Incidental Mutation 'R7127:Scin'
ID |
552410 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scin
|
Ensembl Gene |
ENSMUSG00000002565 |
Gene Name |
scinderin |
Synonyms |
adseverin |
MMRRC Submission |
045246-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7127 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
40109768-40184227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40155071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 174
(I174T)
|
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: I174T
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000002640 Gene: ENSMUSG00000002565 AA Change: I174T
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: I174T
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000077573 Gene: ENSMUSG00000002565 AA Change: I174T
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: 98.9%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
C |
T |
7: 119,931,825 (GRCm39) |
T26I |
probably benign |
Het |
Adam5 |
A |
T |
8: 25,300,797 (GRCm39) |
I244N |
probably damaging |
Het |
Adam7 |
A |
G |
14: 68,752,218 (GRCm39) |
|
probably null |
Het |
Aox4 |
T |
A |
1: 58,268,033 (GRCm39) |
N204K |
probably benign |
Het |
Arl13b |
C |
T |
16: 62,622,102 (GRCm39) |
G397D |
probably damaging |
Het |
AU041133 |
T |
C |
10: 81,986,700 (GRCm39) |
F118L |
probably benign |
Het |
Brinp1 |
C |
T |
4: 68,711,260 (GRCm39) |
R316H |
probably benign |
Het |
Cabcoco1 |
C |
T |
10: 68,272,160 (GRCm39) |
V268I |
probably benign |
Het |
Car15 |
T |
C |
16: 17,656,060 (GRCm39) |
|
probably benign |
Het |
Ccdc185 |
G |
T |
1: 182,576,421 (GRCm39) |
D89E |
possibly damaging |
Het |
Cckar |
T |
A |
5: 53,863,817 (GRCm39) |
Y48F |
probably damaging |
Het |
Cdyl |
T |
A |
13: 36,040,651 (GRCm39) |
S282T |
probably benign |
Het |
Clca3a1 |
T |
C |
3: 144,711,806 (GRCm39) |
T730A |
probably damaging |
Het |
Cracr2b |
T |
C |
7: 141,045,695 (GRCm39) |
S318P |
possibly damaging |
Het |
Depdc1b |
T |
C |
13: 108,460,462 (GRCm39) |
F24S |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,122,430 (GRCm39) |
G565D |
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,003,529 (GRCm39) |
Y1073* |
probably null |
Het |
Epg5 |
A |
T |
18: 78,072,140 (GRCm39) |
N2384I |
probably damaging |
Het |
Fam171b |
A |
G |
2: 83,710,110 (GRCm39) |
D594G |
probably benign |
Het |
Flad1 |
A |
G |
3: 89,310,725 (GRCm39) |
Y441H |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,636,703 (GRCm39) |
T2150A |
probably benign |
Het |
Fnta |
C |
A |
8: 26,497,231 (GRCm39) |
R206L |
probably damaging |
Het |
Gadd45b |
A |
T |
10: 80,766,999 (GRCm39) |
M95L |
probably benign |
Het |
Gbp8 |
A |
T |
5: 105,165,578 (GRCm39) |
H358Q |
probably benign |
Het |
Glipr1l3 |
C |
A |
10: 111,983,995 (GRCm39) |
G157V |
probably damaging |
Het |
Hoxc13 |
T |
C |
15: 102,829,903 (GRCm39) |
I94T |
possibly damaging |
Het |
Hunk |
A |
G |
16: 90,272,779 (GRCm39) |
D361G |
probably damaging |
Het |
Igkv3-4 |
T |
A |
6: 70,649,155 (GRCm39) |
Y51* |
probably null |
Het |
Kif26a |
C |
T |
12: 112,144,579 (GRCm39) |
P1611L |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,374,314 (GRCm39) |
L1559P |
probably damaging |
Het |
Lrrc8d |
T |
C |
5: 105,960,829 (GRCm39) |
V413A |
probably damaging |
Het |
Med6 |
C |
T |
12: 81,635,774 (GRCm39) |
R86Q |
probably damaging |
Het |
Myrf |
A |
T |
19: 10,192,705 (GRCm39) |
S605T |
probably benign |
Het |
Or6c66b |
T |
A |
10: 129,376,936 (GRCm39) |
C177S |
probably damaging |
Het |
Plk3 |
A |
T |
4: 116,987,767 (GRCm39) |
V429E |
probably benign |
Het |
Plrg1 |
C |
T |
3: 82,967,222 (GRCm39) |
P131L |
probably damaging |
Het |
Plscr4 |
C |
T |
9: 92,372,831 (GRCm39) |
R318* |
probably null |
Het |
Rab34 |
A |
T |
11: 78,082,056 (GRCm39) |
K152* |
probably null |
Het |
Rasef |
A |
T |
4: 73,662,369 (GRCm39) |
S194T |
probably damaging |
Het |
Rcc1 |
A |
G |
4: 132,062,107 (GRCm39) |
S269P |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,229,443 (GRCm39) |
F830L |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
C |
T |
13: 11,670,599 (GRCm39) |
V3466M |
probably damaging |
Het |
Serpinb8 |
A |
G |
1: 107,525,200 (GRCm39) |
M1V |
probably null |
Het |
Smok3c |
A |
T |
5: 138,062,971 (GRCm39) |
I153F |
probably damaging |
Het |
Spen |
G |
A |
4: 141,203,419 (GRCm39) |
S1736L |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,426,446 (GRCm39) |
M155K |
probably benign |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Sun2 |
T |
C |
15: 79,612,100 (GRCm39) |
I528M |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
Taok2 |
G |
T |
7: 126,466,326 (GRCm39) |
A831E |
possibly damaging |
Het |
Tas2r126 |
T |
C |
6: 42,411,739 (GRCm39) |
F91L |
probably damaging |
Het |
Tas2r140 |
A |
G |
6: 133,031,922 (GRCm39) |
S279P |
possibly damaging |
Het |
Tiam1 |
A |
T |
16: 89,657,148 (GRCm39) |
L696H |
probably damaging |
Het |
Trank1 |
T |
G |
9: 111,194,864 (GRCm39) |
S963A |
possibly damaging |
Het |
Trf |
A |
G |
9: 103,102,326 (GRCm39) |
V184A |
probably benign |
Het |
Ttll13 |
T |
A |
7: 79,903,406 (GRCm39) |
M231K |
possibly damaging |
Het |
Tuba1a |
T |
G |
15: 98,849,455 (GRCm39) |
T41P |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,478,104 (GRCm39) |
Q3573R |
probably damaging |
Het |
Zfp141 |
G |
A |
7: 42,124,853 (GRCm39) |
H540Y |
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 |
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'- TCAGACTTTAACAGACAAATGCCA -3'
(R):5'- TTGTTTAGCTCTGTGCCCCA -3'
Sequencing Primer
(F):5'- CAATACCTTCATGAGCTCTGATGG -3'
(R):5'- TGACAGTGTCTTATGCCTTACAG -3'
|
Posted On |
2019-05-15 |