Incidental Mutation 'R1624:Scin'
| ID |
174914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scin
|
| Ensembl Gene |
ENSMUSG00000002565 |
| Gene Name |
scinderin |
| Synonyms |
adseverin |
| MMRRC Submission |
039661-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1624 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
40109768-40184227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40177929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 102
(Y102F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002640]
[ENSMUST00000078481]
|
| AlphaFold |
Q60604 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002640
AA Change: Y102F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: Y102F
| 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
AA Change: Y102F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565
AA Change: Y102F
| 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 |
|
| Meta Mutation Damage Score |
0.0877 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 91.4%
|
| Validation Efficiency |
99% (90/91) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
C |
16: 21,472,496 (GRCm39) |
Y68C |
probably damaging |
Het |
| 6820408C15Rik |
A |
T |
2: 152,276,031 (GRCm39) |
H81L |
probably damaging |
Het |
| Acbd4 |
A |
G |
11: 102,994,785 (GRCm39) |
T48A |
probably damaging |
Het |
| Acp3 |
T |
A |
9: 104,197,200 (GRCm39) |
E146D |
probably benign |
Het |
| Acsm1 |
T |
A |
7: 119,251,796 (GRCm39) |
I307N |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,019,384 (GRCm39) |
T89A |
possibly damaging |
Het |
| Agl |
T |
C |
3: 116,580,895 (GRCm39) |
T356A |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,357,534 (GRCm39) |
I47T |
probably damaging |
Het |
| Akr1c6 |
T |
A |
13: 4,496,363 (GRCm39) |
Y75N |
probably benign |
Het |
| Anxa2 |
T |
A |
9: 69,386,990 (GRCm39) |
S92T |
probably benign |
Het |
| Arid4b |
T |
C |
13: 14,358,979 (GRCm39) |
S585P |
probably damaging |
Het |
| Arl4d |
T |
C |
11: 101,557,842 (GRCm39) |
S123P |
possibly damaging |
Het |
| Atad2 |
A |
T |
15: 57,963,415 (GRCm39) |
D1067E |
probably damaging |
Het |
| Brap |
C |
A |
5: 121,820,922 (GRCm39) |
T403K |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,809,344 (GRCm39) |
N1895K |
possibly damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,087 (GRCm39) |
T464A |
probably benign |
Het |
| Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
| Cdh11 |
T |
C |
8: 103,391,233 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,725,163 (GRCm39) |
Y691F |
probably benign |
Het |
| Clhc1 |
A |
T |
11: 29,519,287 (GRCm39) |
I365F |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 113,951,804 (GRCm39) |
Q1078R |
probably damaging |
Het |
| Creb3 |
G |
A |
4: 43,566,375 (GRCm39) |
V294I |
possibly damaging |
Het |
| Cspg4 |
T |
C |
9: 56,795,754 (GRCm39) |
I1163T |
probably damaging |
Het |
| Cyp3a57 |
A |
C |
5: 145,327,225 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,618,918 (GRCm39) |
I1661N |
probably damaging |
Het |
| Dpysl4 |
A |
C |
7: 138,669,469 (GRCm39) |
D49A |
probably damaging |
Het |
| Efhb |
T |
A |
17: 53,733,306 (GRCm39) |
I522F |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,376,329 (GRCm39) |
T517A |
probably damaging |
Het |
| Fasn |
A |
G |
11: 120,703,937 (GRCm39) |
S1466P |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,973,298 (GRCm39) |
D1253V |
probably benign |
Het |
| Fjx1 |
G |
A |
2: 102,281,509 (GRCm39) |
A142V |
probably benign |
Het |
| Foxb1 |
T |
C |
9: 69,666,598 (GRCm39) |
T311A |
probably benign |
Het |
| Fpgs |
A |
G |
2: 32,581,200 (GRCm39) |
|
probably null |
Het |
| Gm10024 |
A |
G |
10: 77,547,606 (GRCm39) |
|
probably null |
Het |
| Gnat3 |
A |
T |
5: 18,208,841 (GRCm39) |
T182S |
possibly damaging |
Het |
| Igsf3 |
T |
A |
3: 101,362,543 (GRCm39) |
F875I |
probably benign |
Het |
| Kif13b |
A |
G |
14: 64,976,068 (GRCm39) |
E461G |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,832,982 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
G |
A |
5: 123,896,540 (GRCm39) |
R134Q |
possibly damaging |
Het |
| Krt33a |
A |
T |
11: 99,905,072 (GRCm39) |
Y145N |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,848,551 (GRCm39) |
V313A |
probably benign |
Het |
| Lamb1 |
T |
C |
12: 31,328,651 (GRCm39) |
|
probably null |
Het |
| Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,632,133 (GRCm39) |
L2336F |
probably damaging |
Het |
| Naglu |
T |
C |
11: 100,967,351 (GRCm39) |
S434P |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,580,655 (GRCm39) |
H101L |
possibly damaging |
Het |
| Nlrc4 |
G |
A |
17: 74,752,184 (GRCm39) |
T733I |
possibly damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,636,573 (GRCm39) |
E558G |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,891,397 (GRCm39) |
N327K |
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,100 (GRCm39) |
Y77C |
probably damaging |
Het |
| Or1x2 |
T |
C |
11: 50,917,952 (GRCm39) |
V41A |
probably damaging |
Het |
| Or2m13 |
T |
A |
16: 19,226,454 (GRCm39) |
Y104F |
probably benign |
Het |
| Or4f6 |
T |
A |
2: 111,838,877 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or6b13 |
T |
C |
7: 139,781,864 (GRCm39) |
N273S |
probably damaging |
Het |
| Pdia2 |
T |
A |
17: 26,415,495 (GRCm39) |
I441F |
probably damaging |
Het |
| Phyh |
T |
C |
2: 4,930,494 (GRCm39) |
S74P |
probably benign |
Het |
| Pigo |
A |
G |
4: 43,024,661 (GRCm39) |
L146P |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,713,219 (GRCm39) |
D1191G |
probably damaging |
Het |
| Plrg1 |
T |
C |
3: 82,975,301 (GRCm39) |
|
probably benign |
Het |
| Plrg1 |
G |
A |
3: 82,977,051 (GRCm39) |
R364Q |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,515,669 (GRCm39) |
L614S |
probably damaging |
Het |
| Pramel16 |
A |
T |
4: 143,676,400 (GRCm39) |
C235S |
possibly damaging |
Het |
| Prrg4 |
A |
G |
2: 104,663,027 (GRCm39) |
V193A |
probably damaging |
Het |
| Prss16 |
T |
A |
13: 22,187,483 (GRCm39) |
E47V |
probably benign |
Het |
| Ptpru |
G |
A |
4: 131,499,861 (GRCm39) |
T1261I |
probably damaging |
Het |
| Pycard |
A |
G |
7: 127,591,970 (GRCm39) |
S124P |
possibly damaging |
Het |
| Riok1 |
C |
A |
13: 38,221,487 (GRCm39) |
D17E |
probably damaging |
Het |
| Scmh1 |
A |
G |
4: 120,386,425 (GRCm39) |
H655R |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,476,598 (GRCm39) |
N842K |
probably benign |
Het |
| Sec23b |
T |
A |
2: 144,409,049 (GRCm39) |
M211K |
probably benign |
Het |
| Serpina3i |
A |
C |
12: 104,234,897 (GRCm39) |
*409C |
probably null |
Het |
| Sgk2 |
G |
A |
2: 162,839,779 (GRCm39) |
R129H |
probably benign |
Het |
| Slc39a13 |
A |
G |
2: 90,898,871 (GRCm39) |
I80T |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,029,631 (GRCm39) |
D73G |
probably benign |
Het |
| Spata18 |
A |
C |
5: 73,826,888 (GRCm39) |
T276P |
probably damaging |
Het |
| Srgap1 |
T |
G |
10: 121,691,278 (GRCm39) |
M319L |
probably benign |
Het |
| Stx7 |
T |
A |
10: 24,060,903 (GRCm39) |
V210E |
probably damaging |
Het |
| Tjp2 |
T |
A |
19: 24,108,776 (GRCm39) |
H112L |
probably benign |
Het |
| Tuba8 |
A |
T |
6: 121,197,385 (GRCm39) |
I16F |
probably damaging |
Het |
| Ube3c |
G |
A |
5: 29,851,617 (GRCm39) |
A815T |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,417,116 (GRCm39) |
V14E |
probably benign |
Het |
| Vmn2r79 |
A |
T |
7: 86,653,247 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
G |
1: 63,343,018 (GRCm39) |
T466A |
possibly 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 |
|
|
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'- TGCATTGCCTTGGACAAGGTCTATC -3'
(R):5'- GAGAGCTTCTAGTGTCCTTCTCCTCAG -3'
Sequencing Primer
(F):5'- ctagttcggcatttggacatc -3'
(R):5'- AGCTTGTCTGCCCTGTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation