Mutagenetix > Incidental Mutation

Incidental Mutation 'R7136:Stmn1'

553054

Institutional Source

Beutler Lab

Gene Symbol

Stmn1

Ensembl Gene

ENSMUSG00000028832

Gene Name

stathmin 1

Synonyms

Lap18, leukemia associated phosphoprotein p18, prosolin, oncoprotein18, pig, metablastin, p18, p19, 19K, op18, SMN, Lag, PP17, PP18, PR22

MMRRC Submission

045220-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134195631-134201154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134198088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 42 (K42E)

Ref Sequence

ENSEMBL: ENSMUSP00000030636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030636] [ENSMUST00000105867] [ENSMUST00000105868] [ENSMUST00000127279]

AlphaFold

P54227

Predicted Effect

probably damaging
Transcript: ENSMUST00000030636
AA Change: K42E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030636
Gene: ENSMUSG00000028832
AA Change: K42E

Domain	Start	End	E-Value	Type
Pfam:Stathmin	4	143	1.3e-80	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105867
AA Change: K42E

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101493
Gene: ENSMUSG00000028832
AA Change: K42E

Domain	Start	End	E-Value	Type
Pfam:Stathmin	4	141	3e-73	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105868
AA Change: K42E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101494
Gene: ENSMUSG00000028832
AA Change: K42E

Domain	Start	End	E-Value	Type
Pfam:Stathmin	7	140	2.2e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000127279
AA Change: K42E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119547
Gene: ENSMUSG00000028832
AA Change: K42E

Domain	Start	End	E-Value	Type
Pfam:Stathmin	4	102	2.9e-58	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation appear normal as young animals, but develop a late-onset appearance of axonal lesions in the central and peripheral nervous systems. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,560,610 (GRCm39)	S262P	probably damaging	Het
Abcc2	A	G	19: 43,825,899 (GRCm39)	E1512G	probably damaging	Het
Abcg2	T	G	6: 58,661,325 (GRCm39)	Y459D	possibly damaging	Het
Amy1	T	C	3: 113,357,248 (GRCm39)	Y197C	probably damaging	Het
Bptf	A	G	11: 106,990,541 (GRCm39)	I516T	probably damaging	Het
Capn12	T	A	7: 28,582,532 (GRCm39)		probably null	Het
Cbln2	T	A	18: 86,734,797 (GRCm39)	L190Q	probably damaging	Het
Ccdc157	C	T	11: 4,098,592 (GRCm39)	E305K	possibly damaging	Het
Ccdc47	A	G	11: 106,095,830 (GRCm39)	S289P	probably benign	Het
Chd3	C	T	11: 69,239,264 (GRCm39)	E1756K	probably null	Het
Chrd	G	T	16: 20,553,272 (GRCm39)	A183S	possibly damaging	Het
Cp	C	T	3: 20,039,822 (GRCm39)	R880*	probably null	Het
Cyp24a1	A	T	2: 170,336,063 (GRCm39)	D191E	probably benign	Het
Dnah1	T	C	14: 31,020,613 (GRCm39)	Y1252C	probably damaging	Het
Eps8l1	A	G	7: 4,480,403 (GRCm39)	D487G	probably damaging	Het
Fam227b	T	G	2: 125,965,948 (GRCm39)	Q159P	probably damaging	Het
Fat3	A	G	9: 16,289,481 (GRCm39)	I14T	probably benign	Het
Fbxl19	C	A	7: 127,349,217 (GRCm39)	T129N	possibly damaging	Het
Fuca2	T	C	10: 13,381,665 (GRCm39)	F193L	probably benign	Het
H2-Q1	T	C	17: 35,539,603 (GRCm39)		probably null	Het
Hgh1	A	G	15: 76,254,631 (GRCm39)	M336V	probably benign	Het
Il12b	T	C	11: 44,298,857 (GRCm39)	L104P	probably benign	Het
Kcnh2	A	T	5: 24,537,989 (GRCm39)	F125I	probably benign	Het
Kcnk7	A	G	19: 5,756,104 (GRCm39)	H110R	probably benign	Het
Kdm3a	G	A	6: 71,588,764 (GRCm39)	P415L	probably benign	Het
Kifc3	T	C	8: 95,830,077 (GRCm39)	T610A	probably benign	Het
Krbox5	A	G	13: 67,991,111 (GRCm39)		probably null	Het
Lmbr1l	C	A	15: 98,809,372 (GRCm39)		probably null	Het
Lmo7	T	A	14: 102,157,975 (GRCm39)	M1436K	unknown	Het
Lrp1	C	T	10: 127,394,491 (GRCm39)	C2574Y	probably damaging	Het
Med13l	A	G	5: 118,859,587 (GRCm39)	E258G	possibly damaging	Het
Mesp1	T	C	7: 79,442,906 (GRCm39)	I124V	probably damaging	Het
Mrgpra2a	A	T	7: 47,076,934 (GRCm39)	I108N	probably benign	Het
Nos1	G	T	5: 118,033,925 (GRCm39)	R349L	possibly damaging	Het
Or5k3	C	T	16: 58,969,327 (GRCm39)	T38I	probably damaging	Het
Or7c70	T	C	10: 78,683,615 (GRCm39)	I45V	probably benign	Het
Osgin1	T	A	8: 120,168,176 (GRCm39)	M1K	probably null	Het
Pde4dip	C	T	3: 97,601,379 (GRCm39)	S2346N	probably benign	Het
Pde7a	T	C	3: 19,285,258 (GRCm39)	M310V	probably benign	Het
Pigw	G	A	11: 84,768,585 (GRCm39)	T248M	probably damaging	Het
Pink1	T	C	4: 138,044,769 (GRCm39)	T323A	probably damaging	Het
Polr3a	C	T	14: 24,511,883 (GRCm39)	R891Q	probably damaging	Het
Prkar1b	C	A	5: 139,094,363 (GRCm39)	C75F	probably benign	Het
Prss58	C	T	6: 40,876,987 (GRCm39)		probably null	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Pttg1ip2	A	T	5: 5,516,631 (GRCm39)	D63E	possibly damaging	Het
Qars1	T	C	9: 108,389,971 (GRCm39)	I350T	probably damaging	Het
Qprt	T	C	7: 126,707,984 (GRCm39)	K149R	probably damaging	Het
Rasgrf1	T	A	9: 89,873,651 (GRCm39)	D653E	probably damaging	Het
Rbm26	T	C	14: 105,381,703 (GRCm39)	M481V	possibly damaging	Het
Rdx	C	T	9: 51,997,745 (GRCm39)	T573M	probably damaging	Het
Rgs14	A	G	13: 55,527,508 (GRCm39)		probably null	Het
Robo2	T	C	16: 73,753,438 (GRCm39)	E813G	probably damaging	Het
Rrbp1	A	T	2: 143,791,600 (GRCm39)	F1369I	probably benign	Het
Sh2d4b	T	A	14: 40,562,209 (GRCm39)	T319S	probably benign	Het
Slc7a15	G	T	12: 8,588,895 (GRCm39)	N217K	probably damaging	Het
Tbl2	T	G	5: 135,178,682 (GRCm39)	W31G	probably benign	Het
Tmem8b	T	C	4: 43,669,845 (GRCm39)	C114R	possibly damaging	Het
Tsc2	T	C	17: 24,832,254 (GRCm39)	S711G	probably benign	Het
Ttn	T	C	2: 76,666,904 (GRCm39)	R11531G	unknown	Het
Ube2e3	T	C	2: 78,744,085 (GRCm39)	Y105H	probably benign	Het
Usp16	G	T	16: 87,280,059 (GRCm39)	C753F	probably benign	Het
Vmn1r13	T	C	6: 57,187,239 (GRCm39)	S133P	possibly damaging	Het
Vmn2r76	T	A	7: 85,877,975 (GRCm39)	Q474L	probably benign	Het
Vps52	T	C	17: 34,184,262 (GRCm39)	I601T	probably benign	Het
Wasf1	A	T	10: 40,802,587 (GRCm39)	T81S	possibly damaging	Het
Wdr82	A	G	9: 106,048,532 (GRCm39)	S39G	probably benign	Het
Zdhhc13	A	G	7: 48,451,080 (GRCm39)	I108V	probably benign	Het

Other mutations in Stmn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02230:Stmn1	APN	4	134,200,224 (GRCm39)	missense	probably damaging	1.00
Milk	UTSW	4	134,198,125 (GRCm39)	missense	probably damaging	1.00
R4836:Stmn1	UTSW	4	134,197,495 (GRCm39)	splice site	probably benign
R6790:Stmn1	UTSW	4	134,198,125 (GRCm39)	missense	probably damaging	1.00
R9395:Stmn1	UTSW	4	134,200,146 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCAAGATGGTATTTGTTAGTCC -3'
(R):5'- TGAACCTCTGGCACAAGGAC -3'

Sequencing Primer
(F):5'- ACTACAAACACCTTCATTAGCTTTC -3'
(R):5'- TCTGGCACAAGGACATTTCC -3'

Posted On

2019-05-15