Incidental Mutation 'IGL02186:Scel'
ID 283650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scel
Ensembl Gene ENSMUSG00000022123
Gene Name sciellin
Synonyms 9230114I02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02186
Quality Score
Status
Chromosome 14
Chromosomal Location 103513342-103612797 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103564821 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 219 (A219V)
Ref Sequence ENSEMBL: ENSMUSP00000154402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095576] [ENSMUST00000227322]
AlphaFold Q9EQG3
Predicted Effect probably benign
Transcript: ENSMUST00000095576
AA Change: A219V

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: A219V

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: A219V

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 65,988,468 F100S unknown Het
Abca3 A G 17: 24,377,740 Y389C possibly damaging Het
Acrbp G T 6: 125,054,810 probably null Het
Adam21 G A 12: 81,559,209 T593I possibly damaging Het
Adipor1 T A 1: 134,425,960 M161K probably benign Het
Agrp A T 8: 105,567,189 N48K probably benign Het
Asprv1 A T 6: 86,628,918 M249L probably damaging Het
Begain A G 12: 109,033,352 Y703H probably damaging Het
Bspry T A 4: 62,495,989 probably benign Het
Cct8l1 T G 5: 25,516,838 S184A probably benign Het
Cdk13 C T 13: 17,772,527 V549I probably benign Het
Cdyl2 C T 8: 116,579,286 R412Q possibly damaging Het
Celf6 T C 9: 59,603,525 S205P probably damaging Het
Cltc G A 11: 86,704,985 A1263V possibly damaging Het
Cltc C A 11: 86,704,986 A1263S possibly damaging Het
Ctnnd2 T A 15: 30,480,793 F62L probably damaging Het
Dlec1 T A 9: 119,143,627 C1473S probably benign Het
Dmbt1 T A 7: 131,093,256 probably benign Het
Dnase1 G A 16: 4,039,032 V176I probably benign Het
Dusp1 G T 17: 26,507,058 Y220* probably null Het
Enpp3 A C 10: 24,791,983 probably benign Het
Exosc10 T C 4: 148,565,298 L395P probably damaging Het
Fn1 T C 1: 71,638,534 K533R probably damaging Het
Gcm2 T A 13: 41,104,649 T168S possibly damaging Het
Gm9924 C A 5: 31,095,147 probably benign Het
Ifrd1 A G 12: 40,214,093 V101A probably benign Het
Iqsec1 G T 6: 90,676,877 Q629K probably damaging Het
Kcnma1 T A 14: 23,526,813 M254L probably benign Het
Krit1 T C 5: 3,809,733 probably benign Het
Letm1 T C 5: 33,745,047 K633E probably benign Het
Mfsd1 A G 3: 67,596,595 I307V probably benign Het
Mtrr T C 13: 68,564,357 T637A probably benign Het
Naxe C A 3: 88,056,998 D212Y probably damaging Het
Nlk A T 11: 78,586,936 V327D probably damaging Het
Olfr1131 A T 2: 87,629,371 I187F probably benign Het
Olfr38 A G 6: 42,762,946 K298R probably null Het
Pdzd8 C T 19: 59,300,628 G780D probably damaging Het
Prune1 T C 3: 95,259,237 probably benign Het
Qser1 A T 2: 104,788,261 H645Q probably damaging Het
Rd3l A G 12: 111,979,467 Y193H probably benign Het
Reln A G 5: 21,909,958 Y3119H probably damaging Het
Skint11 A T 4: 114,244,636 Q91L possibly damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc5a5 C A 8: 70,886,120 D516Y possibly damaging Het
Slc8b1 G A 5: 120,527,863 probably null Het
Slc9a3 A G 13: 74,163,114 E576G possibly damaging Het
Slco1b2 A T 6: 141,634,545 probably benign Het
Smc5 A G 19: 23,231,859 V647A probably damaging Het
Snph T C 2: 151,594,343 N222D possibly damaging Het
Srbd1 A G 17: 86,109,231 F500L probably benign Het
Stxbp6 T C 12: 44,902,023 D101G probably damaging Het
Taar7b A G 10: 23,999,981 I15V probably benign Het
Tdrd12 G T 7: 35,501,401 N338K probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tmem219 A T 7: 126,896,816 D128E probably benign Het
Togaram2 A G 17: 71,685,171 T3A possibly damaging Het
Ttn C T 2: 76,894,283 probably benign Het
Uchl1 C A 5: 66,677,039 C47* probably null Het
Unc79 T G 12: 103,011,283 S182A probably benign Het
Vmn2r1 A G 3: 64,081,717 T26A probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vps54 T C 11: 21,306,947 V685A probably damaging Het
Zcchc7 T G 4: 44,762,250 V126G possibly damaging Het
Zmym2 A G 14: 56,943,351 T907A 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
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
R8924:Scel UTSW 14 103592371 missense possibly damaging 0.66
R9014:Scel UTSW 14 103585139 missense probably benign
R9130:Scel UTSW 14 103533310 missense probably benign 0.05
R9135:Scel UTSW 14 103602190 missense probably benign
R9179:Scel UTSW 14 103574400 missense possibly damaging 0.79
R9614:Scel UTSW 14 103605596 missense probably damaging 1.00
R9638:Scel UTSW 14 103541973 missense possibly damaging 0.89
R9672:Scel UTSW 14 103599402 missense possibly damaging 0.82
R9719:Scel UTSW 14 103572006 critical splice acceptor site probably null
X0026:Scel UTSW 14 103591993 missense possibly damaging 0.46
Posted On 2015-04-16