Incidental Mutation 'R2959:H2-M2'
| ID |
255864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-M2
|
| Ensembl Gene |
ENSMUSG00000016283 |
| Gene Name |
histocompatibility 2, M region locus 2 |
| Synonyms |
Thy19.4, H-2M2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R2959 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37791742-37794443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37794345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 26
(T26A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016427]
[ENSMUST00000171139]
|
| AlphaFold |
Q6W9L1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016427
AA Change: T26A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000016427
Gene: ENSMUSG00000016283
AA Change: T26A
| 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 benign
Transcript: ENSMUST00000171139
AA Change: T26A
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000131297
Gene: ENSMUSG00000016283
AA Change: T26A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
| Dnajc16 |
T |
A |
4: 141,493,856 (GRCm39) |
K571* |
probably null |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm5407 |
A |
T |
16: 49,117,326 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Prpf39 |
T |
C |
12: 65,089,297 (GRCm39) |
S12P |
probably damaging |
Het |
| Prss1 |
G |
T |
6: 41,440,172 (GRCm39) |
D170Y |
probably damaging |
Het |
| Satb1 |
T |
C |
17: 52,082,331 (GRCm39) |
D441G |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,068 (GRCm39) |
L261* |
probably null |
Het |
| Zfp719 |
T |
A |
7: 43,239,851 (GRCm39) |
S480T |
possibly damaging |
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 |
|
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 |
|
R6410:H2-M2
|
UTSW |
17 |
37,794,104 (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'- AAGGCTGATGTTTGGCTTGAAC -3'
(R):5'- CATGGACACTGATGACTATGCTC -3'
Sequencing Primer
(F):5'- GATGTTTGGCTTGAACCTTCTTC -3'
(R):5'- GGACACTGATGACTATGCTCCAATTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation