Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Scin'

293871

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 #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

40109768-40184227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40127530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 420 (Y420F)

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: Y420F

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: Y420F

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: Y420F

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565
AA Change: Y420F

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,790,764 (GRCm39)	N748Y	probably damaging	Het
Actbl2	A	G	13: 111,391,701 (GRCm39)	D12G	possibly damaging	Het
Adamts10	T	C	17: 33,747,785 (GRCm39)	S74P	probably benign	Het
Adprs	C	T	4: 126,211,701 (GRCm39)		probably benign	Het
Amn1	A	G	6: 149,070,944 (GRCm39)		probably null	Het
Antxr1	A	T	6: 87,264,038 (GRCm39)	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Cabp5	A	T	7: 13,132,269 (GRCm39)	R13*	probably null	Het
Cacna1e	A	G	1: 154,296,859 (GRCm39)	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,875,263 (GRCm39)	E364G	possibly damaging	Het
Ccdc18	C	T	5: 108,283,918 (GRCm39)	P74S	probably damaging	Het
Clec3a	C	T	8: 115,152,240 (GRCm39)	S82L	probably benign	Het
Cnih3	A	G	1: 181,234,078 (GRCm39)	D43G	probably damaging	Het
Dpp10	G	A	1: 123,578,087 (GRCm39)	T128M	probably damaging	Het
Edar	A	T	10: 58,464,403 (GRCm39)	F79I	probably damaging	Het
Eif2ak4	T	A	2: 118,251,272 (GRCm39)	H199Q	probably benign	Het
Fermt1	A	G	2: 132,783,871 (GRCm39)	L46P	probably damaging	Het
Glipr1	A	G	10: 111,824,799 (GRCm39)		probably benign	Het
Gsdmc	T	C	15: 63,675,428 (GRCm39)	N129S	probably damaging	Het
Ift88	T	C	14: 57,718,871 (GRCm39)	S619P	possibly damaging	Het
Itga9	T	A	9: 118,679,873 (GRCm39)	V262E	probably benign	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mta1	T	A	12: 113,100,203 (GRCm39)	I688N	possibly damaging	Het
Muc4	A	T	16: 32,570,894 (GRCm39)	R651S	probably benign	Het
Opcml	A	G	9: 28,586,560 (GRCm39)	I93V	probably damaging	Het
Or12d17	C	T	17: 37,777,477 (GRCm39)	P127S	probably damaging	Het
Or13p4	A	G	4: 118,547,538 (GRCm39)	L37P	probably damaging	Het
Or9r7	A	G	10: 129,962,773 (GRCm39)	V51A	possibly damaging	Het
Parg	T	G	14: 31,984,638 (GRCm39)		probably null	Het
Rps3a3	A	G	13: 108,807,417 (GRCm39)		probably benign	Het
Safb	T	A	17: 56,907,813 (GRCm39)		probably benign	Het
Sat2	G	T	11: 69,513,575 (GRCm39)	C54F	probably damaging	Het
Slc22a29	A	T	19: 8,146,717 (GRCm39)	S362T	probably benign	Het
Smchd1	T	C	17: 71,738,254 (GRCm39)	D537G	probably null	Het
Spred3	A	G	7: 28,865,830 (GRCm39)	S126P	probably benign	Het
Ssh1	C	T	5: 114,080,578 (GRCm39)	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,441 (GRCm39)	E28G	possibly damaging	Het
Stox1	A	T	10: 62,495,455 (GRCm39)		probably benign	Het
Syn3	T	C	10: 85,900,770 (GRCm39)	I373V	probably benign	Het
Tecrl	A	T	5: 83,502,674 (GRCm39)	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,033,191 (GRCm39)	N1655S	possibly damaging	Het
Usp2	G	T	9: 44,002,524 (GRCm39)	Q147H	probably damaging	Het
Usp24	T	A	4: 106,264,326 (GRCm39)	N1751K	possibly damaging	Het
Wipf1	T	A	2: 73,264,487 (GRCm39)	D438V	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
IGL03221:Scin	APN	12	40,126,973 (GRCm39)	missense	probably benign	0.01
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

2015-04-16