Incidental Mutation 'R0710:Hmg20a'
| ID |
62702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmg20a
|
| Ensembl Gene |
ENSMUSG00000032329 |
| Gene Name |
high mobility group 20A |
| Synonyms |
5730490E10Rik, Hmgxb1, 1200004E06Rik |
| MMRRC Submission |
038893-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0710 (G1)
|
| Quality Score |
102 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
56325893-56404220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56381954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 77
(D77N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034879]
[ENSMUST00000213242]
[ENSMUST00000214771]
[ENSMUST00000214869]
[ENSMUST00000215269]
[ENSMUST00000217518]
|
| AlphaFold |
Q9DC33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034879
AA Change: D77N
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329
AA Change: D77N
| 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: ENSMUST00000213242
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214771
AA Change: D77N
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214869
AA Change: D77N
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215269
AA Change: D77N
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217518
AA Change: D77N
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Celsr2 |
A |
G |
3: 108,320,028 (GRCm39) |
V928A |
probably benign |
Het |
| Farp1 |
C |
T |
14: 121,474,555 (GRCm39) |
T256M |
probably damaging |
Het |
| Fbxl3 |
G |
T |
14: 103,326,751 (GRCm39) |
H162Q |
probably damaging |
Het |
| Glra3 |
C |
T |
8: 56,578,399 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
A |
G |
11: 102,372,759 (GRCm39) |
S260P |
unknown |
Het |
| Hectd4 |
G |
A |
5: 121,474,691 (GRCm39) |
V2771I |
probably benign |
Het |
| Hgf |
C |
A |
5: 16,771,761 (GRCm39) |
C129* |
probably null |
Het |
| Iqch |
A |
T |
9: 63,432,418 (GRCm39) |
S287T |
probably benign |
Het |
| Kcnj11 |
T |
C |
7: 45,748,549 (GRCm39) |
Y258C |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,617,323 (GRCm39) |
T874A |
probably benign |
Het |
| Mlc1 |
G |
T |
15: 88,862,067 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,548,848 (GRCm39) |
S544P |
possibly damaging |
Het |
| Mypop |
A |
T |
7: 18,734,485 (GRCm39) |
|
probably null |
Het |
| Poli |
A |
T |
18: 70,655,961 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
C |
A |
8: 13,633,830 (GRCm39) |
V478L |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,299,390 (GRCm39) |
M1372K |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,834,498 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
C |
3: 72,859,864 (GRCm39) |
Q297R |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,586,074 (GRCm39) |
D172G |
possibly damaging |
Het |
| Tulp2 |
T |
A |
7: 45,170,232 (GRCm39) |
V301D |
possibly damaging |
Het |
| Ubr2 |
G |
A |
17: 47,249,607 (GRCm39) |
R1582W |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,783,181 (GRCm39) |
S706P |
probably damaging |
Het |
| Vmn1r171 |
C |
A |
7: 23,332,426 (GRCm39) |
S205Y |
probably damaging |
Het |
| Wnk4 |
G |
A |
11: 101,164,932 (GRCm39) |
A754T |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,857,318 (GRCm39) |
R184W |
probably damaging |
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 |
|
|
IGL03284:Hmg20a
|
APN |
9 |
56,388,901 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCCTGTTGCTCAGGTTAACAC -3'
(R):5'- CGAGCCCTGCTGAACATTATAGGAG -3'
Sequencing Primer
(F):5'- GTTAACACACCCCGAGGGTC -3'
(R):5'- TAGCTACATTTAGTCAGACCAAGGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation