Incidental Mutation 'R0866:H2-M11'
| ID |
82367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-M11
|
| Ensembl Gene |
ENSMUSG00000037537 |
| Gene Name |
histocompatibility 2, M region locus 11 |
| Synonyms |
|
| MMRRC Submission |
039040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R0866 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36857967-36860142 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36859829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 274
(L274P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041964]
|
| AlphaFold |
F6U8V3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041964
AA Change: L274P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000042522
Gene: ENSMUSG00000037537
AA Change: L274P
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
G |
T |
6: 131,529,742 (GRCm39) |
R112L |
unknown |
Het |
| Abcd4 |
G |
T |
12: 84,658,507 (GRCm39) |
A232E |
probably damaging |
Het |
| Acsm5 |
T |
A |
7: 119,140,123 (GRCm39) |
I508N |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,132,156 (GRCm39) |
Q263R |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,879,451 (GRCm39) |
L1890P |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,363,384 (GRCm39) |
D560N |
probably damaging |
Het |
| Crb3 |
T |
A |
17: 57,369,743 (GRCm39) |
L17Q |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,115,098 (GRCm39) |
R78L |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,599,229 (GRCm39) |
C669S |
probably damaging |
Het |
| Gria2 |
A |
T |
3: 80,629,331 (GRCm39) |
|
probably benign |
Het |
| Hmox1 |
A |
G |
8: 75,823,931 (GRCm39) |
T200A |
probably benign |
Het |
| Hspa8 |
G |
A |
9: 40,713,920 (GRCm39) |
|
probably null |
Het |
| Isy1 |
C |
A |
6: 87,796,094 (GRCm39) |
R281L |
probably benign |
Het |
| Kiz |
C |
A |
2: 146,697,973 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,371,591 (GRCm39) |
K704R |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,375,147 (GRCm39) |
D4484E |
probably damaging |
Het |
| Lrrc7 |
C |
A |
3: 157,869,903 (GRCm39) |
|
probably benign |
Het |
| Mtmr14 |
T |
C |
6: 113,216,543 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,438,474 (GRCm39) |
V660E |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,570,513 (GRCm39) |
I1190T |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,376 (GRCm39) |
R318G |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,210,596 (GRCm39) |
T1739A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or5h18 |
C |
T |
16: 58,847,791 (GRCm39) |
V160I |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,126,957 (GRCm39) |
E722G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,662,656 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,277,923 (GRCm39) |
F413I |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,392,628 (GRCm39) |
Y24C |
probably damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,988 (GRCm39) |
S103P |
probably damaging |
Het |
| Rtn1 |
G |
T |
12: 72,355,156 (GRCm39) |
Y263* |
probably null |
Het |
| Slc22a1 |
T |
C |
17: 12,875,933 (GRCm39) |
E427G |
probably benign |
Het |
| Speg |
A |
G |
1: 75,393,727 (GRCm39) |
T1695A |
probably damaging |
Het |
| Tlx3 |
C |
A |
11: 33,153,315 (GRCm39) |
G49W |
probably damaging |
Het |
| Tor1b |
A |
G |
2: 30,846,928 (GRCm39) |
M292V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,854 (GRCm39) |
L128Q |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfc3h1 |
G |
A |
10: 115,263,621 (GRCm39) |
V1821I |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,477,272 (GRCm39) |
T3271S |
possibly damaging |
Het |
| Zfp386 |
G |
T |
12: 116,018,329 (GRCm39) |
|
probably benign |
Het |
| Zfp574 |
A |
T |
7: 24,779,323 (GRCm39) |
K115M |
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 |
|
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 |
|
R6514:H2-M11
|
UTSW |
17 |
36,859,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGGGTTGACACCTCTTCCTCAAG -3'
(R):5'- TCTCCTGTGGCAGGGCATTTTC -3'
Sequencing Primer
(F):5'- TGATCCGTAAGGTCAGACCTG -3'
(R):5'- CAGGGCATTTTCACAGCTTAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation