Incidental Mutation 'R0863:Scel'
ID 82220
Institutional Source Beutler Lab
Gene Symbol Scel
Ensembl Gene ENSMUSG00000022123
Gene Name sciellin
Synonyms 9230114I02Rik
MMRRC Submission 039037-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0863 (G1)
Quality Score 218
Status Validated
Chromosome 14
Chromosomal Location 103750778-103850233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103823916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 381 (S381R)
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: S401R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: S401R

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: S381R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 94% (59/63)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik A G 7: 44,327,232 (GRCm39) noncoding transcript Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abca14 A T 7: 119,815,453 (GRCm39) T234S probably benign Het
Acap1 C A 11: 69,777,882 (GRCm39) V119L probably damaging Het
Actr2 C T 11: 20,030,760 (GRCm39) V163I probably benign Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Arnt2 T A 7: 83,914,792 (GRCm39) K524M probably damaging Het
Brca1 T C 11: 101,415,596 (GRCm39) Y846C probably benign Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Cep350 T A 1: 155,737,981 (GRCm39) I2621L probably benign Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fank1 A G 7: 133,482,352 (GRCm39) R73G possibly damaging Het
Fes A T 7: 80,030,634 (GRCm39) W552R probably damaging Het
Fsd2 A G 7: 81,191,913 (GRCm39) V488A possibly damaging Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gm9493 A T 19: 23,597,173 (GRCm39) Q23L probably benign Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Lonp1 T C 17: 56,925,331 (GRCm39) K487R probably damaging Het
Ltbp1 A G 17: 75,559,381 (GRCm39) Y290C probably damaging Het
Ms4a10 C T 19: 10,945,957 (GRCm39) G58D probably damaging Het
Muc5b A G 7: 141,421,454 (GRCm39) S4315G probably benign Het
Nlrp1b T A 11: 71,072,173 (GRCm39) T557S probably benign Het
Nlrp3 A G 11: 59,456,676 (GRCm39) D946G probably benign Het
Obscn T C 11: 58,886,241 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or10ab5 A G 7: 108,244,865 (GRCm39) I306T probably benign Het
Or5p50 T C 7: 107,422,581 (GRCm39) S32G probably benign Het
Or7e173 A T 9: 19,938,509 (GRCm39) S242T probably damaging Het
Pask A T 1: 93,242,061 (GRCm39) F1219I probably damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plec G A 15: 76,058,280 (GRCm39) Q3751* probably null Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Sema4a C T 3: 88,355,456 (GRCm39) probably benign Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Spag1 G T 15: 36,192,193 (GRCm39) K217N probably damaging Het
Ssh1 C T 5: 114,104,792 (GRCm39) R9H probably damaging Het
St3gal4 C A 9: 34,964,744 (GRCm39) V155F probably damaging Het
Stxbp5 C T 10: 9,684,784 (GRCm39) E539K possibly damaging Het
Tbc1d7 G T 13: 43,308,161 (GRCm39) probably benign Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Ttc21b T C 2: 66,073,117 (GRCm39) I190V probably benign Het
Ttn T C 2: 76,537,391 (GRCm39) T34846A probably benign Het
Ube4a A G 9: 44,861,114 (GRCm39) V232A possibly damaging Het
Uri1 A T 7: 37,669,100 (GRCm39) D122E probably damaging Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zan T A 5: 137,456,901 (GRCm39) E1278D unknown Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R 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
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
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
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'- CGTGTCTCAATTCTTATGAAGCTCCTCC -3'
(R):5'- TGCCCAGCGATCCTCCACC -3'

Sequencing Primer
(F):5'- cacacacacacactcacac -3'
(R):5'- CTGTACTTAAGACTAAGAGAAGGCCC -3'
Posted On 2013-11-08