Incidental Mutation 'R1405:Hmg20a'
| ID |
160528 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R1405 (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 T
at 56384587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 119
(Q119L)
|
| 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: Q119L
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329
AA Change: Q119L
| 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 |
probably benign
Transcript: ENSMUST00000214771
AA Change: Q119L
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214869
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215269
AA Change: Q119L
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217518
AA Change: Q119L
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 96.7%
- 10x: 83.5%
- 20x: 53.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
G |
A |
7: 101,047,643 (GRCm39) |
|
probably null |
Het |
| Asb8 |
G |
A |
15: 98,039,248 (GRCm39) |
H51Y |
possibly damaging |
Het |
| Capn10 |
T |
G |
1: 92,872,744 (GRCm39) |
V490G |
probably benign |
Het |
| Ccdc146 |
G |
A |
5: 21,604,730 (GRCm39) |
S36L |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,789,635 (GRCm39) |
|
probably null |
Het |
| Clvs2 |
C |
A |
10: 33,389,256 (GRCm39) |
*328L |
probably null |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dstn |
A |
G |
2: 143,780,356 (GRCm39) |
K19E |
probably damaging |
Het |
| Ehmt2 |
T |
A |
17: 35,125,553 (GRCm39) |
H134Q |
probably benign |
Het |
| Faah |
G |
A |
4: 115,858,345 (GRCm39) |
P411S |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,681,237 (GRCm39) |
F364L |
probably damaging |
Het |
| Gmnc |
A |
T |
16: 26,779,196 (GRCm39) |
N270K |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,765,133 (GRCm39) |
|
probably null |
Het |
| Ipo7 |
T |
C |
7: 109,629,048 (GRCm39) |
I106T |
probably benign |
Het |
| Ipo7 |
C |
T |
7: 109,638,456 (GRCm39) |
P241L |
probably damaging |
Het |
| Katnb1 |
T |
C |
8: 95,824,801 (GRCm39) |
Y574H |
probably damaging |
Het |
| Larp6 |
A |
C |
9: 60,644,849 (GRCm39) |
M330L |
probably benign |
Het |
| Lrrc8e |
T |
C |
8: 4,281,754 (GRCm39) |
Y30H |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,119,868 (GRCm39) |
V420A |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,407,855 (GRCm39) |
D126G |
probably benign |
Het |
| Prdm1 |
T |
A |
10: 44,315,961 (GRCm39) |
N725I |
probably damaging |
Het |
| Prl3a1 |
A |
G |
13: 27,459,051 (GRCm39) |
|
probably null |
Het |
| Psmd2 |
T |
C |
16: 20,471,034 (GRCm39) |
L59P |
possibly damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,395 (GRCm39) |
V304A |
probably benign |
Het |
| Rasa3 |
A |
G |
8: 13,638,027 (GRCm39) |
V339A |
possibly damaging |
Het |
| Sec24c |
G |
A |
14: 20,742,593 (GRCm39) |
|
probably null |
Het |
| Serpinb9e |
A |
G |
13: 33,444,009 (GRCm39) |
D343G |
probably benign |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
C |
14: 30,870,958 (GRCm39) |
V1297G |
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Tmprss2 |
G |
A |
16: 97,398,005 (GRCm39) |
T57I |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,423,066 (GRCm39) |
D1021E |
probably benign |
Het |
| Wdr46 |
C |
A |
17: 34,168,057 (GRCm39) |
P543Q |
probably damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,109,620 (GRCm39) |
Y103* |
probably null |
Het |
| Zfp287 |
T |
A |
11: 62,619,137 (GRCm39) |
D119V |
probably damaging |
Het |
| Zxdc |
A |
G |
6: 90,361,225 (GRCm39) |
S737G |
possibly 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 |
|
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 |
|
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'- GCACCTCGTGTCCTATTTGACGTTC -3'
(R):5'- TGTGCTACCACCCAAACCCCTT -3'
Sequencing Primer
(F):5'- TGTTACTATTGCTGATGACTTACTTG -3'
(R):5'- gctttttctgcctcaaccc -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation