Incidental Mutation 'IGL01086:Scel'
ID 52664
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scel
Ensembl Gene ENSMUSG00000022123
Gene Name sciellin
Synonyms 9230114I02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01086
Quality Score
Status
Chromosome 14
Chromosomal Location 103750778-103850233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103849827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 631 (I631V)
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: I651V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: I651V

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: I631V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,796,729 (GRCm39) R104S probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Aim2 A G 1: 173,282,999 (GRCm39) Y27C probably damaging Het
Apol7b T C 15: 77,308,114 (GRCm39) E127G probably damaging Het
Atp10a T C 7: 58,474,066 (GRCm39) F1118L probably damaging Het
Cacna1e T C 1: 154,347,347 (GRCm39) D940G probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Clip4 G A 17: 72,131,789 (GRCm39) V376I probably benign Het
Cmklr2 T C 1: 63,222,650 (GRCm39) E195G probably benign Het
Coro6 C A 11: 77,357,374 (GRCm39) C194* probably null Het
Crebbp T C 16: 3,997,416 (GRCm39) M223V probably benign Het
Dkk4 T A 8: 23,116,857 (GRCm39) C157S probably damaging Het
Dnah14 T C 1: 181,579,611 (GRCm39) L3048S probably benign Het
Dscaml1 T C 9: 45,613,960 (GRCm39) probably benign Het
Gria2 T C 3: 80,599,688 (GRCm39) Y732C probably damaging Het
Igkv4-59 T C 6: 69,415,707 (GRCm39) I7V probably benign Het
Lamc3 T C 2: 31,788,488 (GRCm39) F216S probably damaging Het
Lcn6 T C 2: 25,570,792 (GRCm39) F61L probably benign Het
Nup205 T A 6: 35,185,871 (GRCm39) probably benign Het
Or5w18 T A 2: 87,633,544 (GRCm39) Y266* probably null Het
Otof C T 5: 30,533,617 (GRCm39) probably null Het
Pik3c2b T C 1: 133,019,356 (GRCm39) C1035R probably damaging Het
Pla1a T C 16: 38,227,984 (GRCm39) N298D probably benign Het
Poteg T A 8: 27,963,648 (GRCm39) probably benign Het
Pwp1 T C 10: 85,715,757 (GRCm39) probably null Het
Scn3a T A 2: 65,300,503 (GRCm39) M1288L probably benign Het
Serpina11 T A 12: 103,952,329 (GRCm39) D147V probably damaging Het
Shroom3 T A 5: 93,096,311 (GRCm39) C1266S probably benign Het
Slc12a7 A G 13: 73,962,962 (GRCm39) Y1054C probably damaging Het
Srms A G 2: 180,854,216 (GRCm39) V117A probably damaging Het
Tmem161b T C 13: 84,370,541 (GRCm39) probably benign Het
Tmem94 A T 11: 115,681,110 (GRCm39) T158S probably benign Het
Tomm40l T C 1: 171,047,878 (GRCm39) probably null Het
Traf6 A G 2: 101,515,128 (GRCm39) I95V probably benign Het
Ttc13 A G 8: 125,402,085 (GRCm39) I686T probably damaging Het
Zmat2 C T 18: 36,929,163 (GRCm39) H104Y probably 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
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
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
Posted On 2013-06-21