Incidental Mutation 'R9063:Scin'
| ID |
689112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scin
|
| Ensembl Gene |
ENSMUSG00000002565 |
| Gene Name |
scinderin |
| Synonyms |
adseverin |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
40109768-40184227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40134336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 236
(D236G)
|
| 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: D236G
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: D236G
| 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 |
possibly damaging
Transcript: ENSMUST00000078481
AA Change: D236G
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565
AA Change: D236G
| 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: 99.0%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
T |
G |
7: 115,703,660 (GRCm39) |
S178A |
probably benign |
Het |
| Add3 |
T |
C |
19: 53,222,302 (GRCm39) |
L303P |
probably damaging |
Het |
| Agr2 |
T |
A |
12: 36,053,898 (GRCm39) |
*176K |
probably null |
Het |
| Apobr |
C |
T |
7: 126,185,920 (GRCm39) |
T477I |
probably benign |
Het |
| Cdca7l |
G |
A |
12: 117,838,536 (GRCm39) |
V336M |
probably damaging |
Het |
| Cep63 |
T |
G |
9: 102,496,227 (GRCm39) |
H18P |
unknown |
Het |
| Copa |
A |
G |
1: 171,944,529 (GRCm39) |
D838G |
probably benign |
Het |
| Cspg4 |
G |
T |
9: 56,795,687 (GRCm39) |
V1141L |
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,497,002 (GRCm39) |
T146A |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,866,264 (GRCm39) |
I206L |
probably benign |
Het |
| Emsy |
C |
T |
7: 98,295,684 (GRCm39) |
D73N |
probably damaging |
Het |
| Esr2 |
A |
T |
12: 76,168,590 (GRCm39) |
Y540N |
probably benign |
Het |
| Exoc7 |
C |
A |
11: 116,180,101 (GRCm39) |
V668L |
probably benign |
Het |
| Fcgbp |
C |
T |
7: 27,791,277 (GRCm39) |
T846I |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,153,772 (GRCm39) |
E418G |
probably damaging |
Het |
| Fryl |
G |
A |
5: 73,238,346 (GRCm39) |
R1467C |
possibly damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,249,558 (GRCm39) |
I520T |
probably benign |
Het |
| Gfod1 |
A |
G |
13: 43,354,280 (GRCm39) |
C232R |
probably benign |
Het |
| Gpr61 |
T |
C |
3: 108,057,555 (GRCm39) |
R369G |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,122,429 (GRCm39) |
Y423C |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Jmy |
T |
C |
13: 93,635,580 (GRCm39) |
R79G |
probably benign |
Het |
| Kcnn4 |
T |
A |
7: 24,076,934 (GRCm39) |
V161E |
probably damaging |
Het |
| Kif15 |
T |
A |
9: 122,833,706 (GRCm39) |
I1040N |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,654 (GRCm39) |
L543S |
probably damaging |
Het |
| Kpna2 |
A |
G |
11: 106,883,489 (GRCm39) |
I81T |
probably benign |
Het |
| Krt12 |
A |
G |
11: 99,307,757 (GRCm39) |
S444P |
probably benign |
Het |
| Lmnb2 |
C |
T |
10: 80,742,005 (GRCm39) |
V29M |
probably benign |
Het |
| Lmod2 |
T |
C |
6: 24,603,364 (GRCm39) |
V113A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,231,838 (GRCm39) |
T1211A |
|
Het |
| Lrrc8d |
T |
C |
5: 105,961,959 (GRCm39) |
S790P |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,482,878 (GRCm39) |
V613A |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,653 (GRCm39) |
N142S |
probably benign |
Het |
| Mgll |
G |
A |
6: 88,802,690 (GRCm39) |
V282I |
possibly damaging |
Het |
| Mief2 |
G |
A |
11: 60,622,314 (GRCm39) |
E295K |
probably damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,120,567 (GRCm39) |
H479L |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,913,118 (GRCm39) |
N358K |
probably benign |
Het |
| Mzf1 |
T |
G |
7: 12,787,005 (GRCm39) |
K101Q |
probably damaging |
Het |
| Ncbp3 |
T |
A |
11: 72,964,253 (GRCm39) |
L401Q |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,503 (GRCm39) |
C237R |
possibly damaging |
Het |
| Nlrp9a |
T |
G |
7: 26,273,291 (GRCm39) |
N976K |
possibly damaging |
Het |
| Nol11 |
A |
G |
11: 107,064,240 (GRCm39) |
V524A |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,069,857 (GRCm39) |
Y331C |
possibly damaging |
Het |
| Nsmf |
A |
T |
2: 24,952,622 (GRCm39) |
H149L |
probably benign |
Het |
| Olfm3 |
T |
C |
3: 114,914,582 (GRCm39) |
V231A |
probably benign |
Het |
| Or1l4b |
A |
T |
2: 37,036,646 (GRCm39) |
M141L |
probably benign |
Het |
| Or51a6 |
A |
G |
7: 102,604,446 (GRCm39) |
S121P |
probably benign |
Het |
| Or55b4 |
T |
C |
7: 102,133,931 (GRCm39) |
Y132C |
probably damaging |
Het |
| Pcdhgb5 |
T |
A |
18: 37,864,739 (GRCm39) |
F178Y |
probably damaging |
Het |
| Plk2 |
T |
A |
13: 110,532,920 (GRCm39) |
S160R |
possibly damaging |
Het |
| Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
| Ppp1cc |
A |
G |
5: 122,306,279 (GRCm39) |
N33D |
probably benign |
Het |
| Ptpn23 |
T |
C |
9: 110,218,693 (GRCm39) |
E499G |
possibly damaging |
Het |
| Pwp1 |
A |
G |
10: 85,720,431 (GRCm39) |
H356R |
probably benign |
Het |
| Rbsn |
G |
T |
6: 92,171,000 (GRCm39) |
T307K |
probably benign |
Het |
| Rnf19a |
G |
A |
15: 36,265,615 (GRCm39) |
Q161* |
probably null |
Het |
| Setd1a |
G |
A |
7: 127,385,558 (GRCm39) |
R755H |
possibly damaging |
Het |
| Sik3 |
C |
T |
9: 46,123,735 (GRCm39) |
T1178I |
probably benign |
Het |
| Slc49a3 |
A |
G |
5: 108,590,103 (GRCm39) |
L433P |
probably damaging |
Het |
| Tex26 |
C |
T |
5: 149,393,826 (GRCm39) |
R272C |
probably damaging |
Het |
| Trim60 |
T |
A |
8: 65,453,465 (GRCm39) |
K261N |
possibly damaging |
Het |
| Tspan9 |
A |
G |
6: 127,944,072 (GRCm39) |
I76T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,588,833 (GRCm39) |
Y21412F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,710,907 (GRCm39) |
I8409N |
unknown |
Het |
| Unc80 |
T |
C |
1: 66,645,816 (GRCm39) |
|
probably null |
Het |
| Ush2a |
A |
T |
1: 187,995,457 (GRCm39) |
Q76L |
probably benign |
Het |
| Usp1 |
G |
A |
4: 98,819,389 (GRCm39) |
V284I |
probably benign |
Het |
| Usp31 |
A |
G |
7: 121,306,466 (GRCm39) |
V4A |
probably benign |
Het |
| Vmn2r88 |
G |
A |
14: 51,648,329 (GRCm39) |
|
probably benign |
Het |
| Zfp959 |
G |
A |
17: 56,204,221 (GRCm39) |
R86K |
probably benign |
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 |
|
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 |
|
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'- CCCACAAAATGTTTTATTCCACAAAGG -3'
(R):5'- GACCTATGAGAAGAGGCCTGTG -3'
Sequencing Primer
(F):5'- CAAGACAGGGTTTCTCTGTATAGCC -3'
(R):5'- CCTATGAGAAGAGGCCTGTGATATAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation