Incidental Mutation 'R5233:Scin'
| ID |
398152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scin
|
| Ensembl Gene |
ENSMUSG00000002565 |
| Gene Name |
scinderin |
| Synonyms |
adseverin |
| MMRRC Submission |
042805-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5233 (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 40127558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 411
(I411F)
|
| 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: I411F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: I411F
| 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: I411F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565
AA Change: I411F
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
100% (56/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030619P08Rik |
T |
A |
15: 75,301,801 (GRCm39) |
|
noncoding transcript |
Het |
| Aadat |
A |
G |
8: 60,979,656 (GRCm39) |
I173V |
probably benign |
Het |
| Acsl6 |
G |
A |
11: 54,216,432 (GRCm39) |
V200I |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,633,353 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
A |
T |
7: 100,530,576 (GRCm39) |
D1403E |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,121,387 (GRCm39) |
T1017A |
probably benign |
Het |
| Capg |
C |
T |
6: 72,532,509 (GRCm39) |
R25C |
probably damaging |
Het |
| Cd22 |
A |
G |
7: 30,576,959 (GRCm39) |
I116T |
probably damaging |
Het |
| Cep135 |
AGTCTGCCTTTGG |
A |
5: 76,739,690 (GRCm39) |
|
probably benign |
Het |
| Ciita |
A |
T |
16: 10,327,265 (GRCm39) |
I277F |
possibly damaging |
Het |
| Col15a1 |
T |
C |
4: 47,296,112 (GRCm39) |
V943A |
possibly damaging |
Het |
| Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
| Csn3 |
C |
T |
5: 88,077,694 (GRCm39) |
P67S |
probably benign |
Het |
| Csrnp3 |
A |
G |
2: 65,852,684 (GRCm39) |
T359A |
possibly damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 104,912,357 (GRCm39) |
L509P |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,297,749 (GRCm39) |
D431G |
probably benign |
Het |
| Dtx3l |
A |
T |
16: 35,753,608 (GRCm39) |
C333S |
possibly damaging |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Fam171a1 |
G |
C |
2: 3,179,390 (GRCm39) |
G72A |
probably damaging |
Het |
| Fbxw17 |
T |
C |
13: 50,586,390 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
G |
5: 150,393,185 (GRCm39) |
D605G |
possibly damaging |
Het |
| Fyn |
T |
C |
10: 39,405,936 (GRCm39) |
F240S |
probably benign |
Het |
| Gcfc2 |
T |
C |
6: 81,930,271 (GRCm39) |
L646P |
probably damaging |
Het |
| Gm5087 |
C |
T |
14: 13,158,788 (GRCm38) |
|
noncoding transcript |
Het |
| Got2 |
T |
A |
8: 96,602,477 (GRCm39) |
N91I |
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,177,802 (GRCm39) |
V103I |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,792,600 (GRCm39) |
|
probably null |
Het |
| Krt33a |
A |
G |
11: 99,904,961 (GRCm39) |
S182P |
probably damaging |
Het |
| Mcph1 |
T |
C |
8: 18,721,254 (GRCm39) |
I694T |
probably damaging |
Het |
| Mmp15 |
T |
C |
8: 96,097,696 (GRCm39) |
V502A |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,867,235 (GRCm39) |
V23A |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,817,900 (GRCm39) |
N2322K |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,503,766 (GRCm39) |
Y11C |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 49,826,062 (GRCm39) |
F199S |
probably damaging |
Het |
| Nup210 |
C |
T |
6: 91,003,951 (GRCm39) |
V646M |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,845,029 (GRCm39) |
S13R |
unknown |
Het |
| Nxf1 |
T |
C |
19: 8,741,293 (GRCm39) |
I54T |
possibly damaging |
Het |
| Or8b38 |
A |
G |
9: 37,973,446 (GRCm39) |
T277A |
probably damaging |
Het |
| Pcdh10 |
C |
A |
3: 45,338,626 (GRCm39) |
R928S |
probably damaging |
Het |
| Pou3f3 |
A |
G |
1: 42,737,438 (GRCm39) |
N378S |
probably benign |
Het |
| Rfx6 |
T |
A |
10: 51,588,187 (GRCm39) |
Y109* |
probably null |
Het |
| Rorc |
T |
A |
3: 94,304,632 (GRCm39) |
V339D |
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,758 (GRCm39) |
Y195C |
probably damaging |
Het |
| Tas2r117 |
T |
C |
6: 132,780,585 (GRCm39) |
V241A |
possibly damaging |
Het |
| Tet3 |
T |
A |
6: 83,363,045 (GRCm39) |
E709V |
probably damaging |
Het |
| Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
| Vmn1r212 |
C |
A |
13: 23,067,304 (GRCm39) |
G343V |
unknown |
Het |
| Vmn2r42 |
T |
A |
7: 8,197,837 (GRCm39) |
K261* |
probably null |
Het |
| Xrcc5 |
T |
A |
1: 72,379,209 (GRCm39) |
L438Q |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,624,608 (GRCm39) |
N72S |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,809,755 (GRCm39) |
S1096R |
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 |
|
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 |
|
|
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'- ACTATCTGCACGCTGTACAG -3'
(R):5'- TCTCAGAACTGATGAGATATTGTGGAG -3'
Sequencing Primer
(F):5'- TCTGCACGCTGTACAGATAATC -3'
(R):5'- GTCAAGAAATTTGTTAACCTTCTTGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation