Incidental Mutation 'IGL02746:Hemgn'
ID |
306035 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hemgn
|
Ensembl Gene |
ENSMUSG00000028332 |
Gene Name |
hemogen |
Synonyms |
4921524M03Rik, EDAG |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02746
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
46393989-46404183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46400740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 40
(L40P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071096]
[ENSMUST00000107764]
|
AlphaFold |
Q9ERZ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071096
AA Change: L40P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000066383 Gene: ENSMUSG00000028332 AA Change: L40P
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
81 |
N/A |
INTRINSIC |
internal_repeat_1
|
160 |
256 |
4.18e-7 |
PROSPERO |
low complexity region
|
314 |
326 |
N/A |
INTRINSIC |
internal_repeat_1
|
346 |
436 |
4.18e-7 |
PROSPERO |
low complexity region
|
444 |
455 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107764
AA Change: L40P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103393 Gene: ENSMUSG00000028332 AA Change: L40P
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
81 |
N/A |
INTRINSIC |
internal_repeat_1
|
160 |
256 |
4.18e-7 |
PROSPERO |
low complexity region
|
314 |
326 |
N/A |
INTRINSIC |
internal_repeat_1
|
346 |
436 |
4.18e-7 |
PROSPERO |
low complexity region
|
444 |
455 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
G |
A |
6: 121,646,462 (GRCm39) |
|
probably benign |
Het |
Adck5 |
A |
T |
15: 76,473,354 (GRCm39) |
M68L |
probably benign |
Het |
Aox3 |
T |
C |
1: 58,222,701 (GRCm39) |
S1165P |
possibly damaging |
Het |
Arhgap23 |
A |
G |
11: 97,345,030 (GRCm39) |
|
probably benign |
Het |
Brdt |
T |
C |
5: 107,518,190 (GRCm39) |
L771P |
probably benign |
Het |
Ccdc134 |
T |
A |
15: 82,015,938 (GRCm39) |
|
probably benign |
Het |
Cdc42bpa |
T |
A |
1: 179,939,312 (GRCm39) |
D41E |
possibly damaging |
Het |
Cdkn2aipnl |
A |
G |
11: 51,861,047 (GRCm39) |
T106A |
probably damaging |
Het |
Cox10 |
G |
A |
11: 63,855,357 (GRCm39) |
|
probably benign |
Het |
Cubn |
C |
A |
2: 13,449,851 (GRCm39) |
C891F |
probably damaging |
Het |
Cyb5rl |
A |
G |
4: 106,925,836 (GRCm39) |
E6G |
probably benign |
Het |
Dhrs2 |
T |
C |
14: 55,478,628 (GRCm39) |
S258P |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,807,150 (GRCm39) |
L145P |
possibly damaging |
Het |
Epc1 |
A |
G |
18: 6,454,317 (GRCm39) |
I129T |
probably benign |
Het |
Gkn3 |
A |
G |
6: 87,364,339 (GRCm39) |
|
probably benign |
Het |
Gls2 |
A |
G |
10: 128,036,825 (GRCm39) |
D202G |
probably damaging |
Het |
Gm45844 |
A |
G |
7: 7,243,178 (GRCm39) |
F24S |
probably damaging |
Het |
Golph3 |
C |
T |
15: 12,349,501 (GRCm39) |
R174W |
probably damaging |
Het |
Gpatch4 |
A |
C |
3: 87,961,698 (GRCm39) |
E119A |
possibly damaging |
Het |
Ifi27l2b |
A |
T |
12: 103,417,493 (GRCm39) |
D231E |
unknown |
Het |
Klf12 |
T |
C |
14: 100,137,656 (GRCm39) |
I297V |
probably benign |
Het |
Lzts3 |
T |
C |
2: 130,478,261 (GRCm39) |
N165S |
probably damaging |
Het |
Nlrp4e |
G |
A |
7: 23,021,264 (GRCm39) |
V584I |
probably benign |
Het |
Npas4 |
T |
C |
19: 5,036,695 (GRCm39) |
T490A |
probably damaging |
Het |
Pikfyve |
C |
A |
1: 65,273,431 (GRCm39) |
H615Q |
probably damaging |
Het |
Plce1 |
T |
A |
19: 38,686,916 (GRCm39) |
L608Q |
probably damaging |
Het |
Pou2f3 |
T |
G |
9: 43,058,143 (GRCm39) |
Q67H |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,700,585 (GRCm39) |
L1694P |
probably damaging |
Het |
Rpl4 |
A |
G |
9: 64,082,932 (GRCm39) |
T117A |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,379,703 (GRCm39) |
N194D |
probably damaging |
Het |
Sec16b |
T |
A |
1: 157,373,859 (GRCm39) |
|
probably benign |
Het |
Slc12a5 |
A |
T |
2: 164,816,836 (GRCm39) |
M97L |
probably benign |
Het |
Stard13 |
A |
G |
5: 150,970,322 (GRCm39) |
|
probably benign |
Het |
Stau1 |
A |
C |
2: 166,796,818 (GRCm39) |
|
probably null |
Het |
Thg1l |
A |
T |
11: 45,839,054 (GRCm39) |
C219* |
probably null |
Het |
Togaram1 |
G |
T |
12: 65,013,270 (GRCm39) |
E174* |
probably null |
Het |
Vmn1r237 |
T |
C |
17: 21,534,480 (GRCm39) |
S68P |
possibly damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,167,239 (GRCm39) |
S631T |
possibly damaging |
Het |
|
Other mutations in Hemgn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00843:Hemgn
|
APN |
4 |
46,396,240 (GRCm39) |
missense |
probably benign |
|
IGL00846:Hemgn
|
APN |
4 |
46,396,171 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL00930:Hemgn
|
APN |
4 |
46,396,383 (GRCm39) |
nonsense |
probably null |
|
IGL01875:Hemgn
|
APN |
4 |
46,396,994 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01937:Hemgn
|
APN |
4 |
46,396,057 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02217:Hemgn
|
APN |
4 |
46,396,420 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02325:Hemgn
|
APN |
4 |
46,396,085 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03093:Hemgn
|
APN |
4 |
46,396,504 (GRCm39) |
missense |
probably benign |
0.26 |
IGL03240:Hemgn
|
APN |
4 |
46,400,732 (GRCm39) |
nonsense |
probably null |
|
PIT4504001:Hemgn
|
UTSW |
4 |
46,395,863 (GRCm39) |
missense |
probably benign |
|
R0925:Hemgn
|
UTSW |
4 |
46,397,049 (GRCm39) |
missense |
probably damaging |
0.98 |
R1413:Hemgn
|
UTSW |
4 |
46,396,091 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1795:Hemgn
|
UTSW |
4 |
46,395,958 (GRCm39) |
missense |
probably damaging |
0.97 |
R1844:Hemgn
|
UTSW |
4 |
46,396,655 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2152:Hemgn
|
UTSW |
4 |
46,396,607 (GRCm39) |
nonsense |
probably null |
|
R2169:Hemgn
|
UTSW |
4 |
46,396,417 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2207:Hemgn
|
UTSW |
4 |
46,396,301 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3742:Hemgn
|
UTSW |
4 |
46,396,421 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4515:Hemgn
|
UTSW |
4 |
46,396,477 (GRCm39) |
missense |
probably damaging |
0.98 |
R5310:Hemgn
|
UTSW |
4 |
46,403,927 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5445:Hemgn
|
UTSW |
4 |
46,400,738 (GRCm39) |
missense |
probably benign |
0.09 |
R5456:Hemgn
|
UTSW |
4 |
46,396,571 (GRCm39) |
missense |
probably damaging |
0.99 |
R6520:Hemgn
|
UTSW |
4 |
46,396,466 (GRCm39) |
missense |
probably damaging |
0.98 |
R6575:Hemgn
|
UTSW |
4 |
46,395,990 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6983:Hemgn
|
UTSW |
4 |
46,395,997 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7204:Hemgn
|
UTSW |
4 |
46,397,054 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7443:Hemgn
|
UTSW |
4 |
46,396,145 (GRCm39) |
missense |
probably damaging |
0.96 |
R7567:Hemgn
|
UTSW |
4 |
46,397,034 (GRCm39) |
missense |
probably damaging |
0.96 |
R7623:Hemgn
|
UTSW |
4 |
46,396,504 (GRCm39) |
missense |
probably benign |
0.07 |
R8181:Hemgn
|
UTSW |
4 |
46,396,504 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8353:Hemgn
|
UTSW |
4 |
46,403,935 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8714:Hemgn
|
UTSW |
4 |
46,395,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R8725:Hemgn
|
UTSW |
4 |
46,394,638 (GRCm39) |
missense |
probably benign |
0.03 |
R8814:Hemgn
|
UTSW |
4 |
46,400,717 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8865:Hemgn
|
UTSW |
4 |
46,396,682 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9164:Hemgn
|
UTSW |
4 |
46,396,106 (GRCm39) |
missense |
probably benign |
0.03 |
R9335:Hemgn
|
UTSW |
4 |
46,394,647 (GRCm39) |
missense |
probably benign |
0.09 |
Z1177:Hemgn
|
UTSW |
4 |
46,400,693 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2015-04-16 |