Incidental Mutation 'R2169:Hemgn'
ID |
235655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hemgn
|
Ensembl Gene |
ENSMUSG00000028332 |
Gene Name |
hemogen |
Synonyms |
4921524M03Rik, EDAG |
MMRRC Submission |
040172-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2169 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
46393989-46404183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46396417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 273
(H273L)
|
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: H273L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000066383 Gene: ENSMUSG00000028332 AA Change: H273L
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: H273L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103393 Gene: ENSMUSG00000028332 AA Change: H273L
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,622,349 (GRCm39) |
T606A |
probably benign |
Het |
Adtrp |
T |
A |
13: 41,920,905 (GRCm39) |
S221C |
possibly damaging |
Het |
Ap1g2 |
T |
A |
14: 55,336,797 (GRCm39) |
|
probably null |
Het |
Arhgef5 |
A |
T |
6: 43,251,354 (GRCm39) |
M702L |
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,245,879 (GRCm39) |
V34A |
probably damaging |
Het |
Ccdc154 |
T |
A |
17: 25,389,897 (GRCm39) |
V509E |
probably damaging |
Het |
Cttnbp2 |
C |
T |
6: 18,426,096 (GRCm39) |
D761N |
probably benign |
Het |
Ddx18 |
A |
T |
1: 121,486,138 (GRCm39) |
|
probably null |
Het |
Dipk1a |
A |
T |
5: 108,057,325 (GRCm39) |
L411* |
probably null |
Het |
Fam241b |
A |
T |
10: 61,945,745 (GRCm39) |
I4N |
probably damaging |
Het |
Gm5800 |
T |
C |
14: 51,951,135 (GRCm39) |
K155E |
possibly damaging |
Het |
Hsp90aa1 |
A |
G |
12: 110,659,168 (GRCm39) |
V543A |
probably damaging |
Het |
Hspa1l |
A |
G |
17: 35,196,299 (GRCm39) |
K113E |
probably benign |
Het |
Hspb2 |
A |
G |
9: 50,663,015 (GRCm39) |
I38T |
probably damaging |
Het |
Htt |
A |
T |
5: 35,034,819 (GRCm39) |
E2021D |
probably benign |
Het |
Lrpprc |
C |
T |
17: 85,077,505 (GRCm39) |
R394Q |
probably benign |
Het |
Lrrc8b |
T |
C |
5: 105,629,753 (GRCm39) |
Y700H |
probably damaging |
Het |
Mefv |
A |
G |
16: 3,528,752 (GRCm39) |
V593A |
probably benign |
Het |
Mrgprh |
C |
T |
17: 13,095,856 (GRCm39) |
T32M |
probably benign |
Het |
Mrpl18 |
A |
G |
17: 13,132,655 (GRCm39) |
|
probably null |
Het |
Muc1 |
A |
G |
3: 89,138,903 (GRCm39) |
E504G |
probably damaging |
Het |
Ndufa13 |
G |
A |
8: 70,347,169 (GRCm39) |
A77V |
probably damaging |
Het |
Or8g33 |
A |
G |
9: 39,337,654 (GRCm39) |
F238L |
possibly damaging |
Het |
Pgbd5 |
T |
A |
8: 125,111,363 (GRCm39) |
|
probably null |
Het |
Pgm5 |
T |
A |
19: 24,812,179 (GRCm39) |
I118F |
probably damaging |
Het |
Phyhip |
T |
C |
14: 70,704,572 (GRCm39) |
F264L |
possibly damaging |
Het |
Polr3e |
C |
T |
7: 120,531,360 (GRCm39) |
R176W |
probably damaging |
Het |
Prkacb |
C |
T |
3: 146,452,438 (GRCm39) |
|
probably null |
Het |
Rab19 |
T |
G |
6: 39,360,975 (GRCm39) |
V41G |
possibly damaging |
Het |
Rapgef5 |
A |
G |
12: 117,679,130 (GRCm39) |
Y234C |
probably benign |
Het |
Slc26a5 |
T |
C |
5: 22,018,863 (GRCm39) |
T659A |
probably damaging |
Het |
Slc6a2 |
G |
A |
8: 93,720,729 (GRCm39) |
V449I |
probably benign |
Het |
Stab2 |
A |
G |
10: 86,723,726 (GRCm39) |
S1490P |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,548,005 (GRCm39) |
T713A |
probably damaging |
Het |
Tmc6 |
A |
T |
11: 117,659,932 (GRCm39) |
L732Q |
probably damaging |
Het |
Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
Vmn1r203 |
A |
T |
13: 22,708,905 (GRCm39) |
K229* |
probably null |
Het |
Xylt1 |
G |
A |
7: 117,266,660 (GRCm39) |
G893R |
probably damaging |
Het |
Ythdf1 |
A |
T |
2: 180,553,907 (GRCm39) |
S69T |
probably damaging |
Het |
Zfp114 |
C |
T |
7: 23,880,509 (GRCm39) |
T285I |
probably benign |
Het |
Zfp458 |
T |
C |
13: 67,405,113 (GRCm39) |
E439G |
probably damaging |
Het |
Zfp65 |
G |
A |
13: 67,858,499 (GRCm39) |
T55I |
probably damaging |
Het |
Zmym1 |
C |
T |
4: 126,947,996 (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 |
|
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGAAACAGTGCATTCTCTGG -3'
(R):5'- TGTGCCAGGAAACAACTGTG -3'
Sequencing Primer
(F):5'- GAAACAGTGCATTCTCTGGCTTCAG -3'
(R):5'- GTGTCCCCAAACCATTCTTCCAAAG -3'
|
Posted On |
2014-10-01 |