Incidental Mutation 'R3121:H2-T23'
ID |
263256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-T23
|
Ensembl Gene |
ENSMUSG00000067212 |
Gene Name |
histocompatibility 2, T region locus 23 |
Synonyms |
Qed-1, H-2T23, 37c, Qa-1, T23b, T23d, Qa1, T18c, T18c(37), 37b |
MMRRC Submission |
040594-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R3121 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
36340869-36343593 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36341855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 248
(M248L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099739
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102678]
|
AlphaFold |
P06339 |
PDB Structure |
Structure of the MHC class Ib molecule Qa-1b [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102678
AA Change: M248L
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099739 Gene: ENSMUSG00000067212 AA Change: M248L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
21 |
199 |
1.9e-93 |
PFAM |
IGc1
|
218 |
289 |
1.89e-22 |
SMART |
transmembrane domain
|
304 |
326 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174471
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174839
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (52/52) |
MGI Phenotype |
PHENOTYPE: CD4+ T cells from mice with a homozygous null mutation have enhanced responses after infection or immunization, are resistant to suppressor activity mediated by a subset of CD8+ T cells, but are more susceptible to NK cell lysis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,966,091 (GRCm39) |
M423K |
probably benign |
Het |
Adamtsl1 |
T |
A |
4: 86,255,246 (GRCm39) |
W780R |
probably damaging |
Het |
Ago3 |
A |
G |
4: 126,311,165 (GRCm39) |
I16T |
probably benign |
Het |
Amph |
T |
A |
13: 19,297,316 (GRCm39) |
L354* |
probably null |
Het |
Ankk1 |
G |
A |
9: 49,338,267 (GRCm39) |
L9F |
probably benign |
Het |
Brdt |
A |
G |
5: 107,525,011 (GRCm39) |
T851A |
probably damaging |
Het |
Bzw2 |
A |
C |
12: 36,170,788 (GRCm39) |
|
probably null |
Het |
Capn7 |
A |
T |
14: 31,081,167 (GRCm39) |
I395F |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,499,591 (GRCm39) |
R864G |
possibly damaging |
Het |
Ccdc50 |
G |
T |
16: 27,228,139 (GRCm39) |
R102L |
possibly damaging |
Het |
Cep83 |
T |
C |
10: 94,622,700 (GRCm39) |
V592A |
probably damaging |
Het |
Cgn |
G |
A |
3: 94,685,792 (GRCm39) |
|
probably benign |
Het |
Cidec |
C |
A |
6: 113,405,086 (GRCm39) |
V195L |
probably benign |
Het |
Cntln |
A |
G |
4: 84,923,289 (GRCm39) |
|
probably benign |
Het |
Cntrob |
A |
T |
11: 69,213,526 (GRCm39) |
L88* |
probably null |
Het |
Dnah17 |
C |
T |
11: 117,931,912 (GRCm39) |
V3687M |
probably damaging |
Het |
Dst |
T |
C |
1: 34,328,729 (GRCm39) |
I4599T |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,285,175 (GRCm39) |
Y320* |
probably null |
Het |
Fam98b |
A |
G |
2: 117,098,408 (GRCm39) |
T293A |
probably damaging |
Het |
Farp1 |
G |
A |
14: 121,460,138 (GRCm39) |
|
probably benign |
Het |
Fat2 |
G |
T |
11: 55,202,622 (GRCm39) |
P151T |
probably damaging |
Het |
Fbxl17 |
A |
T |
17: 63,778,419 (GRCm39) |
M497K |
probably damaging |
Het |
Foxn4 |
T |
C |
5: 114,396,776 (GRCm39) |
T236A |
probably damaging |
Het |
Gm525 |
C |
T |
11: 88,979,374 (GRCm39) |
|
probably benign |
Het |
Golga4 |
C |
A |
9: 118,386,448 (GRCm39) |
T1190K |
possibly damaging |
Het |
Homez |
T |
C |
14: 55,094,778 (GRCm39) |
E310G |
probably benign |
Het |
Hydin |
A |
G |
8: 111,233,138 (GRCm39) |
I1746V |
probably benign |
Het |
Igkv1-35 |
T |
A |
6: 69,988,641 (GRCm39) |
H6L |
probably benign |
Het |
Kcnt2 |
T |
C |
1: 140,356,622 (GRCm39) |
S354P |
probably damaging |
Het |
Khdc4 |
A |
G |
3: 88,596,599 (GRCm39) |
T127A |
probably damaging |
Het |
Klra4 |
G |
T |
6: 130,040,141 (GRCm39) |
Q44K |
probably benign |
Het |
L3mbtl3 |
A |
G |
10: 26,220,119 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
C |
T |
12: 31,337,528 (GRCm39) |
R372C |
probably damaging |
Het |
Magea14 |
A |
T |
X: 51,057,968 (GRCm39) |
Y239* |
probably null |
Het |
Map3k9 |
A |
G |
12: 81,790,698 (GRCm39) |
I285T |
probably damaging |
Het |
Or4a47 |
T |
A |
2: 89,665,858 (GRCm39) |
I144L |
probably benign |
Het |
Or6c6 |
A |
G |
10: 129,186,552 (GRCm39) |
N40S |
possibly damaging |
Het |
Pcdhb16 |
A |
T |
18: 37,611,271 (GRCm39) |
Q77L |
possibly damaging |
Het |
Pramel20 |
T |
A |
4: 143,297,583 (GRCm39) |
M1K |
probably null |
Het |
Proser3 |
A |
G |
7: 30,239,796 (GRCm39) |
V436A |
probably benign |
Het |
Relch |
A |
G |
1: 105,653,524 (GRCm39) |
N834S |
probably benign |
Het |
Resf1 |
T |
A |
6: 149,230,741 (GRCm39) |
C1262* |
probably null |
Het |
Sec24b |
C |
T |
3: 129,795,953 (GRCm39) |
|
probably null |
Het |
Slc2a2 |
A |
G |
3: 28,775,898 (GRCm39) |
Q336R |
probably benign |
Het |
Sowahb |
T |
C |
5: 93,191,261 (GRCm39) |
D486G |
possibly damaging |
Het |
Spidr |
T |
C |
16: 15,958,724 (GRCm39) |
K13E |
probably damaging |
Het |
Tiam2 |
T |
A |
17: 3,489,977 (GRCm39) |
M786K |
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,964,808 (GRCm39) |
V122E |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,451,172 (GRCm39) |
I729M |
possibly damaging |
Het |
Zbbx |
T |
C |
3: 74,989,153 (GRCm39) |
T317A |
possibly damaging |
Het |
Zfp976 |
A |
G |
7: 42,262,938 (GRCm39) |
C300R |
probably damaging |
Het |
|
Other mutations in H2-T23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00435:H2-T23
|
APN |
17 |
36,342,673 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01685:H2-T23
|
APN |
17 |
36,343,536 (GRCm39) |
missense |
probably benign |
0.29 |
IGL02756:H2-T23
|
APN |
17 |
36,342,580 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03036:H2-T23
|
APN |
17 |
36,343,249 (GRCm39) |
missense |
possibly damaging |
0.73 |
LCD18:H2-T23
|
UTSW |
17 |
36,342,108 (GRCm39) |
intron |
probably benign |
|
R0539:H2-T23
|
UTSW |
17 |
36,343,033 (GRCm39) |
splice site |
probably benign |
|
R0845:H2-T23
|
UTSW |
17 |
36,341,475 (GRCm39) |
missense |
probably benign |
0.00 |
R1727:H2-T23
|
UTSW |
17 |
36,342,545 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2044:H2-T23
|
UTSW |
17 |
36,343,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R3122:H2-T23
|
UTSW |
17 |
36,341,855 (GRCm39) |
missense |
probably benign |
0.13 |
R3943:H2-T23
|
UTSW |
17 |
36,341,535 (GRCm39) |
missense |
probably benign |
0.01 |
R3944:H2-T23
|
UTSW |
17 |
36,341,535 (GRCm39) |
missense |
probably benign |
0.01 |
R4492:H2-T23
|
UTSW |
17 |
36,343,058 (GRCm39) |
missense |
probably damaging |
0.97 |
R4660:H2-T23
|
UTSW |
17 |
36,341,108 (GRCm39) |
missense |
probably damaging |
0.99 |
R4669:H2-T23
|
UTSW |
17 |
36,342,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R4740:H2-T23
|
UTSW |
17 |
36,343,016 (GRCm39) |
intron |
probably benign |
|
R5151:H2-T23
|
UTSW |
17 |
36,343,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R5196:H2-T23
|
UTSW |
17 |
36,343,499 (GRCm39) |
critical splice donor site |
probably null |
|
R5237:H2-T23
|
UTSW |
17 |
36,341,258 (GRCm39) |
splice site |
probably null |
|
R5307:H2-T23
|
UTSW |
17 |
36,343,108 (GRCm39) |
missense |
probably benign |
0.00 |
R5336:H2-T23
|
UTSW |
17 |
36,342,550 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5646:H2-T23
|
UTSW |
17 |
36,342,695 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5800:H2-T23
|
UTSW |
17 |
36,342,496 (GRCm39) |
intron |
probably benign |
|
R6013:H2-T23
|
UTSW |
17 |
36,341,474 (GRCm39) |
missense |
probably benign |
0.00 |
R6081:H2-T23
|
UTSW |
17 |
36,342,707 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6382:H2-T23
|
UTSW |
17 |
36,342,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R7043:H2-T23
|
UTSW |
17 |
36,342,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R7134:H2-T23
|
UTSW |
17 |
36,342,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R9383:H2-T23
|
UTSW |
17 |
36,343,227 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9550:H2-T23
|
UTSW |
17 |
36,342,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTATGATCCCAGCTCTGAGCC -3'
(R):5'- GCAAGATGCCTCATCCTTTCAAC -3'
Sequencing Primer
(F):5'- CCAACTCAGGGTCTGCAGAAG -3'
(R):5'- AGATGCCTCATCCTTTCAACTCTCTC -3'
|
Posted On |
2015-02-05 |