Incidental Mutation 'R8556:Scin'
| ID |
660125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scin
|
| Ensembl Gene |
ENSMUSG00000002565 |
| Gene Name |
scinderin |
| Synonyms |
adseverin |
| MMRRC Submission |
068519-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
40109768-40184227 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 40127593 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 null
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 null
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
A |
T |
11: 69,904,376 (GRCm39) |
M148K |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,779,094 (GRCm39) |
Y982C |
possibly damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,216,302 (GRCm39) |
I495T |
probably damaging |
Het |
| Ankfn1 |
A |
T |
11: 89,332,268 (GRCm39) |
I426K |
possibly damaging |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| Cdan1 |
C |
T |
2: 120,553,471 (GRCm39) |
V971M |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,944,252 (GRCm39) |
F1074S |
probably damaging |
Het |
| Crk |
A |
G |
11: 75,583,347 (GRCm39) |
K189R |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,895,268 (GRCm39) |
L1254P |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,955,289 (GRCm39) |
T658A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,212,457 (GRCm39) |
D1228G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,113,198 (GRCm39) |
Y209C |
probably benign |
Het |
| Edem3 |
G |
A |
1: 151,660,586 (GRCm39) |
V283I |
possibly damaging |
Het |
| Elavl1 |
A |
G |
8: 4,345,388 (GRCm39) |
S202P |
possibly damaging |
Het |
| Eprs1 |
G |
A |
1: 185,152,485 (GRCm39) |
|
probably null |
Het |
| Esp31 |
A |
T |
17: 38,951,942 (GRCm39) |
M1L |
probably benign |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Gm6370 |
T |
C |
5: 146,430,702 (GRCm39) |
S296P |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,871,350 (GRCm39) |
V2754A |
probably damaging |
Het |
| Hgsnat |
C |
T |
8: 26,443,308 (GRCm39) |
|
probably null |
Het |
| Hoxb6 |
G |
T |
11: 96,191,543 (GRCm39) |
R155L |
probably damaging |
Het |
| Igkv6-17 |
T |
C |
6: 70,348,746 (GRCm39) |
V39A |
probably damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,375,787 (GRCm39) |
L1363F |
probably damaging |
Het |
| Lcor |
TCA |
T |
19: 41,546,863 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
G |
4: 123,382,136 (GRCm39) |
S476P |
probably damaging |
Het |
| Mdh1b |
A |
C |
1: 63,750,141 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
A |
9: 18,552,233 (GRCm39) |
I4687L |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,053,902 (GRCm39) |
M672V |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,554,807 (GRCm39) |
F2614L |
probably benign |
Het |
| Or4p8 |
A |
T |
2: 88,727,382 (GRCm39) |
C186* |
probably null |
Het |
| Otop3 |
T |
A |
11: 115,235,782 (GRCm39) |
D471E |
probably benign |
Het |
| Pds5b |
G |
A |
5: 150,716,073 (GRCm39) |
M1077I |
probably benign |
Het |
| Plppr5 |
T |
A |
3: 117,465,679 (GRCm39) |
L310Q |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,707,038 (GRCm39) |
E1416K |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,271,044 (GRCm39) |
L1228P |
probably damaging |
Het |
| Rbm12 |
T |
C |
2: 155,938,481 (GRCm39) |
D597G |
probably damaging |
Het |
| Ret |
A |
G |
6: 118,146,149 (GRCm39) |
F777L |
probably damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,831,045 (GRCm39) |
V374D |
possibly damaging |
Het |
| Serpina1a |
T |
A |
12: 103,822,229 (GRCm39) |
K234N |
probably damaging |
Het |
| Snx20 |
T |
A |
8: 89,356,661 (GRCm39) |
M52L |
probably benign |
Het |
| Svs6 |
T |
C |
2: 164,159,485 (GRCm39) |
S83P |
possibly damaging |
Het |
| Tdp1 |
T |
C |
12: 99,857,527 (GRCm39) |
S29P |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,675,985 (GRCm39) |
N697S |
probably benign |
Het |
| Trgc4 |
A |
G |
13: 19,528,952 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,178,291 (GRCm39) |
I453V |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,762,747 (GRCm39) |
F2407L |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,745,849 (GRCm39) |
S158P |
probably damaging |
Het |
| Uaca |
A |
T |
9: 60,777,923 (GRCm39) |
K768M |
probably damaging |
Het |
| Wdr20rt |
G |
A |
12: 65,273,739 (GRCm39) |
V228I |
probably benign |
Het |
| Zbtb7b |
T |
C |
3: 89,300,444 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ACAGTCATTTGTATGTGCATGGTC -3'
(R):5'- CAACAACATTCTCAGAACTGATGAG -3'
Sequencing Primer
(F):5'- ATGTGCATGGTCCATGGCAC -3'
(R):5'- TCTCAGAACTGATGAGATATTGTGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation