Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02209:Stmn2'

284645

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stmn2

Ensembl Gene

ENSMUSG00000027500

Gene Name

stathmin-like 2

Synonyms

Scgn10, SCG10

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

IGL02209

Quality Score

Status

Chromosome

Chromosomal Location

8574587-8626664 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 8625321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029002]

AlphaFold

P55821

Predicted Effect

probably benign
Transcript: ENSMUST00000029002

SMART Domains

Protein: ENSMUSP00000029002
Gene: ENSMUSG00000027500

Domain	Start	End	E-Value	Type
Pfam:Stathmin	41	174	3.7e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194307

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 36,274,901 (GRCm39)	R82Q	probably damaging	Het
Acmsd	A	G	1: 127,687,492 (GRCm39)	Y258C	probably damaging	Het
Anapc5	A	G	5: 122,938,676 (GRCm39)	I366T	possibly damaging	Het
Crkl	C	T	16: 17,287,098 (GRCm39)	T218I	probably benign	Het
Egf	A	T	3: 129,500,956 (GRCm39)	I213K	possibly damaging	Het
Fry	A	G	5: 150,360,491 (GRCm39)	T33A	probably benign	Het
Garnl3	T	C	2: 32,975,942 (GRCm39)	D93G	probably damaging	Het
Hook3	C	T	8: 26,560,293 (GRCm39)	D311N	probably damaging	Het
Iglv3	T	C	16: 19,060,420 (GRCm39)	T4A	probably benign	Het
Kctd17	A	G	15: 78,319,792 (GRCm39)	N70S	probably damaging	Het
Kmt2d	T	C	15: 98,752,448 (GRCm39)		probably benign	Het
Lrif1	A	C	3: 106,639,045 (GRCm39)	L18F	probably damaging	Het
Mfsd1	A	G	3: 67,505,465 (GRCm39)		probably benign	Het
Msh4	A	G	3: 153,594,499 (GRCm39)	Y101H	probably damaging	Het
Mycbpap	G	A	11: 94,400,708 (GRCm39)		probably benign	Het
Myt1	A	G	2: 181,439,027 (GRCm39)	D183G	probably benign	Het
Nppc	T	C	1: 86,597,387 (GRCm39)	*127W	probably null	Het
Or10al3	G	A	17: 38,011,883 (GRCm39)	M107I	probably damaging	Het
Or1ak2	C	T	2: 36,827,517 (GRCm39)	P129S	probably damaging	Het
Or2n1e	A	G	17: 38,586,123 (GRCm39)	I154V	probably benign	Het
Or51i2	T	G	7: 103,689,663 (GRCm39)	L220R	probably damaging	Het
Or8b3b	T	C	9: 38,584,342 (GRCm39)	K146E	possibly damaging	Het
Pde5a	A	G	3: 122,618,664 (GRCm39)		probably benign	Het
Pkd1l3	T	C	8: 110,365,296 (GRCm39)	V1139A	probably damaging	Het
Pwwp2b	G	A	7: 138,835,021 (GRCm39)	R154Q	probably damaging	Het
Satb2	C	T	1: 56,910,677 (GRCm39)	V264I	probably damaging	Het
Slc6a2	T	A	8: 93,720,688 (GRCm39)	F435Y	probably benign	Het
Synj1	A	G	16: 90,784,307 (GRCm39)	I277T	probably damaging	Het
Trio	C	T	15: 27,744,139 (GRCm39)	A2598T	probably damaging	Het
Tshz2	G	A	2: 169,726,684 (GRCm39)	V427M	probably damaging	Het
Utrn	A	G	10: 12,559,039 (GRCm39)	S1405P	probably damaging	Het
Vmn1r173	G	A	7: 23,402,586 (GRCm39)	V274I	probably benign	Het
Vmn2r116	T	C	17: 23,607,761 (GRCm39)	F443S	probably damaging	Het
Vps13d	C	A	4: 144,882,671 (GRCm39)	R974L	probably damaging	Het
Wapl	T	A	14: 34,399,218 (GRCm39)	S96T	possibly damaging	Het
Zfp516	A	G	18: 83,012,622 (GRCm39)	D1125G	probably benign	Het
Zfp692	C	T	11: 58,204,824 (GRCm39)	R395*	probably null	Het

Other mutations in Stmn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0362:Stmn2	UTSW	3	8,610,750 (GRCm39)	missense	probably damaging	0.99
R1885:Stmn2	UTSW	3	8,606,964 (GRCm39)	missense	probably damaging	1.00
R1927:Stmn2	UTSW	3	8,610,636 (GRCm39)	missense	probably benign	0.00
R2261:Stmn2	UTSW	3	8,606,955 (GRCm39)	missense	probably damaging	0.97
R2262:Stmn2	UTSW	3	8,606,955 (GRCm39)	missense	probably damaging	0.97
R2901:Stmn2	UTSW	3	8,606,981 (GRCm39)	missense	probably benign
R4066:Stmn2	UTSW	3	8,574,668 (GRCm39)	utr 5 prime	probably benign
R4938:Stmn2	UTSW	3	8,610,792 (GRCm39)	missense	probably damaging	1.00
R5191:Stmn2	UTSW	3	8,610,635 (GRCm39)	missense	probably benign
R7670:Stmn2	UTSW	3	8,619,925 (GRCm39)	missense	probably damaging	1.00
R8511:Stmn2	UTSW	3	8,574,615 (GRCm39)	start gained	probably benign

Posted On

2015-04-16