Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03221:Scin'

413657

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scin

Ensembl Gene

ENSMUSG00000002565

Gene Name

scinderin

Synonyms

adseverin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03221

Quality Score

Status

Chromosome

Chromosomal Location

40109768-40184227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40126973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 458 (V458A)

Ref Sequence

ENSEMBL: ENSMUSP00000077573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002640] [ENSMUST00000078481]

AlphaFold

Q60604

Predicted Effect

probably benign
Transcript: ENSMUST00000002640
AA Change: V458A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: V458A

Domain	Start	End	E-Value	Type
GEL	17	114	3.44e-26	SMART
GEL	135	227	3.92e-30	SMART
low complexity region	232	242	N/A	INTRINSIC
GEL	252	347	6.56e-32	SMART
GEL	396	489	7.72e-29	SMART
GEL	510	596	2.33e-23	SMART
GEL	615	710	2.07e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078481
AA Change: V458A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565
AA Change: V458A

Domain	Start	End	E-Value	Type
GEL	17	114	3.44e-26	SMART
GEL	135	227	3.92e-30	SMART
low complexity region	232	242	N/A	INTRINSIC
GEL	252	347	6.56e-32	SMART
GEL	396	489	7.72e-29	SMART
GEL	510	610	1.09e-28	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010]
PHENOTYPE: Mice homozygous for a conditional allele knocked-out in osteoclasts exhibit impaired osteoclast differentiation and reduced peridontal disease-mediated bone loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b2	C	T	6: 113,737,820 (GRCm39)		probably benign	Het
BC051665	T	A	13: 60,932,242 (GRCm39)	K116*	probably null	Het
Birc6	A	T	17: 74,934,002 (GRCm39)	T2538S	probably benign	Het
Btn2a2	A	G	13: 23,662,619 (GRCm39)	S435P	probably damaging	Het
Efhb	A	G	17: 53,706,014 (GRCm39)	L841P	probably damaging	Het
Etv4	C	T	11: 101,664,988 (GRCm39)	R155K	probably damaging	Het
Fnbp4	T	A	2: 90,608,062 (GRCm39)	M928K	possibly damaging	Het
Grin2c	A	G	11: 115,144,870 (GRCm39)		probably benign	Het
Grip1	A	T	10: 119,822,299 (GRCm39)	M342L	probably benign	Het
H60c	T	A	10: 3,209,799 (GRCm39)	K163*	probably null	Het
Hycc2	C	A	1: 58,579,345 (GRCm39)	V231L	probably benign	Het
Lilrb4b	A	G	10: 51,357,524 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mast4	A	G	13: 102,890,764 (GRCm39)	V838A	possibly damaging	Het
Mypn	C	A	10: 62,966,902 (GRCm39)	D925Y	probably damaging	Het
Nol6	T	C	4: 41,124,166 (GRCm39)	D27G	probably benign	Het
Or4c105	T	C	2: 88,647,781 (GRCm39)	S89P	possibly damaging	Het
Or5b97	G	T	19: 12,878,905 (GRCm39)	P80T	probably damaging	Het
Or8b51	A	T	9: 38,569,661 (GRCm39)	V9E	probably damaging	Het
Pik3c2g	A	G	6: 139,718,133 (GRCm39)		probably null	Het
Pik3c3	G	T	18: 30,435,984 (GRCm39)	M394I	probably benign	Het
Rfx7	C	T	9: 72,526,088 (GRCm39)	R1093C	probably damaging	Het
Slc34a1	T	C	13: 55,548,591 (GRCm39)	V39A	probably benign	Het
Slc6a4	A	G	11: 76,917,931 (GRCm39)	M558V	probably benign	Het
Smpx	T	C	X: 156,503,994 (GRCm39)	V65A	probably damaging	Het
Tmem200a	A	T	10: 25,869,922 (GRCm39)	F116I	possibly damaging	Het
Tnfrsf19	A	T	14: 61,262,227 (GRCm39)	V12E	probably benign	Het
Trpc1	C	T	9: 95,588,953 (GRCm39)	R757H	probably damaging	Het
Ttc38	T	A	15: 85,718,742 (GRCm39)	S51T	probably benign	Het
Wee1	G	A	7: 109,726,024 (GRCm39)	C378Y	probably damaging	Het

Other mutations in Scin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Scin	APN	12	40,126,971 (GRCm39)	missense	probably benign	0.03
IGL01414:Scin	APN	12	40,174,698 (GRCm39)	missense	probably damaging	1.00
IGL01790:Scin	APN	12	40,113,256 (GRCm39)	missense	probably benign	0.02
IGL01807:Scin	APN	12	40,134,288 (GRCm39)	missense	probably damaging	1.00
IGL01946:Scin	APN	12	40,110,490 (GRCm39)	utr 3 prime	probably benign
IGL02040:Scin	APN	12	40,119,452 (GRCm39)	intron	probably benign
IGL02391:Scin	APN	12	40,127,530 (GRCm39)	missense	probably benign	0.05
I1329:Scin	UTSW	12	40,123,329 (GRCm39)	missense	probably damaging	0.99
PIT4498001:Scin	UTSW	12	40,119,446 (GRCm39)	critical splice acceptor site	probably null
R0108:Scin	UTSW	12	40,177,986 (GRCm39)	missense	possibly damaging	0.68
R0470:Scin	UTSW	12	40,123,291 (GRCm39)	splice site	probably benign
R0477:Scin	UTSW	12	40,110,515 (GRCm39)	missense	probably damaging	1.00
R0538:Scin	UTSW	12	40,131,770 (GRCm39)	missense	probably damaging	0.98
R0539:Scin	UTSW	12	40,131,765 (GRCm39)	missense	possibly damaging	0.65
R0591:Scin	UTSW	12	40,130,929 (GRCm39)	critical splice donor site	probably null
R0668:Scin	UTSW	12	40,130,948 (GRCm39)	missense	probably damaging	1.00
R0718:Scin	UTSW	12	40,129,606 (GRCm39)	missense	probably damaging	1.00
R1473:Scin	UTSW	12	40,127,501 (GRCm39)	missense	probably benign
R1566:Scin	UTSW	12	40,131,673 (GRCm39)	missense	probably benign	0.17
R1570:Scin	UTSW	12	40,134,380 (GRCm39)	splice site	probably benign
R1624:Scin	UTSW	12	40,177,929 (GRCm39)	missense	probably benign
R1827:Scin	UTSW	12	40,118,922 (GRCm39)	missense	possibly damaging	0.88
R1836:Scin	UTSW	12	40,174,697 (GRCm39)	missense	probably damaging	1.00
R1985:Scin	UTSW	12	40,183,907 (GRCm39)	critical splice donor site	probably null
R2042:Scin	UTSW	12	40,127,509 (GRCm39)	missense	possibly damaging	0.96
R2061:Scin	UTSW	12	40,130,947 (GRCm39)	missense	probably damaging	1.00
R2147:Scin	UTSW	12	40,130,984 (GRCm39)	missense	probably benign	0.00
R2232:Scin	UTSW	12	40,118,930 (GRCm39)	missense	probably damaging	1.00
R2504:Scin	UTSW	12	40,131,705 (GRCm39)	missense	probably benign	0.02
R4781:Scin	UTSW	12	40,131,763 (GRCm39)	missense	possibly damaging	0.59
R4898:Scin	UTSW	12	40,154,931 (GRCm39)	missense	probably benign
R4914:Scin	UTSW	12	40,119,373 (GRCm39)	missense	possibly damaging	0.79
R4915:Scin	UTSW	12	40,119,373 (GRCm39)	missense	possibly damaging	0.79
R4916:Scin	UTSW	12	40,119,373 (GRCm39)	missense	possibly damaging	0.79
R4917:Scin	UTSW	12	40,119,373 (GRCm39)	missense	possibly damaging	0.79
R4918:Scin	UTSW	12	40,119,373 (GRCm39)	missense	possibly damaging	0.79
R5068:Scin	UTSW	12	40,174,699 (GRCm39)	missense	probably damaging	1.00
R5098:Scin	UTSW	12	40,127,541 (GRCm39)	nonsense	probably null
R5233:Scin	UTSW	12	40,127,558 (GRCm39)	missense	probably benign
R5564:Scin	UTSW	12	40,174,568 (GRCm39)	missense	probably benign
R5677:Scin	UTSW	12	40,113,258 (GRCm39)	missense	probably damaging	1.00
R5967:Scin	UTSW	12	40,127,537 (GRCm39)	missense	probably benign	0.35
R6027:Scin	UTSW	12	40,127,515 (GRCm39)	missense	probably damaging	1.00
R6130:Scin	UTSW	12	40,119,435 (GRCm39)	missense	probably benign	0.01
R6134:Scin	UTSW	12	40,110,578 (GRCm39)	missense	probably damaging	1.00
R6135:Scin	UTSW	12	40,129,807 (GRCm39)	missense	possibly damaging	0.80
R6439:Scin	UTSW	12	40,118,945 (GRCm39)	missense	probably damaging	0.99
R6613:Scin	UTSW	12	40,129,714 (GRCm39)	missense	probably benign	0.04
R7127:Scin	UTSW	12	40,155,071 (GRCm39)	missense	possibly damaging	0.69
R7234:Scin	UTSW	12	40,130,957 (GRCm39)	nonsense	probably null
R7431:Scin	UTSW	12	40,183,921 (GRCm39)	missense	probably damaging	1.00
R7609:Scin	UTSW	12	40,174,588 (GRCm39)	missense	probably damaging	1.00
R7665:Scin	UTSW	12	40,119,414 (GRCm39)	missense	probably damaging	1.00
R7704:Scin	UTSW	12	40,174,687 (GRCm39)	missense	possibly damaging	0.93
R7904:Scin	UTSW	12	40,126,999 (GRCm39)	missense	probably damaging	1.00
R7995:Scin	UTSW	12	40,129,804 (GRCm39)	missense	probably benign	0.00
R8323:Scin	UTSW	12	40,129,681 (GRCm39)	missense	probably benign	0.00
R8489:Scin	UTSW	12	40,131,019 (GRCm39)	missense	probably damaging	1.00
R8556:Scin	UTSW	12	40,127,593 (GRCm39)	critical splice acceptor site	probably null
R8915:Scin	UTSW	12	40,123,432 (GRCm39)	missense	probably damaging	1.00
R9063:Scin	UTSW	12	40,134,336 (GRCm39)	missense	possibly damaging	0.49
R9089:Scin	UTSW	12	40,131,703 (GRCm39)	nonsense	probably null
R9139:Scin	UTSW	12	40,113,236 (GRCm39)	missense	possibly damaging	0.75
R9457:Scin	UTSW	12	40,154,957 (GRCm39)	missense	possibly damaging	0.86
R9592:Scin	UTSW	12	40,131,746 (GRCm39)	missense	probably benign	0.01
X0018:Scin	UTSW	12	40,119,432 (GRCm39)	missense	probably damaging	1.00
Z1176:Scin	UTSW	12	40,129,603 (GRCm39)	missense	probably benign	0.37

Posted On

2016-08-02