Incidental Mutation 'R6410:H2-M2'
| ID |
514587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-M2
|
| Ensembl Gene |
ENSMUSG00000016283 |
| Gene Name |
histocompatibility 2, M region locus 2 |
| Synonyms |
Thy19.4, H-2M2 |
| MMRRC Submission |
044383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6410 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37791742-37794443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37794104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 40
(V40A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016427]
[ENSMUST00000171139]
|
| AlphaFold |
Q6W9L1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016427
AA Change: V40A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000016427
Gene: ENSMUSG00000016283
AA Change: V40A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
207 |
1.6e-77 |
PFAM |
|
IGc1
|
226 |
297 |
2.11e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171139
AA Change: V40A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131297
Gene: ENSMUSG00000016283
AA Change: V40A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
207 |
7.1e-76 |
PFAM |
|
IGc1
|
226 |
297 |
2.11e-20 |
SMART |
|
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
C |
T |
4: 132,790,210 (GRCm39) |
R484W |
probably damaging |
Het |
| Arhgap24 |
T |
A |
5: 103,040,017 (GRCm39) |
I411N |
probably benign |
Het |
| Armt1 |
A |
G |
10: 4,403,826 (GRCm39) |
S304G |
probably benign |
Het |
| Atg9b |
T |
A |
5: 24,591,108 (GRCm39) |
N774I |
possibly damaging |
Het |
| C1s1 |
C |
T |
6: 124,508,117 (GRCm39) |
C624Y |
probably damaging |
Het |
| Camsap2 |
C |
A |
1: 136,273,182 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,564,798 (GRCm39) |
S248P |
probably benign |
Het |
| Cd28 |
A |
T |
1: 60,804,442 (GRCm39) |
H140L |
probably benign |
Het |
| Csmd3 |
G |
A |
15: 48,536,803 (GRCm39) |
T133I |
probably damaging |
Het |
| D430041D05Rik |
A |
T |
2: 103,998,548 (GRCm39) |
|
probably null |
Het |
| Defb47 |
T |
C |
14: 63,238,442 (GRCm39) |
V56A |
probably benign |
Het |
| Fxyd5 |
T |
C |
7: 30,734,831 (GRCm39) |
E132G |
probably damaging |
Het |
| H2-Q7 |
T |
C |
17: 35,659,152 (GRCm39) |
L201P |
probably benign |
Het |
| Klra9 |
T |
G |
6: 130,155,957 (GRCm39) |
D266A |
probably damaging |
Het |
| Meioc |
A |
G |
11: 102,565,860 (GRCm39) |
N492S |
probably benign |
Het |
| Nmt2 |
A |
G |
2: 3,317,215 (GRCm39) |
E341G |
probably damaging |
Het |
| Nutm1 |
A |
C |
2: 112,079,074 (GRCm39) |
V947G |
possibly damaging |
Het |
| Oga |
T |
C |
19: 45,764,484 (GRCm39) |
|
probably null |
Het |
| Or7e177 |
T |
A |
9: 20,211,748 (GRCm39) |
I84N |
probably damaging |
Het |
| Pm20d1 |
G |
A |
1: 131,726,334 (GRCm39) |
G57D |
probably benign |
Het |
| Pnpla5 |
A |
G |
15: 84,004,880 (GRCm39) |
I157T |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sv2b |
A |
T |
7: 74,789,857 (GRCm39) |
I392N |
probably benign |
Het |
| Wfdc8 |
T |
A |
2: 164,439,663 (GRCm39) |
I240F |
probably benign |
Het |
|
| Other mutations in H2-M2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01683:H2-M2
|
APN |
17 |
37,792,406 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Lock
|
UTSW |
17 |
37,792,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Nokia
|
UTSW |
17 |
37,792,197 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0799:H2-M2
|
UTSW |
17 |
37,793,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0981:H2-M2
|
UTSW |
17 |
37,793,521 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1925:H2-M2
|
UTSW |
17 |
37,793,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2959:H2-M2
|
UTSW |
17 |
37,794,345 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3968:H2-M2
|
UTSW |
17 |
37,792,197 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4063:H2-M2
|
UTSW |
17 |
37,792,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:H2-M2
|
UTSW |
17 |
37,794,135 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5806:H2-M2
|
UTSW |
17 |
37,792,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:H2-M2
|
UTSW |
17 |
37,792,361 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7456:H2-M2
|
UTSW |
17 |
37,792,552 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7535:H2-M2
|
UTSW |
17 |
37,793,528 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7680:H2-M2
|
UTSW |
17 |
37,793,916 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8112:H2-M2
|
UTSW |
17 |
37,794,383 (GRCm39) |
missense |
unknown |
|
|
R8910:H2-M2
|
UTSW |
17 |
37,792,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:H2-M2
|
UTSW |
17 |
37,792,176 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9193:H2-M2
|
UTSW |
17 |
37,793,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9420:H2-M2
|
UTSW |
17 |
37,792,215 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9487:H2-M2
|
UTSW |
17 |
37,793,424 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCAGTTTCTGAAAGTACACTC -3'
(R):5'- AGAAGAGCACCTGGGAATCC -3'
Sequencing Primer
(F):5'- CTGAAAGTACACTCTAATCTGCTG -3'
(R):5'- GGGAATCCCACCCAGCCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation