Incidental Mutation 'R5692:Egln3'
ID |
443743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Egln3
|
Ensembl Gene |
ENSMUSG00000035105 |
Gene Name |
egl-9 family hypoxia-inducible factor 3 |
Synonyms |
SM-20, 2610021G09Rik, Phd3, Hif-p4h-3 |
MMRRC Submission |
043179-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5692 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
54225767-54250646 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 54227447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039516]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000039516
|
SMART Domains |
Protein: ENSMUSP00000041874 Gene: ENSMUSG00000035105
Domain | Start | End | E-Value | Type |
P4Hc
|
26 |
213 |
9.48e-47 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice display decreased apoptosis in SCG neurons, reduced adrenal medullary secretory capacity, abnormal adrenal medulla morphology, reduced circulating adrenaline and noradrenaline levels, and reduced systolic blood pressure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700128F08Rik |
G |
A |
9: 8,221,991 (GRCm39) |
|
noncoding transcript |
Het |
Adcy10 |
A |
G |
1: 165,342,875 (GRCm39) |
N247S |
probably benign |
Het |
Ago3 |
T |
C |
4: 126,248,862 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
A |
G |
7: 44,797,223 (GRCm39) |
V168A |
probably damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgap26 |
T |
A |
18: 39,254,945 (GRCm39) |
V274E |
probably damaging |
Het |
Clec4d |
T |
C |
6: 123,245,104 (GRCm39) |
|
probably null |
Het |
Dennd4b |
T |
C |
3: 90,185,090 (GRCm39) |
Y1166H |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fhad1 |
T |
A |
4: 141,690,768 (GRCm39) |
M434L |
probably benign |
Het |
Gfm1 |
T |
G |
3: 67,342,955 (GRCm39) |
M163R |
probably damaging |
Het |
Isg15 |
A |
T |
4: 156,284,279 (GRCm39) |
L83Q |
probably damaging |
Het |
Ly9 |
GCCTTTGGGGGACAATTCC |
GCC |
1: 171,432,755 (GRCm39) |
|
probably null |
Het |
Med1 |
G |
T |
11: 98,047,206 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
T |
A |
11: 105,227,468 (GRCm39) |
V567D |
probably damaging |
Het |
Nnmt |
G |
T |
9: 48,514,780 (GRCm39) |
T79K |
probably benign |
Het |
Opn1sw |
G |
A |
6: 29,379,840 (GRCm39) |
|
probably benign |
Het |
Optc |
G |
T |
1: 133,828,714 (GRCm39) |
|
probably benign |
Het |
Pcdh17 |
C |
T |
14: 84,685,980 (GRCm39) |
P816S |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,607,502 (GRCm39) |
S245P |
probably benign |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Sacs |
T |
C |
14: 61,445,288 (GRCm39) |
F2445L |
probably benign |
Het |
Sel1l |
T |
C |
12: 91,778,652 (GRCm39) |
N721S |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc7a11 |
C |
G |
3: 50,326,780 (GRCm39) |
V494L |
probably benign |
Het |
Sulf2 |
C |
A |
2: 165,923,426 (GRCm39) |
A598S |
probably benign |
Het |
Tph2 |
A |
T |
10: 115,020,732 (GRCm39) |
D21E |
probably damaging |
Het |
Trf |
T |
C |
9: 103,103,324 (GRCm39) |
Y110C |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,628,202 (GRCm39) |
E14653K |
possibly damaging |
Het |
Vmn2r18 |
A |
G |
5: 151,485,724 (GRCm39) |
I590T |
possibly damaging |
Het |
Zfp607b |
G |
T |
7: 27,402,889 (GRCm39) |
K448N |
probably benign |
Het |
Zfp689 |
T |
C |
7: 127,048,071 (GRCm39) |
|
probably benign |
Het |
Zfp709 |
C |
T |
8: 72,643,999 (GRCm39) |
P476L |
probably damaging |
Het |
|
Other mutations in Egln3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02675:Egln3
|
APN |
12 |
54,249,996 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03104:Egln3
|
APN |
12 |
54,249,981 (GRCm39) |
splice site |
probably benign |
|
R0036:Egln3
|
UTSW |
12 |
54,232,378 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0091:Egln3
|
UTSW |
12 |
54,228,432 (GRCm39) |
missense |
probably benign |
0.07 |
R0325:Egln3
|
UTSW |
12 |
54,250,298 (GRCm39) |
missense |
probably benign |
0.09 |
R0358:Egln3
|
UTSW |
12 |
54,250,082 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0494:Egln3
|
UTSW |
12 |
54,250,107 (GRCm39) |
missense |
probably benign |
0.01 |
R1241:Egln3
|
UTSW |
12 |
54,228,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R4786:Egln3
|
UTSW |
12 |
54,232,367 (GRCm39) |
missense |
probably damaging |
0.99 |
R5078:Egln3
|
UTSW |
12 |
54,228,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R5496:Egln3
|
UTSW |
12 |
54,250,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R6038:Egln3
|
UTSW |
12 |
54,228,476 (GRCm39) |
missense |
probably damaging |
0.98 |
R6038:Egln3
|
UTSW |
12 |
54,228,476 (GRCm39) |
missense |
probably damaging |
0.98 |
R6732:Egln3
|
UTSW |
12 |
54,227,427 (GRCm39) |
missense |
probably benign |
|
R6944:Egln3
|
UTSW |
12 |
54,230,738 (GRCm39) |
missense |
probably benign |
0.00 |
R7508:Egln3
|
UTSW |
12 |
54,227,414 (GRCm39) |
missense |
probably benign |
0.28 |
R8204:Egln3
|
UTSW |
12 |
54,250,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCCGGCAAGAAAACATG -3'
(R):5'- TGTTCTAAGCTAAGCATGGTGG -3'
Sequencing Primer
(F):5'- GTCCCGGCAAGAAAACATGAAGTAC -3'
(R):5'- GACCATGAATTTGAGGTCAGCTTGAC -3'
|
Posted On |
2016-11-09 |