Incidental Mutation 'R4781:Scin'
| ID |
366529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scin
|
| Ensembl Gene |
ENSMUSG00000002565 |
| Gene Name |
scinderin |
| Synonyms |
adseverin |
| MMRRC Submission |
042415-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4781 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
40109768-40184227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40131763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 257
(A257V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002640]
[ENSMUST00000078481]
|
| AlphaFold |
Q60604 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002640
AA Change: A257V
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: A257V
| 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: A257V
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565
AA Change: A257V
| 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 |
0.1130 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (74/74) |
| 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 |
|---|
| 2310022A10Rik |
T |
A |
7: 27,271,076 (GRCm39) |
I157N |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,908,571 (GRCm39) |
Y1165H |
probably damaging |
Het |
| Adra2a |
A |
G |
19: 54,034,926 (GRCm39) |
D94G |
probably damaging |
Het |
| Akr1c20 |
T |
A |
13: 4,558,174 (GRCm39) |
K197* |
probably null |
Het |
| Ankrd65 |
C |
T |
4: 155,877,493 (GRCm39) |
H335Y |
possibly damaging |
Het |
| Axin2 |
T |
A |
11: 108,834,682 (GRCm39) |
L636Q |
probably damaging |
Het |
| Camk1g |
G |
T |
1: 193,038,652 (GRCm39) |
T90N |
probably benign |
Het |
| Cd177 |
C |
A |
7: 24,450,051 (GRCm39) |
C528F |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,339,931 (GRCm39) |
D730V |
possibly damaging |
Het |
| Crtap |
T |
C |
9: 114,215,304 (GRCm39) |
D195G |
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,966,952 (GRCm39) |
S74G |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,392,922 (GRCm39) |
R128G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,464,367 (GRCm39) |
F3675L |
probably benign |
Het |
| Dram2 |
T |
A |
3: 106,478,992 (GRCm39) |
W195R |
probably damaging |
Het |
| E130308A19Rik |
C |
T |
4: 59,691,057 (GRCm39) |
P297L |
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,489,066 (GRCm39) |
S83G |
probably benign |
Het |
| Gabra1 |
G |
A |
11: 42,024,488 (GRCm39) |
P396S |
probably damaging |
Het |
| Gipr |
T |
A |
7: 18,891,300 (GRCm39) |
Y459F |
possibly damaging |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6981 |
T |
C |
9: 51,914,056 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2d |
T |
C |
7: 45,511,905 (GRCm39) |
D180G |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,444,170 (GRCm39) |
|
probably null |
Het |
| Hhat |
T |
C |
1: 192,369,287 (GRCm39) |
|
probably benign |
Het |
| Hoxa6 |
A |
G |
6: 52,183,400 (GRCm39) |
L215P |
possibly damaging |
Het |
| Hsf4 |
G |
A |
8: 106,001,384 (GRCm39) |
|
probably null |
Het |
| Igf1r |
G |
A |
7: 67,814,947 (GRCm39) |
A283T |
possibly damaging |
Het |
| Ighv15-2 |
A |
G |
12: 114,528,476 (GRCm39) |
S25P |
probably damaging |
Het |
| Inpp5a |
C |
T |
7: 139,057,921 (GRCm39) |
T43I |
probably benign |
Het |
| Kmt2c |
T |
A |
5: 25,648,823 (GRCm39) |
E82V |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,741,526 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,844,396 (GRCm39) |
|
probably null |
Het |
| Mefv |
G |
A |
16: 3,533,198 (GRCm39) |
P358S |
probably benign |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,795 (GRCm39) |
F291L |
possibly damaging |
Het |
| Mtmr3 |
A |
G |
11: 4,438,435 (GRCm39) |
L673P |
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,787,360 (GRCm39) |
|
noncoding transcript |
Het |
| Myo5b |
A |
T |
18: 74,877,752 (GRCm39) |
T1584S |
possibly damaging |
Het |
| Or1x6 |
A |
T |
11: 50,939,307 (GRCm39) |
R124S |
probably damaging |
Het |
| Or4z4 |
T |
C |
19: 12,076,731 (GRCm39) |
T91A |
probably benign |
Het |
| Palld |
G |
T |
8: 62,330,062 (GRCm39) |
R272S |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,737,158 (GRCm39) |
N144Y |
probably damaging |
Het |
| Prf1 |
A |
G |
10: 61,136,203 (GRCm39) |
K160E |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,122,190 (GRCm39) |
A400V |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,590,781 (GRCm39) |
Y48C |
probably damaging |
Het |
| Rpl11 |
G |
T |
4: 135,777,599 (GRCm39) |
Q170K |
probably benign |
Het |
| Scn7a |
C |
A |
2: 66,534,104 (GRCm39) |
A524S |
possibly damaging |
Het |
| Sim1 |
T |
C |
10: 50,859,881 (GRCm39) |
L581S |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,051,741 (GRCm39) |
T715A |
probably benign |
Het |
| Slc22a26 |
A |
G |
19: 7,767,500 (GRCm39) |
V301A |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,171,119 (GRCm39) |
Y923C |
probably damaging |
Het |
| Src |
T |
A |
2: 157,309,405 (GRCm39) |
M304K |
possibly damaging |
Het |
| Srgap3 |
A |
T |
6: 112,734,386 (GRCm39) |
|
probably benign |
Het |
| Stard3 |
G |
A |
11: 98,263,160 (GRCm39) |
E72K |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,070,340 (GRCm39) |
N2482I |
probably damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,038,778 (GRCm39) |
K20R |
possibly damaging |
Het |
| Tcstv4 |
A |
C |
13: 120,769,698 (GRCm39) |
K6T |
possibly damaging |
Het |
| Tfip11 |
G |
A |
5: 112,481,265 (GRCm39) |
E414K |
probably damaging |
Het |
| Tinag |
G |
T |
9: 76,904,232 (GRCm39) |
T397K |
possibly damaging |
Het |
| Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
| Trmt10b |
T |
A |
4: 45,305,817 (GRCm39) |
I164N |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,884,800 (GRCm39) |
D827G |
probably benign |
Het |
| Ube2u |
A |
T |
4: 100,343,855 (GRCm39) |
T85S |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 120,932,642 (GRCm39) |
D1066G |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,069 (GRCm39) |
I832F |
probably benign |
Het |
| Yipf1 |
A |
C |
4: 107,193,355 (GRCm39) |
E80D |
probably benign |
Het |
| Zfp40 |
T |
A |
17: 23,394,629 (GRCm39) |
R653W |
probably damaging |
Het |
| Zxdc |
A |
G |
6: 90,349,535 (GRCm39) |
T308A |
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 |
|
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'- TCTTTCACCTCCTAGGAAGAGAAC -3'
(R):5'- ACAAAAGTGCTTGGGGTGC -3'
Sequencing Primer
(F):5'- CTCCTAGGAAGAGAACATCAGATCTG -3'
(R):5'- CCAGGGATGCTTTGCCTCTG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation