Incidental Mutation 'R6382:H2-T23'
ID |
515395 |
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 |
044531-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R6382 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
36340869-36343593 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36342724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 138
(Y138C)
|
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 damaging
Transcript: ENSMUST00000102678
AA Change: Y138C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099739 Gene: ENSMUSG00000067212 AA Change: Y138C
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.5%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
T |
A |
16: 8,418,850 (GRCm39) |
M148K |
probably benign |
Het |
Aldoc |
T |
C |
11: 78,216,568 (GRCm39) |
I242T |
probably benign |
Het |
Camta2 |
T |
C |
11: 70,562,867 (GRCm39) |
T927A |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,261,363 (GRCm39) |
R25G |
possibly damaging |
Het |
Cdh16 |
T |
A |
8: 105,348,175 (GRCm39) |
M181L |
possibly damaging |
Het |
Clstn1 |
A |
T |
4: 149,710,577 (GRCm39) |
|
probably null |
Het |
Cnot6l |
C |
A |
5: 96,276,858 (GRCm39) |
R110L |
probably damaging |
Het |
Col7a1 |
G |
A |
9: 108,804,461 (GRCm39) |
S2264N |
unknown |
Het |
Cspp1 |
A |
G |
1: 10,153,700 (GRCm39) |
|
probably null |
Het |
Cul1 |
T |
A |
6: 47,479,373 (GRCm39) |
L213Q |
probably damaging |
Het |
Cuta |
T |
C |
17: 27,157,428 (GRCm39) |
Q124R |
probably benign |
Het |
Cyp1a1 |
T |
A |
9: 57,607,973 (GRCm39) |
N200K |
probably damaging |
Het |
Dag1 |
C |
A |
9: 108,085,336 (GRCm39) |
A602S |
possibly damaging |
Het |
Ftdc1 |
T |
C |
16: 58,434,273 (GRCm39) |
E148G |
possibly damaging |
Het |
Gm4707 |
G |
A |
17: 71,766,238 (GRCm39) |
|
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
Hpse2 |
A |
G |
19: 43,376,641 (GRCm39) |
L37P |
possibly damaging |
Het |
Hsd17b6 |
A |
T |
10: 127,827,196 (GRCm39) |
I292N |
probably damaging |
Het |
Hsp90aa1 |
A |
T |
12: 110,661,951 (GRCm39) |
|
probably null |
Het |
Ifit1bl1 |
T |
A |
19: 34,572,283 (GRCm39) |
Y58F |
probably benign |
Het |
Igkv10-95 |
A |
G |
6: 68,657,672 (GRCm39) |
T43A |
probably benign |
Het |
Igkv6-17 |
C |
T |
6: 70,348,814 (GRCm39) |
Q62* |
probably null |
Het |
Jakmip2 |
A |
G |
18: 43,704,244 (GRCm39) |
S367P |
possibly damaging |
Het |
Lrrc40 |
A |
G |
3: 157,764,333 (GRCm39) |
D416G |
probably damaging |
Het |
Mdm2 |
A |
G |
10: 117,528,626 (GRCm39) |
V177A |
probably benign |
Het |
Mpp1 |
TGAGACGAACTCTCCGAG |
TGAG |
X: 74,169,375 (GRCm39) |
|
probably null |
Het |
Myo1b |
C |
T |
1: 51,813,466 (GRCm39) |
|
probably null |
Het |
Notch2 |
A |
G |
3: 98,048,859 (GRCm39) |
D1799G |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,890,239 (GRCm39) |
G7431D |
unknown |
Het |
Obscn |
A |
T |
11: 58,933,034 (GRCm39) |
C4781S |
probably damaging |
Het |
Or2a14 |
T |
A |
6: 43,130,899 (GRCm39) |
I220N |
probably damaging |
Het |
Or7a35 |
C |
A |
10: 78,853,351 (GRCm39) |
S65Y |
probably damaging |
Het |
Pard3 |
T |
A |
8: 128,103,264 (GRCm39) |
V411D |
probably damaging |
Het |
Pfkl |
T |
C |
10: 77,835,671 (GRCm39) |
R246G |
probably damaging |
Het |
Pgs1 |
T |
C |
11: 117,894,186 (GRCm39) |
Y238H |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,665,724 (GRCm39) |
E15G |
possibly damaging |
Het |
Pja2 |
A |
G |
17: 64,616,610 (GRCm39) |
V95A |
probably benign |
Het |
Ripor2 |
T |
C |
13: 24,861,828 (GRCm39) |
I207T |
possibly damaging |
Het |
Rps15 |
A |
G |
10: 80,129,820 (GRCm39) |
Y115C |
probably damaging |
Het |
Shkbp1 |
C |
A |
7: 27,051,484 (GRCm39) |
E192* |
probably null |
Het |
Slc23a4 |
T |
A |
6: 34,933,978 (GRCm39) |
M42L |
probably benign |
Het |
Snx25 |
T |
A |
8: 46,509,028 (GRCm39) |
S373C |
probably benign |
Het |
Sppl2a |
A |
T |
2: 126,758,949 (GRCm39) |
|
probably null |
Het |
Tektl1 |
G |
A |
10: 78,588,675 (GRCm39) |
T45I |
possibly damaging |
Het |
Tpcn2 |
A |
G |
7: 144,823,486 (GRCm39) |
S256P |
possibly damaging |
Het |
Txk |
C |
T |
5: 72,893,823 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
C |
G |
17: 47,268,241 (GRCm39) |
W991S |
possibly damaging |
Het |
Ufc1 |
A |
G |
1: 171,122,248 (GRCm39) |
W28R |
probably damaging |
Het |
Unc93b1 |
C |
A |
19: 3,985,297 (GRCm39) |
A35E |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,546,499 (GRCm39) |
N3425S |
probably benign |
Het |
Vmn1r32 |
A |
G |
6: 66,530,345 (GRCm39) |
Y144H |
probably benign |
Het |
Vmn1r76 |
A |
G |
7: 11,664,426 (GRCm39) |
F228L |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,243,813 (GRCm39) |
N715D |
probably benign |
Het |
Zfp933 |
T |
C |
4: 147,910,325 (GRCm39) |
S424G |
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 |
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 |
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'- AGTGTCTCATTTCCCAGCCG -3'
(R):5'- CCGCTGAGACAAAGTTTCATC -3'
Sequencing Primer
(F):5'- CGTAGGTATCTATGGAGCCACTC -3'
(R):5'- AAAGCCCCCGCAGAGTTCTG -3'
|
Posted On |
2018-05-04 |