Incidental Mutation 'R6013:H2-T23'
| ID |
479879 |
| 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 |
044189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36340869-36343593 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36341474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 332
(H332Q)
|
| 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: H332Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099739
Gene: ENSMUSG00000067212
AA Change: H332Q
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (54/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008P02Rik |
C |
T |
3: 6,682,310 (GRCm39) |
|
probably null |
Het |
| Aanat |
A |
T |
11: 116,486,950 (GRCm39) |
|
probably null |
Het |
| Abca17 |
A |
T |
17: 24,506,820 (GRCm39) |
V1178E |
possibly damaging |
Het |
| Abcf3 |
T |
A |
16: 20,369,311 (GRCm39) |
|
probably null |
Het |
| Alk |
A |
G |
17: 72,207,732 (GRCm39) |
M1001T |
probably benign |
Het |
| Arhgap23 |
C |
A |
11: 97,391,818 (GRCm39) |
S1445Y |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,447,538 (GRCm39) |
I760T |
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,768,572 (GRCm39) |
|
probably benign |
Het |
| Car10 |
A |
T |
11: 93,076,105 (GRCm39) |
|
probably benign |
Het |
| Casq2 |
G |
T |
3: 102,052,945 (GRCm39) |
|
probably null |
Het |
| Cemip2 |
G |
A |
19: 21,809,403 (GRCm39) |
V928I |
possibly damaging |
Het |
| Clec4f |
T |
C |
6: 83,632,070 (GRCm39) |
I55V |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 96,010,949 (GRCm39) |
|
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,972,098 (GRCm39) |
|
probably null |
Het |
| Cyp2c39 |
A |
C |
19: 39,501,969 (GRCm39) |
R119S |
probably benign |
Het |
| Cyp4f16 |
C |
T |
17: 32,765,652 (GRCm39) |
A345V |
probably null |
Het |
| Ddx43 |
T |
C |
9: 78,321,567 (GRCm39) |
L412S |
probably damaging |
Het |
| Dnajb12 |
G |
A |
10: 59,730,163 (GRCm39) |
|
probably null |
Het |
| Ephx2 |
A |
G |
14: 66,347,691 (GRCm39) |
S56P |
probably benign |
Het |
| Fam83h |
A |
G |
15: 75,875,849 (GRCm39) |
F496S |
probably damaging |
Het |
| Gcnt4 |
T |
C |
13: 97,083,786 (GRCm39) |
S361P |
possibly damaging |
Het |
| Hrob |
T |
C |
11: 102,145,859 (GRCm39) |
V45A |
probably benign |
Het |
| Ift57 |
G |
T |
16: 49,519,667 (GRCm39) |
|
probably null |
Het |
| Il1rl2 |
A |
G |
1: 40,391,017 (GRCm39) |
H320R |
possibly damaging |
Het |
| Kansl1 |
A |
G |
11: 104,241,465 (GRCm39) |
V618A |
probably benign |
Het |
| Kctd3 |
T |
C |
1: 188,728,665 (GRCm39) |
E157G |
probably benign |
Het |
| Magohb |
T |
A |
6: 131,270,037 (GRCm39) |
D31V |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,715,713 (GRCm39) |
F1993L |
probably damaging |
Het |
| Med29 |
C |
A |
7: 28,086,418 (GRCm39) |
C130F |
probably benign |
Het |
| Mtmr7 |
G |
A |
8: 41,034,570 (GRCm39) |
R251C |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,211,903 (GRCm39) |
I49V |
probably benign |
Het |
| Nfkb1 |
G |
T |
3: 135,332,445 (GRCm39) |
T109K |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,819,452 (GRCm39) |
|
probably null |
Het |
| Pkp1 |
T |
A |
1: 135,811,648 (GRCm39) |
T408S |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,073,510 (GRCm39) |
D501E |
possibly damaging |
Het |
| Prcp |
A |
C |
7: 92,576,976 (GRCm39) |
Y335S |
possibly damaging |
Het |
| Reg2 |
T |
A |
6: 78,384,952 (GRCm39) |
Y165N |
possibly damaging |
Het |
| Rnf7 |
T |
C |
9: 96,353,787 (GRCm39) |
*114W |
probably null |
Het |
| Scg3 |
T |
C |
9: 75,584,090 (GRCm39) |
D137G |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,377,919 (GRCm39) |
V204A |
probably benign |
Het |
| Sez6 |
C |
T |
11: 77,864,623 (GRCm39) |
H528Y |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,039,457 (GRCm39) |
S723T |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 58,963,533 (GRCm39) |
D594G |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,063,904 (GRCm39) |
L2174P |
probably damaging |
Het |
| Stk25 |
A |
G |
1: 93,553,181 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
T |
14: 51,098,505 (GRCm39) |
F429I |
probably damaging |
Het |
| Thada |
T |
A |
17: 84,580,228 (GRCm39) |
I1409F |
probably benign |
Het |
| Usp25 |
G |
A |
16: 76,873,909 (GRCm39) |
G495E |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,231,114 (GRCm39) |
S844G |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,341,287 (GRCm39) |
H1176L |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,918,129 (GRCm39) |
N96D |
probably damaging |
Het |
| Zfand6 |
C |
A |
7: 84,281,900 (GRCm39) |
V110L |
probably benign |
Het |
| Zfp30 |
A |
G |
7: 29,488,846 (GRCm39) |
R8G |
possibly 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 |
|
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 |
|
|
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'- CTCGCACTTACCTAGAACATGAGC -3'
(R):5'- AGTTGGTCATGGCTCAGAGC -3'
Sequencing Primer
(F):5'- GCATCCTTTTACACCTGTGAGAAG -3'
(R):5'- GCTCAGAGCTGGGATCATAACC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation