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

40059769-40134228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40077531 bp (GRCm38)

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: 118,553,352	N748Y	probably damaging	Het
Actbl2	A	G	13: 111,255,167	D12G	possibly damaging	Het
Adamts10	T	C	17: 33,528,811	S74P	probably benign	Het
Adprhl2	C	T	4: 126,317,908		probably benign	Het
Amn1	A	G	6: 149,169,446		probably null	Het
Antxr1	A	T	6: 87,287,056	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Cabp5	A	T	7: 13,398,344	R13*	probably null	Het
Cacna1e	A	G	1: 154,421,113	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,898,282	E364G	possibly damaging	Het
Ccdc18	C	T	5: 108,136,052	P74S	probably damaging	Het
Clec3a	C	T	8: 114,425,500	S82L	probably benign	Het
Cnih3	A	G	1: 181,406,513	D43G	probably damaging	Het
Dpp10	G	A	1: 123,650,358	T128M	probably damaging	Het
Edar	A	T	10: 58,628,581	F79I	probably damaging	Het
Eif2ak4	T	A	2: 118,420,791	H199Q	probably benign	Het
Fermt1	A	G	2: 132,941,951	L46P	probably damaging	Het
Glipr1	A	G	10: 111,988,894		probably benign	Het
Gsdmc	T	C	15: 63,803,579	N129S	probably damaging	Het
Ift88	T	C	14: 57,481,414	S619P	possibly damaging	Het
Itga9	T	A	9: 118,850,805	V262E	probably benign	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mta1	T	A	12: 113,136,583	I688N	possibly damaging	Het
Muc4	A	T	16: 32,752,076	R651S	probably benign	Het
Olfr109	C	T	17: 37,466,586	P127S	probably damaging	Het
Olfr1342	A	G	4: 118,690,341	L37P	probably damaging	Het
Olfr824	A	G	10: 130,126,904	V51A	possibly damaging	Het
Opcml	A	G	9: 28,675,264	I93V	probably damaging	Het
Parg	T	G	14: 32,262,681		probably null	Het
Rps3a3	A	G	13: 108,670,883		probably benign	Het
Safb	T	A	17: 56,600,813		probably benign	Het
Sat2	G	T	11: 69,622,749	C54F	probably damaging	Het
Slc22a29	A	T	19: 8,169,353	S362T	probably benign	Het
Smchd1	T	C	17: 71,431,259	D537G	probably null	Het
Spred3	A	G	7: 29,166,405	S126P	probably benign	Het
Ssh1	C	T	5: 113,942,517	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,442	E28G	possibly damaging	Het
Stox1	A	T	10: 62,659,676		probably benign	Het
Syn3	T	C	10: 86,064,906	I373V	probably benign	Het
Tecrl	A	T	5: 83,354,827	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,202,710	N1655S	possibly damaging	Het
Usp2	G	T	9: 44,091,227	Q147H	probably damaging	Het
Usp24	T	A	4: 106,407,129	N1751K	possibly damaging	Het
Wipf1	T	A	2: 73,434,143	D438V	probably damaging	Het

Other mutations in Scin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Scin	APN	12	40076972	missense	probably benign	0.03
IGL01414:Scin	APN	12	40124699	missense	probably damaging	1.00
IGL01790:Scin	APN	12	40063257	missense	probably benign	0.02
IGL01807:Scin	APN	12	40084289	missense	probably damaging	1.00
IGL01946:Scin	APN	12	40060491	utr 3 prime	probably benign
IGL02040:Scin	APN	12	40069453	intron	probably benign
IGL03221:Scin	APN	12	40076974	missense	probably benign	0.01
I1329:Scin	UTSW	12	40073330	missense	probably damaging	0.99
PIT4498001:Scin	UTSW	12	40069447	critical splice acceptor site	probably null
R0108:Scin	UTSW	12	40127987	missense	possibly damaging	0.68
R0470:Scin	UTSW	12	40073292	splice site	probably benign
R0477:Scin	UTSW	12	40060516	missense	probably damaging	1.00
R0538:Scin	UTSW	12	40081771	missense	probably damaging	0.98
R0539:Scin	UTSW	12	40081766	missense	possibly damaging	0.65
R0591:Scin	UTSW	12	40080930	critical splice donor site	probably null
R0668:Scin	UTSW	12	40080949	missense	probably damaging	1.00
R0718:Scin	UTSW	12	40079607	missense	probably damaging	1.00
R1473:Scin	UTSW	12	40077502	missense	probably benign
R1566:Scin	UTSW	12	40081674	missense	probably benign	0.17
R1570:Scin	UTSW	12	40084381	splice site	probably benign
R1624:Scin	UTSW	12	40127930	missense	probably benign
R1827:Scin	UTSW	12	40068923	missense	possibly damaging	0.88
R1836:Scin	UTSW	12	40124698	missense	probably damaging	1.00
R1985:Scin	UTSW	12	40133908	critical splice donor site	probably null
R2042:Scin	UTSW	12	40077510	missense	possibly damaging	0.96
R2061:Scin	UTSW	12	40080948	missense	probably damaging	1.00
R2147:Scin	UTSW	12	40080985	missense	probably benign	0.00
R2232:Scin	UTSW	12	40068931	missense	probably damaging	1.00
R2504:Scin	UTSW	12	40081706	missense	probably benign	0.02
R4781:Scin	UTSW	12	40081764	missense	possibly damaging	0.59
R4898:Scin	UTSW	12	40104932	missense	probably benign
R4914:Scin	UTSW	12	40069374	missense	possibly damaging	0.79
R4915:Scin	UTSW	12	40069374	missense	possibly damaging	0.79
R4916:Scin	UTSW	12	40069374	missense	possibly damaging	0.79
R4917:Scin	UTSW	12	40069374	missense	possibly damaging	0.79
R4918:Scin	UTSW	12	40069374	missense	possibly damaging	0.79
R5068:Scin	UTSW	12	40124700	missense	probably damaging	1.00
R5098:Scin	UTSW	12	40077542	nonsense	probably null
R5233:Scin	UTSW	12	40077559	missense	probably benign
R5564:Scin	UTSW	12	40124569	missense	probably benign
R5677:Scin	UTSW	12	40063259	missense	probably damaging	1.00
R5967:Scin	UTSW	12	40077538	missense	probably benign	0.35
R6027:Scin	UTSW	12	40077516	missense	probably damaging	1.00
R6130:Scin	UTSW	12	40069436	missense	probably benign	0.01
R6134:Scin	UTSW	12	40060579	missense	probably damaging	1.00
R6135:Scin	UTSW	12	40079808	missense	possibly damaging	0.80
R6439:Scin	UTSW	12	40068946	missense	probably damaging	0.99
R6613:Scin	UTSW	12	40079715	missense	probably benign	0.04
R7127:Scin	UTSW	12	40105072	missense	possibly damaging	0.69
R7234:Scin	UTSW	12	40080958	nonsense	probably null
R7431:Scin	UTSW	12	40133922	missense	probably damaging	1.00
R7609:Scin	UTSW	12	40124589	missense	probably damaging	1.00
R7665:Scin	UTSW	12	40069415	missense	probably damaging	1.00
R7704:Scin	UTSW	12	40124688	missense	possibly damaging	0.93
R7904:Scin	UTSW	12	40077000	missense	probably damaging	1.00
R7995:Scin	UTSW	12	40079805	missense	probably benign	0.00
R8323:Scin	UTSW	12	40079682	missense	probably benign	0.00
R8489:Scin	UTSW	12	40081020	missense	probably damaging	1.00
R8556:Scin	UTSW	12	40077594	critical splice acceptor site	probably null
R8915:Scin	UTSW	12	40073433	missense	probably damaging	1.00
R9063:Scin	UTSW	12	40084337	missense	possibly damaging	0.49
R9089:Scin	UTSW	12	40081704	nonsense	probably null
R9139:Scin	UTSW	12	40063237	missense	possibly damaging	0.75
R9457:Scin	UTSW	12	40104958	missense	possibly damaging	0.86
R9592:Scin	UTSW	12	40081747	missense	probably benign	0.01
X0018:Scin	UTSW	12	40069433	missense	probably damaging	1.00
Z1176:Scin	UTSW	12	40079604	missense	probably benign	0.37

Posted On

2015-04-16