Incidental Mutation 'R7431:Scin'
| ID |
576493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scin
|
| Ensembl Gene |
ENSMUSG00000002565 |
| Gene Name |
scinderin |
| Synonyms |
adseverin |
| MMRRC Submission |
045509-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7431 (G1)
|
| Quality Score |
178.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
40109768-40184227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40183921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 63
(H63Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002640]
[ENSMUST00000078481]
|
| AlphaFold |
Q60604 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002640
AA Change: H63Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: H63Y
| 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: H63Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565
AA Change: H63Y
| 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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
97% (77/79) |
| 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 |
|---|
| Abca9 |
CA |
C |
11: 110,018,252 (GRCm39) |
|
probably null |
Het |
| Abcf3 |
G |
T |
16: 20,377,539 (GRCm39) |
R510L |
probably benign |
Het |
| Abcg4 |
T |
A |
9: 44,185,997 (GRCm39) |
I625F |
possibly damaging |
Het |
| Adam22 |
A |
T |
5: 8,142,818 (GRCm39) |
S806T |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,010,129 (GRCm39) |
I718V |
probably benign |
Het |
| Adgb |
A |
T |
10: 10,267,699 (GRCm39) |
|
probably null |
Het |
| Aldoart1 |
T |
A |
4: 72,769,678 (GRCm39) |
K377* |
probably null |
Het |
| Apc2 |
T |
A |
10: 80,138,017 (GRCm39) |
V100E |
possibly damaging |
Het |
| Asxl3 |
T |
G |
18: 22,650,010 (GRCm39) |
D666E |
probably damaging |
Het |
| Atg4c |
A |
T |
4: 99,109,632 (GRCm39) |
I200F |
possibly damaging |
Het |
| Atp1a4 |
A |
G |
1: 172,078,474 (GRCm39) |
F255L |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,970,463 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
A |
T |
6: 119,221,237 (GRCm39) |
T250S |
probably damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,273 (GRCm39) |
H10R |
probably benign |
Het |
| Ccng1 |
G |
A |
11: 40,644,745 (GRCm39) |
R51W |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,868,248 (GRCm39) |
E366G |
possibly damaging |
Het |
| Clca4b |
A |
T |
3: 144,616,894 (GRCm39) |
S919T |
probably benign |
Het |
| Col5a3 |
T |
C |
9: 20,682,131 (GRCm39) |
*1740W |
probably null |
Het |
| Col6a5 |
A |
T |
9: 105,805,468 (GRCm39) |
I1146K |
unknown |
Het |
| Cpxm1 |
T |
C |
2: 130,235,966 (GRCm39) |
T399A |
probably benign |
Het |
| Cpz |
T |
C |
5: 35,668,486 (GRCm39) |
T375A |
probably benign |
Het |
| Cyp2b13 |
T |
A |
7: 25,760,976 (GRCm39) |
V11D |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,993,906 (GRCm39) |
T189A |
probably benign |
Het |
| Desi2 |
C |
T |
1: 178,084,007 (GRCm39) |
Q52* |
probably null |
Het |
| Dhx15 |
A |
G |
5: 52,319,953 (GRCm39) |
V418A |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,650,967 (GRCm39) |
M978L |
probably damaging |
Het |
| Dpagt1 |
T |
A |
9: 44,237,384 (GRCm39) |
C17* |
probably null |
Het |
| Dph5 |
A |
T |
3: 115,686,381 (GRCm39) |
K52N |
possibly damaging |
Het |
| Dpp4 |
G |
T |
2: 62,182,582 (GRCm39) |
N566K |
probably benign |
Het |
| Elavl4 |
T |
C |
4: 110,083,830 (GRCm39) |
Y94C |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,199,927 (GRCm39) |
T1049I |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,063,306 (GRCm39) |
Y4421N |
possibly damaging |
Het |
| Fcrl2 |
C |
A |
3: 87,166,233 (GRCm39) |
A181S |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,984,219 (GRCm39) |
I135V |
possibly damaging |
Het |
| Glg1 |
G |
T |
8: 111,887,386 (GRCm39) |
N456K |
unknown |
Het |
| Gm10228 |
A |
G |
16: 88,838,101 (GRCm39) |
S68P |
unknown |
Het |
| Golga4 |
G |
A |
9: 118,388,799 (GRCm39) |
E1974K |
probably damaging |
Het |
| Heatr9 |
G |
T |
11: 83,410,094 (GRCm39) |
P49Q |
probably damaging |
Het |
| Hmgxb3 |
A |
T |
18: 61,280,517 (GRCm39) |
V662D |
probably damaging |
Het |
| Hs3st4 |
T |
C |
7: 123,582,513 (GRCm39) |
L37P |
probably damaging |
Het |
| Ifi205 |
A |
T |
1: 173,855,943 (GRCm39) |
M29K |
probably benign |
Het |
| Igkv1-35 |
C |
T |
6: 69,987,988 (GRCm39) |
V103M |
probably damaging |
Het |
| Klf13 |
T |
A |
7: 63,541,504 (GRCm39) |
K208* |
probably null |
Het |
| Klhl36 |
A |
G |
8: 120,597,121 (GRCm39) |
N274S |
probably benign |
Het |
| Mosmo |
T |
A |
7: 120,329,873 (GRCm39) |
L165I |
probably benign |
Het |
| Mtcl1 |
G |
A |
17: 66,649,901 (GRCm39) |
Q1855* |
probably null |
Het |
| Muc16 |
A |
G |
9: 18,519,289 (GRCm39) |
V208A |
|
Het |
| Nin |
T |
G |
12: 70,124,997 (GRCm39) |
R108S |
|
Het |
| Odad1 |
T |
G |
7: 45,578,670 (GRCm39) |
L81R |
probably damaging |
Het |
| Or13c7d |
T |
C |
4: 43,770,882 (GRCm39) |
N43S |
probably damaging |
Het |
| Polr1a |
G |
A |
6: 71,903,643 (GRCm39) |
V319I |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,320,282 (GRCm39) |
V337A |
possibly damaging |
Het |
| Prkar2b |
A |
T |
12: 32,013,150 (GRCm39) |
|
probably null |
Het |
| R3hdm2 |
T |
A |
10: 127,294,016 (GRCm39) |
M170K |
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,354,528 (GRCm39) |
I919T |
possibly damaging |
Het |
| Rimkla |
A |
G |
4: 119,335,008 (GRCm39) |
M125T |
probably benign |
Het |
| Sag |
T |
A |
1: 87,749,059 (GRCm39) |
F153I |
possibly damaging |
Het |
| Sbf2 |
G |
T |
7: 109,950,957 (GRCm39) |
D1163E |
probably damaging |
Het |
| Scgb2b24 |
T |
C |
7: 33,438,674 (GRCm39) |
I13V |
probably benign |
Het |
| Sele |
A |
G |
1: 163,879,189 (GRCm39) |
T275A |
probably damaging |
Het |
| Slc22a15 |
T |
A |
3: 101,805,256 (GRCm39) |
T144S |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,749,092 (GRCm39) |
K650I |
probably benign |
Het |
| Slc9c1 |
G |
T |
16: 45,413,847 (GRCm39) |
V992F |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,963,031 (GRCm39) |
T393S |
unknown |
Het |
| Taf15 |
G |
A |
11: 83,395,779 (GRCm39) |
D495N |
unknown |
Het |
| Tas2r144 |
T |
A |
6: 42,192,908 (GRCm39) |
I216N |
probably damaging |
Het |
| Tbccd1 |
G |
T |
16: 22,644,563 (GRCm39) |
P271Q |
probably benign |
Het |
| Tcf4 |
C |
A |
18: 69,480,249 (GRCm39) |
|
probably null |
Het |
| Thap4 |
A |
T |
1: 93,678,223 (GRCm39) |
S188T |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,191,470 (GRCm39) |
V493A |
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,850,278 (GRCm39) |
V1262A |
possibly damaging |
Het |
| Tspan2 |
T |
A |
3: 102,657,107 (GRCm39) |
W35R |
probably damaging |
Het |
| Usp39 |
G |
T |
6: 72,313,251 (GRCm39) |
T313N |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,327,306 (GRCm39) |
L638Q |
probably damaging |
Het |
| Vps29 |
T |
C |
5: 122,492,541 (GRCm39) |
V2A |
probably benign |
Het |
| Wrap53 |
A |
G |
11: 69,469,313 (GRCm39) |
F148L |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,897,712 (GRCm39) |
Y404C |
probably damaging |
Het |
| Zrsr2-ps1 |
A |
G |
11: 22,923,580 (GRCm39) |
E118G |
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 |
|
|
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'- AGAAGTGGTTTGGTCAAGACTGATG -3'
(R):5'- CTTTAAAGCCGGGAGAGCAG -3'
Sequencing Primer
(F):5'- GACTGATGAGTCCTGGATGAC -3'
(R):5'- TCAGGGCACGGATCAAGTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation