Incidental Mutation 'IGL00846:Hemgn'
| ID |
11240 |
| 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 # |
IGL00846
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
46393989-46404183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 46396171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 355
(T355K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071096]
[ENSMUST00000107764]
|
| AlphaFold |
Q9ERZ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071096
AA Change: T355K
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: T355K
| 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 |
possibly damaging
Transcript: ENSMUST00000107764
AA Change: T355K
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: T355K
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
T |
C |
7: 126,098,350 (GRCm39) |
T181A |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,718,323 (GRCm39) |
|
probably null |
Het |
| Cass4 |
A |
C |
2: 172,271,643 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
A |
T |
2: 178,123,417 (GRCm39) |
Y672F |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,376,195 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 47,169,972 (GRCm39) |
L1146P |
probably benign |
Het |
| Cntnap5b |
T |
G |
1: 100,091,948 (GRCm39) |
C230G |
probably damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,452,354 (GRCm39) |
|
probably null |
Het |
| Cux1 |
A |
G |
5: 136,355,650 (GRCm39) |
I324T |
probably damaging |
Het |
| Dnajb4 |
T |
C |
3: 151,899,118 (GRCm39) |
N36S |
probably damaging |
Het |
| Fancc |
T |
A |
13: 63,488,270 (GRCm39) |
T237S |
possibly damaging |
Het |
| Fip1l1 |
A |
G |
5: 74,747,726 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
T |
A |
13: 42,321,092 (GRCm39) |
L42* |
probably null |
Het |
| Hps3 |
A |
G |
3: 20,079,956 (GRCm39) |
W234R |
probably benign |
Het |
| Kit |
A |
T |
5: 75,801,471 (GRCm39) |
N586I |
probably damaging |
Het |
| Mettl14 |
T |
A |
3: 123,165,012 (GRCm39) |
K109N |
probably damaging |
Het |
| Mmab |
A |
T |
5: 114,571,378 (GRCm39) |
M166K |
probably benign |
Het |
| Naprt |
T |
A |
15: 75,763,637 (GRCm39) |
Y395F |
probably benign |
Het |
| Nostrin |
C |
T |
2: 69,015,899 (GRCm39) |
|
probably benign |
Het |
| Pgap1 |
G |
T |
1: 54,531,180 (GRCm39) |
|
probably benign |
Het |
| Plpp5 |
A |
T |
8: 26,210,585 (GRCm39) |
I59F |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,089,109 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,218,944 (GRCm39) |
V958D |
probably benign |
Het |
| Serpinb3b |
T |
A |
1: 107,083,579 (GRCm39) |
N200I |
probably damaging |
Het |
| Slc22a15 |
T |
A |
3: 101,768,136 (GRCm39) |
Q512L |
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,150,277 (GRCm39) |
Y477N |
possibly damaging |
Het |
| Trim10 |
T |
A |
17: 37,182,584 (GRCm39) |
L150H |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,572,797 (GRCm39) |
E723G |
possibly damaging |
Het |
| Usp25 |
A |
G |
16: 76,859,293 (GRCm39) |
S264G |
probably damaging |
Het |
| Vopp1 |
A |
G |
6: 57,731,465 (GRCm39) |
|
probably benign |
Het |
| Wapl |
G |
T |
14: 34,414,701 (GRCm39) |
|
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,097,022 (GRCm39) |
F93S |
probably damaging |
Het |
| Wt1 |
G |
T |
2: 104,997,302 (GRCm39) |
R413L |
probably damaging |
Het |
| Zfp345 |
C |
T |
2: 150,314,538 (GRCm39) |
G333D |
possibly damaging |
Het |
| Zmynd11 |
C |
A |
13: 9,770,808 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation