Incidental Mutation 'R6081:H2-T23'
| ID |
482933 |
| 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 |
044240-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6081 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36340869-36343593 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36342707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 144
(I144F)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000102678
AA Change: I144F
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099739
Gene: ENSMUSG00000067212
AA Change: I144F
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,887,097 (GRCm39) |
M33K |
probably damaging |
Het |
| 4930556J24Rik |
T |
C |
11: 3,888,140 (GRCm39) |
Q82R |
unknown |
Het |
| Adcy9 |
T |
C |
16: 4,112,545 (GRCm39) |
D714G |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ahctf1 |
G |
T |
1: 179,609,237 (GRCm39) |
A639E |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Anxa5 |
C |
T |
3: 36,519,436 (GRCm39) |
D18N |
probably damaging |
Het |
| Apc |
C |
T |
18: 34,423,164 (GRCm39) |
P299L |
possibly damaging |
Het |
| Btnl4 |
C |
A |
17: 34,693,210 (GRCm39) |
W68C |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,281,021 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
G |
T |
19: 31,060,523 (GRCm39) |
V20L |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,119,633 (GRCm39) |
V1703E |
probably damaging |
Het |
| Dhx32 |
A |
G |
7: 133,323,941 (GRCm39) |
F535S |
probably damaging |
Het |
| Diras2 |
T |
C |
13: 52,662,181 (GRCm39) |
D42G |
probably damaging |
Het |
| Dppa3 |
T |
A |
6: 122,606,931 (GRCm39) |
D140E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,391,086 (GRCm39) |
T205I |
probably benign |
Het |
| Gzme |
T |
G |
14: 56,355,764 (GRCm39) |
T183P |
possibly damaging |
Het |
| Hlx |
T |
C |
1: 184,459,894 (GRCm39) |
S415G |
probably benign |
Het |
| Krtap5-3 |
G |
A |
7: 141,755,223 (GRCm39) |
C20Y |
unknown |
Het |
| Mcm8 |
G |
T |
2: 132,670,003 (GRCm39) |
R359L |
probably benign |
Het |
| Mroh2b |
G |
C |
15: 4,973,859 (GRCm39) |
E1126Q |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,398,560 (GRCm39) |
R674H |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Rnaset2b |
T |
A |
17: 7,256,193 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,583,074 (GRCm39) |
K87E |
probably benign |
Het |
| Sec16b |
T |
C |
1: 157,388,324 (GRCm39) |
S564P |
probably benign |
Het |
| Speer4a1 |
A |
T |
5: 26,239,960 (GRCm39) |
C263* |
probably null |
Het |
| Susd1 |
C |
A |
4: 59,411,359 (GRCm39) |
C158F |
possibly damaging |
Het |
| Vmn2r6 |
C |
T |
3: 64,463,953 (GRCm39) |
V294M |
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 |
|
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'- GCAGTGTCTCATTTCCCAGC -3'
(R):5'- GTTTCATCCAAACGCCTACC -3'
Sequencing Primer
(F):5'- AGTGTCTCATTTCCCAGCCGTAG -3'
(R):5'- AAAGCCCCCGCAGAGTTCTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation