Incidental Mutation 'R4197:Scel'
| ID |
318611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scel
|
| Ensembl Gene |
ENSMUSG00000022123 |
| Gene Name |
sciellin |
| Synonyms |
9230114I02Rik |
| MMRRC Submission |
041028-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4197 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
103750778-103850233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103836836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 475
(N475Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095576]
[ENSMUST00000227322]
|
| AlphaFold |
Q9EQG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095576
AA Change: N495Y
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: N495Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
111 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
178 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
204 |
327 |
9.24e-7 |
PROSPERO |
|
internal_repeat_1
|
378 |
505 |
9.24e-7 |
PROSPERO |
|
low complexity region
|
525 |
537 |
N/A |
INTRINSIC |
|
LIM
|
584 |
642 |
2.23e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227322
AA Change: N475Y
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.0796 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccno |
G |
A |
13: 113,125,603 (GRCm39) |
C189Y |
probably damaging |
Het |
| Cd36 |
T |
A |
5: 18,018,086 (GRCm39) |
D209V |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,148,547 (GRCm39) |
L1561Q |
possibly damaging |
Het |
| Dhx34 |
G |
T |
7: 15,937,651 (GRCm39) |
H777N |
probably damaging |
Het |
| Dlat |
T |
C |
9: 50,547,826 (GRCm39) |
T610A |
probably damaging |
Het |
| Efcab15 |
G |
A |
11: 103,091,966 (GRCm39) |
S94L |
probably benign |
Het |
| Fip1l1 |
T |
A |
5: 74,696,397 (GRCm39) |
D19E |
probably damaging |
Het |
| Gm5699 |
T |
A |
1: 31,037,726 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
C |
16: 9,579,831 (GRCm39) |
F144C |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,259,012 (GRCm39) |
|
probably null |
Het |
| Klhl31 |
T |
C |
9: 77,558,091 (GRCm39) |
V269A |
probably damaging |
Het |
| Lypd10 |
A |
G |
7: 24,413,119 (GRCm39) |
D146G |
probably benign |
Het |
| Mmel1 |
T |
C |
4: 154,977,761 (GRCm39) |
I594T |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,802,149 (GRCm39) |
S1913T |
probably benign |
Het |
| Or6a2 |
T |
C |
7: 106,600,245 (GRCm39) |
D274G |
probably damaging |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,358 (GRCm39) |
K155E |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,424,899 (GRCm39) |
N189K |
possibly damaging |
Het |
| Pde3b |
T |
G |
7: 114,130,107 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,041,221 (GRCm39) |
N1775S |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,626,162 (GRCm39) |
S1625G |
unknown |
Het |
| Ptpn21 |
G |
T |
12: 98,646,397 (GRCm39) |
H1020Q |
probably damaging |
Het |
| Rad23b |
C |
T |
4: 55,385,455 (GRCm39) |
P331S |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,619,064 (GRCm39) |
T531A |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,548,197 (GRCm39) |
L679Q |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,100,238 (GRCm39) |
D10E |
possibly damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,137,228 (GRCm39) |
V84I |
probably benign |
Het |
| Slco5a1 |
G |
T |
1: 12,964,740 (GRCm39) |
S512R |
probably damaging |
Het |
| Sv2c |
A |
T |
13: 96,114,636 (GRCm39) |
F517I |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
| Trav13n-4 |
C |
T |
14: 53,601,378 (GRCm39) |
T49I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,716,422 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,394,189 (GRCm39) |
S2261P |
probably damaging |
Het |
| Vmn2r87 |
G |
A |
10: 130,315,779 (GRCm39) |
P96S |
possibly damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,425 (GRCm39) |
M353V |
probably benign |
Het |
|
| Other mutations in Scel |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Scel
|
APN |
14 |
103,767,431 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00913:Scel
|
APN |
14 |
103,819,245 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01086:Scel
|
APN |
14 |
103,849,827 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01352:Scel
|
APN |
14 |
103,770,774 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01396:Scel
|
APN |
14 |
103,845,530 (GRCm39) |
splice site |
probably benign |
|
|
IGL01954:Scel
|
APN |
14 |
103,840,678 (GRCm39) |
splice site |
probably benign |
|
|
IGL02064:Scel
|
APN |
14 |
103,770,762 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02186:Scel
|
APN |
14 |
103,802,257 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02475:Scel
|
APN |
14 |
103,774,444 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02926:Scel
|
APN |
14 |
103,813,683 (GRCm39) |
nonsense |
probably null |
|
|
IGL03122:Scel
|
APN |
14 |
103,836,842 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03135:Scel
|
APN |
14 |
103,823,950 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4585001:Scel
|
UTSW |
14 |
103,829,804 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0346:Scel
|
UTSW |
14 |
103,767,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0394:Scel
|
UTSW |
14 |
103,799,954 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0418:Scel
|
UTSW |
14 |
103,840,690 (GRCm39) |
missense |
probably benign |
|
|
R0635:Scel
|
UTSW |
14 |
103,820,575 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0815:Scel
|
UTSW |
14 |
103,823,916 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0863:Scel
|
UTSW |
14 |
103,823,916 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0990:Scel
|
UTSW |
14 |
103,819,268 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1084:Scel
|
UTSW |
14 |
103,802,279 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1641:Scel
|
UTSW |
14 |
103,770,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Scel
|
UTSW |
14 |
103,848,226 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2002:Scel
|
UTSW |
14 |
103,779,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2341:Scel
|
UTSW |
14 |
103,845,606 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3425:Scel
|
UTSW |
14 |
103,845,542 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3836:Scel
|
UTSW |
14 |
103,829,822 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4035:Scel
|
UTSW |
14 |
103,767,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Scel
|
UTSW |
14 |
103,809,473 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4801:Scel
|
UTSW |
14 |
103,820,536 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4802:Scel
|
UTSW |
14 |
103,820,536 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5369:Scel
|
UTSW |
14 |
103,823,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5555:Scel
|
UTSW |
14 |
103,839,642 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5582:Scel
|
UTSW |
14 |
103,820,575 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5931:Scel
|
UTSW |
14 |
103,843,060 (GRCm39) |
nonsense |
probably null |
|
|
R5978:Scel
|
UTSW |
14 |
103,766,690 (GRCm39) |
splice site |
probably null |
|
|
R6045:Scel
|
UTSW |
14 |
103,829,649 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6062:Scel
|
UTSW |
14 |
103,822,572 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6218:Scel
|
UTSW |
14 |
103,809,478 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6225:Scel
|
UTSW |
14 |
103,829,420 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7102:Scel
|
UTSW |
14 |
103,781,268 (GRCm39) |
nonsense |
probably null |
|
|
R7349:Scel
|
UTSW |
14 |
103,781,315 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8376:Scel
|
UTSW |
14 |
103,809,451 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8924:Scel
|
UTSW |
14 |
103,829,807 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9014:Scel
|
UTSW |
14 |
103,822,575 (GRCm39) |
missense |
probably benign |
|
|
R9130:Scel
|
UTSW |
14 |
103,770,746 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9135:Scel
|
UTSW |
14 |
103,839,626 (GRCm39) |
missense |
probably benign |
|
|
R9179:Scel
|
UTSW |
14 |
103,811,836 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9614:Scel
|
UTSW |
14 |
103,843,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9638:Scel
|
UTSW |
14 |
103,779,409 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9672:Scel
|
UTSW |
14 |
103,836,838 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9719:Scel
|
UTSW |
14 |
103,809,442 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0026:Scel
|
UTSW |
14 |
103,829,429 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAACCCAGGATTGCCAAG -3'
(R):5'- TATACCAAGTAACAGGACTGAGC -3'
Sequencing Primer
(F):5'- GGATTGCCAAGCATGCTATC -3'
(R):5'- GGGCAGTGTGCATATTTA -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation