Incidental Mutation 'IGL01077:H2-DMb2'
ID |
53021 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
H2-DMb2
|
Ensembl Gene |
ENSMUSG00000037548 |
Gene Name |
histocompatibility 2, class II, locus Mb2 |
Synonyms |
H2-M beta2, H-2Mb2, H2-Mb2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
IGL01077
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
34362281-34370529 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 34367587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 3
(A3S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041982]
[ENSMUST00000114232]
[ENSMUST00000171231]
|
AlphaFold |
Q31099 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041982
AA Change: A134S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043526 Gene: ENSMUSG00000037548 AA Change: A134S
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
MHC_II_beta
|
27 |
105 |
7.87e-27 |
SMART |
IGc1
|
130 |
202 |
9.6e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114232
|
SMART Domains |
Protein: ENSMUSP00000109870 Gene: ENSMUSG00000079547
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
MHC_II_beta
|
27 |
105 |
3.45e-23 |
SMART |
IGc1
|
130 |
202 |
9.6e-24 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171231
AA Change: A3S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126533 Gene: ENSMUSG00000037548 AA Change: A3S
Domain | Start | End | E-Value | Type |
IGc1
|
2 |
71 |
6.48e-21 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173262
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
A |
T |
1: 58,096,569 (GRCm39) |
|
probably benign |
Het |
Arhgap4 |
A |
G |
X: 72,943,699 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
G |
10: 50,525,413 (GRCm39) |
|
probably benign |
Het |
Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
Car10 |
T |
C |
11: 93,487,969 (GRCm39) |
I222T |
possibly damaging |
Het |
Cep250 |
G |
A |
2: 155,804,054 (GRCm39) |
V55M |
probably damaging |
Het |
Chst4 |
T |
A |
8: 110,756,597 (GRCm39) |
Y422F |
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,108,220 (GRCm39) |
E185G |
probably benign |
Het |
Dtx2 |
T |
A |
5: 136,058,057 (GRCm39) |
M454K |
possibly damaging |
Het |
Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
Ganc |
C |
T |
2: 120,276,996 (GRCm39) |
T686M |
possibly damaging |
Het |
Gm53 |
C |
T |
11: 96,142,594 (GRCm39) |
|
noncoding transcript |
Het |
Gria3 |
T |
C |
X: 40,677,369 (GRCm39) |
V254A |
possibly damaging |
Het |
Mtrex |
A |
T |
13: 113,051,023 (GRCm39) |
I184K |
probably damaging |
Het |
Myzap |
T |
C |
9: 71,454,042 (GRCm39) |
E343G |
probably damaging |
Het |
Nap1l2 |
T |
C |
X: 102,228,922 (GRCm39) |
D332G |
probably benign |
Het |
Npr1 |
T |
G |
3: 90,365,669 (GRCm39) |
D628A |
probably damaging |
Het |
Raet1e |
T |
C |
10: 22,057,219 (GRCm39) |
L181S |
probably damaging |
Het |
Rnf43 |
G |
T |
11: 87,622,718 (GRCm39) |
M606I |
probably benign |
Het |
Serpinb6b |
G |
A |
13: 33,162,049 (GRCm39) |
D283N |
possibly damaging |
Het |
Slit2 |
A |
G |
5: 48,374,785 (GRCm39) |
|
probably null |
Het |
Supt5 |
C |
T |
7: 28,023,213 (GRCm39) |
W323* |
probably null |
Het |
Svep1 |
T |
A |
4: 58,068,760 (GRCm39) |
I3009F |
possibly damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tll1 |
T |
C |
8: 64,523,266 (GRCm39) |
Y482C |
probably benign |
Het |
Trappc8 |
G |
A |
18: 20,970,035 (GRCm39) |
T985I |
probably benign |
Het |
Zfp945 |
T |
C |
17: 23,071,359 (GRCm39) |
K180R |
probably damaging |
Het |
|
Other mutations in H2-DMb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01077:H2-DMb2
|
APN |
17 |
34,366,694 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02691:H2-DMb2
|
APN |
17 |
34,366,832 (GRCm39) |
missense |
probably benign |
|
R0909:H2-DMb2
|
UTSW |
17 |
34,367,783 (GRCm39) |
missense |
probably benign |
0.00 |
R1299:H2-DMb2
|
UTSW |
17 |
34,369,561 (GRCm39) |
missense |
probably benign |
0.08 |
R1882:H2-DMb2
|
UTSW |
17 |
34,366,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R4770:H2-DMb2
|
UTSW |
17 |
34,367,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R4914:H2-DMb2
|
UTSW |
17 |
34,369,503 (GRCm39) |
missense |
probably benign |
0.05 |
R5265:H2-DMb2
|
UTSW |
17 |
34,367,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R5561:H2-DMb2
|
UTSW |
17 |
34,364,445 (GRCm39) |
critical splice donor site |
probably null |
|
R5906:H2-DMb2
|
UTSW |
17 |
34,367,582 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R7970:H2-DMb2
|
UTSW |
17 |
34,369,572 (GRCm39) |
missense |
probably benign |
0.02 |
R8842:H2-DMb2
|
UTSW |
17 |
34,366,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R8973:H2-DMb2
|
UTSW |
17 |
34,367,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |