Incidental Mutation 'R2188:Hmg20a'
ID |
237927 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hmg20a
|
Ensembl Gene |
ENSMUSG00000032329 |
Gene Name |
high mobility group 20A |
Synonyms |
5730490E10Rik, Hmgxb1, 1200004E06Rik |
MMRRC Submission |
040190-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2188 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
56325893-56404220 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56384584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 118
(E118G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149359
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034879]
[ENSMUST00000213242]
[ENSMUST00000214771]
[ENSMUST00000214869]
[ENSMUST00000215269]
[ENSMUST00000217518]
|
AlphaFold |
Q9DC33 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034879
AA Change: E118G
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034879 Gene: ENSMUSG00000032329 AA Change: E118G
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: E118G
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214869
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215269
AA Change: E118G
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217518
AA Change: E118G
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,838,367 (GRCm39) |
L547P |
probably damaging |
Het |
Arhgap29 |
A |
C |
3: 121,784,658 (GRCm39) |
D195A |
probably damaging |
Het |
Atad3a |
A |
T |
4: 155,835,976 (GRCm39) |
I274N |
probably damaging |
Het |
Ccdc12 |
G |
T |
9: 110,485,699 (GRCm39) |
K23N |
possibly damaging |
Het |
Ccpg1 |
A |
G |
9: 72,920,388 (GRCm39) |
T668A |
probably benign |
Het |
Cdc34b |
T |
C |
11: 94,632,998 (GRCm39) |
I66T |
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,001,121 (GRCm39) |
I2408T |
probably damaging |
Het |
Fam91a1 |
A |
C |
15: 58,302,512 (GRCm39) |
N284T |
probably damaging |
Het |
Gbp2b |
A |
T |
3: 142,314,040 (GRCm39) |
E440V |
probably benign |
Het |
Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,309,947 (GRCm39) |
A3238T |
probably benign |
Het |
Itprid2 |
T |
C |
2: 79,475,267 (GRCm39) |
S409P |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,383,601 (GRCm39) |
F781I |
possibly damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,737,181 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,298,971 (GRCm39) |
T857A |
probably benign |
Het |
Mucl2 |
T |
A |
15: 103,927,840 (GRCm39) |
N39I |
probably damaging |
Het |
Myl6 |
A |
G |
10: 128,328,566 (GRCm39) |
I27T |
possibly damaging |
Het |
Ndor1 |
A |
T |
2: 25,141,765 (GRCm39) |
|
probably null |
Het |
Nlrp9a |
A |
G |
7: 26,264,354 (GRCm39) |
E758G |
probably damaging |
Het |
Or52h7 |
G |
A |
7: 104,213,883 (GRCm39) |
A152T |
probably benign |
Het |
Or8u8 |
A |
T |
2: 86,011,780 (GRCm39) |
I225N |
probably damaging |
Het |
Parp3 |
G |
A |
9: 106,353,051 (GRCm39) |
R42W |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,798,600 (GRCm39) |
I495V |
probably damaging |
Het |
Qrfprl |
C |
A |
6: 65,418,260 (GRCm39) |
H143N |
probably damaging |
Het |
Sdsl |
C |
T |
5: 120,596,485 (GRCm39) |
G310S |
probably damaging |
Het |
Sec24a |
A |
G |
11: 51,614,411 (GRCm39) |
L531P |
probably damaging |
Het |
Slc2a12 |
C |
T |
10: 22,540,736 (GRCm39) |
S197F |
probably benign |
Het |
Snapc1 |
T |
A |
12: 74,017,001 (GRCm39) |
I213N |
probably damaging |
Het |
Srpk1 |
A |
T |
17: 28,813,163 (GRCm39) |
I527N |
probably damaging |
Het |
Steap2 |
G |
T |
5: 5,723,643 (GRCm39) |
Y412* |
probably null |
Het |
Tbk1 |
A |
C |
10: 121,399,836 (GRCm39) |
Y329* |
probably null |
Het |
Tekt5 |
T |
C |
16: 10,176,189 (GRCm39) |
E452G |
probably damaging |
Het |
Tmc5 |
G |
T |
7: 118,254,178 (GRCm39) |
C672F |
probably damaging |
Het |
Trim27 |
T |
C |
13: 21,367,987 (GRCm39) |
L201S |
probably damaging |
Het |
Vil1 |
A |
C |
1: 74,466,724 (GRCm39) |
D638A |
probably benign |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Zfp583 |
C |
T |
7: 6,320,610 (GRCm39) |
R134H |
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 |
|
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 |
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 |
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'- ACCTCGTGTCCTATTTGACG -3'
(R):5'- GATCTGCTATGTGCTACCACC -3'
Sequencing Primer
(F):5'- TGTTACTATTGCTGATGACTTACTTG -3'
(R):5'- CTCAAATCCTCTGGAGTAGCAGTG -3'
|
Posted On |
2014-10-02 |