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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |