Incidental Mutation 'IGL03122:Scel'
ID410005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scel
Ensembl Gene ENSMUSG00000022123
Gene Namesciellin
Synonyms9230114I02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03122
Quality Score
Status
Chromosome14
Chromosomal Location103513342-103612797 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103599406 bp
ZygosityHeterozygous
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]
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
5430419D17Rik A G 7: 131,196,514 Q84R possibly damaging Het
Adgrg7 G A 16: 56,770,362 probably benign Het
Afap1l1 T C 18: 61,733,831 D719G probably benign Het
Amph C T 13: 19,102,943 T274M probably damaging Het
Atp2c2 T A 8: 119,742,675 D396E possibly damaging Het
Atpaf1 T C 4: 115,791,278 I164T probably damaging Het
Avpr1b C A 1: 131,600,519 P260Q probably damaging Het
Cacna1a T C 8: 84,462,676 probably benign Het
Cald1 A G 6: 34,765,028 I449V probably damaging Het
Ccdc24 A G 4: 117,871,745 probably null Het
Cenpk C A 13: 104,242,377 Q134K probably damaging Het
Clasp1 A G 1: 118,510,277 N373D probably damaging Het
Col7a1 T A 9: 108,961,683 S1042T unknown Het
Cry2 G A 2: 92,413,295 R439C probably damaging Het
Dip2a G T 10: 76,275,046 D1138E probably benign Het
Dlgap3 T C 4: 127,195,225 S205P possibly damaging Het
Echdc2 T A 4: 108,165,580 S18T probably benign Het
Efcab2 T A 1: 178,437,477 V36E probably damaging Het
Galk1 A T 11: 116,010,239 probably null Het
Hoxc11 A T 15: 102,954,955 N144Y probably damaging Het
Ift140 T A 17: 25,086,910 C824S probably damaging Het
Inf2 A G 12: 112,604,229 S401G probably benign Het
Kcnn1 T G 8: 70,855,080 D106A probably damaging Het
Lama4 A G 10: 39,067,963 N754S probably benign Het
March6 A G 15: 31,478,293 probably null Het
Nlrp1b A C 11: 71,181,833 C395G probably benign Het
Olfr136 T C 17: 38,335,301 V48A probably benign Het
Olfr1500 A G 19: 13,827,650 S249P possibly damaging Het
Olfr194 T C 16: 59,119,438 M211V probably benign Het
Olfr730 A T 14: 50,187,004 M71K probably damaging Het
Sdk2 A G 11: 113,842,068 S984P probably damaging Het
Slc4a7 C T 14: 14,782,040 probably benign Het
Tas2r103 A G 6: 133,036,909 S65P probably damaging Het
Tnip2 T C 5: 34,503,751 E119G possibly damaging Het
Zgrf1 T A 3: 127,588,133 L310M possibly damaging Het
Other mutations in Scel
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Scel APN 14 103529995 missense probably benign 0.01
IGL00913:Scel APN 14 103581809 missense probably benign 0.35
IGL01086:Scel APN 14 103612391 missense probably benign 0.05
IGL01352:Scel APN 14 103533338 missense possibly damaging 0.54
IGL01396:Scel APN 14 103608094 splice site probably benign
IGL01954:Scel APN 14 103603242 splice site probably benign
IGL02064:Scel APN 14 103533326 missense probably damaging 0.98
IGL02186:Scel APN 14 103564821 missense probably benign 0.23
IGL02475:Scel APN 14 103537008 missense possibly damaging 0.95
IGL02926:Scel APN 14 103576247 nonsense probably null
IGL03135:Scel APN 14 103586514 missense probably benign 0.02
PIT4585001:Scel UTSW 14 103592368 missense possibly damaging 0.90
R0346:Scel UTSW 14 103529984 missense probably damaging 1.00
R0394:Scel UTSW 14 103562518 missense probably benign 0.15
R0418:Scel UTSW 14 103603254 missense probably benign
R0635:Scel UTSW 14 103583139 critical splice donor site probably null
R0815:Scel UTSW 14 103586480 missense possibly damaging 0.83
R0863:Scel UTSW 14 103586480 missense possibly damaging 0.83
R0990:Scel UTSW 14 103581832 missense possibly damaging 0.55
R1084:Scel UTSW 14 103564843 critical splice donor site probably null
R1641:Scel UTSW 14 103533316 missense probably damaging 1.00
R2001:Scel UTSW 14 103610790 missense possibly damaging 0.66
R2002:Scel UTSW 14 103541985 missense probably damaging 1.00
R2341:Scel UTSW 14 103608170 missense possibly damaging 0.92
R3425:Scel UTSW 14 103608106 missense possibly damaging 0.92
R3836:Scel UTSW 14 103592386 missense possibly damaging 0.66
R4035:Scel UTSW 14 103530004 missense probably damaging 1.00
R4197:Scel UTSW 14 103599400 missense probably damaging 0.97
R4737:Scel UTSW 14 103572037 missense possibly damaging 0.79
R4801:Scel UTSW 14 103583100 missense probably benign 0.01
R4802:Scel UTSW 14 103583100 missense probably benign 0.01
R5369:Scel UTSW 14 103586493 missense probably benign 0.00
R5555:Scel UTSW 14 103602206 missense probably benign 0.27
R5582:Scel UTSW 14 103583139 critical splice donor site probably benign
R5931:Scel UTSW 14 103605624 nonsense probably null
R5978:Scel UTSW 14 103529254 splice site probably null
R6045:Scel UTSW 14 103592213 missense probably benign 0.12
R6062:Scel UTSW 14 103585136 missense possibly damaging 0.82
R6218:Scel UTSW 14 103572042 missense probably benign 0.12
R6225:Scel UTSW 14 103591984 missense probably benign 0.27
R7102:Scel UTSW 14 103543832 nonsense probably null
R7349:Scel UTSW 14 103543879 missense probably benign 0.11
R8376:Scel UTSW 14 103572015 missense probably benign 0.02
X0026:Scel UTSW 14 103591993 missense possibly damaging 0.46
Posted On2016-08-02