Incidental Mutation 'IGL03122:Scel'
ID 410005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scel
Ensembl Gene ENSMUSG00000022123
Gene Name sciellin
Synonyms 9230114I02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03122
Quality Score
Status
Chromosome 14
Chromosomal Location 103750778-103850233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103836842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 477 (R477G)
Ref Sequence ENSEMBL: ENSMUSP00000154402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095576] [ENSMUST00000227322]
AlphaFold Q9EQG3
Predicted Effect possibly damaging
Transcript: ENSMUST00000095576
AA Change: R497G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: R497G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000227322
AA Change: R477G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 G A 16: 56,590,725 (GRCm39) probably benign Het
Afap1l1 T C 18: 61,866,902 (GRCm39) D719G probably benign Het
Amph C T 13: 19,287,113 (GRCm39) T274M probably damaging Het
Atp2c2 T A 8: 120,469,414 (GRCm39) D396E possibly damaging Het
Atpaf1 T C 4: 115,648,475 (GRCm39) I164T probably damaging Het
Avpr1b C A 1: 131,528,257 (GRCm39) P260Q probably damaging Het
Cacna1a T C 8: 85,189,305 (GRCm39) probably benign Het
Cald1 A G 6: 34,741,963 (GRCm39) I449V probably damaging Het
Ccdc24 A G 4: 117,728,942 (GRCm39) probably null Het
Cdcp3 A G 7: 130,798,243 (GRCm39) Q84R possibly damaging Het
Cenpk C A 13: 104,378,885 (GRCm39) Q134K probably damaging Het
Clasp1 A G 1: 118,438,007 (GRCm39) N373D probably damaging Het
Col7a1 T A 9: 108,790,751 (GRCm39) S1042T unknown Het
Cry2 G A 2: 92,243,640 (GRCm39) R439C probably damaging Het
Dip2a G T 10: 76,110,880 (GRCm39) D1138E probably benign Het
Dlgap3 T C 4: 127,089,018 (GRCm39) S205P possibly damaging Het
Echdc2 T A 4: 108,022,777 (GRCm39) S18T probably benign Het
Efcab2 T A 1: 178,265,042 (GRCm39) V36E probably damaging Het
Galk1 A T 11: 115,901,065 (GRCm39) probably null Het
Hoxc11 A T 15: 102,863,390 (GRCm39) N144Y probably damaging Het
Ift140 T A 17: 25,305,884 (GRCm39) C824S probably damaging Het
Inf2 A G 12: 112,570,663 (GRCm39) S401G probably benign Het
Kcnn1 T G 8: 71,307,724 (GRCm39) D106A probably damaging Het
Lama4 A G 10: 38,943,959 (GRCm39) N754S probably benign Het
Marchf6 A G 15: 31,478,439 (GRCm39) probably null Het
Nlrp1b A C 11: 71,072,659 (GRCm39) C395G probably benign Het
Or2n1d T C 17: 38,646,192 (GRCm39) V48A probably benign Het
Or4k2 A T 14: 50,424,461 (GRCm39) M71K probably damaging Het
Or5ac15 T C 16: 58,939,801 (GRCm39) M211V probably benign Het
Or9q1 A G 19: 13,805,014 (GRCm39) S249P possibly damaging Het
Sdk2 A G 11: 113,732,894 (GRCm39) S984P probably damaging Het
Slc4a7 C T 14: 14,782,040 (GRCm38) probably benign Het
Tas2r103 A G 6: 133,013,872 (GRCm39) S65P probably damaging Het
Tnip2 T C 5: 34,661,095 (GRCm39) E119G possibly damaging Het
Zgrf1 T A 3: 127,381,782 (GRCm39) L310M possibly damaging Het
Other mutations in Scel
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4197:Scel UTSW 14 103,836,836 (GRCm39) missense probably damaging 0.97
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
Posted On 2016-08-02