Incidental Mutation 'R0909:H2-DMb2'
| ID |
83444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-DMb2
|
| Ensembl Gene |
ENSMUSG00000037548 |
| Gene Name |
histocompatibility 2, class II, locus Mb2 |
| Synonyms |
H2-M beta2, H-2Mb2, H2-Mb2 |
| MMRRC Submission |
039067-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R0909 (G1)
|
| Quality Score |
213 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34362281-34370529 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34367783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 68
(T68N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041982]
[ENSMUST00000114232]
[ENSMUST00000171231]
|
| AlphaFold |
Q31099 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041982
AA Change: T199N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043526
Gene: ENSMUSG00000037548
AA Change: T199N
| 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 benign
Transcript: ENSMUST00000171231
AA Change: T68N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000126533
Gene: ENSMUSG00000037548
AA Change: T68N
| Domain | Start | End | E-Value | Type |
|---|
|
IGc1
|
2 |
71 |
6.48e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173262
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
A |
19: 3,765,788 (GRCm39) |
M21K |
probably benign |
Het |
| Ap3s2 |
T |
C |
7: 79,530,266 (GRCm39) |
N183S |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,543,755 (GRCm39) |
I100V |
probably benign |
Het |
| Cep170b |
A |
G |
12: 112,698,473 (GRCm39) |
K77R |
probably null |
Het |
| Chmp5 |
C |
A |
4: 40,960,968 (GRCm39) |
N202K |
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 19,122,444 (GRCm39) |
L15I |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,125,480 (GRCm39) |
V542A |
possibly damaging |
Het |
| Exosc9 |
A |
T |
3: 36,608,853 (GRCm39) |
I151F |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,413 (GRCm39) |
N308S |
probably benign |
Het |
| Fbxw21 |
C |
A |
9: 108,985,476 (GRCm39) |
A101S |
possibly damaging |
Het |
| Frem3 |
A |
C |
8: 81,390,035 (GRCm39) |
N1762T |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,183,637 (GRCm39) |
E126G |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,791,741 (GRCm39) |
|
probably null |
Het |
| Mrpl44 |
G |
A |
1: 79,757,370 (GRCm39) |
V272I |
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,569,141 (GRCm39) |
L723F |
probably benign |
Het |
| Nemf |
T |
A |
12: 69,388,384 (GRCm39) |
D329V |
probably damaging |
Het |
| Noxa1 |
A |
T |
2: 24,981,806 (GRCm39) |
L99Q |
probably damaging |
Het |
| Nr6a1 |
A |
T |
2: 38,775,218 (GRCm39) |
D44E |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,965,890 (GRCm39) |
D3131G |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,401 (GRCm39) |
I13T |
probably benign |
Het |
| Or10c1 |
T |
G |
17: 37,521,809 (GRCm39) |
I312L |
probably benign |
Het |
| Or52p2 |
A |
T |
7: 102,237,654 (GRCm39) |
C99S |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,402,279 (GRCm39) |
|
probably null |
Het |
| Rbsn |
G |
A |
6: 92,166,791 (GRCm39) |
Q618* |
probably null |
Het |
| Rccd1 |
A |
C |
7: 79,968,799 (GRCm39) |
|
probably null |
Het |
| Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
| Socs5 |
T |
A |
17: 87,441,201 (GRCm39) |
L47Q |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,652,880 (GRCm39) |
T593A |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,851,271 (GRCm39) |
I748V |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,288,105 (GRCm39) |
D435G |
probably benign |
Het |
| Vmn2r69 |
C |
T |
7: 85,055,873 (GRCm39) |
G755D |
probably benign |
Het |
| Vsnl1 |
A |
G |
12: 11,376,372 (GRCm39) |
F171S |
probably damaging |
Het |
| Wbp2nl |
G |
A |
15: 82,198,275 (GRCm39) |
A271T |
probably benign |
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 |
|
IGL01077:H2-DMb2
|
APN |
17 |
34,367,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:H2-DMb2
|
APN |
17 |
34,366,832 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAACACAAGGGAGCCCGTGATGC -3'
(R):5'- CCTTTAGTCGGGAACCAACACTGC -3'
Sequencing Primer
(F):5'- GTGATGCTGGCCTGCTAC -3'
(R):5'- TGCTAACCCTTAACAGGCTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation