Incidental Mutation 'R6514:H2-M11'
| ID |
520549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-M11
|
| Ensembl Gene |
ENSMUSG00000037537 |
| Gene Name |
histocompatibility 2, M region locus 11 |
| Synonyms |
|
| MMRRC Submission |
044641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6514 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36857967-36860142 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36859839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 277
(E277D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041964]
|
| AlphaFold |
F6U8V3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041964
AA Change: E277D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042522
Gene: ENSMUSG00000037537
AA Change: E277D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
203 |
2.8e-44 |
PFAM |
|
IGc1
|
222 |
293 |
1.91e-18 |
SMART |
|
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173968
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
95% (35/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
G |
A |
11: 50,833,569 (GRCm39) |
A11V |
unknown |
Het |
| Add1 |
T |
A |
5: 34,763,317 (GRCm39) |
H168Q |
probably damaging |
Het |
| Apol7b |
C |
T |
15: 77,308,126 (GRCm39) |
R123Q |
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 81,037,309 (GRCm39) |
E155G |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,066,511 (GRCm39) |
D108E |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,810,118 (GRCm39) |
T476A |
probably benign |
Het |
| Cntnap5c |
A |
G |
17: 58,637,165 (GRCm39) |
E1014G |
probably damaging |
Het |
| Crybg1 |
A |
T |
10: 43,873,211 (GRCm39) |
L1299H |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,135,194 (GRCm39) |
S184P |
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,525,440 (GRCm39) |
H65R |
possibly damaging |
Het |
| Egr3 |
T |
C |
14: 70,316,366 (GRCm39) |
L59P |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,190,996 (GRCm39) |
D724E |
probably null |
Het |
| Erbb2 |
A |
G |
11: 98,310,972 (GRCm39) |
D44G |
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,442,697 (GRCm39) |
I739V |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,380,879 (GRCm39) |
F665L |
probably benign |
Het |
| Gm10801 |
T |
A |
2: 98,494,214 (GRCm39) |
W119R |
probably benign |
Het |
| Ighv1-66 |
T |
C |
12: 115,556,740 (GRCm39) |
Y114C |
possibly damaging |
Het |
| Irf1 |
C |
G |
11: 53,662,148 (GRCm39) |
L12V |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Ly6g |
C |
T |
15: 75,028,581 (GRCm39) |
P14S |
probably benign |
Het |
| Mfsd13a |
T |
C |
19: 46,363,064 (GRCm39) |
|
probably null |
Het |
| Mme |
T |
A |
3: 63,272,265 (GRCm39) |
C621* |
probably null |
Het |
| Mmp16 |
T |
C |
4: 18,116,123 (GRCm39) |
C576R |
probably damaging |
Het |
| Ngp |
A |
T |
9: 110,249,017 (GRCm39) |
I30F |
probably damaging |
Het |
| Or2q1 |
T |
A |
6: 42,794,930 (GRCm39) |
I175N |
probably damaging |
Het |
| Pdcd6ip |
G |
A |
9: 113,518,762 (GRCm39) |
T166I |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
A |
2: 135,796,916 (GRCm39) |
H440Q |
probably benign |
Het |
| Ppl |
A |
G |
16: 4,905,181 (GRCm39) |
S1705P |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,746,266 (GRCm39) |
F3831S |
probably damaging |
Het |
| Serpine2 |
A |
C |
1: 79,799,287 (GRCm39) |
|
probably null |
Het |
| Skor2 |
T |
A |
18: 76,950,389 (GRCm39) |
W906R |
probably damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,262,238 (GRCm39) |
D336V |
probably damaging |
Het |
| Vav1 |
T |
C |
17: 57,634,660 (GRCm39) |
F832L |
probably damaging |
Het |
|
| Other mutations in H2-M11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:H2-M11
|
APN |
17 |
36,858,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01657:H2-M11
|
APN |
17 |
36,858,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02249:H2-M11
|
APN |
17 |
36,858,829 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03263:H2-M11
|
APN |
17 |
36,859,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:H2-M11
|
UTSW |
17 |
36,859,846 (GRCm39) |
nonsense |
probably null |
|
|
R0639:H2-M11
|
UTSW |
17 |
36,858,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0866:H2-M11
|
UTSW |
17 |
36,859,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0924:H2-M11
|
UTSW |
17 |
36,860,106 (GRCm39) |
missense |
probably benign |
|
|
R0925:H2-M11
|
UTSW |
17 |
36,858,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1707:H2-M11
|
UTSW |
17 |
36,859,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2212:H2-M11
|
UTSW |
17 |
36,859,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:H2-M11
|
UTSW |
17 |
36,859,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2567:H2-M11
|
UTSW |
17 |
36,859,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3029:H2-M11
|
UTSW |
17 |
36,859,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3030:H2-M11
|
UTSW |
17 |
36,859,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3893:H2-M11
|
UTSW |
17 |
36,857,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3946:H2-M11
|
UTSW |
17 |
36,860,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:H2-M11
|
UTSW |
17 |
36,858,883 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4679:H2-M11
|
UTSW |
17 |
36,859,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4868:H2-M11
|
UTSW |
17 |
36,859,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:H2-M11
|
UTSW |
17 |
36,858,401 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5496:H2-M11
|
UTSW |
17 |
36,858,871 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7779:H2-M11
|
UTSW |
17 |
36,859,698 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8072:H2-M11
|
UTSW |
17 |
36,859,026 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8210:H2-M11
|
UTSW |
17 |
36,858,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8249:H2-M11
|
UTSW |
17 |
36,859,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:H2-M11
|
UTSW |
17 |
36,859,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8466:H2-M11
|
UTSW |
17 |
36,858,985 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8906:H2-M11
|
UTSW |
17 |
36,859,851 (GRCm39) |
nonsense |
probably null |
|
|
R9688:H2-M11
|
UTSW |
17 |
36,859,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:H2-M11
|
UTSW |
17 |
36,859,662 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATCACTCTGAGGTGCTGG -3'
(R):5'- AGCTCCCATAAGCAGAGCTC -3'
Sequencing Primer
(F):5'- GCTGGGCCTTGAAATTTTACC -3'
(R):5'- TATGCATAAAGGAAATGGTGGGCTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation