Mutagenetix > Incidental Mutation

Incidental Mutation 'R8346:Stmnd1'

645250

Institutional Source

Beutler Lab

Gene Symbol

Stmnd1

Ensembl Gene

ENSMUSG00000063529

Gene Name

stathmin domain containing 1

Synonyms

Gm1574, LOC380842

MMRRC Submission

067802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8346 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46427197-46453591 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46452936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 204 (N204S)

Ref Sequence

ENSEMBL: ENSMUSP00000075923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076622]

AlphaFold

Q6P3A1

Predicted Effect

probably benign
Transcript: ENSMUST00000076622
AA Change: N204S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000075923
Gene: ENSMUSG00000063529
AA Change: N204S

Domain	Start	End	E-Value	Type
Pfam:Stathmin	128	199	4.5e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	G	14: 59,380,221 (GRCm39)	S26P	probably damaging	Het
Aco1	T	A	4: 40,177,876 (GRCm39)	M299K	probably damaging	Het
Acox1	G	T	11: 116,069,099 (GRCm39)	T382N	possibly damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
App	G	T	16: 84,900,145 (GRCm39)	R102S	unknown	Het
Chd1l	T	C	3: 97,469,959 (GRCm39)	N856D	probably benign	Het
Col11a1	A	G	3: 114,005,818 (GRCm39)	D1650G	unknown	Het
Cx3cl1	T	C	8: 95,507,168 (GRCm39)	V391A	probably damaging	Het
Cyp11b2	T	C	15: 74,723,617 (GRCm39)	Y378C	probably damaging	Het
Cyp26b1	T	C	6: 84,554,150 (GRCm39)	S156G	probably benign	Het
Cyp3a11	C	T	5: 145,795,612 (GRCm39)	M446I	probably damaging	Het
D7Ertd443e	G	A	7: 133,950,485 (GRCm39)	T396I	possibly damaging	Het
Dusp4	C	A	8: 35,275,092 (GRCm39)	N70K	possibly damaging	Het
Dync1h1	G	A	12: 110,632,226 (GRCm39)	A4499T	probably benign	Het
Eno2	T	C	6: 124,740,758 (GRCm39)	D266G	possibly damaging	Het
Eomes	T	C	9: 118,314,036 (GRCm39)	S694P	probably benign	Het
Fmo4	A	G	1: 162,621,792 (GRCm39)	V473A	probably benign	Het
Fmo5	T	A	3: 97,552,962 (GRCm39)	N303K	probably damaging	Het
Garin1b	G	A	6: 29,334,030 (GRCm39)	C296Y	probably damaging	Het
Gdf10	A	G	14: 33,653,802 (GRCm39)	E103G	probably benign	Het
Gjb6	T	C	14: 57,362,259 (GRCm39)	M1V	probably null	Het
Gm17067	A	G	7: 42,358,073 (GRCm39)	L143P	probably damaging	Het
Helz	A	G	11: 107,563,399 (GRCm39)	D1613G	unknown	Het
Hmgn3	T	C	9: 82,993,159 (GRCm39)	K50E	probably damaging	Het
Hoxc11	G	A	15: 102,863,186 (GRCm39)	G76S	possibly damaging	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Ighv2-2	A	T	12: 113,552,189 (GRCm39)	C16*	probably null	Het
Kidins220	T	G	12: 25,086,533 (GRCm39)	F989C	probably damaging	Het
Krtap28-13	A	G	1: 83,039,086 (GRCm39)	K124E	unknown	Het
Mast4	A	G	13: 102,887,986 (GRCm39)	V1141A	probably damaging	Het
Myb	A	T	10: 21,002,136 (GRCm39)	M735K	probably benign	Het
Myo3a	T	A	2: 22,448,434 (GRCm39)		probably null	Het
Naa60	G	A	16: 3,718,507 (GRCm39)	G113D	probably damaging	Het
Nfatc1	T	C	18: 80,725,382 (GRCm39)	I461V	probably benign	Het
Nphp4	C	A	4: 152,645,778 (GRCm39)	A1262D	probably damaging	Het
Obscn	A	T	11: 58,976,007 (GRCm39)	V2040E	possibly damaging	Het
Or1j4	A	G	2: 36,740,351 (GRCm39)	I98V	probably benign	Het
Or9a2	A	G	6: 41,749,057 (GRCm39)	Y59H	probably damaging	Het
Ormdl1	T	A	1: 53,344,626 (GRCm39)	F63I	possibly damaging	Het
Otulinl	A	G	15: 27,664,644 (GRCm39)	Y76H	probably damaging	Het
Phc1	C	T	6: 122,302,774 (GRCm39)	V250M	probably damaging	Het
Pik3c2b	G	A	1: 133,017,984 (GRCm39)	V949M	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prmt8	T	A	6: 127,688,810 (GRCm39)	M187L	probably damaging	Het
Ptpn3	T	C	4: 57,225,547 (GRCm39)	I513V	probably damaging	Het
Rad17	A	C	13: 100,781,681 (GRCm39)	S39A	possibly damaging	Het
Rbck1	T	C	2: 152,160,700 (GRCm39)	Y412C	probably damaging	Het
Rfc3	C	A	5: 151,569,100 (GRCm39)	M152I	probably damaging	Het
Scn11a	C	A	9: 119,608,047 (GRCm39)	C1028F	probably damaging	Het
Sfmbt2	C	A	2: 10,466,236 (GRCm39)	P357Q	probably damaging	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Tdrd1	T	C	19: 56,830,699 (GRCm39)	V244A	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r25	T	C	6: 123,802,350 (GRCm39)	T518A	probably benign	Het
Xdh	T	C	17: 74,220,938 (GRCm39)	D597G	probably damaging	Het
Zfp457	G	A	13: 67,441,862 (GRCm39)	Q238*	probably null	Het
Zfp647	T	C	15: 76,795,928 (GRCm39)	D244G	probably damaging	Het
Zfp870	T	A	17: 33,102,843 (GRCm39)	E162V	possibly damaging	Het

Other mutations in Stmnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Stmnd1	APN	13	46,453,157 (GRCm39)	missense	probably benign	0.39
IGL01871:Stmnd1	APN	13	46,443,189 (GRCm39)	missense	probably damaging	1.00
IGL02369:Stmnd1	APN	13	46,439,029 (GRCm39)	missense	probably benign	0.25
R0117:Stmnd1	UTSW	13	46,438,962 (GRCm39)	missense	possibly damaging	0.56
R1674:Stmnd1	UTSW	13	46,453,097 (GRCm39)	missense	possibly damaging	0.54
R5127:Stmnd1	UTSW	13	46,453,071 (GRCm39)	missense	probably benign	0.04
R5290:Stmnd1	UTSW	13	46,453,074 (GRCm39)	missense	probably benign	0.44
R6924:Stmnd1	UTSW	13	46,452,969 (GRCm39)	missense	probably benign
R6957:Stmnd1	UTSW	13	46,427,375 (GRCm39)	missense	probably benign	0.09
R7745:Stmnd1	UTSW	13	46,453,077 (GRCm39)	missense	possibly damaging	0.52
R9026:Stmnd1	UTSW	13	46,452,983 (GRCm39)	missense	probably benign
R9339:Stmnd1	UTSW	13	46,453,079 (GRCm39)	missense	probably benign	0.00
R9696:Stmnd1	UTSW	13	46,443,224 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCGGATGTTTGTCTCTTTC -3'
(R):5'- TACATGTCTGACTCCACAAGC -3'

Sequencing Primer
(F):5'- CCGGATGTTTGTCTCTTTCGACATG -3'
(R):5'- GTCTGACTCCACAAGCTCCAAAC -3'

Posted On

2020-09-02