Incidental Mutation 'PIT4585001:Scel'
ID 556626
Institutional Source Beutler Lab
Gene Symbol Scel
Ensembl Gene ENSMUSG00000022123
Gene Name sciellin
Synonyms 9230114I02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4585001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 103750778-103850233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103829804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 462 (D462G)
Ref Sequence ENSEMBL: ENSMUSP00000093233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095576] [ENSMUST00000227322]
AlphaFold Q9EQG3
Predicted Effect possibly damaging
Transcript: ENSMUST00000095576
AA Change: D462G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: D462G

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: D442G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 93.6%
  • 3x: 91.2%
  • 10x: 86.5%
  • 20x: 76.8%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aurka T C 2: 172,199,117 (GRCm39) M318V probably benign Het
Cacna2d1 T A 5: 16,531,342 (GRCm39) D560E probably damaging Het
Ccdc148 T A 2: 58,872,988 (GRCm39) T202S probably benign Het
Cdc42bpb T C 12: 111,271,412 (GRCm39) D1149G probably damaging Het
Clasp1 T A 1: 118,390,285 (GRCm39) N156K probably damaging Het
Cox18 G A 5: 90,365,434 (GRCm39) T255I possibly damaging Het
Cse1l A G 2: 166,783,394 (GRCm39) T783A probably damaging Het
Dnajc16 T C 4: 141,491,996 (GRCm39) Y609C probably damaging Het
Doc2g A G 19: 4,056,630 (GRCm39) T339A probably benign Het
Eif5a T C 11: 69,808,896 (GRCm39) probably benign Het
Epha3 A G 16: 63,386,940 (GRCm39) probably null Het
Esco1 A T 18: 10,594,355 (GRCm39) C310* probably null Het
Fam222a A G 5: 114,749,101 (GRCm39) Y99C probably damaging Het
Fzd2 T C 11: 102,496,573 (GRCm39) L339P probably damaging Het
Gfral A T 9: 76,104,576 (GRCm39) N145K probably damaging Het
Gga1 T A 15: 78,777,990 (GRCm39) N618K probably benign Het
Gpatch3 T A 4: 133,310,397 (GRCm39) H447Q probably damaging Het
Gpn1 A T 5: 31,666,747 (GRCm39) R346* probably null Het
Gsg1 T C 6: 135,214,558 (GRCm39) E317G probably benign Het
Gsk3b A G 16: 38,004,816 (GRCm39) N129S probably damaging Het
Hmg20b G T 10: 81,184,789 (GRCm39) D94E possibly damaging Het
Kash5 C T 7: 44,849,695 (GRCm39) G76D probably benign Het
Klhdc9 T A 1: 171,187,386 (GRCm39) H204L possibly damaging Het
Klhl24 A G 16: 19,925,638 (GRCm39) I55M probably benign Het
Kmt2c T C 5: 25,520,104 (GRCm39) D2002G probably benign Het
Lama4 A G 10: 38,950,742 (GRCm39) N1015S probably damaging Het
Lpp T C 16: 24,580,697 (GRCm39) C263R probably benign Het
Lrp1b T C 2: 41,159,216 (GRCm39) I1689V Het
Mipep C A 14: 61,022,284 (GRCm39) Q50K probably benign Het
Mx1 T C 16: 97,257,454 (GRCm39) D101G probably benign Het
Nabp2 C G 10: 128,244,676 (GRCm39) E37Q possibly damaging Het
Nme6 A G 9: 109,671,104 (GRCm39) I115V possibly damaging Het
Nup93 A T 8: 94,970,355 (GRCm39) T85S probably benign Het
Oit3 T A 10: 59,266,835 (GRCm39) I224F possibly damaging Het
Parp14 T C 16: 35,678,975 (GRCm39) K331R probably benign Het
Pls1 T A 9: 95,643,443 (GRCm39) T519S probably benign Het
Rcn3 A G 7: 44,736,118 (GRCm39) F197L probably benign Het
Rnf213 C T 11: 119,349,218 (GRCm39) T3773I Het
Rprd1b A T 2: 157,889,877 (GRCm39) I153L probably benign Het
Sh3bp1 C T 15: 78,794,276 (GRCm39) S548L possibly damaging Het
Sim1 T A 10: 50,860,284 (GRCm39) Y715* probably null Het
Slc18a2 A T 19: 59,282,293 (GRCm39) Q500L possibly damaging Het
Slc5a8 T G 10: 88,722,365 (GRCm39) M66R probably damaging Het
Slco1a6 T C 6: 142,055,246 (GRCm39) T233A probably damaging Het
Smu1 T C 4: 40,739,623 (GRCm39) T396A probably benign Het
Tas2r104 T C 6: 131,662,521 (GRCm39) T63A possibly damaging Het
Tasor2 G A 13: 3,624,979 (GRCm39) A1657V possibly damaging Het
Top2a C T 11: 98,892,199 (GRCm39) A1088T probably benign Het
Ucp1 T C 8: 84,020,577 (GRCm39) F129S probably damaging Het
Unc13b T A 4: 43,091,298 (GRCm39) D41E probably benign Het
Usp10 T G 8: 120,681,631 (GRCm39) V696G probably benign Het
Xylt2 C T 11: 94,557,066 (GRCm39) V745M probably damaging Het
Zbtb49 A T 5: 38,373,820 (GRCm39) N41K probably damaging Het
Zfp109 T A 7: 23,928,779 (GRCm39) D218V probably benign Het
Zfp420 G A 7: 29,575,430 (GRCm39) R550Q probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTAGACAGCACCATCAGAGG -3'
(R):5'- AGTTCAGGAAGAGTACAGTATGTC -3'

Sequencing Primer
(F):5'- CCATCAGAGGGAATCCTACAGG -3'
(R):5'- CAGGAAGAGTACAGTATGTCTCCTTG -3'
Posted On 2019-06-07