Incidental Mutation 'R9457:Scin'
| ID |
714670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scin
|
| Ensembl Gene |
ENSMUSG00000002565 |
| Gene Name |
scinderin |
| Synonyms |
adseverin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9457 (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 40154957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 212
(E212G)
|
| 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: E212G
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: E212G
| 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 damaging
Transcript: ENSMUST00000078481
AA Change: E212G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565
AA Change: E212G
| 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: 99.1%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
T |
C |
10: 115,414,236 (GRCm39) |
L54P |
unknown |
Het |
| Ablim3 |
A |
G |
18: 61,978,920 (GRCm39) |
S204P |
probably benign |
Het |
| Acadl |
A |
G |
1: 66,892,400 (GRCm39) |
V141A |
probably benign |
Het |
| Ace3 |
A |
G |
11: 105,885,687 (GRCm39) |
D31G |
probably benign |
Het |
| Acte1 |
T |
C |
7: 143,437,713 (GRCm39) |
V137A |
possibly damaging |
Het |
| Adam11 |
T |
G |
11: 102,660,724 (GRCm39) |
V85G |
probably benign |
Het |
| Adarb1 |
A |
T |
10: 77,157,982 (GRCm39) |
M155K |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 78,111,415 (GRCm39) |
T376M |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,979,310 (GRCm39) |
T668K |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,659 (GRCm39) |
E717G |
probably damaging |
Het |
| Cdh17 |
T |
A |
4: 11,771,329 (GRCm39) |
I37N |
probably damaging |
Het |
| Cfap99 |
T |
G |
5: 34,458,741 (GRCm39) |
F45L |
probably benign |
Het |
| Chsy1 |
C |
A |
7: 65,822,148 (GRCm39) |
H794Q |
probably benign |
Het |
| Clec4a3 |
G |
A |
6: 122,931,045 (GRCm39) |
V45I |
probably benign |
Het |
| Clic3 |
G |
A |
2: 25,347,730 (GRCm39) |
V32I |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,531,584 (GRCm39) |
D740E |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,426,004 (GRCm39) |
V1062I |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,431,973 (GRCm39) |
|
probably null |
Het |
| Cyp2j11 |
C |
T |
4: 96,195,596 (GRCm39) |
V367I |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,993,650 (GRCm39) |
A821T |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,786,572 (GRCm39) |
E107K |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,843,894 (GRCm39) |
V484A |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,308,940 (GRCm39) |
T354A |
probably benign |
Het |
| Fkbp6 |
T |
C |
5: 135,378,486 (GRCm39) |
D54G |
probably benign |
Het |
| Gm4787 |
T |
A |
12: 81,426,020 (GRCm39) |
E46V |
probably damaging |
Het |
| Gm47995 |
A |
G |
1: 151,074,226 (GRCm39) |
T10A |
possibly damaging |
Het |
| Gnb1l |
T |
A |
16: 18,359,745 (GRCm39) |
I50N |
probably damaging |
Het |
| Gphb5 |
A |
T |
12: 75,462,523 (GRCm39) |
V22D |
probably damaging |
Het |
| Gstt4 |
C |
T |
10: 75,650,959 (GRCm39) |
C221Y |
probably benign |
Het |
| Hmces |
T |
C |
6: 87,910,256 (GRCm39) |
V222A |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,702 (GRCm39) |
D62E |
probably benign |
Het |
| Kcnmb2 |
T |
A |
3: 32,236,018 (GRCm39) |
V89E |
probably benign |
Het |
| Kif23 |
T |
A |
9: 61,851,507 (GRCm39) |
N63I |
probably benign |
Het |
| Lamc2 |
T |
C |
1: 153,015,600 (GRCm39) |
M578V |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,835,927 (GRCm39) |
C1335S |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,862,330 (GRCm39) |
E2622G |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,532,793 (GRCm39) |
H47L |
probably benign |
Het |
| Mical2 |
A |
G |
7: 112,010,665 (GRCm39) |
K618R |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,556,586 (GRCm39) |
I92T |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,626,184 (GRCm39) |
I223V |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,481,594 (GRCm39) |
I306N |
probably benign |
Het |
| Myo3b |
T |
A |
2: 69,925,553 (GRCm39) |
S35T |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,634,347 (GRCm39) |
V700E |
probably damaging |
Het |
| Oit3 |
T |
A |
10: 59,277,505 (GRCm39) |
M1L |
unknown |
Het |
| Or4c1 |
A |
T |
2: 89,133,075 (GRCm39) |
I287N |
probably damaging |
Het |
| Or51l14 |
T |
A |
7: 103,100,618 (GRCm39) |
F25I |
probably benign |
Het |
| Or8k17 |
A |
T |
2: 86,066,816 (GRCm39) |
I114K |
probably damaging |
Het |
| Peg3 |
T |
G |
7: 6,710,998 (GRCm39) |
D1408A |
probably damaging |
Het |
| Plaa |
A |
C |
4: 94,475,120 (GRCm39) |
S201R |
possibly damaging |
Het |
| Potefam1 |
A |
T |
2: 111,000,631 (GRCm39) |
M196K |
unknown |
Het |
| Psmd5 |
A |
G |
2: 34,744,338 (GRCm39) |
S395P |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,176,474 (GRCm39) |
I1701V |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,312,303 (GRCm39) |
H181R |
probably benign |
Het |
| Rnf32 |
G |
A |
5: 29,411,184 (GRCm39) |
A157T |
probably damaging |
Het |
| Rrad |
T |
A |
8: 105,356,359 (GRCm39) |
|
probably null |
Het |
| Samm50 |
T |
A |
15: 84,092,042 (GRCm39) |
L339Q |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,939,148 (GRCm39) |
D146G |
probably damaging |
Het |
| Slc19a1 |
G |
A |
10: 76,885,605 (GRCm39) |
D502N |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,362,432 (GRCm39) |
S839P |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,704,141 (GRCm39) |
D764G |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,829,884 (GRCm39) |
A590V |
probably damaging |
Het |
| Slfn8 |
G |
T |
11: 82,908,532 (GRCm39) |
H4N |
probably benign |
Het |
| Smad9 |
T |
A |
3: 54,696,756 (GRCm39) |
F274I |
possibly damaging |
Het |
| Snx4 |
A |
G |
16: 33,106,380 (GRCm39) |
E271G |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,122,573 (GRCm39) |
V3479A |
probably benign |
Het |
| Tektip1 |
C |
A |
10: 81,201,611 (GRCm39) |
V4L |
probably benign |
Het |
| Thap4 |
G |
A |
1: 93,678,028 (GRCm39) |
R253* |
probably null |
Het |
| Tmem65 |
T |
A |
15: 58,662,028 (GRCm39) |
I144F |
|
Het |
| Tnrc6a |
G |
A |
7: 122,778,958 (GRCm39) |
R1223Q |
probably benign |
Het |
| Traf7 |
CA |
CAA |
17: 24,746,737 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,747,226 (GRCm39) |
Y1424C |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,763,478 (GRCm39) |
Y2457N |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,508 (GRCm39) |
S251P |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,469 (GRCm39) |
E273V |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,181,156 (GRCm39) |
D466G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,345,976 (GRCm39) |
V2739A |
probably benign |
Het |
| Zc3h4 |
C |
T |
7: 16,168,675 (GRCm39) |
S1003F |
unknown |
Het |
| Zyg11a |
A |
T |
4: 108,075,102 (GRCm39) |
H6Q |
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 |
|
|
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 |
|
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'- TTGATAATATGTTTGATCCCACCCC -3'
(R):5'- ACTAAGGCTGAAAGTCCTCTG -3'
Sequencing Primer
(F):5'- CTGTGTGTCTCTCTAACTTTGTG -3'
(R):5'- GAAAGTCCTCTGTGTATATTTCAGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation