A	T	17: 47,779,297 (GRCm39)		probably benign	Het
Arhgap6	A	G	X: 167,961,062 (GRCm39)		probably benign	Het
Asxl2	T	C	12: 3,550,018 (GRCm39)	S587P	probably damaging	Het
B3gntl1	A	G	11: 121,535,427 (GRCm39)		probably benign	Het
Bahcc1	T	C	11: 120,180,224 (GRCm39)	F2527L	possibly damaging	Het
Baz2b	T	A	2: 59,747,713 (GRCm39)	M1317L	possibly damaging	Het
Bcas3	A	T	11: 85,348,720 (GRCm39)	K204I	probably damaging	Het
Bpnt2	T	A	4: 4,767,763 (GRCm39)	R338*	probably null	Het
C1qtnf1	T	C	11: 118,338,830 (GRCm39)	F167L	probably damaging	Het
Cfap58	C	T	19: 47,963,941 (GRCm39)	T523M	possibly damaging	Het
Ddb1	T	A	19: 10,599,830 (GRCm39)	C680S	possibly damaging	Het
Eef1d	T	C	15: 75,768,162 (GRCm39)	Q200R	probably null	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gm28557	T	A	13: 67,219,083 (GRCm39)	K214*	probably null	Het
Hhla1	T	C	15: 65,802,463 (GRCm39)		probably benign	Het
Hivep1	C	T	13: 42,309,130 (GRCm39)	H457Y	probably damaging	Het
Htr2c	T	C	X: 145,976,756 (GRCm39)		probably benign	Het
Ifi44	A	T	3: 151,438,134 (GRCm39)	S384R	probably damaging	Het
Kirrel2	T	C	7: 30,147,765 (GRCm39)	T628A	probably benign	Het
Kmt2d	T	C	15: 98,749,674 (GRCm39)		probably benign	Het
Larp4b	T	A	13: 9,220,716 (GRCm39)	I655N	probably damaging	Het
Lrrd1	G	A	5: 3,908,803 (GRCm39)	V692I	probably benign	Het
Lypd8l	A	T	11: 58,503,442 (GRCm39)	C29S	probably damaging	Het
Nes	T	C	3: 87,884,528 (GRCm39)	I929T	probably benign	Het
Ogfr	T	C	2: 180,234,308 (GRCm39)		probably benign	Het
Pwwp3a	A	T	10: 80,065,917 (GRCm39)	E57V	probably damaging	Het
Rfx2	G	T	17: 57,112,404 (GRCm39)	P43Q	probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Sh3tc1	T	C	5: 35,864,516 (GRCm39)	K495R	probably damaging	Het
Slit1	A	T	19: 41,590,743 (GRCm39)	C1310S	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stk35	T	C	2: 129,643,721 (GRCm39)	V235A	probably damaging	Het
Syde2	T	G	3: 145,704,275 (GRCm39)	V142G	probably benign	Het
Tgfb3	A	G	12: 86,124,613 (GRCm39)	F32L	probably benign	Het
Tmem35a	T	C	X: 133,205,446 (GRCm39)	F121L	probably damaging	Het
Trp53bp2	T	A	1: 182,281,289 (GRCm39)	D963E	probably benign	Het
Vmn1r26	A	G	6: 57,985,860 (GRCm39)	S110P	probably damaging	Het
Vpreb1b	T	C	16: 17,798,558 (GRCm39)		probably benign	Het
Xrn2	A	T	2: 146,891,945 (GRCm39)	T721S	probably benign	Het

Other mutations in Gm8229

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02090:Gm8229	APN	14	44,604,054 (GRCm39)	missense	unknown
R3699:Gm8229	UTSW	14	44,603,984 (GRCm39)	missense	unknown
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

Posted On

2015-04-16