Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02704:Gm5269'

304258

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5269

Ensembl Gene

ENSMUSG00000098549

Gene Name

predicted gene 5269

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02704

Quality Score

Status

Chromosome

Chromosomal Location

45928685-45929433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45929235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2 (T2A)

Ref Sequence

ENSEMBL: ENSMUSP00000139129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000183590]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000183590
AA Change: T2A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184038

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	G	T	2: 93,673,271 (GRCm39)	P162Q	probably damaging	Het
Alb	A	G	5: 90,616,368 (GRCm39)	N291S	possibly damaging	Het
Ankar	T	C	1: 72,691,502 (GRCm39)	D935G	possibly damaging	Het
Atp13a5	A	T	16: 29,070,080 (GRCm39)	C935*	probably null	Het
Bivm	A	T	1: 44,165,606 (GRCm39)	T19S	probably benign	Het
Ddah2	C	A	17: 35,279,983 (GRCm39)	D158E	possibly damaging	Het
Dnah7b	C	T	1: 46,181,293 (GRCm39)	T1060I	probably benign	Het
Efhb	T	C	17: 53,733,297 (GRCm39)	T525A	probably damaging	Het
Exoc3	A	G	13: 74,322,263 (GRCm39)	M604T	probably benign	Het
Frmpd1	T	G	4: 45,285,082 (GRCm39)	I1301S	possibly damaging	Het
Hif3a	T	A	7: 16,784,686 (GRCm39)		probably benign	Het
Hpgds	A	T	6: 65,100,621 (GRCm39)	L119*	probably null	Het
Iars1	A	G	13: 49,874,576 (GRCm39)	D750G	probably damaging	Het
Ift43	T	A	12: 86,207,951 (GRCm39)	D106E	probably benign	Het
Iqub	T	A	6: 24,505,909 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,368,466 (GRCm39)	K1199E	probably benign	Het
Mast3	T	A	8: 71,239,519 (GRCm39)	I395F	probably damaging	Het
Megf8	T	C	7: 25,059,207 (GRCm39)	S2236P	probably damaging	Het
Met	T	A	6: 17,491,256 (GRCm39)	V6E	possibly damaging	Het
Muc5ac	A	T	7: 141,349,000 (GRCm39)	T479S	possibly damaging	Het
Myo7b	T	C	18: 32,100,014 (GRCm39)	T1623A	probably benign	Het
Neto1	T	C	18: 86,491,948 (GRCm39)	L283P	probably damaging	Het
Onecut1	A	G	9: 74,770,312 (GRCm39)	N245S	probably damaging	Het
Or2t6	T	C	14: 14,175,483 (GRCm38)	I200V	probably benign	Het
Or4k41	A	T	2: 111,279,492 (GRCm39)	E2D	probably benign	Het
Or8b52	G	A	9: 38,577,063 (GRCm39)	P26S	possibly damaging	Het
Or8g34	T	C	9: 39,373,579 (GRCm39)	V284A	probably damaging	Het
Or8i2	T	C	2: 86,852,621 (GRCm39)	Q89R	probably benign	Het
Pkd1l1	A	G	11: 8,784,910 (GRCm39)	V1958A	probably benign	Het
Plb1	C	T	5: 32,511,011 (GRCm39)	A1292V	probably benign	Het
Plekha5	A	G	6: 140,489,592 (GRCm39)	E223G	probably damaging	Het
Pou1f1	A	T	16: 65,326,685 (GRCm39)	Q121L	possibly damaging	Het
Rbm25	G	A	12: 83,689,500 (GRCm39)	G47D	probably damaging	Het
Rif1	T	A	2: 51,983,588 (GRCm39)	M577K	probably damaging	Het
Scn8a	A	G	15: 100,905,943 (GRCm39)	E712G	possibly damaging	Het
Snx24	A	G	18: 53,460,509 (GRCm39)	N29S	probably benign	Het
Tmem217	A	T	17: 29,745,532 (GRCm39)	V66D	probably damaging	Het
Ttn	T	G	2: 76,597,985 (GRCm39)	N19643H	probably damaging	Het
Uimc1	T	C	13: 55,178,772 (GRCm39)	T646A	probably benign	Het

Posted On

2015-04-16