Incidental Mutation 'R0850:H2-DMb1'
| ID |
82536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-DMb1
|
| Ensembl Gene |
ENSMUSG00000079547 |
| Gene Name |
histocompatibility 2, class II, locus Mb1 |
| Synonyms |
H2-M beta1, H2-Mb1, H-2Mb1 |
| MMRRC Submission |
039029-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R0850 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34372165-34379203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34374536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 62
(V62A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041982]
[ENSMUST00000114232]
[ENSMUST00000171231]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041982
|
| SMART Domains |
Protein: ENSMUSP00000043526
Gene: ENSMUSG00000037548
| 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
AA Change: V62A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109870
Gene: ENSMUSG00000079547
AA Change: V62A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000126533
Gene: ENSMUSG00000037548
| Domain | Start | End | E-Value | Type |
|---|
|
IGc1
|
2 |
71 |
6.48e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174765
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Aadacl2fm2 |
T |
G |
3: 59,659,669 (GRCm39) |
I374R |
possibly damaging |
Het |
| Agbl3 |
T |
A |
6: 34,776,139 (GRCm39) |
F210Y |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,802,444 (GRCm39) |
V418A |
possibly damaging |
Het |
| Dmp1 |
A |
T |
5: 104,360,653 (GRCm39) |
D443V |
possibly damaging |
Het |
| Elapor2 |
T |
A |
5: 9,467,993 (GRCm39) |
N220K |
probably damaging |
Het |
| Elavl3 |
T |
G |
9: 21,948,059 (GRCm39) |
D35A |
probably damaging |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,478,685 (GRCm39) |
K425R |
probably benign |
Het |
| Gypa |
A |
G |
8: 81,222,974 (GRCm39) |
H26R |
unknown |
Het |
| Helb |
T |
C |
10: 119,941,272 (GRCm39) |
H472R |
probably damaging |
Het |
| Herc1 |
T |
G |
9: 66,373,952 (GRCm39) |
V3197G |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,854,231 (GRCm39) |
N3712K |
probably benign |
Het |
| Herc6 |
T |
C |
6: 57,560,227 (GRCm39) |
V89A |
possibly damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,599 (GRCm39) |
T213A |
probably benign |
Het |
| Kcna7 |
T |
C |
7: 45,058,855 (GRCm39) |
S381P |
probably damaging |
Het |
| Kif19a |
C |
A |
11: 114,671,613 (GRCm39) |
P164Q |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,368,195 (GRCm39) |
S2189P |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,688,328 (GRCm39) |
N329S |
probably damaging |
Het |
| Mrps15 |
A |
G |
4: 125,942,479 (GRCm39) |
Y76C |
probably damaging |
Het |
| Or51a42 |
T |
A |
7: 103,708,252 (GRCm39) |
M186L |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,593 (GRCm39) |
V280A |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,858,773 (GRCm39) |
R1506G |
possibly damaging |
Het |
| Ptprb |
A |
T |
10: 116,138,030 (GRCm39) |
Q311H |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,175,415 (GRCm39) |
Y1137H |
probably damaging |
Het |
| Scaf8 |
A |
G |
17: 3,246,049 (GRCm39) |
|
probably null |
Het |
| Slc25a1 |
A |
T |
16: 17,745,145 (GRCm39) |
F105Y |
probably benign |
Het |
| Slc29a4 |
T |
C |
5: 142,704,327 (GRCm39) |
V327A |
probably benign |
Het |
| Spmip3 |
A |
G |
1: 177,568,571 (GRCm39) |
T23A |
probably benign |
Het |
| Tmed10 |
A |
G |
12: 85,390,279 (GRCm39) |
F195L |
probably benign |
Het |
| Tmem45a2 |
T |
A |
16: 56,865,732 (GRCm39) |
I151F |
probably benign |
Het |
| Vmn2r93 |
C |
A |
17: 18,525,279 (GRCm39) |
F312L |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,026,663 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in H2-DMb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03356:H2-DMb1
|
APN |
17 |
34,376,514 (GRCm39) |
splice site |
probably benign |
|
|
R0374:H2-DMb1
|
UTSW |
17 |
34,378,399 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0436:H2-DMb1
|
UTSW |
17 |
34,378,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:H2-DMb1
|
UTSW |
17 |
34,374,685 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2355:H2-DMb1
|
UTSW |
17 |
34,376,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:H2-DMb1
|
UTSW |
17 |
34,374,547 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5786:H2-DMb1
|
UTSW |
17 |
34,372,408 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6125:H2-DMb1
|
UTSW |
17 |
34,376,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:H2-DMb1
|
UTSW |
17 |
34,376,506 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6385:H2-DMb1
|
UTSW |
17 |
34,374,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6993:H2-DMb1
|
UTSW |
17 |
34,376,324 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7207:H2-DMb1
|
UTSW |
17 |
34,376,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7324:H2-DMb1
|
UTSW |
17 |
34,378,436 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8084:H2-DMb1
|
UTSW |
17 |
34,376,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:H2-DMb1
|
UTSW |
17 |
34,374,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF015:H2-DMb1
|
UTSW |
17 |
34,374,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF016:H2-DMb1
|
UTSW |
17 |
34,376,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCCTGCCATGCAGACTCTGACC -3'
(R):5'- TGCCCAGGTATTAACCCCTTTGTTG -3'
Sequencing Primer
(F):5'- GCAGACTCTGACCTGCCTTC -3'
(R):5'- GGTATTAACCCCTTTGTTGCTCAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation