Incidental Mutation 'IGL01807:Scin'
ID 155695
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 # IGL01807
Quality Score
Status
Chromosome 12
Chromosomal Location 40109768-40184227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40134288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 252 (Y252C)
Ref Sequence ENSEMBL: ENSMUSP00000077573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002640] [ENSMUST00000078481]
AlphaFold Q60604
Predicted Effect probably damaging
Transcript: ENSMUST00000002640
AA Change: Y252C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: Y252C

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 damaging
Transcript: ENSMUST00000078481
AA Change: Y252C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565
AA Change: Y252C

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
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G T 6: 142,551,640 (GRCm39) L1223M probably damaging Het
Ano7 A G 1: 93,330,418 (GRCm39) E814G possibly damaging Het
Atf1 T C 15: 100,149,945 (GRCm39) probably benign Het
Bco2 T C 9: 50,457,158 (GRCm39) probably benign Het
Birc6 A G 17: 74,938,032 (GRCm39) I2625V probably benign Het
Bub1 A G 2: 127,654,897 (GRCm39) S545P probably benign Het
Cacna1i T A 15: 80,258,348 (GRCm39) I1173N probably damaging Het
Ccdc175 T C 12: 72,206,616 (GRCm39) E210G probably benign Het
Ccl2 G A 11: 81,926,513 (GRCm39) G9D possibly damaging Het
Chmp2b T A 16: 65,337,091 (GRCm39) T189S probably benign Het
Col4a1 A T 8: 11,297,056 (GRCm39) probably benign Het
Ecm1 A G 3: 95,643,891 (GRCm39) S236P probably damaging Het
Epha8 A G 4: 136,658,993 (GRCm39) V887A probably benign Het
Fam227a T C 15: 79,533,856 (GRCm39) M36V probably benign Het
Fbxo15 T A 18: 84,999,506 (GRCm39) probably benign Het
Mtmr4 A G 11: 87,494,976 (GRCm39) I423V possibly damaging Het
Ngly1 C T 14: 16,290,873 (GRCm38) L452F probably benign Het
Or52u1 T A 7: 104,237,091 (GRCm39) W27R probably damaging Het
Or5ac15 T C 16: 58,939,936 (GRCm39) T166A possibly damaging Het
Pak2 T C 16: 31,856,097 (GRCm39) K247E probably damaging Het
Pola2 A G 19: 6,003,187 (GRCm39) probably benign Het
Ppp1r9a C T 6: 5,158,248 (GRCm39) Q1219* probably null Het
Rasgrf1 T C 9: 89,873,566 (GRCm39) I625T probably damaging Het
Rpap1 T C 2: 119,613,189 (GRCm39) T120A possibly damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smc1b T A 15: 84,980,946 (GRCm39) D774V probably damaging Het
Uba6 C T 5: 86,270,270 (GRCm39) R838Q probably damaging Het
Ulk4 A G 9: 121,084,251 (GRCm39) S105P probably damaging Het
Vwa3a G A 7: 120,374,729 (GRCm39) probably null Het
Xirp2 A G 2: 67,345,375 (GRCm39) T2539A probably benign Het
Zfpm2 T C 15: 40,616,452 (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
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
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 2014-02-04