Incidental Mutation 'R0470:Scin'
| ID |
41811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scin
|
| Ensembl Gene |
ENSMUSG00000002565 |
| Gene Name |
scinderin |
| Synonyms |
adseverin |
| MMRRC Submission |
038670-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0470 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
40109768-40184227 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 40123291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002640]
[ENSMUST00000078481]
|
| AlphaFold |
Q60604 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002640
|
| SMART Domains |
Protein: ENSMUSP00000002640
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 |
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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
G |
19: 8,986,331 (GRCm39) |
D2538E |
probably benign |
Het |
| Akr1c13 |
T |
A |
13: 4,248,500 (GRCm39) |
L235H |
probably damaging |
Het |
| Ank |
G |
A |
15: 27,571,721 (GRCm39) |
C331Y |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,293,129 (GRCm39) |
E768G |
probably benign |
Het |
| Atm |
A |
T |
9: 53,372,266 (GRCm39) |
V2172E |
probably damaging |
Het |
| Atp10b |
T |
A |
11: 43,093,866 (GRCm39) |
L470Q |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Ccn4 |
A |
G |
15: 66,789,227 (GRCm39) |
I238V |
probably benign |
Het |
| Cdadc1 |
A |
T |
14: 59,811,290 (GRCm39) |
|
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,749,517 (GRCm39) |
V155E |
probably damaging |
Het |
| Chp1 |
C |
T |
2: 119,391,244 (GRCm39) |
R34C |
probably damaging |
Het |
| Cilp2 |
A |
T |
8: 70,338,055 (GRCm39) |
V192E |
possibly damaging |
Het |
| Cyth1 |
T |
C |
11: 118,023,074 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,927,514 (GRCm39) |
|
probably benign |
Het |
| Gja3 |
T |
C |
14: 57,273,884 (GRCm39) |
T163A |
probably damaging |
Het |
| Gsdmcl1 |
C |
T |
15: 63,722,280 (GRCm39) |
|
noncoding transcript |
Het |
| Herc6 |
C |
T |
6: 57,596,437 (GRCm39) |
T459M |
probably damaging |
Het |
| Hexb |
A |
G |
13: 97,314,507 (GRCm39) |
L412P |
probably damaging |
Het |
| Il17ra |
T |
G |
6: 120,458,767 (GRCm39) |
D639E |
probably benign |
Het |
| Kcnh5 |
G |
A |
12: 75,161,188 (GRCm39) |
T240I |
probably benign |
Het |
| Lef1 |
T |
C |
3: 130,906,475 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
A |
10: 51,370,923 (GRCm39) |
N282K |
possibly damaging |
Het |
| Mbnl2 |
A |
T |
14: 120,642,062 (GRCm39) |
H342L |
probably damaging |
Het |
| Minar2 |
C |
T |
18: 59,208,711 (GRCm39) |
R120C |
probably damaging |
Het |
| Nipal3 |
A |
G |
4: 135,174,683 (GRCm39) |
V356A |
probably damaging |
Het |
| Or2a54 |
C |
G |
6: 43,093,558 (GRCm39) |
A294G |
probably null |
Het |
| Or51i1 |
A |
T |
7: 103,670,877 (GRCm39) |
I216N |
probably damaging |
Het |
| Plekha6 |
G |
A |
1: 133,200,045 (GRCm39) |
R208Q |
probably benign |
Het |
| Prkar1b |
A |
G |
5: 139,036,504 (GRCm39) |
I82T |
probably damaging |
Het |
| Prrc1 |
C |
T |
18: 57,496,469 (GRCm39) |
T140M |
probably damaging |
Het |
| Psg22 |
A |
C |
7: 18,453,589 (GRCm39) |
S95R |
probably damaging |
Het |
| Ptk6 |
T |
C |
2: 180,837,732 (GRCm39) |
T396A |
probably benign |
Het |
| Ptov1 |
A |
G |
7: 44,514,235 (GRCm39) |
S9P |
probably damaging |
Het |
| Sec13 |
T |
C |
6: 113,717,593 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
G |
A |
7: 127,384,229 (GRCm39) |
|
probably benign |
Het |
| Sf3a2 |
G |
A |
10: 80,640,388 (GRCm39) |
|
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,683,789 (GRCm39) |
Y341C |
possibly damaging |
Het |
| Slc27a4 |
T |
A |
2: 29,694,197 (GRCm39) |
L7Q |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,152,086 (GRCm39) |
M130V |
possibly damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,785,956 (GRCm39) |
|
probably null |
Het |
| Tex24 |
C |
T |
8: 27,834,936 (GRCm39) |
R155* |
probably null |
Het |
| Tgfb1 |
T |
A |
7: 25,387,355 (GRCm39) |
|
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,239,154 (GRCm39) |
D349G |
possibly damaging |
Het |
| Trappc13 |
C |
T |
13: 104,297,512 (GRCm39) |
V131I |
possibly damaging |
Het |
| Trim66 |
A |
G |
7: 109,056,749 (GRCm39) |
|
probably benign |
Het |
| Tspoap1 |
T |
C |
11: 87,666,988 (GRCm39) |
S1027P |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,386,001 (GRCm39) |
H2143Y |
possibly damaging |
Het |
| Vmn1r179 |
A |
C |
7: 23,627,818 (GRCm39) |
Y3S |
probably benign |
Het |
| Vmn1r231 |
G |
A |
17: 21,110,265 (GRCm39) |
Q217* |
probably null |
Het |
| Vmn1r62 |
T |
A |
7: 5,679,066 (GRCm39) |
L249* |
probably null |
Het |
| Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,773,148 (GRCm39) |
Q491R |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,605,391 (GRCm39) |
V925M |
possibly damaging |
Het |
| Zbtb6 |
A |
C |
2: 37,319,505 (GRCm39) |
L141W |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,584,500 (GRCm39) |
L615F |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCTCACAGTCTTTCTAGCCCAG -3'
(R):5'- TCAAGGCAAAGAGCCTGCTCAC -3'
Sequencing Primer
(F):5'- TAGCCCAGACCTTTCAAGGTAG -3'
(R):5'- CACCTGCTGAGTTTGTTCAAAGAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation