Incidental Mutation 'R8489:Scin'
| ID |
657904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scin
|
| Ensembl Gene |
ENSMUSG00000002565 |
| Gene Name |
scinderin |
| Synonyms |
adseverin |
| MMRRC Submission |
067932-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8489 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
40109768-40184227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40131019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 298
(G298D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002640]
[ENSMUST00000078481]
|
| AlphaFold |
Q60604 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002640
AA Change: G298D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002640
Gene: ENSMUSG00000002565
AA Change: G298D
| 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 damaging
Transcript: ENSMUST00000078481
AA Change: G298D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077573
Gene: ENSMUSG00000002565
AA Change: G298D
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
C |
A |
17: 47,777,254 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
T |
G |
10: 80,143,298 (GRCm39) |
L466R |
probably damaging |
Het |
| Baz1b |
C |
A |
5: 135,245,709 (GRCm39) |
P386H |
probably damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,533,999 (GRCm39) |
D389G |
probably benign |
Het |
| Cit |
T |
A |
5: 116,083,962 (GRCm39) |
|
probably null |
Het |
| Cmas |
C |
A |
6: 142,702,596 (GRCm39) |
A33E |
probably benign |
Het |
| Dcaf7 |
A |
G |
11: 105,942,743 (GRCm39) |
N230S |
probably damaging |
Het |
| Dcun1d5 |
C |
A |
9: 7,206,837 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
T |
A |
6: 148,986,389 (GRCm39) |
D58V |
probably benign |
Het |
| Dmrt2 |
C |
A |
19: 25,655,831 (GRCm39) |
Q477K |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,672,999 (GRCm39) |
N90S |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,804,435 (GRCm39) |
I1848F |
possibly damaging |
Het |
| Fgfr2 |
T |
G |
7: 129,769,534 (GRCm39) |
M522L |
probably benign |
Het |
| Fshr |
C |
A |
17: 89,293,795 (GRCm39) |
K294N |
probably benign |
Het |
| Gja10 |
T |
C |
4: 32,601,866 (GRCm39) |
I173V |
probably benign |
Het |
| Gmnn |
A |
G |
13: 24,941,614 (GRCm39) |
S32P |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,180 (GRCm39) |
N95D |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,758,219 (GRCm39) |
T715A |
probably damaging |
Het |
| Klrc2 |
A |
G |
6: 129,635,787 (GRCm39) |
S97P |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,721,364 (GRCm39) |
S151L |
probably benign |
Het |
| Man2a1 |
G |
T |
17: 64,908,765 (GRCm39) |
S12I |
possibly damaging |
Het |
| Mplkipl1 |
T |
C |
19: 61,164,085 (GRCm39) |
T117A |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,701 (GRCm39) |
V124E |
possibly damaging |
Het |
| Myo5c |
T |
C |
9: 75,180,128 (GRCm39) |
W690R |
probably damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,150,745 (GRCm39) |
K817E |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,596,328 (GRCm39) |
I185T |
probably damaging |
Het |
| Or5h27 |
A |
G |
16: 59,006,400 (GRCm39) |
*149Q |
probably null |
Het |
| Or5p60 |
T |
A |
7: 107,724,372 (GRCm39) |
I33F |
probably benign |
Het |
| Or8b50 |
T |
C |
9: 38,518,232 (GRCm39) |
M157T |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,709,038 (GRCm39) |
I759N |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,207 (GRCm39) |
N396Y |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,766,437 (GRCm39) |
C1542S |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,274,121 (GRCm39) |
V450E |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,121 (GRCm39) |
K574E |
probably damaging |
Het |
| Pramel52-ps |
T |
C |
5: 94,531,551 (GRCm39) |
L145P |
probably damaging |
Het |
| Psmc1 |
C |
T |
12: 100,089,356 (GRCm39) |
R410C |
probably benign |
Het |
| Rad51b |
C |
T |
12: 79,374,024 (GRCm39) |
S201L |
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,544,733 (GRCm39) |
L200Q |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,479,846 (GRCm39) |
M1293V |
probably damaging |
Het |
| Scn8a |
C |
A |
15: 100,867,014 (GRCm39) |
F123L |
probably damaging |
Het |
| Snapc3 |
G |
A |
4: 83,369,531 (GRCm39) |
C353Y |
probably damaging |
Het |
| Sned1 |
C |
A |
1: 93,210,978 (GRCm39) |
S231* |
probably null |
Het |
| Tex15 |
A |
G |
8: 34,067,574 (GRCm39) |
T2335A |
probably benign |
Het |
| Tigd4 |
G |
A |
3: 84,502,526 (GRCm39) |
G481D |
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,219,343 (GRCm39) |
F2027V |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,711,548 (GRCm39) |
A1449T |
probably benign |
Het |
| Ulk1 |
G |
T |
5: 110,947,002 (GRCm39) |
Y89* |
probably null |
Het |
| Usp54 |
A |
G |
14: 20,611,604 (GRCm39) |
F1071L |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,587,190 (GRCm39) |
E949K |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,964 (GRCm39) |
T651S |
possibly damaging |
Het |
| Wdfy1 |
A |
G |
1: 79,739,368 (GRCm39) |
L17P |
probably damaging |
Het |
| Zfp672 |
G |
A |
11: 58,220,681 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- GTAGCCCTATACACTGACCTCC -3'
(R):5'- GCATTTAATATGTCAGGGAATGTTGCC -3'
Sequencing Primer
(F):5'- CACACACGCTATTATGGATTCTTGTG -3'
(R):5'- AATGTTGCCATTCTCCCATTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation