Incidental Mutation 'IGL02010:Enc1'
ID 183298
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enc1
Ensembl Gene ENSMUSG00000041773
Gene Name ectodermal-neural cortex 1
Synonyms PIG10, Nrpb
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02010
Quality Score
Status
Chromosome 13
Chromosomal Location 97377613-97389542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97381588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 33 (L33F)
Ref Sequence ENSEMBL: ENSMUSP00000038783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041623]
AlphaFold O35709
Predicted Effect possibly damaging
Transcript: ENSMUST00000041623
AA Change: L33F

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038783
Gene: ENSMUSG00000041773
AA Change: L33F

DomainStartEndE-ValueType
BTB 46 144 8.4e-32 SMART
BACK 149 251 7.5e-33 SMART
Kelch 296 340 3.89e0 SMART
Kelch 341 388 2.69e-9 SMART
Kelch 389 444 7.77e-15 SMART
Kelch 445 492 1.97e0 SMART
Kelch 493 538 2.9e-1 SMART
Kelch 539 585 1.5e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,110,442 (GRCm39) D569G probably benign Het
Abhd17b C T 19: 21,661,485 (GRCm39) T224I probably benign Het
Atf6b T A 17: 34,873,626 (GRCm39) S695R probably benign Het
Cdh6 A C 15: 13,034,276 (GRCm39) probably benign Het
Cep290 G T 10: 100,344,569 (GRCm39) C462F probably benign Het
Cep290 T C 10: 100,397,207 (GRCm39) S2156P probably benign Het
Cfap20dc A T 14: 8,578,384 (GRCm38) H119Q possibly damaging Het
Cit T C 5: 116,014,006 (GRCm39) F240L probably damaging Het
Col1a2 T A 6: 4,512,416 (GRCm39) probably null Het
Ctcf T A 8: 106,391,597 (GRCm39) H297Q probably damaging Het
Dhx29 T C 13: 113,103,168 (GRCm39) probably null Het
Dhx37 T G 5: 125,495,777 (GRCm39) T835P possibly damaging Het
Epyc T A 10: 97,485,563 (GRCm39) M1K probably null Het
F10 T C 8: 13,098,292 (GRCm39) I165T probably damaging Het
Fam124a T C 14: 62,824,728 (GRCm39) L74P probably damaging Het
Fam234b A G 6: 135,186,405 (GRCm39) S138G probably benign Het
Fam81a T C 9: 70,006,419 (GRCm39) K198E probably benign Het
Fbn2 T C 18: 58,170,794 (GRCm39) Y2199C probably damaging Het
Fign A C 2: 63,810,744 (GRCm39) S175R probably damaging Het
Grik1 T C 16: 87,848,396 (GRCm39) N124S possibly damaging Het
Hdac9 G T 12: 34,481,944 (GRCm39) L175M probably damaging Het
Hephl1 A C 9: 15,001,852 (GRCm39) Y163* probably null Het
Hes1 G A 16: 29,886,128 (GRCm39) G244D probably damaging Het
Hexb A G 13: 97,313,353 (GRCm39) L501P probably benign Het
Igkv5-43 T C 6: 69,752,936 (GRCm39) I49V probably benign Het
Ipo5 T C 14: 121,170,789 (GRCm39) S491P probably benign Het
Jakmip2 C T 18: 43,692,158 (GRCm39) probably null Het
Lrfn5 A G 12: 61,886,469 (GRCm39) T86A probably damaging Het
Lrp1b T C 2: 41,358,954 (GRCm39) T640A probably damaging Het
M6pr G T 6: 122,292,085 (GRCm39) R139L possibly damaging Het
Myl9 A T 2: 156,620,579 (GRCm39) N39Y probably damaging Het
Nlrp3 A G 11: 59,440,361 (GRCm39) D646G probably benign Het
Nlrp5 A T 7: 23,116,797 (GRCm39) M174L probably benign Het
Nnmt T A 9: 48,503,331 (GRCm39) I232F probably damaging Het
Nrg1 T C 8: 32,408,171 (GRCm39) T21A probably benign Het
Or5t15 C T 2: 86,681,541 (GRCm39) C167Y possibly damaging Het
Or6c65 A G 10: 129,604,136 (GRCm39) Y257C probably benign Het
Pcare T A 17: 72,056,459 (GRCm39) T1073S probably benign Het
Pcdh7 T G 5: 58,286,597 (GRCm39) N1224K probably benign Het
Pde4a T C 9: 21,114,850 (GRCm39) probably null Het
Pfkfb3 T C 2: 11,488,805 (GRCm39) T320A probably benign Het
Plekhm2 T C 4: 141,364,730 (GRCm39) probably benign Het
Rabgap1l C T 1: 160,299,641 (GRCm39) R584H probably damaging Het
Rnf157 T A 11: 116,287,052 (GRCm39) N57I probably damaging Het
Rtf1 G A 2: 119,531,747 (GRCm39) probably null Het
Sap130 C A 18: 31,782,655 (GRCm39) R189S probably damaging Het
Slc34a1 T G 13: 24,003,025 (GRCm39) V225G probably benign Het
Smg1 T C 7: 117,785,369 (GRCm39) probably benign Het
Tecta G A 9: 42,248,489 (GRCm39) T1971I probably damaging Het
Tlcd5 A T 9: 43,022,859 (GRCm39) V165E probably damaging Het
Tmem263 T A 10: 84,950,274 (GRCm39) S22T probably benign Het
Tnrc18 A T 5: 142,773,049 (GRCm39) F410L unknown Het
Ttc27 T G 17: 75,087,906 (GRCm39) probably benign Het
Vmn1r45 A T 6: 89,910,668 (GRCm39) C101S probably damaging Het
Wdr17 T C 8: 55,112,738 (GRCm39) K781E probably damaging Het
Xkr6 C T 14: 64,056,653 (GRCm39) T188M probably benign Het
Other mutations in Enc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Enc1 APN 13 97,381,822 (GRCm39) missense probably benign 0.00
IGL02642:Enc1 APN 13 97,382,042 (GRCm39) missense possibly damaging 0.84
IGL03342:Enc1 APN 13 97,382,978 (GRCm39) missense possibly damaging 0.64
R1305:Enc1 UTSW 13 97,383,208 (GRCm39) missense possibly damaging 0.58
R1419:Enc1 UTSW 13 97,382,692 (GRCm39) missense probably damaging 1.00
R1733:Enc1 UTSW 13 97,381,550 (GRCm39) missense possibly damaging 0.63
R1796:Enc1 UTSW 13 97,382,993 (GRCm39) missense possibly damaging 0.58
R1796:Enc1 UTSW 13 97,382,991 (GRCm39) missense probably benign 0.00
R1823:Enc1 UTSW 13 97,382,486 (GRCm39) missense possibly damaging 0.64
R4107:Enc1 UTSW 13 97,381,646 (GRCm39) missense probably damaging 1.00
R4324:Enc1 UTSW 13 97,382,405 (GRCm39) missense probably benign 0.21
R4922:Enc1 UTSW 13 97,382,243 (GRCm39) missense probably benign 0.08
R5942:Enc1 UTSW 13 97,382,887 (GRCm39) missense probably benign 0.28
R5951:Enc1 UTSW 13 97,381,765 (GRCm39) missense probably benign 0.02
R6229:Enc1 UTSW 13 97,381,999 (GRCm39) missense probably benign
R6985:Enc1 UTSW 13 97,381,628 (GRCm39) missense possibly damaging 0.92
R6987:Enc1 UTSW 13 97,382,144 (GRCm39) missense probably benign 0.14
R7307:Enc1 UTSW 13 97,381,601 (GRCm39) missense probably damaging 1.00
R7442:Enc1 UTSW 13 97,383,248 (GRCm39) missense probably benign 0.02
R9329:Enc1 UTSW 13 97,383,018 (GRCm39) nonsense probably null
Posted On 2014-05-07