Incidental Mutation 'R1570:Scin'
| ID |
177208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scin
|
| Ensembl Gene |
ENSMUSG00000002565 |
| Gene Name |
scinderin |
| Synonyms |
adseverin |
| MMRRC Submission |
039609-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1570 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
40109768-40184227 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 40134380 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 benign
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 benign
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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.0%
|
| Validation Efficiency |
93% (77/83) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobec1 |
A |
G |
6: 122,568,044 (GRCm39) |
|
probably null |
Het |
| Arhgap21 |
G |
T |
2: 20,885,651 (GRCm39) |
Q348K |
probably benign |
Het |
| Arl5c |
A |
G |
11: 97,883,213 (GRCm39) |
V129A |
probably benign |
Het |
| Armh1 |
A |
G |
4: 117,087,189 (GRCm39) |
S159P |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,034,309 (GRCm39) |
L82P |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,163,009 (GRCm39) |
A436T |
possibly damaging |
Het |
| Btc |
T |
C |
5: 91,550,576 (GRCm39) |
D2G |
unknown |
Het |
| C1s2 |
G |
A |
6: 124,602,723 (GRCm39) |
T490M |
probably benign |
Het |
| Caap1 |
C |
T |
4: 94,444,814 (GRCm39) |
G43D |
probably benign |
Het |
| Ccr5 |
T |
C |
9: 123,925,000 (GRCm39) |
V201A |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdhr5 |
C |
A |
7: 140,851,682 (GRCm39) |
G541C |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,583,367 (GRCm39) |
I1004T |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,763,170 (GRCm39) |
M2332L |
probably benign |
Het |
| Clk1 |
T |
A |
1: 58,453,584 (GRCm39) |
H334L |
probably benign |
Het |
| Cyp4b1 |
G |
A |
4: 115,493,160 (GRCm39) |
S228F |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,003,156 (GRCm39) |
N883D |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,176,926 (GRCm39) |
L11P |
probably benign |
Het |
| Ephx4 |
A |
G |
5: 107,567,717 (GRCm39) |
E225G |
probably damaging |
Het |
| Erich6 |
C |
T |
3: 58,538,080 (GRCm39) |
|
probably null |
Het |
| Espl1 |
A |
G |
15: 102,206,802 (GRCm39) |
T89A |
probably damaging |
Het |
| Evi2 |
T |
A |
11: 79,407,076 (GRCm39) |
K166N |
possibly damaging |
Het |
| Glrx5 |
A |
G |
12: 104,999,127 (GRCm39) |
T57A |
possibly damaging |
Het |
| Gnptab |
T |
A |
10: 88,255,316 (GRCm39) |
V222E |
probably damaging |
Het |
| Gpr155 |
T |
C |
2: 73,200,382 (GRCm39) |
Y375C |
possibly damaging |
Het |
| Hsd11b1 |
C |
G |
1: 192,922,635 (GRCm39) |
E141Q |
probably damaging |
Het |
| Ildr2 |
T |
C |
1: 166,131,154 (GRCm39) |
F337L |
probably damaging |
Het |
| Ino80 |
C |
T |
2: 119,277,509 (GRCm39) |
R322Q |
possibly damaging |
Het |
| Lcp2 |
A |
G |
11: 34,039,601 (GRCm39) |
D467G |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,459,556 (GRCm39) |
I229T |
probably damaging |
Het |
| Lnpep |
A |
T |
17: 17,799,418 (GRCm39) |
M79K |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,610,999 (GRCm39) |
Q564R |
possibly damaging |
Het |
| Lpin2 |
T |
A |
17: 71,552,176 (GRCm39) |
L794* |
probably null |
Het |
| Lrrc37 |
A |
G |
11: 103,500,764 (GRCm39) |
Y597H |
possibly damaging |
Het |
| Lrrc45 |
T |
C |
11: 120,610,935 (GRCm39) |
|
probably null |
Het |
| Mtus1 |
A |
G |
8: 41,529,278 (GRCm39) |
S751P |
probably damaging |
Het |
| Nbr1 |
T |
C |
11: 101,455,656 (GRCm39) |
|
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,599,749 (GRCm39) |
F592S |
possibly damaging |
Het |
| Nup133 |
T |
A |
8: 124,675,915 (GRCm39) |
M1L |
possibly damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,285 (GRCm39) |
V146A |
probably benign |
Het |
| Or3a10 |
A |
C |
11: 73,935,633 (GRCm39) |
F156V |
possibly damaging |
Het |
| Or4n4 |
T |
G |
14: 50,518,981 (GRCm39) |
H243P |
probably damaging |
Het |
| Or4p8 |
A |
C |
2: 88,727,290 (GRCm39) |
I217S |
probably damaging |
Het |
| Or52b4i |
C |
A |
7: 102,191,177 (GRCm39) |
H11Q |
probably damaging |
Het |
| Or8i2 |
A |
T |
2: 86,852,616 (GRCm39) |
S91T |
probably benign |
Het |
| Otud7b |
T |
C |
3: 96,063,208 (GRCm39) |
C816R |
probably damaging |
Het |
| Pi4k2a |
T |
C |
19: 42,089,083 (GRCm39) |
V148A |
probably benign |
Het |
| Pih1d2 |
T |
C |
9: 50,532,479 (GRCm39) |
M195T |
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,826,060 (GRCm39) |
E311G |
probably benign |
Het |
| Plpp6 |
T |
C |
19: 28,942,178 (GRCm39) |
F260L |
probably damaging |
Het |
| R3hcc1l |
A |
T |
19: 42,570,393 (GRCm39) |
T663S |
probably damaging |
Het |
| Rnf25 |
T |
C |
1: 74,634,426 (GRCm39) |
E199G |
probably damaging |
Het |
| Serpinb1c |
A |
T |
13: 33,080,973 (GRCm39) |
S37T |
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,339,639 (GRCm39) |
D259G |
probably damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,752,620 (GRCm39) |
K805R |
probably damaging |
Het |
| Sox6 |
C |
A |
7: 115,376,358 (GRCm39) |
G125W |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,100,174 (GRCm39) |
I64V |
probably benign |
Het |
| Spmip10 |
T |
A |
18: 56,727,606 (GRCm39) |
D101E |
probably benign |
Het |
| St6galnac1 |
A |
G |
11: 116,657,474 (GRCm39) |
|
probably benign |
Het |
| Sult1c2 |
T |
C |
17: 54,143,991 (GRCm39) |
I105V |
probably benign |
Het |
| Tacr3 |
T |
G |
3: 134,535,517 (GRCm39) |
S162A |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,721,549 (GRCm39) |
S1013P |
probably damaging |
Het |
| Zbtb11 |
C |
A |
16: 55,811,178 (GRCm39) |
N445K |
probably benign |
Het |
| Zfp423 |
A |
C |
8: 88,509,186 (GRCm39) |
V261G |
probably benign |
Het |
| Zfp59 |
T |
C |
7: 27,553,016 (GRCm39) |
V156A |
probably benign |
Het |
| Zscan2 |
C |
A |
7: 80,513,141 (GRCm39) |
A42E |
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 |
|
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 |
|
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'- TGCACATTTCTCTACAAGGGCAAGG -3'
(R):5'- CATGGGCCTCAGAAGAAATCCTGC -3'
Sequencing Primer
(F):5'- CTCTACAAGGGCAAGGAGAGC -3'
(R):5'- CAGAAGAAATCCTGCCTGCTTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation