Incidental Mutation 'IGL02642:Enc1'
ID301775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enc1
Ensembl Gene ENSMUSG00000041773
Gene Nameectodermal-neural cortex 1
SynonymsNrpb, PIG10
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02642
Quality Score
Status
Chromosome13
Chromosomal Location97241105-97253034 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 97245534 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 184 (D184A)
Ref Sequence ENSEMBL: ENSMUSP00000038783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041623]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041623
AA Change: D184A

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038783
Gene: ENSMUSG00000041773
AA Change: D184A

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,939,083 D68G probably damaging Het
Aes A T 10: 81,561,292 Q34L possibly damaging Het
Amer3 A G 1: 34,586,680 probably benign Het
Ankrd11 A G 8: 122,890,651 L2133P probably damaging Het
Bcdin3d G T 15: 99,470,792 H175Q probably damaging Het
Brd8 C A 18: 34,608,064 probably benign Het
C1rl C A 6: 124,493,847 T38N possibly damaging Het
Cd160 T C 3: 96,800,611 T140A probably benign Het
Cdk16 T G X: 20,696,928 D381E probably benign Het
Cpq G A 15: 33,381,400 G303D probably damaging Het
Dmp1 T C 5: 104,211,670 S71P probably damaging Het
Enkur T C 2: 21,194,387 D112G probably benign Het
Esrra A T 19: 6,912,850 V59E possibly damaging Het
F830016B08Rik A G 18: 60,299,986 N47S probably benign Het
Fads1 T A 19: 10,186,421 V189D probably damaging Het
Fam160b1 A G 19: 57,385,350 N681D possibly damaging Het
Fam167a T A 14: 63,452,272 I6N probably damaging Het
Fam98b A G 2: 117,260,312 T164A probably benign Het
Fryl T A 5: 73,095,466 I953L probably benign Het
Gm10610 T A 7: 83,549,605 noncoding transcript Het
Grik5 G T 7: 25,058,983 N338K possibly damaging Het
Gstt2 A G 10: 75,832,818 I72T probably benign Het
Gusb T C 5: 130,000,535 probably null Het
Hccs A G X: 169,315,592 probably benign Het
Hoxb4 A G 11: 96,320,224 K217E probably damaging Het
Hpd C T 5: 123,181,440 V22I possibly damaging Het
Ighv1-47 A G 12: 114,991,224 Y79H probably damaging Het
Il7r C A 15: 9,513,047 probably benign Het
Lama1 A T 17: 67,812,366 M2613L probably benign Het
Lama2 G A 10: 27,467,273 H68Y probably damaging Het
Lce1c C A 3: 92,680,538 probably benign Het
Lmx1a G T 1: 167,844,623 probably benign Het
Lrfn1 T C 7: 28,458,688 probably benign Het
Lrriq1 T A 10: 103,221,461 probably null Het
Mri1 A T 8: 84,257,073 L63Q probably damaging Het
Mrps11 G T 7: 78,788,774 probably null Het
Mtif2 C A 11: 29,544,395 Q666K probably benign Het
Mtr A T 13: 12,195,232 probably benign Het
Mug1 A G 6: 121,882,585 N1181S probably benign Het
Myom1 A T 17: 71,101,098 E1209V possibly damaging Het
Nhsl1 A G 10: 18,408,390 I26M possibly damaging Het
Nlrp1a T A 11: 71,123,532 K297N probably benign Het
Obox5 T C 7: 15,758,047 V129A probably benign Het
Pex16 C T 2: 92,376,636 A53V probably damaging Het
Pfpl T C 19: 12,429,743 F453L probably damaging Het
Pip5k1b G T 19: 24,346,367 H406N probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plcxd3 T C 15: 4,516,640 F42S possibly damaging Het
Pnpla7 T C 2: 25,050,276 F1056L probably benign Het
Rapgef1 T C 2: 29,700,860 probably benign Het
Rdh11 G A 12: 79,185,336 probably benign Het
Serac1 A G 17: 6,045,746 F576S possibly damaging Het
Slc45a4 A T 15: 73,586,815 M295K probably benign Het
Taf1c T C 8: 119,599,057 T689A probably benign Het
Timm10b G T 7: 105,668,438 probably benign Het
Tnc A T 4: 63,965,579 probably benign Het
Toporsl T C 4: 52,611,114 W336R probably benign Het
Usp54 C A 14: 20,565,072 probably benign Het
Vmn1r233 T C 17: 20,994,029 R220G probably damaging Het
Other mutations in Enc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Enc1 APN 13 97245314 missense probably benign 0.00
IGL02010:Enc1 APN 13 97245080 missense possibly damaging 0.84
IGL03342:Enc1 APN 13 97246470 missense possibly damaging 0.64
R1305:Enc1 UTSW 13 97246700 missense possibly damaging 0.58
R1419:Enc1 UTSW 13 97246184 missense probably damaging 1.00
R1733:Enc1 UTSW 13 97245042 missense possibly damaging 0.63
R1796:Enc1 UTSW 13 97246483 missense probably benign 0.00
R1796:Enc1 UTSW 13 97246485 missense possibly damaging 0.58
R1823:Enc1 UTSW 13 97245978 missense possibly damaging 0.64
R4107:Enc1 UTSW 13 97245138 missense probably damaging 1.00
R4324:Enc1 UTSW 13 97245897 missense probably benign 0.21
R4922:Enc1 UTSW 13 97245735 missense probably benign 0.08
R5942:Enc1 UTSW 13 97246379 missense probably benign 0.28
R5951:Enc1 UTSW 13 97245257 missense probably benign 0.02
R6229:Enc1 UTSW 13 97245491 missense probably benign
R6985:Enc1 UTSW 13 97245120 missense possibly damaging 0.92
R6987:Enc1 UTSW 13 97245636 missense probably benign 0.14
R7307:Enc1 UTSW 13 97245093 missense probably damaging 1.00
R7442:Enc1 UTSW 13 97246740 missense probably benign 0.02
Posted On2015-04-16