Incidental Mutation 'IGL03135:Scel'
ID410463
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 #IGL03135
Quality Score
Status
Chromosome14
Chromosomal Location103513342-103612797 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103586514 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 393 (I393F)
Ref Sequence ENSEMBL: ENSMUSP00000154402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095576] [ENSMUST00000227322]
Predicted Effect probably benign
Transcript: ENSMUST00000095576
AA Change: I413F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: I413F

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 probably benign
Transcript: ENSMUST00000227322
AA Change: I393F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apmap A C 2: 150,587,115 M196R possibly damaging Het
Arhgap27 T A 11: 103,339,065 probably null Het
Arl8b A C 6: 108,818,545 N148T probably benign Het
Baz1a A G 12: 54,929,590 F434L probably damaging Het
Birc3 A G 9: 7,849,721 probably benign Het
Brwd1 C A 16: 96,021,258 R1249I probably damaging Het
Cab39l T C 14: 59,519,651 F161L probably benign Het
Ccr8 A T 9: 120,094,623 D268V possibly damaging Het
Col25a1 A T 3: 130,529,683 probably benign Het
Cpn1 A G 19: 43,986,254 L12P possibly damaging Het
Dnah6 A G 6: 73,145,004 I1360T probably benign Het
Dnajb8 A G 6: 88,223,031 E183G probably damaging Het
Dpp8 T A 9: 65,053,040 probably null Het
Fsd1 C A 17: 55,990,416 probably null Het
Grina T A 15: 76,247,962 F28I possibly damaging Het
H2-M3 G A 17: 37,272,433 D262N possibly damaging Het
Hdgfl3 G A 7: 81,893,839 T188M probably damaging Het
Kif18b A G 11: 102,914,260 I353T probably damaging Het
Lrrc41 C A 4: 116,088,531 R148S probably benign Het
Lrrc8e T A 8: 4,235,776 L667Q probably damaging Het
Lrrk1 A G 7: 66,262,890 F1641L probably benign Het
Naaladl1 A T 19: 6,112,356 T443S probably benign Het
Naga C A 15: 82,330,741 V339F probably damaging Het
Nedd4l A G 18: 65,205,670 K702E probably damaging Het
Nwd2 T A 5: 63,805,995 L974H probably damaging Het
Parp14 A G 16: 35,858,011 M529T probably damaging Het
Parp8 A G 13: 116,910,942 V198A probably benign Het
Pcdhb19 A T 18: 37,498,535 H461L probably benign Het
Ppp6r1 T C 7: 4,642,160 D236G possibly damaging Het
Psg21 T C 7: 18,654,918 D83G probably benign Het
Ptpru A G 4: 131,818,800 C308R probably damaging Het
Ralgds T A 2: 28,549,088 S696T probably damaging Het
Rttn T A 18: 89,015,150 L695Q probably damaging Het
Serpina3j T A 12: 104,314,907 I113N probably damaging Het
Slc4a3 C A 1: 75,547,935 probably benign Het
Slc6a11 A T 6: 114,194,609 probably null Het
Slc8a3 C T 12: 81,202,249 V802M probably damaging Het
Smarcal1 T A 1: 72,616,501 probably null Het
Tmprss11c A G 5: 86,237,650 V308A probably damaging Het
Trim10 A G 17: 36,874,221 R279G possibly damaging Het
Trim30a A G 7: 104,411,141 V476A probably damaging Het
Trio T C 15: 27,832,011 probably benign Het
Urgcp G A 11: 5,716,091 T749I possibly damaging Het
Vmn2r60 A G 7: 42,136,594 I274V probably benign Het
Vps11 A G 9: 44,356,356 F40L probably benign Het
Ywhab A G 2: 164,015,275 I157V probably benign Het
Zfp638 G A 6: 83,942,875 R485H probably damaging Het
Zfp944 A G 17: 22,339,756 I170T probably benign 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
IGL03122:Scel APN 14 103599406 missense possibly damaging 0.66
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