Incidental Mutation 'IGL03284:Hmg20a'
ID |
415663 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hmg20a
|
Ensembl Gene |
ENSMUSG00000032329 |
Gene Name |
high mobility group 20A |
Synonyms |
5730490E10Rik, Hmgxb1, 1200004E06Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03284
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
56325893-56404220 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56388901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 156
(D156G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149359
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034879]
[ENSMUST00000214771]
[ENSMUST00000215269]
[ENSMUST00000217518]
|
AlphaFold |
Q9DC33 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034879
AA Change: D156G
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034879 Gene: ENSMUSG00000032329 AA Change: D156G
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
HMG
|
101 |
171 |
1.86e-21 |
SMART |
coiled coil region
|
228 |
272 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214771
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215269
AA Change: D156G
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217518
AA Change: D156G
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
T |
8: 25,276,354 (GRCm39) |
|
probably benign |
Het |
Atxn7l3b |
T |
C |
10: 112,764,431 (GRCm39) |
D66G |
probably benign |
Het |
Dmac2 |
T |
C |
7: 25,321,851 (GRCm39) |
|
probably null |
Het |
Ephb2 |
A |
G |
4: 136,388,827 (GRCm39) |
M590T |
probably damaging |
Het |
Fbxo41 |
C |
T |
6: 85,456,747 (GRCm39) |
R474H |
probably damaging |
Het |
Fcgbp |
G |
T |
7: 27,784,857 (GRCm39) |
A306S |
possibly damaging |
Het |
Hapstr1 |
A |
G |
16: 8,673,786 (GRCm39) |
I238V |
possibly damaging |
Het |
Mast4 |
A |
G |
13: 102,887,905 (GRCm39) |
V1168A |
probably damaging |
Het |
Oog2 |
A |
G |
4: 143,923,177 (GRCm39) |
|
probably benign |
Het |
Pate12 |
T |
A |
9: 36,344,759 (GRCm39) |
C96S |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,410,914 (GRCm39) |
|
probably benign |
Het |
Psmd6 |
A |
T |
14: 14,112,546 (GRCm38) |
N351K |
probably benign |
Het |
Ralgps1 |
T |
C |
2: 33,036,577 (GRCm39) |
|
probably benign |
Het |
Rbl1 |
C |
T |
2: 157,035,989 (GRCm39) |
|
probably benign |
Het |
Smarcc1 |
G |
A |
9: 110,004,142 (GRCm39) |
V399I |
probably benign |
Het |
Srek1 |
C |
A |
13: 103,897,045 (GRCm39) |
V99F |
probably damaging |
Het |
Styxl1 |
A |
G |
5: 135,785,949 (GRCm39) |
V32A |
possibly damaging |
Het |
Tnn |
C |
T |
1: 159,953,022 (GRCm39) |
V673I |
probably benign |
Het |
Vmn2r107 |
T |
A |
17: 20,577,173 (GRCm39) |
D390E |
probably benign |
Het |
|
Other mutations in Hmg20a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01305:Hmg20a
|
APN |
9 |
56,394,934 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01981:Hmg20a
|
APN |
9 |
56,384,514 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02085:Hmg20a
|
APN |
9 |
56,384,586 (GRCm39) |
nonsense |
probably null |
|
ANU22:Hmg20a
|
UTSW |
9 |
56,394,934 (GRCm39) |
missense |
probably damaging |
1.00 |
P0033:Hmg20a
|
UTSW |
9 |
56,397,108 (GRCm39) |
missense |
probably benign |
0.01 |
R0369:Hmg20a
|
UTSW |
9 |
56,394,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R0710:Hmg20a
|
UTSW |
9 |
56,381,954 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1405:Hmg20a
|
UTSW |
9 |
56,384,587 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1405:Hmg20a
|
UTSW |
9 |
56,384,587 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1546:Hmg20a
|
UTSW |
9 |
56,374,685 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2188:Hmg20a
|
UTSW |
9 |
56,384,584 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4730:Hmg20a
|
UTSW |
9 |
56,374,703 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4956:Hmg20a
|
UTSW |
9 |
56,388,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R6115:Hmg20a
|
UTSW |
9 |
56,397,116 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6130:Hmg20a
|
UTSW |
9 |
56,395,891 (GRCm39) |
splice site |
probably null |
|
R6152:Hmg20a
|
UTSW |
9 |
56,388,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R6961:Hmg20a
|
UTSW |
9 |
56,396,012 (GRCm39) |
missense |
probably benign |
0.29 |
R7499:Hmg20a
|
UTSW |
9 |
56,396,227 (GRCm39) |
missense |
unknown |
|
R9567:Hmg20a
|
UTSW |
9 |
56,384,472 (GRCm39) |
missense |
probably benign |
0.06 |
R9689:Hmg20a
|
UTSW |
9 |
56,381,823 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Posted On |
2016-08-02 |