Incidental Mutation 'R1388:Mr1'
| ID |
162472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mr1
|
| Ensembl Gene |
ENSMUSG00000026471 |
| Gene Name |
major histocompatibility complex, class I-related |
| Synonyms |
MR1, H2ls |
| MMRRC Submission |
039450-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R1388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
155003620-155022560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155008249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 242
(E242G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027744]
[ENSMUST00000192410]
[ENSMUST00000194612]
|
| AlphaFold |
Q8HWB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027744
AA Change: E242G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027744
Gene: ENSMUSG00000026471
AA Change: E242G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
19 |
194 |
1.8e-59 |
PFAM |
|
Pfam:MHC_I_3
|
46 |
193 |
3.9e-12 |
PFAM |
|
IGc1
|
213 |
284 |
1.51e-12 |
SMART |
|
transmembrane domain
|
297 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192410
|
| SMART Domains |
Protein: ENSMUSP00000141476
Gene: ENSMUSG00000026471
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
19 |
87 |
8e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194612
|
| SMART Domains |
Protein: ENSMUSP00000142195
Gene: ENSMUSG00000026471
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
PDB:4NQE|C
|
19 |
44 |
3e-7 |
PDB |
|
SCOP:d1de4a2
|
19 |
44 |
3e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195579
|
| Meta Mutation Damage Score |
0.2805 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MAIT (mucosal-associated invariant T-cells) lymphocytes represent a small population of T-cells primarily found in the gut. The protein encoded by this gene is an antigen-presenting molecule that presents metabolites of microbial vitamin B to MAITs. This presentation may activate the MAITs to regulate the amounts of specific types of bacteria in the gut. Several transcript variants encoding different isoforms have been found for this gene, and a pseudogene of it has been detected about 36 kbp upstream on the same chromosome. [provided by RefSeq, Jul 2015]
PHENOTYPE: Null homozyogtes lack mucosal-associated invariant T cells that express the canonical mVa19-Ja33 rearrangement of the Tcra gene. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
T |
G |
12: 84,105,761 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,453,919 (GRCm39) |
V152A |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Ccdc174 |
C |
A |
6: 91,858,225 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,417,702 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,415 (GRCm39) |
V550D |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,611,268 (GRCm39) |
|
probably benign |
Het |
| Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
| Gm2959 |
A |
T |
14: 42,235,660 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
A |
G |
16: 26,782,662 (GRCm39) |
L80P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,424,564 (GRCm39) |
D394G |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,432,328 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,501 (GRCm39) |
S70G |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,118,683 (GRCm39) |
S293G |
probably null |
Het |
| Klra4 |
T |
C |
6: 130,039,198 (GRCm39) |
|
probably benign |
Het |
| Kplce |
G |
T |
3: 92,776,356 (GRCm39) |
T109K |
probably damaging |
Het |
| Mrnip |
C |
A |
11: 50,087,772 (GRCm39) |
A98E |
probably benign |
Het |
| Mybpc3 |
C |
T |
2: 90,953,219 (GRCm39) |
P155S |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,546 (GRCm39) |
Y126N |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,948 (GRCm39) |
S192P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,445 (GRCm39) |
V174A |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,041 (GRCm39) |
M243T |
possibly damaging |
Het |
| Ptprr |
A |
G |
10: 116,109,657 (GRCm39) |
S633G |
probably benign |
Het |
| Rasip1 |
T |
A |
7: 45,279,656 (GRCm39) |
S300T |
probably damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,576 (GRCm39) |
H197L |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sim1 |
T |
A |
10: 50,772,090 (GRCm39) |
I33N |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,104 (GRCm39) |
D2878G |
probably damaging |
Het |
| Taf2 |
T |
A |
15: 54,900,021 (GRCm39) |
N864I |
probably benign |
Het |
| Tmem43 |
G |
T |
6: 91,455,785 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,542,135 (GRCm39) |
E25290G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,255,515 (GRCm39) |
|
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,751,277 (GRCm39) |
E260G |
probably damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,240,840 (GRCm39) |
Y91S |
possibly damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,133 (GRCm39) |
N426K |
probably benign |
Het |
| Whamm |
C |
A |
7: 81,236,038 (GRCm39) |
L414I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,447 (GRCm39) |
T2227A |
probably damaging |
Het |
| Zfp866 |
C |
T |
8: 70,218,834 (GRCm39) |
R262Q |
probably benign |
Het |
|
| Other mutations in Mr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03216:Mr1
|
APN |
1 |
155,005,035 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0612:Mr1
|
UTSW |
1 |
155,013,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Mr1
|
UTSW |
1 |
155,008,201 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2157:Mr1
|
UTSW |
1 |
155,022,376 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2437:Mr1
|
UTSW |
1 |
155,008,277 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3421:Mr1
|
UTSW |
1 |
155,013,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4224:Mr1
|
UTSW |
1 |
155,006,465 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4240:Mr1
|
UTSW |
1 |
155,012,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4711:Mr1
|
UTSW |
1 |
155,012,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4849:Mr1
|
UTSW |
1 |
155,006,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5915:Mr1
|
UTSW |
1 |
155,012,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6882:Mr1
|
UTSW |
1 |
155,008,199 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6940:Mr1
|
UTSW |
1 |
155,005,014 (GRCm39) |
makesense |
probably null |
|
|
R7315:Mr1
|
UTSW |
1 |
155,005,036 (GRCm39) |
missense |
probably benign |
|
|
R7567:Mr1
|
UTSW |
1 |
155,022,474 (GRCm39) |
start gained |
probably benign |
|
|
R7751:Mr1
|
UTSW |
1 |
155,005,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Mr1
|
UTSW |
1 |
155,006,382 (GRCm39) |
nonsense |
probably null |
|
|
R9250:Mr1
|
UTSW |
1 |
155,013,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9284:Mr1
|
UTSW |
1 |
155,013,274 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9654:Mr1
|
UTSW |
1 |
155,013,430 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGGTGAAGCCTGTGGTGAC -3'
(R):5'- TTGCCTACGGCATGGGAGGAAG -3'
Sequencing Primer
(F):5'- AGTGACCCAGCATCCCTTC -3'
(R):5'- GTGGTAAGTTCAGTATCCAAGACCC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation