Incidental Mutation 'R3762:H2-M10.1'
| ID |
270570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-M10.1
|
| Ensembl Gene |
ENSMUSG00000024448 |
| Gene Name |
histocompatibility 2, M region locus 10.1 |
| Synonyms |
9.5H |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3762 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36633752-36637042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36636216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 117
(H117L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025322]
|
| AlphaFold |
O19443 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025322
AA Change: H117L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025322
Gene: ENSMUSG00000024448
AA Change: H117L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
203 |
3.2e-54 |
PFAM |
|
IGc1
|
222 |
293 |
3.72e-21 |
SMART |
|
transmembrane domain
|
306 |
328 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000172576
AA Change: H72L
|
| SMART Domains |
Protein: ENSMUSP00000133408
Gene: ENSMUSG00000024448
AA Change: H72L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I
|
12 |
159 |
5e-43 |
PFAM |
|
IGc1
|
178 |
249 |
3.72e-21 |
SMART |
|
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap35 |
A |
T |
7: 16,299,000 (GRCm39) |
S22T |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,845,351 (GRCm39) |
I718T |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,232,890 (GRCm39) |
|
probably null |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Defa41 |
C |
T |
8: 21,691,753 (GRCm39) |
S45F |
probably damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,995,352 (GRCm39) |
M999L |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,676,672 (GRCm39) |
E374G |
probably damaging |
Het |
| Gatad2a |
T |
C |
8: 70,368,930 (GRCm39) |
|
probably null |
Het |
| Gm826 |
C |
A |
2: 160,155,423 (GRCm39) |
|
probably benign |
Het |
| Klhl9 |
A |
T |
4: 88,639,830 (GRCm39) |
V137D |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,186,183 (GRCm39) |
Y828C |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,046,341 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,361,212 (GRCm39) |
T1507S |
possibly damaging |
Het |
| Pak6 |
A |
T |
2: 118,526,958 (GRCm39) |
Q651L |
probably damaging |
Het |
| Plscr2 |
T |
A |
9: 92,173,133 (GRCm39) |
V90D |
probably damaging |
Het |
| Rbbp4 |
G |
A |
4: 129,228,344 (GRCm39) |
T2I |
probably damaging |
Het |
| Rnf121 |
G |
A |
7: 101,673,244 (GRCm39) |
T223M |
probably damaging |
Het |
| Rsph6a |
A |
G |
7: 18,789,256 (GRCm39) |
K196R |
probably damaging |
Het |
| Tex47 |
A |
T |
5: 7,355,529 (GRCm39) |
I237L |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn1r30 |
C |
A |
6: 58,412,278 (GRCm39) |
V185L |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,411 (GRCm39) |
E728D |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,033 (GRCm39) |
Y320N |
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,724,902 (GRCm39) |
F188Y |
probably damaging |
Het |
|
| Other mutations in H2-M10.1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01909:H2-M10.1
|
APN |
17 |
36,635,971 (GRCm39) |
nonsense |
probably null |
|
|
IGL02063:H2-M10.1
|
APN |
17 |
36,634,901 (GRCm39) |
splice site |
probably benign |
|
|
R1572:H2-M10.1
|
UTSW |
17 |
36,636,625 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1651:H2-M10.1
|
UTSW |
17 |
36,636,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:H2-M10.1
|
UTSW |
17 |
36,636,108 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2251:H2-M10.1
|
UTSW |
17 |
36,636,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3508:H2-M10.1
|
UTSW |
17 |
36,636,506 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3892:H2-M10.1
|
UTSW |
17 |
36,635,281 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3922:H2-M10.1
|
UTSW |
17 |
36,636,577 (GRCm39) |
missense |
probably benign |
|
|
R5120:H2-M10.1
|
UTSW |
17 |
36,636,048 (GRCm39) |
missense |
probably benign |
|
|
R6258:H2-M10.1
|
UTSW |
17 |
36,634,994 (GRCm39) |
missense |
unknown |
|
|
R6260:H2-M10.1
|
UTSW |
17 |
36,634,994 (GRCm39) |
missense |
unknown |
|
|
R6988:H2-M10.1
|
UTSW |
17 |
36,636,484 (GRCm39) |
missense |
probably benign |
|
|
R7291:H2-M10.1
|
UTSW |
17 |
36,636,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8229:H2-M10.1
|
UTSW |
17 |
36,634,931 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9309:H2-M10.1
|
UTSW |
17 |
36,636,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTCCCCTTGCAGGTAAG -3'
(R):5'- TAAGCTCGACTCTAGGTCCC -3'
Sequencing Primer
(F):5'- GCAGGTAAGTCTTCCTCCG -3'
(R):5'- TCTAGGTCCCCAAGTCAGAGATG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation