Incidental Mutation 'R4492:H2-T23'
| ID |
330808 |
| 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 |
041581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R4492 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36340869-36343593 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36343058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 106
(N106K)
|
| 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: N106K
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099739
Gene: ENSMUSG00000067212
AA Change: N106K
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
T |
G |
10: 89,561,676 (GRCm39) |
I157L |
probably benign |
Het |
| Amph |
T |
C |
13: 19,333,928 (GRCm39) |
V663A |
possibly damaging |
Het |
| Anapc16 |
A |
G |
10: 59,826,724 (GRCm39) |
S50P |
possibly damaging |
Het |
| Ank3 |
T |
A |
10: 69,644,755 (GRCm39) |
V60D |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,746,545 (GRCm39) |
Y94H |
probably damaging |
Het |
| Chil3 |
A |
G |
3: 106,063,017 (GRCm39) |
I191T |
probably damaging |
Het |
| Clpb |
T |
C |
7: 101,436,929 (GRCm39) |
L668P |
probably damaging |
Het |
| Cyp2d22 |
G |
A |
15: 82,258,571 (GRCm39) |
H97Y |
probably benign |
Het |
| Dhrs7 |
A |
T |
12: 72,699,899 (GRCm39) |
N244K |
probably damaging |
Het |
| Dusp4 |
C |
T |
8: 35,274,890 (GRCm39) |
T3M |
possibly damaging |
Het |
| Edc4 |
GGATTTTAGCCA |
G |
8: 106,611,700 (GRCm39) |
|
probably null |
Het |
| Etl4 |
G |
A |
2: 20,811,676 (GRCm39) |
S1621N |
possibly damaging |
Het |
| Fam174a |
T |
C |
1: 95,241,701 (GRCm39) |
S54P |
probably benign |
Het |
| Fdxacb1 |
T |
C |
9: 50,681,547 (GRCm39) |
F7S |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
| Gpr156 |
T |
A |
16: 37,812,468 (GRCm39) |
L268H |
probably damaging |
Het |
| Gpr17 |
A |
T |
18: 32,080,304 (GRCm39) |
I253N |
possibly damaging |
Het |
| Hspa4 |
T |
C |
11: 53,171,296 (GRCm39) |
R303G |
probably damaging |
Het |
| Irgm1 |
G |
A |
11: 48,756,955 (GRCm39) |
|
silent |
Het |
| Jph1 |
A |
C |
1: 17,067,770 (GRCm39) |
I114S |
probably damaging |
Het |
| Kcna1 |
C |
T |
6: 126,619,238 (GRCm39) |
D361N |
possibly damaging |
Het |
| Kcna4 |
G |
A |
2: 107,126,436 (GRCm39) |
R390Q |
probably damaging |
Het |
| Lum |
C |
A |
10: 97,404,300 (GRCm39) |
P65H |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,711 (GRCm39) |
L134P |
probably benign |
Het |
| Mroh8 |
A |
T |
2: 157,099,960 (GRCm39) |
I248N |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,840,921 (GRCm39) |
T677A |
probably benign |
Het |
| Nup37 |
T |
A |
10: 88,010,791 (GRCm39) |
F257I |
possibly damaging |
Het |
| Or13c3 |
T |
C |
4: 52,855,764 (GRCm39) |
I250V |
probably benign |
Het |
| Or6k6 |
C |
T |
1: 173,944,770 (GRCm39) |
V271I |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
| Pdzd2 |
A |
C |
15: 12,419,567 (GRCm39) |
M501R |
possibly damaging |
Het |
| Pitx1 |
T |
C |
13: 55,976,465 (GRCm39) |
K65E |
probably benign |
Het |
| Pla1a |
C |
T |
16: 38,229,972 (GRCm39) |
A247T |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Prss8 |
A |
G |
7: 127,528,979 (GRCm39) |
S26P |
probably damaging |
Het |
| Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,027,684 (GRCm39) |
C1334S |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,613,146 (GRCm39) |
W385R |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,821,263 (GRCm39) |
M249T |
probably benign |
Het |
| Srsf9 |
T |
A |
5: 115,470,651 (GRCm39) |
I117N |
probably damaging |
Het |
| Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,684,567 (GRCm39) |
H95R |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,770,346 (GRCm39) |
V139A |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,648,125 (GRCm39) |
V1012D |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,815,929 (GRCm39) |
Q379K |
probably damaging |
Het |
| Zfp930 |
C |
T |
8: 69,680,898 (GRCm39) |
Q198* |
probably null |
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 |
|
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'- CCACTTTGCCCAATGTTAGTAGATATC -3'
(R):5'- TCATTGTCGGCTACGTGGAC -3'
Sequencing Primer
(F):5'- AAGAGAAACAAAAGTACAACCCC -3'
(R):5'- TGGACGACACGCAGTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation