Incidental Mutation 'IGL01396:Scel'
ID79472
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 #IGL01396
Quality Score
Status
Chromosome14
Chromosomal Location103513342-103612797 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 103608094 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095576] [ENSMUST00000227322]
Predicted Effect probably benign
Transcript: ENSMUST00000095576
SMART Domains Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 87,972,790 Y469N probably benign Het
Actl11 T C 9: 107,928,765 S96P possibly damaging Het
Ankrd13b T A 11: 77,472,372 probably null Het
Apobec4 T A 1: 152,756,266 I15K probably damaging Het
Arhgef28 G T 13: 97,953,893 D1039E probably damaging Het
Atp1a1 C T 3: 101,591,453 G175R probably damaging Het
AU040320 T A 4: 126,869,378 probably benign Het
Bcl9l G A 9: 44,506,824 R653H probably damaging Het
Ccdc141 T A 2: 77,128,325 I144L possibly damaging Het
Cdh20 C T 1: 104,947,429 T312I possibly damaging Het
Cdh23 C T 10: 60,385,069 V1297I possibly damaging Het
Cfap57 T C 4: 118,610,595 Y315C probably damaging Het
Chd8 A G 14: 52,204,587 probably benign Het
Cog5 A G 12: 31,894,096 D660G probably benign Het
Cps1 T C 1: 67,157,786 I332T probably damaging Het
Csgalnact2 T C 6: 118,126,327 T225A probably damaging Het
Dchs1 A G 7: 105,772,283 L310P probably damaging Het
Dgki T C 6: 37,000,090 N695S probably damaging Het
Gas7 T A 11: 67,652,914 probably null Het
Gm21286 T C 4: 60,838,324 noncoding transcript Het
Gm4799 C T 10: 82,954,684 noncoding transcript Het
Hdac4 T C 1: 91,959,474 probably benign Het
Hif1a T A 12: 73,940,533 S467T probably benign Het
Ier5 A G 1: 155,098,550 V294A probably damaging Het
Ifna11 T C 4: 88,820,077 V40A probably benign Het
Itga9 T C 9: 118,607,123 probably benign Het
Lbx1 G T 19: 45,234,231 Q118K probably benign Het
Lta A T 17: 35,204,085 probably null Het
Matr3 A G 18: 35,588,389 Y471C probably damaging Het
Nrg2 A T 18: 36,045,852 probably benign Het
Olfr1156 G T 2: 87,949,863 F123L probably damaging Het
Olfr1195 C T 2: 88,683,231 C167Y probably damaging Het
Olfr1301 T A 2: 111,754,603 M118K probably damaging Het
Olfr1301 T C 2: 111,754,503 F85L probably benign Het
Patl1 A G 19: 11,923,883 K299R probably damaging Het
Pdgfrb A G 18: 61,072,664 E574G probably damaging Het
Phf3 G A 1: 30,804,305 Q1858* probably null Het
Prkca T C 11: 108,014,322 K197E possibly damaging Het
Psmc6 C A 14: 45,343,667 Q307K probably benign Het
Rasa1 T C 13: 85,258,442 I181V probably benign Het
Scn5a A T 9: 119,534,704 S457T probably damaging Het
Sesn3 A G 9: 14,321,078 T216A probably benign Het
Slc25a21 A G 12: 57,159,189 V19A probably benign Het
Slc34a1 A G 13: 55,402,733 T81A probably damaging Het
Slc35a5 A G 16: 45,151,503 Y117H probably damaging Het
Sptbn4 A G 7: 27,414,771 V569A probably benign Het
Sqle A G 15: 59,323,874 Y333C probably damaging Het
Svep1 T C 4: 58,068,552 E3078G possibly damaging Het
Tacc2 T A 7: 130,759,189 I2737N probably damaging Het
Tet3 A T 6: 83,369,638 Y1272* probably null Het
Tnr G T 1: 159,897,024 R1095L possibly damaging Het
Vmn1r184 T C 7: 26,267,437 S203P probably damaging Het
Vmn2r94 A G 17: 18,257,039 L370P probably damaging Het
Xrcc5 A G 1: 72,354,245 H559R 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
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
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 On2013-11-05