Incidental Mutation 'R1566:Scin'
ID |
175287 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scin
|
Ensembl Gene |
ENSMUSG00000002565 |
Gene Name |
scinderin |
Synonyms |
adseverin |
MMRRC Submission |
039605-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1566 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
40109768-40184227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 40131673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 287
(H287L)
|
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: H287L
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000002640 Gene: ENSMUSG00000002565 AA Change: H287L
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: H287L
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000077573 Gene: ENSMUSG00000002565 AA Change: H287L
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: 95.7%
- 20x: 90.9%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
T |
A |
11: 109,679,632 (GRCm39) |
I247F |
probably benign |
Het |
Afap1l1 |
T |
C |
18: 61,888,714 (GRCm39) |
N119S |
probably benign |
Het |
Ap2a1 |
T |
C |
7: 44,552,904 (GRCm39) |
D721G |
probably benign |
Het |
Ap3m2 |
C |
T |
8: 23,293,967 (GRCm39) |
V28M |
probably damaging |
Het |
Arhgef7 |
A |
G |
8: 11,832,620 (GRCm39) |
T32A |
possibly damaging |
Het |
Avl9 |
C |
T |
6: 56,713,467 (GRCm39) |
R242* |
probably null |
Het |
Bsn |
G |
A |
9: 108,003,184 (GRCm39) |
T407I |
probably benign |
Het |
Capn3 |
A |
T |
2: 120,333,474 (GRCm39) |
R627S |
possibly damaging |
Het |
Car13 |
G |
A |
3: 14,715,758 (GRCm39) |
R92Q |
probably benign |
Het |
Clcn1 |
T |
C |
6: 42,268,374 (GRCm39) |
I149T |
possibly damaging |
Het |
Col1a2 |
G |
T |
6: 4,523,613 (GRCm39) |
G514V |
probably damaging |
Het |
Ctsw |
C |
A |
19: 5,515,445 (GRCm39) |
C347F |
probably damaging |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Eif1ad8 |
A |
T |
12: 87,564,001 (GRCm39) |
H112L |
probably benign |
Het |
Eml1 |
T |
A |
12: 108,438,151 (GRCm39) |
V97D |
probably damaging |
Het |
Epb41l1 |
A |
G |
2: 156,363,879 (GRCm39) |
E796G |
probably benign |
Het |
Gdnf |
A |
G |
15: 7,863,895 (GRCm39) |
K102R |
probably benign |
Het |
Gm1110 |
T |
C |
9: 26,792,166 (GRCm39) |
E618G |
probably damaging |
Het |
Gmnc |
T |
C |
16: 26,782,689 (GRCm39) |
D22G |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,761,829 (GRCm39) |
D517G |
possibly damaging |
Het |
Gsta1 |
A |
T |
9: 78,149,741 (GRCm39) |
K185* |
probably null |
Het |
Ift88 |
A |
G |
14: 57,678,468 (GRCm39) |
D160G |
probably benign |
Het |
Intu |
T |
A |
3: 40,647,008 (GRCm39) |
I627N |
probably damaging |
Het |
Itgav |
T |
A |
2: 83,566,974 (GRCm39) |
F101L |
probably damaging |
Het |
Kars1 |
C |
T |
8: 112,724,290 (GRCm39) |
V475I |
probably benign |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Klra7 |
A |
G |
6: 130,208,564 (GRCm39) |
V6A |
probably damaging |
Het |
Krtap6-2 |
A |
G |
16: 89,216,626 (GRCm39) |
S114P |
unknown |
Het |
Ldlrad4 |
T |
C |
18: 68,383,669 (GRCm39) |
S122P |
probably benign |
Het |
Lig4 |
C |
A |
8: 10,023,650 (GRCm39) |
L43F |
probably benign |
Het |
Mfsd4a |
T |
C |
1: 131,986,917 (GRCm39) |
D137G |
probably damaging |
Het |
Mmel1 |
C |
T |
4: 154,968,110 (GRCm39) |
R149C |
probably damaging |
Het |
Morc2b |
T |
A |
17: 33,355,948 (GRCm39) |
H608L |
probably benign |
Het |
Mrgpra6 |
G |
A |
7: 46,838,652 (GRCm39) |
T182I |
probably benign |
Het |
Nat8l |
C |
A |
5: 34,158,200 (GRCm39) |
N203K |
probably benign |
Het |
Nin |
A |
T |
12: 70,101,253 (GRCm39) |
V448E |
probably damaging |
Het |
Or10a4 |
T |
G |
7: 106,696,759 (GRCm39) |
F29C |
probably damaging |
Het |
Or2m12 |
T |
A |
16: 19,105,077 (GRCm39) |
M139L |
possibly damaging |
Het |
Or5k15 |
T |
A |
16: 58,709,903 (GRCm39) |
I227F |
probably damaging |
Het |
Or8k21 |
G |
A |
2: 86,145,129 (GRCm39) |
T167I |
probably benign |
Het |
Pank4 |
T |
C |
4: 155,064,978 (GRCm39) |
L759P |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,743,810 (GRCm39) |
N1152K |
probably damaging |
Het |
Pitpnm3 |
A |
T |
11: 71,949,785 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
T |
C |
12: 76,618,839 (GRCm39) |
M497T |
possibly damaging |
Het |
Ppfia3 |
T |
C |
7: 44,990,112 (GRCm39) |
D1138G |
probably damaging |
Het |
Prl6a1 |
T |
A |
13: 27,499,410 (GRCm39) |
S59R |
possibly damaging |
Het |
Pth2r |
A |
G |
1: 65,427,697 (GRCm39) |
S457G |
possibly damaging |
Het |
Rbm25 |
T |
A |
12: 83,721,828 (GRCm39) |
N671K |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,397,980 (GRCm39) |
K47N |
unknown |
Het |
Ryr1 |
T |
A |
7: 28,791,600 (GRCm39) |
I1435F |
possibly damaging |
Het |
Serpinb9e |
T |
C |
13: 33,437,477 (GRCm39) |
L120P |
probably damaging |
Het |
Slc34a1 |
A |
C |
13: 55,559,844 (GRCm39) |
|
probably null |
Het |
Slc39a10 |
A |
G |
1: 46,875,245 (GRCm39) |
F19S |
possibly damaging |
Het |
Sos1 |
A |
G |
17: 80,761,345 (GRCm39) |
V117A |
probably damaging |
Het |
Spta1 |
C |
A |
1: 174,012,272 (GRCm39) |
N359K |
probably benign |
Het |
Sspo |
G |
A |
6: 48,443,804 (GRCm39) |
|
probably null |
Het |
Stx5a |
T |
A |
19: 8,719,675 (GRCm39) |
D13E |
probably damaging |
Het |
Supt16 |
G |
A |
14: 52,414,112 (GRCm39) |
A489V |
probably damaging |
Het |
Tap1 |
T |
A |
17: 34,408,520 (GRCm39) |
L253Q |
probably benign |
Het |
Tmc6 |
A |
G |
11: 117,660,262 (GRCm39) |
S659P |
probably damaging |
Het |
Tnfsf14 |
T |
C |
17: 57,500,876 (GRCm39) |
D65G |
probably benign |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Ugt8a |
T |
C |
3: 125,669,207 (GRCm39) |
Y299C |
probably damaging |
Het |
Upk1a |
A |
G |
7: 30,309,145 (GRCm39) |
V59A |
possibly damaging |
Het |
Usp38 |
T |
C |
8: 81,711,432 (GRCm39) |
T868A |
probably benign |
Het |
Wdsub1 |
G |
A |
2: 59,707,059 (GRCm39) |
H58Y |
probably damaging |
Het |
Zc3h7b |
T |
C |
15: 81,653,035 (GRCm39) |
S19P |
possibly damaging |
Het |
Zfp385b |
A |
C |
2: 77,246,257 (GRCm39) |
F257V |
probably benign |
Het |
Zmym4 |
A |
C |
4: 126,804,940 (GRCm39) |
I188S |
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 |
|
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 |
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'- GGTTCCAAACATTCGCCTACCAGC -3'
(R):5'- GCCGTTTGATAAGGACCCAGTGAC -3'
Sequencing Primer
(F):5'- CACCTCCTAGGAAGAGAACATC -3'
(R):5'- AGGCTCATGTTCTCGAAGCATAG -3'
|
Posted On |
2014-04-24 |