Incidental Mutation 'R6229:Enc1'
ID 504576
Institutional Source Beutler Lab
Gene Symbol Enc1
Ensembl Gene ENSMUSG00000041773
Gene Name ectodermal-neural cortex 1
Synonyms PIG10, Nrpb
MMRRC Submission 044358-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6229 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 97377613-97389542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97381999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 170 (R170G)
Ref Sequence ENSEMBL: ENSMUSP00000038783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041623]
AlphaFold O35709
Predicted Effect probably benign
Transcript: ENSMUST00000041623
AA Change: R170G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038783
Gene: ENSMUSG00000041773
AA Change: R170G

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
Meta Mutation Damage Score 0.1097 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency 99% (69/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G A 1: 120,099,213 (GRCm39) probably null Het
Adamts6 G A 13: 104,483,900 (GRCm39) probably null Het
Add3 C A 19: 53,223,277 (GRCm39) A343D probably benign Het
Ankub1 T C 3: 57,572,528 (GRCm39) D398G probably benign Het
Apbb1 C T 7: 105,222,937 (GRCm39) A225T probably damaging Het
Apbb1 C A 7: 105,222,938 (GRCm39) W224C probably damaging Het
Arhgef40 A T 14: 52,227,547 (GRCm39) Q431L probably benign Het
Calm4 A G 13: 3,888,038 (GRCm39) D48G possibly damaging Het
Ccdc18 A T 5: 108,319,484 (GRCm39) I502L probably benign Het
Cftr T C 6: 18,220,683 (GRCm39) S185P probably damaging Het
Chd2 C A 7: 73,101,471 (GRCm39) K1418N possibly damaging Het
Cmya5 A C 13: 93,229,814 (GRCm39) V1758G probably benign Het
Cpsf4l T C 11: 113,599,680 (GRCm39) K35R possibly damaging Het
Cyp2c68 A T 19: 39,727,622 (GRCm39) V119E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah3 G T 7: 119,564,711 (GRCm39) Q2651K probably benign Het
Eif4g2 T C 7: 110,676,920 (GRCm39) probably null Het
Enpp2 T C 15: 54,741,228 (GRCm39) R357G probably damaging Het
Epb41l2 A G 10: 25,375,734 (GRCm39) K58E possibly damaging Het
Fis1 A G 5: 136,994,528 (GRCm39) probably null Het
Fmo9 A C 1: 166,505,126 (GRCm39) M89R possibly damaging Het
Gm6096 A C 7: 33,950,676 (GRCm39) I72L possibly damaging Het
Golga5 G A 12: 102,450,740 (GRCm39) M464I probably benign Het
Got1l1 T C 8: 27,688,464 (GRCm39) probably null Het
Ift56 T A 6: 38,371,975 (GRCm39) N188K probably benign Het
Igfbpl1 A G 4: 45,813,517 (GRCm39) Y233H probably damaging Het
Il18r1 T C 1: 40,513,923 (GRCm39) I43T probably benign Het
Ints8 T C 4: 11,252,891 (GRCm39) N64D probably damaging Het
Kalrn A G 16: 33,875,441 (GRCm39) S44P probably damaging Het
Kif13b G T 14: 64,976,016 (GRCm39) G444W probably damaging Het
Lmo1 A G 7: 108,742,832 (GRCm39) C13R probably damaging Het
Lrfn2 T A 17: 49,404,160 (GRCm39) M761K possibly damaging Het
Lrrd1 T C 5: 3,913,887 (GRCm39) I719T probably damaging Het
Madd A T 2: 90,974,015 (GRCm39) V1423E probably damaging Het
Mbnl1 T A 3: 60,528,749 (GRCm39) probably null Het
Mrps28 T C 3: 8,965,097 (GRCm39) D114G probably damaging Het
Muc6 T A 7: 141,226,792 (GRCm39) M1412L probably benign Het
Myf6 T C 10: 107,330,280 (GRCm39) K96E possibly damaging Het
Myrf A G 19: 10,197,162 (GRCm39) V462A probably benign Het
Nbeal1 T C 1: 60,287,524 (GRCm39) S923P possibly damaging Het
Nckap1l T C 15: 103,381,549 (GRCm39) L430P possibly damaging Het
Nfatc2ip C T 7: 125,995,113 (GRCm39) probably null Het
Or11g24 A G 14: 50,662,662 (GRCm39) R229G probably benign Het
Or12e10 G T 2: 87,640,431 (GRCm39) C89F probably damaging Het
Or2w4 T C 13: 21,795,819 (GRCm39) I107V probably benign Het
Or7g33 T A 9: 19,449,014 (GRCm39) I71F possibly damaging Het
Plin2 A G 4: 86,586,903 (GRCm39) V5A probably benign Het
Pramel31 T C 4: 144,090,199 (GRCm39) M413T probably benign Het
Ptprm T A 17: 66,995,295 (GRCm39) D1311V probably damaging Het
Recql5 A T 11: 115,821,540 (GRCm39) I72N probably damaging Het
Sall2 A T 14: 52,550,648 (GRCm39) M847K probably benign Het
Slc23a1 T C 18: 35,752,577 (GRCm39) R567G probably benign Het
Slc28a1 G A 7: 80,774,753 (GRCm39) R200H probably benign Het
Smc4 T A 3: 68,937,580 (GRCm39) Y843* probably null Het
Syne2 C A 12: 75,967,994 (GRCm39) Q915K probably benign Het
Tas2r131 T A 6: 132,933,985 (GRCm39) I275F probably damaging Het
Tcf20 T C 15: 82,739,081 (GRCm39) H790R probably damaging Het
Tm7sf3 A G 6: 146,514,887 (GRCm39) F310S possibly damaging Het
Tmem9b T A 7: 109,344,627 (GRCm39) probably null Het
Tnfaip8 A G 18: 50,184,742 (GRCm39) probably benign Het
Top2b T G 14: 16,409,838 (GRCm38) L835R probably damaging Het
Trappc8 A T 18: 21,003,802 (GRCm39) S209T probably benign Het
Uap1 C T 1: 169,994,302 (GRCm39) R58Q probably benign Het
Upk3bl A G 5: 136,092,915 (GRCm39) probably null Het
Usp34 A G 11: 23,396,778 (GRCm39) H596R probably damaging Het
Vmn1r181 C T 7: 23,683,580 (GRCm39) A15V probably damaging Het
Vmn2r54 T A 7: 12,365,883 (GRCm39) K350N probably benign Het
Vmn2r89 A G 14: 51,693,178 (GRCm39) H176R probably benign Het
Vwa7 A G 17: 35,243,241 (GRCm39) R640G probably benign Het
Other mutations in Enc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Enc1 APN 13 97,381,822 (GRCm39) missense probably benign 0.00
IGL02010:Enc1 APN 13 97,381,588 (GRCm39) missense possibly damaging 0.84
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
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
Predicted Primers PCR Primer
(F):5'- CACCCAGAAGTCTTAGAGCTGC -3'
(R):5'- AGTAGCGCTTCTTCAGGTCATAG -3'

Sequencing Primer
(F):5'- CCAGAAGTCTTAGAGCTGCTTCTAG -3'
(R):5'- AGGTCATAGCTGATCCAGTTCATCG -3'
Posted On 2018-02-28