Incidental Mutation 'IGL02325:Hemgn'
| ID |
288433 |
| 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 # |
IGL02325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
46393989-46404183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 46396085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 384
(I384L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071096]
[ENSMUST00000107764]
|
| AlphaFold |
Q9ERZ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071096
AA Change: I384L
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: I384L
| 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 benign
Transcript: ENSMUST00000107764
AA Change: I384L
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: I384L
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
A |
T |
5: 115,250,013 (GRCm39) |
I233N |
probably damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,648,303 (GRCm39) |
G393S |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,603,580 (GRCm39) |
D822G |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,552 (GRCm39) |
N817S |
probably benign |
Het |
| Aoah |
G |
A |
13: 21,101,295 (GRCm39) |
E272K |
probably damaging |
Het |
| Aoc1 |
A |
G |
6: 48,882,829 (GRCm39) |
D235G |
possibly damaging |
Het |
| Ccdc186 |
G |
T |
19: 56,801,788 (GRCm39) |
Q110K |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,320,187 (GRCm39) |
T875K |
probably damaging |
Het |
| Chdh |
T |
C |
14: 29,754,782 (GRCm39) |
V264A |
probably benign |
Het |
| Col15a1 |
A |
G |
4: 47,289,364 (GRCm39) |
T854A |
probably damaging |
Het |
| Cuedc1 |
A |
T |
11: 88,060,999 (GRCm39) |
E114V |
probably null |
Het |
| Ddx23 |
A |
T |
15: 98,545,074 (GRCm39) |
D677E |
possibly damaging |
Het |
| Ddx24 |
A |
G |
12: 103,382,525 (GRCm39) |
V640A |
probably damaging |
Het |
| Ddx25 |
T |
C |
9: 35,465,804 (GRCm39) |
|
probably benign |
Het |
| Ddx43 |
T |
C |
9: 78,309,772 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
T |
C |
18: 37,986,653 (GRCm39) |
K1111E |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,725,043 (GRCm39) |
D4370G |
probably damaging |
Het |
| Eef1e1 |
A |
T |
13: 38,840,012 (GRCm39) |
|
probably benign |
Het |
| Egfem1 |
T |
C |
3: 29,206,066 (GRCm39) |
I101T |
probably benign |
Het |
| Gpr142 |
G |
T |
11: 114,696,947 (GRCm39) |
L164F |
probably damaging |
Het |
| Gtf2h5 |
T |
A |
17: 6,131,106 (GRCm39) |
|
probably null |
Het |
| Hap1 |
T |
A |
11: 100,245,190 (GRCm39) |
|
probably null |
Het |
| Ints3 |
A |
T |
3: 90,311,349 (GRCm39) |
H419Q |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,383,026 (GRCm39) |
L132P |
probably damaging |
Het |
| Krtap29-1 |
C |
T |
11: 99,869,159 (GRCm39) |
V241M |
probably damaging |
Het |
| Lrguk |
A |
G |
6: 34,106,114 (GRCm39) |
E713G |
probably benign |
Het |
| Lrrk2 |
G |
T |
15: 91,610,511 (GRCm39) |
|
probably null |
Het |
| Nlrp14 |
A |
G |
7: 106,781,523 (GRCm39) |
D240G |
possibly damaging |
Het |
| Omt2b |
A |
T |
9: 78,235,854 (GRCm39) |
T60S |
possibly damaging |
Het |
| Or10ag52 |
G |
T |
2: 87,043,850 (GRCm39) |
G205W |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,733 (GRCm39) |
N569D |
possibly damaging |
Het |
| Plcd3 |
G |
A |
11: 102,971,447 (GRCm39) |
R66* |
probably null |
Het |
| Polr1a |
G |
A |
6: 71,897,641 (GRCm39) |
R212Q |
probably benign |
Het |
| Pou3f2 |
A |
T |
4: 22,487,020 (GRCm39) |
L371Q |
probably damaging |
Het |
| Rnf207 |
A |
T |
4: 152,396,237 (GRCm39) |
I509N |
probably damaging |
Het |
| Sema5a |
T |
G |
15: 32,686,977 (GRCm39) |
S1030A |
possibly damaging |
Het |
| Shank1 |
C |
A |
7: 43,976,504 (GRCm39) |
S534* |
probably null |
Het |
| Sntg2 |
T |
C |
12: 30,245,542 (GRCm39) |
T495A |
probably benign |
Het |
| Spem2 |
A |
T |
11: 69,707,789 (GRCm39) |
V392D |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,029,453 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
A |
T |
1: 39,433,321 (GRCm39) |
F287Y |
probably damaging |
Het |
| Tgfbi |
A |
G |
13: 56,779,043 (GRCm39) |
D422G |
probably benign |
Het |
| Tppp |
G |
A |
13: 74,169,295 (GRCm39) |
A12T |
probably benign |
Het |
| Usp46 |
C |
T |
5: 74,197,689 (GRCm39) |
|
probably null |
Het |
| Zdhhc12 |
C |
T |
2: 29,981,448 (GRCm39) |
V205I |
probably 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 |
|
IGL02746:Hemgn
|
APN |
4 |
46,400,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
Incidental Mutation