Incidental Mutation 'R4915:Scin'
ID 379983
Institutional Source Beutler Lab
Gene Symbol Scin
Ensembl Gene ENSMUSG00000002565
Gene Name scinderin
Synonyms adseverin
MMRRC Submission 042517-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4915 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 40109768-40184227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40119373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 552 (I552F)
Ref Sequence ENSEMBL: ENSMUSP00000002640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002640] [ENSMUST00000078481]
AlphaFold Q60604
Predicted Effect possibly damaging
Transcript: ENSMUST00000002640
AA Change: I552F

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: I552F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.1150 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 87.9%
Validation Efficiency 98% (162/166)
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: 135 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,236,420 (GRCm39) A1257V possibly damaging Het
Aldh8a1 T C 10: 21,271,662 (GRCm39) S463P probably damaging Het
Angptl1 T G 1: 156,672,388 (GRCm39) D71E probably benign Het
Ank2 T A 3: 126,736,320 (GRCm39) probably benign Het
Ano1 A G 7: 144,165,112 (GRCm39) S649P possibly damaging Het
Arhgef40 A G 14: 52,227,556 (GRCm39) E434G probably damaging Het
Asb15 A T 6: 24,566,292 (GRCm39) D415V probably damaging Het
Baz2b T A 2: 59,744,387 (GRCm39) T1373S possibly damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bmi1 G A 2: 18,687,143 (GRCm39) probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Brd9 A G 13: 74,086,574 (GRCm39) E25G probably damaging Het
Btbd7 A T 12: 102,804,046 (GRCm39) C331* probably null Het
Ccdc198 A T 14: 49,470,351 (GRCm39) N189K probably benign Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cenpj T C 14: 56,791,175 (GRCm39) D328G probably damaging Het
Cherp T C 8: 73,222,241 (GRCm39) D255G probably damaging Het
Clec5a T A 6: 40,562,165 (GRCm39) probably benign Het
Cntnap2 T C 6: 46,506,969 (GRCm39) probably benign Het
Col7a1 G A 9: 108,795,532 (GRCm39) G1529E unknown Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2a22 C A 7: 26,637,195 (GRCm39) E196D probably benign Het
Cyp4f18 T A 8: 72,762,898 (GRCm39) H63L probably damaging Het
Dclk2 A T 3: 86,732,049 (GRCm39) probably null Het
Ddx6 T A 9: 44,524,170 (GRCm39) D82E probably damaging Het
Defb42 A G 14: 63,285,790 (GRCm39) I57V probably benign Het
Dennd5a A G 7: 109,500,296 (GRCm39) F943S probably damaging Het
Dip2c T A 13: 9,671,905 (GRCm39) probably null Het
Disp2 A T 2: 118,620,935 (GRCm39) S556C probably damaging Het
Dnah12 A T 14: 26,455,725 (GRCm39) D816V probably damaging Het
Dpy19l3 T C 7: 35,452,167 (GRCm39) probably benign Het
Efcab11 T C 12: 99,685,321 (GRCm39) D151G probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Evl G T 12: 108,652,365 (GRCm39) R359L probably damaging Het
Fasn T G 11: 120,707,472 (GRCm39) N799T probably benign Het
Fbxo3 T G 2: 103,885,311 (GRCm39) N388K probably damaging Het
Fbxw14 A T 9: 109,103,592 (GRCm39) F40Y possibly damaging Het
Fbxw22 A G 9: 109,213,009 (GRCm39) F313L probably damaging Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fn1 A T 1: 71,634,968 (GRCm39) probably null Het
Fry A T 5: 150,402,328 (GRCm39) T790S probably benign Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
Gfra1 A T 19: 58,255,522 (GRCm39) S308R probably damaging Het
Gm13030 T A 4: 138,601,239 (GRCm39) probably benign Het
Gm37150 C T 9: 72,292,772 (GRCm39) noncoding transcript Het
Gm6788 C T 19: 28,740,664 (GRCm39) noncoding transcript Het
Gm8122 T C 14: 43,091,573 (GRCm39) N65S unknown Het
Gnb4 C T 3: 32,639,236 (GRCm39) probably benign Het
Gprin1 G T 13: 54,885,886 (GRCm39) P796Q probably damaging Het
Grin1 A G 2: 25,188,565 (GRCm39) probably benign Het
Helz2 T C 2: 180,874,231 (GRCm39) R2088G possibly damaging Het
Hsd3b9 C T 3: 98,357,845 (GRCm39) V56M probably damaging Het
Ighv6-6 C A 12: 114,398,595 (GRCm39) R57L probably damaging Het
Inhca A C 9: 103,129,054 (GRCm39) Y235* probably null Het
Inpp5f A T 7: 128,286,840 (GRCm39) D573V probably damaging Het
Iqgap3 T A 3: 88,008,834 (GRCm39) I643K possibly damaging Het
Itga11 C A 9: 62,659,530 (GRCm39) Y427* probably null Het
Kbtbd8 T G 6: 95,103,515 (GRCm39) M388R possibly damaging Het
Kif1a T A 1: 93,002,700 (GRCm39) E233V probably benign Het
Krt10 T C 11: 99,278,334 (GRCm39) N275S probably damaging Het
Lrrc3 T C 10: 77,737,253 (GRCm39) D61G probably benign Het
