Incidental Mutation 'R6575:Hemgn'
| ID |
523384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hemgn
|
| Ensembl Gene |
ENSMUSG00000028332 |
| Gene Name |
hemogen |
| Synonyms |
4921524M03Rik, EDAG |
| MMRRC Submission |
044699-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6575 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
46393989-46404183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46395990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 415
(M415I)
|
| 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: M415I
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: M415I
| 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: M415I
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: M415I
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,330,683 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Acnat1 |
A |
G |
4: 49,450,785 (GRCm39) |
Y109H |
possibly damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,401,522 (GRCm39) |
K835N |
possibly damaging |
Het |
| Afg1l |
T |
C |
10: 42,194,712 (GRCm39) |
D360G |
probably damaging |
Het |
| Ap3s1 |
C |
T |
18: 46,887,448 (GRCm39) |
T27M |
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,256,284 (GRCm39) |
L225P |
probably damaging |
Het |
| Bicra |
G |
A |
7: 15,713,056 (GRCm39) |
T997I |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,995,411 (GRCm39) |
R112G |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,561,535 (GRCm39) |
T989A |
possibly damaging |
Het |
| Cog1 |
C |
A |
11: 113,546,887 (GRCm39) |
Q494K |
probably benign |
Het |
| Cyb5rl |
T |
C |
4: 106,942,550 (GRCm39) |
Y160H |
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,057 (GRCm39) |
N198D |
probably damaging |
Het |
| Eif1ad11 |
T |
C |
12: 87,994,117 (GRCm39) |
I115T |
probably damaging |
Het |
| Eif3l |
C |
A |
15: 78,970,778 (GRCm39) |
Q351K |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,916,301 (GRCm39) |
|
probably benign |
Het |
| Fam3c |
G |
T |
6: 22,329,607 (GRCm39) |
A40D |
probably damaging |
Het |
| Fcrla |
A |
G |
1: 170,749,797 (GRCm39) |
S87P |
probably damaging |
Het |
| Glra1 |
A |
G |
11: 55,411,822 (GRCm39) |
Y246H |
probably damaging |
Het |
| Gm45871 |
T |
A |
18: 90,609,844 (GRCm39) |
C361S |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,547,347 (GRCm39) |
N1522D |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,731,435 (GRCm39) |
M214T |
unknown |
Het |
| Heatr5b |
A |
T |
17: 79,070,418 (GRCm39) |
V1665E |
probably damaging |
Het |
| Hibadh |
G |
A |
6: 52,524,013 (GRCm39) |
T295I |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,878,745 (GRCm39) |
L947P |
probably damaging |
Het |
| Icam2 |
G |
A |
11: 106,269,585 (GRCm39) |
T178I |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,663,763 (GRCm39) |
S86P |
probably damaging |
Het |
| Lipe |
G |
A |
7: 25,082,749 (GRCm39) |
T801I |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,518,934 (GRCm39) |
T44A |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 15,847,439 (GRCm39) |
H1193R |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myh10 |
A |
G |
11: 68,699,676 (GRCm39) |
I1671V |
probably benign |
Het |
| Or2c1 |
A |
G |
16: 3,656,894 (GRCm39) |
D19G |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,930,129 (GRCm39) |
D334G |
possibly damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,098,117 (GRCm39) |
D801G |
probably damaging |
Het |
| Pfdn4 |
C |
A |
2: 170,358,556 (GRCm39) |
D16E |
probably benign |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Rrp9 |
C |
T |
9: 106,360,778 (GRCm39) |
T253I |
probably damaging |
Het |
| Speer1m |
A |
T |
5: 11,970,612 (GRCm39) |
K62* |
probably null |
Het |
| Tnrc6a |
A |
G |
7: 122,769,133 (GRCm39) |
T308A |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,250 (GRCm39) |
C34S |
probably benign |
Het |
| Trhr |
A |
G |
15: 44,092,602 (GRCm39) |
M280V |
possibly damaging |
Het |
| Trp53bp1 |
G |
A |
2: 121,059,084 (GRCm39) |
H926Y |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,652,903 (GRCm39) |
I90K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
| Vav1 |
A |
C |
17: 57,612,280 (GRCm39) |
R513S |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,671 (GRCm39) |
T128S |
probably benign |
Het |
| Zfp687 |
T |
C |
3: 94,915,700 (GRCm39) |
Y1024C |
probably damaging |
Het |
| Zfp938 |
C |
A |
10: 82,061,160 (GRCm39) |
G487* |
probably null |
Het |
| Znrf2 |
A |
G |
6: 54,855,430 (GRCm39) |
Y73C |
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 |
|
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 |
|
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'- TTGAAATAACTGGCCACTGTCC -3'
(R):5'- CACCAAGAAGCAGTTGAACCTG -3'
Sequencing Primer
(F):5'- GCTCTAAATCACAAATCCTGAGGGAG -3'
(R):5'- GAACCTGAATTCATTTCTCACGAGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation