Incidental Mutation 'R3943:H2-T23'
ID |
307567 |
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 |
040924-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R3943 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
36340869-36343593 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36341535 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 312
(V312A)
|
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: V312A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000099739 Gene: ENSMUSG00000067212 AA Change: V312A
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
98% (49/50) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp |
A |
G |
2: 168,026,980 (GRCm39) |
I105T |
possibly damaging |
Het |
Atf3 |
A |
G |
1: 190,903,713 (GRCm39) |
I171T |
possibly damaging |
Het |
Atp6v0a1 |
A |
G |
11: 100,946,343 (GRCm39) |
I773V |
probably benign |
Het |
Bltp2 |
T |
A |
11: 78,160,350 (GRCm39) |
L603* |
probably null |
Het |
Cad |
T |
A |
5: 31,229,729 (GRCm39) |
|
probably null |
Het |
Camkv |
T |
A |
9: 107,825,182 (GRCm39) |
D366E |
possibly damaging |
Het |
Dnah8 |
T |
A |
17: 30,913,039 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
G |
4: 98,880,668 (GRCm39) |
S932P |
probably damaging |
Het |
Fam227a |
C |
T |
15: 79,505,060 (GRCm39) |
|
probably benign |
Het |
Fbp2 |
A |
G |
13: 62,989,607 (GRCm39) |
F233S |
possibly damaging |
Het |
Gnptab |
G |
T |
10: 88,269,756 (GRCm39) |
V820L |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Gpr158 |
C |
A |
2: 21,373,370 (GRCm39) |
R102S |
possibly damaging |
Het |
Gramd1b |
A |
T |
9: 40,442,340 (GRCm39) |
M1K |
probably null |
Het |
Hltf |
A |
T |
3: 20,146,908 (GRCm39) |
I494F |
probably damaging |
Het |
Il16 |
G |
A |
7: 83,301,223 (GRCm39) |
L300F |
probably damaging |
Het |
Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
Kcnq1 |
T |
C |
7: 142,979,825 (GRCm39) |
L657P |
probably damaging |
Het |
Krt4 |
G |
A |
15: 101,829,685 (GRCm39) |
T281M |
probably benign |
Het |
Mia3 |
A |
G |
1: 183,140,127 (GRCm39) |
F196S |
possibly damaging |
Het |
Naip6 |
T |
C |
13: 100,431,247 (GRCm39) |
T1197A |
probably benign |
Het |
Nrxn2 |
T |
A |
19: 6,523,365 (GRCm39) |
N204K |
probably damaging |
Het |
Or7g27 |
T |
A |
9: 19,250,371 (GRCm39) |
M205K |
probably benign |
Het |
Rassf6 |
G |
T |
5: 90,752,185 (GRCm39) |
Q258K |
possibly damaging |
Het |
Rhpn1 |
T |
C |
15: 75,583,655 (GRCm39) |
L380P |
probably damaging |
Het |
Ribc2 |
A |
G |
15: 85,019,451 (GRCm39) |
M78V |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,799,950 (GRCm39) |
H73L |
probably damaging |
Het |
Smg6 |
G |
A |
11: 74,820,367 (GRCm39) |
G213R |
probably damaging |
Het |
Sspn |
T |
A |
6: 145,880,083 (GRCm39) |
W62R |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,528,710 (GRCm39) |
S1656G |
probably benign |
Het |
Svep1 |
T |
A |
4: 58,084,807 (GRCm39) |
|
probably null |
Het |
Tab1 |
T |
C |
15: 80,037,941 (GRCm39) |
L258P |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Trf |
T |
A |
9: 103,100,151 (GRCm39) |
I271F |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,673,138 (GRCm39) |
N538K |
possibly damaging |
Het |
Usp28 |
T |
A |
9: 48,911,666 (GRCm39) |
L25I |
probably benign |
Het |
Vmn2r14 |
A |
T |
5: 109,363,930 (GRCm39) |
I662N |
probably damaging |
Het |
Vmn2r42 |
A |
T |
7: 8,197,779 (GRCm39) |
F280Y |
possibly damaging |
Het |
Vps8 |
A |
T |
16: 21,288,873 (GRCm39) |
N411Y |
probably damaging |
Het |
Vwa2 |
T |
G |
19: 56,897,747 (GRCm39) |
L684R |
probably damaging |
Het |
Zfp712 |
T |
C |
13: 67,189,396 (GRCm39) |
Q377R |
probably benign |
Het |
Zfp947 |
C |
A |
17: 22,364,801 (GRCm39) |
G291V |
probably damaging |
Het |
Zpld2 |
T |
C |
4: 133,927,656 (GRCm39) |
T366A |
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 |
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 |
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 |
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'- AACTGACAGCTGACCCAGTTG -3'
(R):5'- ATGTGTACCATGAGGGGCTG -3'
Sequencing Primer
(F):5'- ACAGCTGACCCAGTTGGAGAC -3'
(R):5'- ATGAGGGGCTGCCTGAG -3'
|
Posted On |
2015-04-17 |