Mapk8ip3 A G 17: 25,128,127 (GRCm39) S377P possibly damaging Het
Mccc1 A G 3: 36,051,703 (GRCm39) L32S probably benign Het
Meis1 T C 11: 18,959,222 (GRCm39) probably benign Het
Mmp11 C T 10: 75,761,419 (GRCm39) A31T probably damaging Het
Mthfsl A C 9: 88,597,550 (GRCm39) L67V probably damaging Het
Myo1c T G 11: 75,547,135 (GRCm39) M1R probably null Het
N4bp2 T A 5: 65,960,847 (GRCm39) M506K probably damaging Het
Nfix T C 8: 85,498,458 (GRCm39) I172V probably benign Het
Nid1 A G 13: 13,674,171 (GRCm39) E850G possibly damaging Het
Nlrp9c T C 7: 26,083,885 (GRCm39) T565A probably benign Het
Nomo1 T C 7: 45,693,656 (GRCm39) F163L probably benign Het
Nsd1 T C 13: 55,395,681 (GRCm39) V1197A possibly damaging Het
Nsd1 A G 13: 55,424,341 (GRCm39) T1463A probably benign Het
Nsf G A 11: 103,801,185 (GRCm39) probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Or4k51 A T 2: 111,584,725 (GRCm39) I44F probably benign Het
Or5an1c A G 19: 12,218,737 (GRCm39) V96A probably benign Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Or8k33 A G 2: 86,384,399 (GRCm39) L23P probably damaging Het
Or9g10 T C 2: 85,584,465 (GRCm39) probably benign Het
Pcdha6 T A 18: 37,101,510 (GRCm39) D234E probably damaging Het
Pcnx1 C A 12: 82,021,269 (GRCm39) F1425L probably benign Het
Pdzd9 T G 7: 120,269,391 (GRCm39) N10T possibly damaging Het
Pex6 A T 17: 47,024,982 (GRCm39) H345L probably damaging Het
Pfkfb3 G A 2: 11,495,109 (GRCm39) Q100* probably null Het
Pgm2 G A 5: 64,258,291 (GRCm39) G92E probably damaging Het
Pip4k2c T C 10: 127,035,196 (GRCm39) T391A possibly damaging Het
Plcxd2 C T 16: 45,800,941 (GRCm39) W94* probably null Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Prkcg T G 7: 3,378,781 (GRCm39) Y624* probably null Het
Rabep2 T C 7: 126,044,094 (GRCm39) S517P probably damaging Het
Rabgap1l A G 1: 160,269,412 (GRCm39) I717T probably benign Het
Rasef A G 4: 73,649,696 (GRCm39) C484R probably damaging Het
Rdh19 A G 10: 127,686,113 (GRCm39) D75G probably benign Het
Rpl21-ps10 T C 3: 38,161,617 (GRCm39) noncoding transcript Het
Rsl1d1 A T 16: 11,017,593 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rwdd1 T C 10: 33,885,074 (GRCm39) D62G possibly damaging Het
Scn3a T C 2: 65,291,799 (GRCm39) N1649S probably damaging Het
Slc20a2 C T 8: 23,051,020 (GRCm39) S351L probably damaging Het
Slc24a1 A T 9: 64,855,213 (GRCm39) F565I unknown Het
Slc4a1 A G 11: 102,243,279 (GRCm39) V784A probably damaging Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Sox6 T C 7: 115,076,199 (GRCm39) D814G probably damaging Het
Spata4 T C 8: 55,055,471 (GRCm39) probably null Het
Spats2l A T 1: 57,941,347 (GRCm39) K202M probably damaging Het
Speer4b C T 5: 27,705,134 (GRCm39) E80K probably benign Het
Sqle T G 15: 59,193,218 (GRCm39) Y198* probably null Het
Srek1 T C 13: 103,889,194 (GRCm39) probably benign Het
Srek1 T C 13: 103,889,071 (GRCm39) probably benign Het
St14 G A 9: 31,019,960 (GRCm39) R50* probably null Het
Tcaf1 A G 6: 42,652,130 (GRCm39) V784A probably damaging Het
Tfr2 C T 5: 137,581,673 (GRCm39) R587W probably damaging Het
Tmpo A G 10: 90,985,411 (GRCm39) V357A probably damaging Het
Trrap A T 5: 144,742,545 (GRCm39) I1101F probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttpal G A 2: 163,449,397 (GRCm39) R84H probably damaging Het
Tyk2 T C 9: 21,022,433 (GRCm39) T799A probably benign Het
Ugt1a10 A T 1: 87,983,646 (GRCm39) D148V probably damaging Het
Usp29 C T 7: 6,964,504 (GRCm39) P116S probably benign Het
Usp8 A T 2: 126,562,060 (GRCm39) K85* probably null Het
Usp9y C T Y: 1,316,735 (GRCm39) R1938H probably damaging Het
Vmn1r90 T G 7: 14,295,950 (GRCm39) R49S possibly damaging Het
Vmn2r71 C A 7: 85,270,476 (GRCm39) N547K probably damaging Het
Vps45 T C 3: 95,926,943 (GRCm39) T535A probably damaging Het
Yars1 A T 4: 129,104,384 (GRCm39) probably benign Het
Zfp114 T C 7: 23,877,290 (GRCm39) L44P probably damaging Het
Zfp36l2 A G 17: 84,493,690 (GRCm39) probably benign Het
Zfp512 T C 5: 31,634,209 (GRCm39) S407P probably damaging Het
Zfp574 C T 7: 24,780,151 (GRCm39) P391L probably damaging Het
Zfp607a T G 7: 27,577,985 (GRCm39) C352G probably benign Het
Zfp791 T A 8: 85,837,580 (GRCm39) I95L probably benign Het
Zfr A C 15: 12,162,198 (GRCm39) probably null Het
Other mutations in Scin
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GATACCAGATGCCATCAACACTTG -3'
(R):5'- GCACCTATGCCTTGAATTAGGG -3'

Sequencing Primer
(F):5'- CTTGCAATTAACAGAAGCATCCTTAC -3'
(R):5'- CCTTGAATTAGGGCCAGGCAG -3'
Posted On 2016-04-15