Incidental Mutation 'R1305:Enc1'
| ID |
157785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enc1
|
| Ensembl Gene |
ENSMUSG00000041773 |
| Gene Name |
ectodermal-neural cortex 1 |
| Synonyms |
PIG10, Nrpb |
| MMRRC Submission |
039371-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1305 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
97377613-97389542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97383208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 573
(Y573H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041623]
|
| AlphaFold |
O35709 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041623
AA Change: Y573H
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038783
Gene: ENSMUSG00000041773
AA Change: Y573H
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
- 1x: 98.9%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2 |
G |
A |
5: 121,887,247 (GRCm39) |
V306I |
probably damaging |
Het |
| Gm9869 |
T |
C |
9: 60,729,168 (GRCm39) |
|
probably benign |
Het |
| Ifna2 |
T |
C |
4: 88,601,614 (GRCm39) |
T135A |
probably benign |
Het |
| Ifngr1 |
C |
T |
10: 19,482,001 (GRCm39) |
T197M |
possibly damaging |
Het |
| Kcnj4 |
A |
T |
15: 79,369,020 (GRCm39) |
V320E |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,464,554 (GRCm39) |
I1648N |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,694,890 (GRCm39) |
M435L |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,581,880 (GRCm39) |
|
probably null |
Het |
| Mex3c |
T |
A |
18: 73,723,306 (GRCm39) |
F466L |
probably benign |
Het |
| Msl3l2 |
T |
C |
10: 55,991,631 (GRCm39) |
C119R |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,972,001 (GRCm39) |
E72G |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,818,930 (GRCm39) |
S475P |
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,881,077 (GRCm39) |
N18I |
possibly damaging |
Het |
| Nwd2 |
G |
T |
5: 63,902,540 (GRCm39) |
W86L |
probably damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,646 (GRCm39) |
L212* |
probably null |
Het |
| Or7a37 |
T |
C |
10: 78,805,933 (GRCm39) |
I150T |
probably benign |
Het |
| Pard3 |
T |
A |
8: 128,032,891 (GRCm39) |
S162T |
possibly damaging |
Het |
| Ppm1a |
C |
A |
12: 72,830,494 (GRCm39) |
D6E |
probably damaging |
Het |
| Rcor3 |
C |
T |
1: 191,800,646 (GRCm39) |
V312I |
possibly damaging |
Het |
| Rgs20 |
T |
A |
1: 5,091,262 (GRCm39) |
|
probably null |
Het |
| Slc11a2 |
C |
A |
15: 100,307,963 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Vmn1r124 |
C |
A |
7: 20,994,188 (GRCm39) |
V119F |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,787,523 (GRCm39) |
T230A |
possibly damaging |
Het |
| Zfp945 |
T |
C |
17: 23,071,360 (GRCm39) |
K180E |
probably damaging |
Het |
|
| Other mutations in Enc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGACAGCCAAGCGCATGAG -3'
(R):5'- TGGGAGACTCTGAGGTTCAGTGAC -3'
Sequencing Primer
(F):5'- CAAGCGCATGAGCTGCC -3'
(R):5'- aaccactgGTTCCTGTTAAAAGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation