Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01467:Gm9839'

88124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm9839

Ensembl Gene

ENSMUSG00000102865

Gene Name

predicted gene 9839

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

IGL01467

Quality Score

Status

Chromosome

Chromosomal Location

32558644-32560080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32559032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 350 (I350N)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027226]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027226

SMART Domains

Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
KH	58	156	4.93e-7	SMART
low complexity region	185	197	N/A	INTRINSIC
low complexity region	204	231	N/A	INTRINSIC
Pfam:Sam68-YY	267	321	1.3e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000050429
AA Change: I350N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085635
Gene: ENSMUSG00000049830
AA Change: I350N

Domain	Start	End	E-Value	Type
low complexity region	137	150	N/A	INTRINSIC
Pfam:Peptidase_C48	298	477	1.1e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195252

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	A	G	5: 121,657,791 (GRCm39)	C501R	probably damaging	Het
Atxn1	C	T	13: 45,720,669 (GRCm39)	V409I	probably damaging	Het
Cdkn2aip	T	C	8: 48,164,247 (GRCm39)	R489G	probably damaging	Het
Cgn	A	G	3: 94,686,898 (GRCm39)	S135P	probably damaging	Het
Cpne3	C	A	4: 19,553,737 (GRCm39)	C98F	probably benign	Het
Cyp2c23	T	C	19: 44,003,512 (GRCm39)	N221S	possibly damaging	Het
Dnah8	A	G	17: 30,998,890 (GRCm39)	N3525S	probably damaging	Het
Efr3b	T	C	12: 4,019,597 (GRCm39)	E560G	probably damaging	Het
Eif2b5	C	A	16: 20,327,714 (GRCm39)	C154*	probably null	Het
Eps8l2	A	G	7: 140,941,514 (GRCm39)	E595G	probably damaging	Het
Hdlbp	A	T	1: 93,345,420 (GRCm39)		probably benign	Het
Il18rap	A	T	1: 40,587,799 (GRCm39)	I466F	probably damaging	Het
Itpr1	T	A	6: 108,465,457 (GRCm39)	I2123N	probably damaging	Het
Jakmip2	A	G	18: 43,715,352 (GRCm39)	I58T	probably benign	Het
Kdm2a	A	G	19: 4,374,435 (GRCm39)	S899P	probably damaging	Het
Mmp15	T	A	8: 96,092,959 (GRCm39)	F113I	probably benign	Het
Neb	T	C	2: 52,049,499 (GRCm39)	H6448R	possibly damaging	Het
Or1j12	C	T	2: 36,342,656 (GRCm39)	R20*	probably null	Het
Or2m13	T	C	16: 19,226,539 (GRCm39)	T77A	probably benign	Het
Pdgfc	A	G	3: 81,116,398 (GRCm39)	T251A	probably damaging	Het
Pdgfra	T	C	5: 75,346,292 (GRCm39)		probably null	Het
Pdpk1	A	G	17: 24,307,144 (GRCm39)	S269P	probably damaging	Het
Pip4k2c	A	T	10: 127,035,498 (GRCm39)	F347L	probably benign	Het
Platr26	T	C	2: 71,553,656 (GRCm39)		noncoding transcript	Het
Pnisr	C	T	4: 21,874,650 (GRCm39)		probably benign	Het
Psma5-ps	A	G	10: 85,149,986 (GRCm39)		noncoding transcript	Het
Rab3gap1	T	A	1: 127,858,121 (GRCm39)		probably null	Het
Scn10a	C	T	9: 119,487,478 (GRCm39)	V619I	probably benign	Het
Slc38a11	T	A	2: 65,147,200 (GRCm39)	T426S	probably benign	Het
Son	T	C	16: 91,454,165 (GRCm39)	S971P	possibly damaging	Het
Stk33	T	A	7: 108,928,796 (GRCm39)	I239L	probably damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tmem270	G	T	5: 134,930,815 (GRCm39)		probably benign	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Zfp750	A	T	11: 121,403,767 (GRCm39)	C369*	probably null	Het

Other mutations in Gm9839

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Gm9839	APN	1	32,559,917 (GRCm39)	missense	possibly damaging	0.85
IGL01118:Gm9839	APN	1	32,558,924 (GRCm39)	missense	probably benign	0.15
IGL02422:Gm9839	APN	1	32,558,943 (GRCm39)	intron	probably benign
IGL02450:Gm9839	APN	1	32,559,964 (GRCm39)	intron	probably benign
R1467:Gm9839	UTSW	1	32,559,594 (GRCm39)	nonsense	probably null

Posted On

2013-11-18