Incidental Mutation 'IGL01685:H2-T23'
ID |
103933 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL01685
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36340869-36343593 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36343536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 9
(Q9R)
|
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: Q9R
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099739 Gene: ENSMUSG00000067212 AA Change: Q9R
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: ENSMUST00000172633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174471
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174839
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
G |
T |
15: 94,301,327 (GRCm39) |
R66S |
possibly damaging |
Het |
Adamtsl4 |
A |
G |
3: 95,591,905 (GRCm39) |
V61A |
possibly damaging |
Het |
Arnt |
A |
G |
3: 95,381,992 (GRCm39) |
Y195C |
probably damaging |
Het |
Brd3 |
A |
G |
2: 27,349,500 (GRCm39) |
I351T |
probably damaging |
Het |
Cd28 |
T |
A |
1: 60,802,307 (GRCm39) |
Y75* |
probably null |
Het |
Cyfip2 |
A |
G |
11: 46,098,315 (GRCm39) |
|
probably benign |
Het |
Dip2a |
T |
G |
10: 76,163,583 (GRCm39) |
E39A |
probably damaging |
Het |
Dst |
T |
C |
1: 34,209,533 (GRCm39) |
V1200A |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,142,297 (GRCm39) |
L1216P |
probably damaging |
Het |
Ecm2 |
A |
T |
13: 49,682,374 (GRCm39) |
I468F |
probably damaging |
Het |
Gucy1b1 |
C |
A |
3: 81,942,592 (GRCm39) |
V517F |
probably benign |
Het |
Huwe1 |
T |
C |
X: 150,681,666 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
T |
8: 111,081,665 (GRCm39) |
K354* |
probably null |
Het |
Ighv14-2 |
A |
T |
12: 113,958,121 (GRCm39) |
S107T |
probably damaging |
Het |
Klk1b8 |
A |
C |
7: 43,604,294 (GRCm39) |
K254T |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,586,937 (GRCm39) |
|
probably benign |
Het |
Macroh2a2 |
C |
T |
10: 61,593,550 (GRCm39) |
S42N |
probably damaging |
Het |
Mbd6 |
G |
T |
10: 127,120,601 (GRCm39) |
|
probably benign |
Het |
Mob1a |
A |
T |
6: 83,309,485 (GRCm39) |
E32D |
probably benign |
Het |
Mrps27 |
A |
T |
13: 99,551,428 (GRCm39) |
Q397L |
possibly damaging |
Het |
Or8b3 |
T |
C |
9: 38,314,317 (GRCm39) |
I46T |
possibly damaging |
Het |
Pcdhb18 |
A |
C |
18: 37,624,984 (GRCm39) |
K771N |
probably benign |
Het |
Pcdhgc5 |
T |
G |
18: 37,954,808 (GRCm39) |
L694R |
probably damaging |
Het |
Pi4ka |
A |
T |
16: 17,143,066 (GRCm39) |
D815E |
probably benign |
Het |
Plin4 |
T |
C |
17: 56,414,362 (GRCm39) |
K88E |
probably damaging |
Het |
Rint1 |
A |
T |
5: 23,992,832 (GRCm39) |
|
probably benign |
Het |
Ssbp1 |
A |
G |
6: 40,453,699 (GRCm39) |
T82A |
probably damaging |
Het |
Trpm5 |
A |
T |
7: 142,636,091 (GRCm39) |
S558T |
probably benign |
Het |
Tti1 |
A |
G |
2: 157,842,705 (GRCm39) |
S775P |
probably benign |
Het |
Zic3 |
T |
C |
X: 57,077,088 (GRCm39) |
V183A |
probably benign |
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 |
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 |
R3121:H2-T23
|
UTSW |
17 |
36,341,855 (GRCm39) |
missense |
probably benign |
0.13 |
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 |
|
Posted On |
2014-01-21 |