Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01946:Scin'

180975

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 #

IGL01946

Quality Score

Status

Chromosome

Chromosomal Location

40109768-40184227 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 40110490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077573 (fasta)

Gene Model

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

AlphaFold

Q60604

Predicted Effect

probably benign
Transcript: ENSMUST00000002640

SMART Domains

Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565

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

SMART Domains

Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,547,442 (GRCm39)	E343K	possibly damaging	Het
Abcc9	T	C	6: 142,571,763 (GRCm39)	I1087V	probably benign	Het
Bcam	A	C	7: 19,494,042 (GRCm39)	Y416*	probably null	Het
Bhlhe22	T	A	3: 18,109,960 (GRCm39)	C337S	probably damaging	Het
Cerkl	T	C	2: 79,223,364 (GRCm39)	D119G	probably benign	Het
Cog6	T	C	3: 52,909,825 (GRCm39)		probably benign	Het
Dchs1	T	C	7: 105,408,312 (GRCm39)	D1840G	probably damaging	Het
Dhx16	G	T	17: 36,196,396 (GRCm39)	M521I	probably benign	Het
Dnaja2	A	G	8: 86,273,329 (GRCm39)	I196T	probably damaging	Het
Fbxw7	T	C	3: 84,811,369 (GRCm39)	Y165H	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm3371	A	G	14: 44,646,178 (GRCm39)	Y96H	probably damaging	Het
H2-T10	G	A	17: 36,431,608 (GRCm39)	A82V	possibly damaging	Het
Hydin	A	G	8: 111,217,350 (GRCm39)	T1413A	possibly damaging	Het
Krt23	T	A	11: 99,383,665 (GRCm39)	M76L	possibly damaging	Het
Lipe	A	T	7: 25,082,701 (GRCm39)	M504K	possibly damaging	Het
Lrrc37	T	A	11: 103,503,759 (GRCm39)	R560S	probably benign	Het
Lta4h	T	A	10: 93,307,232 (GRCm39)		probably benign	Het
Ltbp2	T	C	12: 84,877,522 (GRCm39)	T348A	probably damaging	Het
Mybpc2	C	A	7: 44,159,322 (GRCm39)		probably benign	Het
Or51r1	T	C	7: 102,227,734 (GRCm39)		probably null	Het
Or52r1b	T	A	7: 102,691,357 (GRCm39)	S219T	probably damaging	Het
Pdp2	G	A	8: 105,320,824 (GRCm39)	M224I	probably benign	Het
Pimreg	C	T	11: 71,935,804 (GRCm39)		probably benign	Het
Pld1	A	T	3: 28,178,766 (GRCm39)	S887C	probably damaging	Het
Ppp1r3g	G	A	13: 36,152,978 (GRCm39)	A133T	possibly damaging	Het
Prpf8	G	A	11: 75,390,818 (GRCm39)	G1323D	probably damaging	Het
Rab3ip	A	G	10: 116,773,300 (GRCm39)		probably null	Het
Rpain	A	G	11: 70,861,358 (GRCm39)	H9R	possibly damaging	Het
Serpinb6d	A	G	13: 33,855,369 (GRCm39)	T348A	probably benign	Het
Smad3	A	G	9: 63,664,835 (GRCm39)	L42P	probably damaging	Het
Smr3a	C	T	5: 88,156,014 (GRCm39)		probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r13	G	A	5: 109,322,085 (GRCm39)	T204I	probably benign	Het
Zfhx3	A	G	8: 109,660,561 (GRCm39)	N1272D	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
IGL02040:Scin	APN	12	40,119,452 (GRCm39)	intron	probably benign
IGL02391:Scin	APN	12	40,127,530 (GRCm39)	missense	probably benign	0.05
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

2014-05-07