Incidental Mutation 'R5456:Hemgn'
ID |
432748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hemgn
|
Ensembl Gene |
ENSMUSG00000028332 |
Gene Name |
hemogen |
Synonyms |
4921524M03Rik, EDAG |
MMRRC Submission |
043019-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5456 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
46393989-46404183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 46396571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 222
(V222M)
|
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: V222M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000066383 Gene: ENSMUSG00000028332 AA Change: V222M
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: V222M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103393 Gene: ENSMUSG00000028332 AA Change: V222M
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot12 |
A |
G |
13: 91,889,759 (GRCm39) |
D37G |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 35,118,892 (GRCm39) |
F1081S |
probably damaging |
Het |
Apmap |
T |
A |
2: 150,431,989 (GRCm39) |
I128L |
probably benign |
Het |
Arhgap12 |
G |
A |
18: 6,112,170 (GRCm39) |
Q65* |
probably null |
Het |
Baat |
C |
T |
4: 49,502,949 (GRCm39) |
V58I |
possibly damaging |
Het |
Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
Bend3 |
T |
C |
10: 43,386,542 (GRCm39) |
Y312H |
probably damaging |
Het |
Btnl2 |
A |
T |
17: 34,582,295 (GRCm39) |
Y287F |
probably benign |
Het |
Cd22 |
T |
C |
7: 30,575,464 (GRCm39) |
I193V |
probably benign |
Het |
Commd3 |
A |
G |
2: 18,678,968 (GRCm39) |
E95G |
probably damaging |
Het |
Dcbld1 |
A |
G |
10: 52,190,486 (GRCm39) |
D215G |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,958,571 (GRCm39) |
Y525C |
probably damaging |
Het |
Fam83b |
T |
C |
9: 76,399,877 (GRCm39) |
T409A |
probably benign |
Het |
Fshr |
T |
A |
17: 89,293,776 (GRCm39) |
I301F |
probably benign |
Het |
Igsf3 |
C |
T |
3: 101,334,537 (GRCm39) |
H205Y |
probably benign |
Het |
Mfsd1 |
T |
C |
3: 67,497,166 (GRCm39) |
I147T |
probably benign |
Het |
Mslnl |
A |
G |
17: 25,962,133 (GRCm39) |
D177G |
probably damaging |
Het |
Nat2 |
G |
A |
8: 67,954,225 (GRCm39) |
V112I |
probably damaging |
Het |
Or4c10b |
G |
A |
2: 89,711,602 (GRCm39) |
G144E |
probably damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pabpc1l |
T |
C |
2: 163,869,580 (GRCm39) |
S127P |
probably damaging |
Het |
Poln |
A |
T |
5: 34,164,786 (GRCm39) |
L845Q |
possibly damaging |
Het |
Ppm1f |
T |
A |
16: 16,741,610 (GRCm39) |
D361E |
probably damaging |
Het |
Rapgef5 |
T |
A |
12: 117,692,381 (GRCm39) |
|
probably null |
Het |
Rarb |
G |
A |
14: 16,436,843 (GRCm38) |
T226I |
probably damaging |
Het |
Sel1l3 |
T |
C |
5: 53,357,378 (GRCm39) |
K205E |
probably benign |
Het |
Sh3glb1 |
T |
A |
3: 144,415,114 (GRCm39) |
I75L |
probably benign |
Het |
Srgap1 |
G |
A |
10: 121,705,716 (GRCm39) |
S236L |
probably benign |
Het |
Tmco3 |
A |
G |
8: 13,369,815 (GRCm39) |
Y609C |
probably damaging |
Het |
Trhde |
A |
G |
10: 114,322,665 (GRCm39) |
V712A |
possibly damaging |
Het |
Trim13 |
A |
G |
14: 61,842,523 (GRCm39) |
D180G |
possibly damaging |
Het |
Tst |
T |
C |
15: 78,284,158 (GRCm39) |
E223G |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,201,263 (GRCm39) |
I397M |
probably benign |
Het |
Usp31 |
T |
C |
7: 121,269,500 (GRCm39) |
D481G |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,834,729 (GRCm39) |
M1686K |
possibly damaging |
Het |
Wdr83 |
T |
C |
8: 85,806,837 (GRCm39) |
H81R |
probably benign |
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 |
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'- CAGCATCTCCAGGTGTTACAC -3'
(R):5'- TCTCCTACCACATGCCAAGG -3'
Sequencing Primer
(F):5'- TCTCCAGGTGTTACACAGGGAAAG -3'
(R):5'- TGCCAAGGAATAGCAGTACTTC -3'
|
Posted On |
2016-10-06 |