Mutagenetix > Incidental Mutation

Incidental Mutation 'R6439:Scin'

518943

Institutional Source

Beutler Lab

Gene Symbol

Scin

Ensembl Gene

ENSMUSG00000002565

Gene Name

scinderin

Synonyms

adseverin

MMRRC Submission

044577-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6439 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40109768-40184227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40118945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 617 (Y617C)

Ref Sequence

ENSEMBL: ENSMUSP00000002640 (fasta)

Gene Model

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

AlphaFold

Q60604

Predicted Effect

probably damaging
Transcript: ENSMUST00000002640
AA Change: Y617C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: Y617C

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

Meta Mutation Damage Score

0.5386

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

100% (35/35)

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
9130401M01Rik	T	C	15: 57,895,444 (GRCm39)	D18G	probably null	Het
A530064D06Rik	A	G	17: 48,473,653 (GRCm39)	V88A	probably damaging	Het
Abhd6	T	C	14: 8,055,589 (GRCm38)	L272P	probably damaging	Het
Adam25	C	T	8: 41,207,627 (GRCm39)	R298C	possibly damaging	Het
Adam34l	T	C	8: 44,078,988 (GRCm39)	N412S	probably damaging	Het
Afap1l2	T	C	19: 56,916,818 (GRCm39)	N219D	possibly damaging	Het
Brd3	A	G	2: 27,353,938 (GRCm39)	F58S	probably damaging	Het
Ceacam3	G	A	7: 16,892,253 (GRCm39)	R332H	possibly damaging	Het
Cfap57	C	A	4: 118,446,172 (GRCm39)		probably null	Het
Chd2	A	G	7: 73,130,154 (GRCm39)	F834L	probably damaging	Het
Crocc2	A	G	1: 93,111,126 (GRCm39)	K140E	possibly damaging	Het
Fam117b	A	G	1: 60,020,731 (GRCm39)	T534A	probably benign	Het
Fchsd1	C	T	18: 38,102,487 (GRCm39)	V14I	probably damaging	Het
Grid2ip	A	T	5: 143,359,257 (GRCm39)	E291V	probably damaging	Het
Hbp1	A	G	12: 31,987,720 (GRCm39)	L146S	probably damaging	Het
Hr	A	G	14: 70,799,276 (GRCm39)	D616G	possibly damaging	Het
Igfbp5	A	C	1: 72,902,300 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,287,022 (GRCm39)		probably null	Het
Mpl	T	C	4: 118,305,750 (GRCm39)	D425G	probably damaging	Het
Ms4a4c	T	C	19: 11,398,676 (GRCm39)	S165P	probably benign	Het
Mycbp2	A	G	14: 103,392,911 (GRCm39)	S3217P	probably benign	Het
Nfatc3	T	A	8: 106,810,502 (GRCm39)	L426*	probably null	Het
Or4f47	T	C	2: 111,972,509 (GRCm39)	V73A	probably benign	Het
Or5ak24	T	C	2: 85,261,068 (GRCm39)	Y35C	probably damaging	Het
Or7a42	T	A	10: 78,791,818 (GRCm39)	Y260N	probably damaging	Het
Phf1	G	T	17: 27,155,586 (GRCm39)	V384L	probably benign	Het
Rangap1	T	C	15: 81,596,336 (GRCm39)	T259A	probably benign	Het
Rec8	A	G	14: 55,856,076 (GRCm39)	N6S	possibly damaging	Het
Rmdn2	G	A	17: 79,934,971 (GRCm39)		probably benign	Het
Ttc13	T	C	8: 125,400,221 (GRCm39)	S744G	probably benign	Het
Ttc14	T	C	3: 33,862,968 (GRCm39)		probably benign	Het
Uggt1	T	C	1: 36,214,032 (GRCm39)	E219G	possibly damaging	Het
Vmn1r183	A	G	7: 23,754,704 (GRCm39)	D169G	possibly damaging	Het
Vmn1r72	A	T	7: 11,413,064 (GRCm39)		probably null	Het
Zfp326	T	G	5: 106,036,584 (GRCm39)	M76R	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCATCTGCCATATCATTAGGCC -3'
(R):5'- GCAAGTGTTGATGGCATCTG -3'

Sequencing Primer
(F):5'- TAGGCCTTAAACTACTTGCACAGAG -3'
(R):5'- CAAGTGTTGATGGCATCTGGTATC -3'

Posted On

2018-05-24