Mutagenetix > Incidental Mutation

Incidental Mutation 'R5967:Scin'

470674

Institutional Source

Beutler Lab

Gene Symbol

Scin

Ensembl Gene

ENSMUSG00000002565

Gene Name

scinderin

Synonyms

adseverin

MMRRC Submission

043248-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40109768-40184227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40127537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 418 (E418K)

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: E418K

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: E418K

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: E418K

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565
AA Change: E418K

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

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	A	3: 116,587,357 (GRCm39)	D66V	probably benign	Het
Agrn	G	A	4: 156,259,560 (GRCm39)	P792S	probably damaging	Het
Angptl2	A	G	2: 33,118,718 (GRCm39)	N164S	probably damaging	Het
Birc6	T	C	17: 74,967,434 (GRCm39)	F4112L	probably damaging	Het
C8b	A	G	4: 104,650,530 (GRCm39)	E446G	possibly damaging	Het
Ceacam1	C	T	7: 25,174,167 (GRCm39)	V163I	probably damaging	Het
Cngb1	T	C	8: 95,978,534 (GRCm39)	K1068R	probably damaging	Het
Gna11	A	G	10: 81,366,643 (GRCm39)	Y356H	probably benign	Het
Gnl2	A	G	4: 124,934,823 (GRCm39)	M160V	probably benign	Het
Gpsm1	A	G	2: 26,230,546 (GRCm39)		probably null	Het
Grep1	C	A	17: 23,931,332 (GRCm39)	G192W	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Kif20a	G	T	18: 34,763,580 (GRCm39)	R609L	probably benign	Het
Meis2	G	A	2: 115,694,790 (GRCm39)	T444I	probably benign	Het
Muc17	T	A	5: 137,175,485 (GRCm39)	I62L	probably benign	Het
Myorg	G	A	4: 41,497,830 (GRCm39)	A600V	probably benign	Het
Ncor2	C	T	5: 125,146,048 (GRCm39)	D526N	unknown	Het
Nodal	G	T	10: 61,259,446 (GRCm39)	E294D	probably damaging	Het
Nup214	T	C	2: 31,869,790 (GRCm39)	V161A	possibly damaging	Het
Or10a48	C	T	7: 108,424,921 (GRCm39)	G95D	probably benign	Het
Or5k1b	G	T	16: 58,580,725 (GRCm39)	D271E	probably damaging	Het
Or5m11b	G	A	2: 85,806,535 (GRCm39)	R316H	probably benign	Het
Pclo	A	T	5: 14,590,669 (GRCm39)	T990S	unknown	Het
Piwil2	A	T	14: 70,628,013 (GRCm39)	M752K	probably benign	Het
Ppargc1b	A	G	18: 61,431,837 (GRCm39)	S1004P	probably damaging	Het
Prkd1	A	T	12: 50,411,333 (GRCm39)	M805K	probably damaging	Het
Rad23a	T	C	8: 85,565,568 (GRCm39)	E30G	probably damaging	Het
Ralbp1	A	G	17: 66,171,274 (GRCm39)	V233A	probably benign	Het
Scn7a	T	A	2: 66,506,057 (GRCm39)	I1611F	probably damaging	Het
Slit2	A	T	5: 48,142,506 (GRCm39)	H42L	probably damaging	Het
Stard9	T	A	2: 120,537,375 (GRCm39)	V4259D	probably damaging	Het
Trhde	T	A	10: 114,403,039 (GRCm39)	Y528F	probably damaging	Het
Txlnb	A	G	10: 17,675,168 (GRCm39)	E107G	probably damaging	Het
Zfp715	T	C	7: 42,948,572 (GRCm39)	T463A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GCACGCTGTACAGATAATCAAAGG -3'
(R):5'- TCTCAGAACTGATGAGATATTGTGG -3'

Sequencing Primer
(F):5'- GATAATCAAAGGATGGTTCCCCCTC -3'
(R):5'- GTCAAGAAATTTGTTAACCTTCTTGC -3'

Posted On

2017-03-31