Mutagenetix > Incidental Mutation

Incidental Mutation 'R4938:Stmn2'

382824

Institutional Source

Beutler Lab

Gene Symbol

Stmn2

Ensembl Gene

ENSMUSG00000027500

Gene Name

stathmin-like 2

Synonyms

Scgn10, SCG10

MMRRC Submission

042537-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R4938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8574587-8626664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8610792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 92 (E92G)

Ref Sequence

ENSEMBL: ENSMUSP00000029002 (fasta)

Gene Model

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

AlphaFold

P55821

Predicted Effect

probably damaging
Transcript: ENSMUST00000029002
AA Change: E92G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029002
Gene: ENSMUSG00000027500
AA Change: E92G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194905

Meta Mutation Damage Score

0.2182

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

99% (74/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl14ep	G	T	2: 106,799,663 (GRCm39)	H59Q	probably damaging	Het
Atp6v0a4	T	A	6: 38,055,749 (GRCm39)	I321F	possibly damaging	Het
Cdr2l	A	G	11: 115,284,651 (GRCm39)	D329G	possibly damaging	Het
Cep55	A	G	19: 38,058,364 (GRCm39)	E319G	probably damaging	Het
Cfhr2	C	T	1: 139,741,265 (GRCm39)	V237I	probably benign	Het
Clasrp	A	G	7: 19,318,703 (GRCm39)		probably null	Het
Col12a1	C	A	9: 79,607,632 (GRCm39)	E399*	probably null	Het
Cyp19a1	T	A	9: 54,080,647 (GRCm39)	I237F	probably benign	Het
Dnajc6	T	G	4: 101,494,010 (GRCm39)	N847K	probably damaging	Het
E330013P04Rik	C	G	19: 60,150,453 (GRCm39)		noncoding transcript	Het
Entpd2	A	G	2: 25,289,429 (GRCm39)	T304A	probably benign	Het
Etl4	A	G	2: 20,803,460 (GRCm39)	T779A	probably benign	Het
Fam107b	A	T	2: 3,773,907 (GRCm39)	I35L	probably benign	Het
Fgg	A	T	3: 82,920,175 (GRCm39)	Y318F	probably benign	Het
Fitm1	A	C	14: 55,814,076 (GRCm39)	T191P	probably damaging	Het
Fras1	A	G	5: 96,924,583 (GRCm39)	M3675V	probably damaging	Het
Fry	C	T	5: 150,401,454 (GRCm39)	R731W	probably damaging	Het
Galnt17	A	T	5: 131,335,237 (GRCm39)	S68T	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Grm1	C	T	10: 10,812,257 (GRCm39)	A256T	probably damaging	Het
Hoxd13	A	G	2: 74,499,027 (GRCm39)	Y125C	probably benign	Het
Hspa14	A	T	2: 3,492,646 (GRCm39)	I373K	probably benign	Het
Ifnlr1	A	G	4: 135,432,593 (GRCm39)	E343G	probably benign	Het
Ighv5-9	A	G	12: 113,625,582 (GRCm39)	S54P	probably benign	Het
Insyn2b	G	A	11: 34,352,231 (GRCm39)	G91E	probably damaging	Het
Irf2bpl	A	G	12: 86,928,892 (GRCm39)	S594P	possibly damaging	Het
Kcnq2	A	G	2: 180,728,766 (GRCm39)	S548P	probably damaging	Het
Lrp2	G	A	2: 69,302,712 (GRCm39)	R3006W	probably damaging	Het
Lrrc4c	A	T	2: 97,459,646 (GRCm39)	I91F	probably damaging	Het
Mdh1b	T	C	1: 63,750,663 (GRCm39)	D435G	probably benign	Het
Mettl3	A	T	14: 52,537,184 (GRCm39)	S182T	probably damaging	Het
Mllt6	A	G	11: 97,569,233 (GRCm39)	T862A	probably benign	Het
Mmp27	G	T	9: 7,578,983 (GRCm39)	R412I	probably damaging	Het
Mstn	A	G	1: 53,105,582 (GRCm39)	N308S	possibly damaging	Het
Ncapg	A	G	5: 45,828,551 (GRCm39)	T101A	probably benign	Het
Ngf	C	T	3: 102,427,790 (GRCm39)	R180W	probably damaging	Het
Notch1	G	A	2: 26,364,136 (GRCm39)	Q862*	probably null	Het
Nsrp1	T	C	11: 76,936,570 (GRCm39)	D542G	probably damaging	Het
Nup214	C	A	2: 31,873,171 (GRCm39)	T255K	probably benign	Het
Or5b21	T	A	19: 12,839,916 (GRCm39)	M259K	probably damaging	Het
Or8b43	T	A	9: 38,360,679 (GRCm39)	D170E	probably benign	Het
Papln	C	T	12: 83,829,677 (GRCm39)	P911S	probably benign	Het
Pdxdc1	A	G	16: 13,693,933 (GRCm39)	V163A	probably benign	Het
Plekhj1	A	T	10: 80,633,609 (GRCm39)	I76N	probably damaging	Het
Pnp2	A	G	14: 51,201,025 (GRCm39)		probably null	Het
Polr3gl	T	C	3: 96,487,208 (GRCm39)	E89G	probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Prss37	A	G	6: 40,491,917 (GRCm39)	I221T	possibly damaging	Het
Ptx4	C	T	17: 25,342,139 (GRCm39)	Q205*	probably null	Het
Qsox1	T	C	1: 155,655,414 (GRCm39)	E583G	probably benign	Het
Riok3	T	A	18: 12,288,300 (GRCm39)	N492K	probably benign	Het
Sec13	A	G	6: 113,712,153 (GRCm39)	W61R	probably damaging	Het
Slc20a2	T	C	8: 23,051,221 (GRCm39)	V418A	possibly damaging	Het
Smad9	G	A	3: 54,696,651 (GRCm39)	V239I	probably benign	Het
Taf1c	A	G	8: 120,325,537 (GRCm39)	V775A	probably benign	Het
Thsd7a	T	A	6: 12,330,991 (GRCm39)	I1384L	probably benign	Het
Tnxb	A	G	17: 34,932,606 (GRCm39)	Y2275C	probably damaging	Het
Trmo	G	T	4: 46,382,388 (GRCm39)	T243N	probably benign	Het
Tyrp1	C	T	4: 80,758,883 (GRCm39)	A252V	probably damaging	Het
Vasp	T	C	7: 18,991,642 (GRCm39)	*376W	probably null	Het
Vmn1r231	T	C	17: 21,110,613 (GRCm39)	I101V	possibly damaging	Het
Zfp532	T	C	18: 65,756,837 (GRCm39)	S257P	probably benign	Het
Zfp563	G	A	17: 33,324,683 (GRCm39)	C426Y	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,795,244 (GRCm39)		probably null	Het
Zfp703	C	A	8: 27,469,801 (GRCm39)	H488Q	probably damaging	Het
Zfp964	A	G	8: 70,116,758 (GRCm39)	N452D	possibly damaging	Het
Zfyve28	A	C	5: 34,390,698 (GRCm39)	Y188D	probably damaging	Het

Other mutations in Stmn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02209:Stmn2	APN	3	8,625,321 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGTTCCTTCCACAGACATG -3'
(R):5'- AGGCTCACTCAGGTACCATTG -3'

Sequencing Primer
(F):5'- TCCACAGACATGGAGGTGAAGC -3'
(R):5'- AAACCTGTGACTTTGAGGCC -3'

Posted On

2016-04-27