Incidental Mutation 'R3029:H2-M11'
ID |
265919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-M11
|
Ensembl Gene |
ENSMUSG00000037537 |
Gene Name |
histocompatibility 2, M region locus 11 |
Synonyms |
|
MMRRC Submission |
040545-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R3029 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
36857967-36860142 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 36859042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 194
(T194I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041964]
|
AlphaFold |
F6U8V3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041964
AA Change: T194I
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000042522 Gene: ENSMUSG00000037537 AA Change: T194I
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
A |
G |
1: 85,645,966 (GRCm39) |
I213T |
probably benign |
Het |
Atp8a2 |
CGT |
CGTGT |
14: 59,928,914 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cdk6 |
G |
A |
5: 3,440,817 (GRCm39) |
|
probably null |
Het |
Cryab |
T |
A |
9: 50,667,638 (GRCm39) |
I124N |
probably damaging |
Het |
E2f5 |
A |
G |
3: 14,668,725 (GRCm39) |
I206V |
probably benign |
Het |
Eya4 |
T |
C |
10: 22,999,776 (GRCm39) |
T396A |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,175,535 (GRCm39) |
Y1726C |
probably damaging |
Het |
Gad1 |
G |
A |
2: 70,425,034 (GRCm39) |
V443I |
probably benign |
Het |
Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
Itgad |
T |
A |
7: 127,777,543 (GRCm39) |
I141N |
possibly damaging |
Het |
Kcnh1 |
C |
T |
1: 192,188,368 (GRCm39) |
T970M |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nlrp1a |
T |
A |
11: 71,014,456 (GRCm39) |
T265S |
probably damaging |
Het |
Nsun4 |
A |
G |
4: 115,909,922 (GRCm39) |
S213P |
possibly damaging |
Het |
Pkdrej |
C |
T |
15: 85,701,205 (GRCm39) |
R1577Q |
probably benign |
Het |
Proz |
A |
T |
8: 13,111,042 (GRCm39) |
I5F |
probably benign |
Het |
Rbm48 |
A |
T |
5: 3,646,043 (GRCm39) |
F54I |
possibly damaging |
Het |
Rgs20 |
T |
C |
1: 5,140,276 (GRCm39) |
D42G |
probably benign |
Het |
Rxfp2 |
A |
C |
5: 149,966,595 (GRCm39) |
D111A |
probably benign |
Het |
Sparcl1 |
T |
C |
5: 104,241,092 (GRCm39) |
T111A |
possibly damaging |
Het |
Vmn2r14 |
T |
A |
5: 109,363,776 (GRCm39) |
L713F |
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 |
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'- TCACACAATCCAGAGAAGGTATGG -3'
(R):5'- GAGAGTCCCTCCTTCATGTTG -3'
Sequencing Primer
(F):5'- CTGCCTCGAGGGTATTTCAGAAAC -3'
(R):5'- CCTTCATGTTGATTCAAGAAACCC -3'
|
Posted On |
2015-02-05 |