Incidental Mutation 'R6001:Keap1'
ID 480838
Institutional Source Beutler Lab
Gene Symbol Keap1
Ensembl Gene ENSMUSG00000003308
Gene Name kelch-like ECH-associated protein 1
Synonyms INrf2, ring canal protein
MMRRC Submission 044180-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R6001 (G1)
Quality Score 157.009
Status Not validated
Chromosome 9
Chromosomal Location 21141026-21150628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21142135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 580 (S580G)
Ref Sequence ENSEMBL: ENSMUSP00000141807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049567] [ENSMUST00000164812] [ENSMUST00000193982] [ENSMUST00000194542] [ENSMUST00000216436]
AlphaFold Q9Z2X8
Predicted Effect possibly damaging
Transcript: ENSMUST00000049567
AA Change: S580G

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062467
Gene: ENSMUSG00000003308
AA Change: S580G

DomainStartEndE-ValueType
BTB 77 179 1.33e-25 SMART
BACK 184 286 2.19e-34 SMART
Kelch 327 372 4.2e-11 SMART
Kelch 373 423 4.1e-14 SMART
Kelch 424 470 5.12e-15 SMART
Kelch 471 517 1.02e-18 SMART
Kelch 518 564 1.23e-17 SMART
Kelch 565 611 7.58e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000164812
AA Change: S580G

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131029
Gene: ENSMUSG00000003308
AA Change: S580G

DomainStartEndE-ValueType
BTB 77 179 1.33e-25 SMART
BACK 184 286 2.19e-34 SMART
Kelch 327 372 4.2e-11 SMART
Kelch 373 423 4.1e-14 SMART
Kelch 424 470 5.12e-15 SMART
Kelch 471 517 1.02e-18 SMART
Kelch 518 564 1.23e-17 SMART
Kelch 565 611 7.58e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193875
Predicted Effect possibly damaging
Transcript: ENSMUST00000193982
AA Change: S580G

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141840
Gene: ENSMUSG00000003308
AA Change: S580G

DomainStartEndE-ValueType
BTB 77 179 1.33e-25 SMART
BACK 184 286 2.19e-34 SMART
Kelch 327 372 4.2e-11 SMART
Kelch 373 423 4.1e-14 SMART
Kelch 424 470 5.12e-15 SMART
Kelch 471 517 1.02e-18 SMART
Kelch 518 564 1.23e-17 SMART
Kelch 565 611 7.58e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000194542
AA Change: S580G

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141807
Gene: ENSMUSG00000003308
AA Change: S580G

DomainStartEndE-ValueType
BTB 77 179 1.33e-25 SMART
BACK 184 286 2.19e-34 SMART
Kelch 327 372 4.2e-11 SMART
Kelch 373 423 4.1e-14 SMART
Kelch 424 470 5.12e-15 SMART
Kelch 471 517 1.02e-18 SMART
Kelch 518 564 1.23e-17 SMART
Kelch 565 611 7.58e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000216436
AA Change: S576G

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit scaly skin, hyperkeratosis of the esophagus and stomach mucosa, and die around 3 weeks of age, putatively due to malnutrition resulting from the abnormal alimentary epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G T 4: 53,075,555 (GRCm39) R999S possibly damaging Het
Ankrd31 T A 13: 96,962,717 (GRCm39) Y503N probably damaging Het
Anks4b A G 7: 119,781,941 (GRCm39) E324G probably benign Het
Arhgap44 CTGCT CTGCTTGCT 11: 64,922,910 (GRCm39) probably null Het
Atl1 A T 12: 69,979,057 (GRCm39) T162S possibly damaging Het
Atp2b2 A G 6: 113,770,728 (GRCm39) Y394H probably damaging Het
Dennd2d A G 3: 106,399,776 (GRCm39) H233R probably benign Het
Dhx16 G T 17: 36,194,766 (GRCm39) M462I probably damaging Het
Hif3a T C 7: 16,784,486 (GRCm39) Y253C probably damaging Het
Hsf4 G A 8: 105,999,541 (GRCm39) G277R possibly damaging Het
Impg1 T C 9: 80,223,454 (GRCm39) D754G probably benign Het
Lrp6 T C 6: 134,441,481 (GRCm39) K1162E probably benign Het
Lrrc31 C T 3: 30,745,318 (GRCm39) V110I possibly damaging Het
Muc5b G T 7: 141,426,118 (GRCm39) K4738N possibly damaging Het
Myo1a G T 10: 127,542,794 (GRCm39) probably null Het
Odad2 T C 18: 7,286,838 (GRCm39) D131G probably benign Het
Or10q1b A G 19: 13,682,424 (GRCm39) T78A probably damaging Het
Or52z14 T A 7: 103,253,179 (GRCm39) M106K probably damaging Het
Or7g19 A T 9: 18,856,340 (GRCm39) Y132F probably damaging Het
Parp4 A T 14: 56,878,740 (GRCm39) H1225L probably benign Het
Pcgf2 T C 11: 97,583,606 (GRCm39) Y52C possibly damaging Het
Pkn3 T C 2: 29,978,596 (GRCm39) probably null Het
Psen2 C A 1: 180,073,234 (GRCm39) R29L possibly damaging Het
Rfx6 A G 10: 51,594,307 (GRCm39) probably null Het
Rps13 T C 7: 115,930,808 (GRCm39) T145A probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsf1 A ACGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Smarca4 C T 9: 21,544,205 (GRCm39) probably benign Het
Stat4 A T 1: 52,136,026 (GRCm39) E445V probably damaging Het
Taf13 T A 3: 108,488,387 (GRCm39) I90N probably damaging Het
Tas2r124 T A 6: 132,732,416 (GRCm39) Y242N probably damaging Het
Tmem151b T C 17: 45,856,711 (GRCm39) Y243C probably damaging Het
Wasl T C 6: 24,619,573 (GRCm39) T316A unknown Het
Zbtb44 T C 9: 30,965,090 (GRCm39) C167R probably damaging Het
Zc3h7b T C 15: 81,676,236 (GRCm39) L714P possibly damaging Het
Zfp35 T A 18: 24,135,816 (GRCm39) H53Q probably benign Het
Zfp804b A G 5: 6,819,043 (GRCm39) V1340A probably benign Het
Other mutations in Keap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
cubs UTSW 9 21,148,849 (GRCm39) missense probably benign 0.07
R1917:Keap1 UTSW 9 21,145,102 (GRCm39) missense probably benign
R4296:Keap1 UTSW 9 21,145,282 (GRCm39) missense probably damaging 1.00
R4590:Keap1 UTSW 9 21,148,905 (GRCm39) missense probably damaging 0.97
R4723:Keap1 UTSW 9 21,142,706 (GRCm39) missense probably benign 0.15
R4947:Keap1 UTSW 9 21,148,849 (GRCm39) missense probably benign 0.07
R4952:Keap1 UTSW 9 21,148,582 (GRCm39) missense probably damaging 1.00
R5024:Keap1 UTSW 9 21,148,522 (GRCm39) missense probably damaging 1.00
R6508:Keap1 UTSW 9 21,143,010 (GRCm39) missense possibly damaging 0.67
R7075:Keap1 UTSW 9 21,142,552 (GRCm39) missense probably benign 0.30
R7184:Keap1 UTSW 9 21,145,134 (GRCm39) missense probably benign
R7520:Keap1 UTSW 9 21,144,787 (GRCm39) missense probably benign
R7531:Keap1 UTSW 9 21,148,623 (GRCm39) missense probably benign 0.20
R7811:Keap1 UTSW 9 21,148,956 (GRCm39) missense possibly damaging 0.92
R8424:Keap1 UTSW 9 21,142,086 (GRCm39) missense probably benign 0.00
R8976:Keap1 UTSW 9 21,142,663 (GRCm39) missense probably damaging 1.00
R9154:Keap1 UTSW 9 21,142,121 (GRCm39) nonsense probably null
R9521:Keap1 UTSW 9 21,143,136 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGTTGTCAGTGCTCAGG -3'
(R):5'- CTGAGTATAAAAGCCAGAGAGTCCC -3'

Sequencing Primer
(F):5'- CAGGTATTCCAAGTGCTTCAGCAG -3'
(R):5'- GGGCCGAAGCTCTACTACTAAG -3'
Posted On 2017-06-26