Incidental Mutation 'R1271:H2-M1'
| ID |
151327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-M1
|
| Ensembl Gene |
ENSMUSG00000037334 |
| Gene Name |
histocompatibility 2, M region locus 1 |
| Synonyms |
Mb1, H-2M1 |
| MMRRC Submission |
039337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1271 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36980900-36983111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36982137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 155
(T155S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041662]
|
| AlphaFold |
F7CXU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041662
AA Change: T155S
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000040435
Gene: ENSMUSG00000037334
AA Change: T155S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
202 |
7.1e-47 |
PFAM |
|
IGc1
|
221 |
292 |
3.53e-22 |
SMART |
|
transmembrane domain
|
310 |
332 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
A |
T |
1: 52,964,493 (GRCm39) |
D78E |
possibly damaging |
Het |
| 4930447C04Rik |
A |
T |
12: 72,939,657 (GRCm39) |
F419I |
possibly damaging |
Het |
| Abca14 |
T |
C |
7: 119,924,340 (GRCm39) |
V1664A |
probably damaging |
Het |
| Acadvl |
A |
G |
11: 69,905,526 (GRCm39) |
S71P |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,790,617 (GRCm39) |
C916S |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,989,985 (GRCm39) |
T164A |
probably benign |
Het |
| Ccdc18 |
A |
T |
5: 108,349,982 (GRCm39) |
K1045* |
probably null |
Het |
| Cemip2 |
T |
A |
19: 21,801,268 (GRCm39) |
I795N |
possibly damaging |
Het |
| Cfap43 |
C |
T |
19: 47,728,183 (GRCm39) |
E1525K |
probably benign |
Het |
| Cfap43 |
G |
T |
19: 47,736,387 (GRCm39) |
S1368Y |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,874,455 (GRCm39) |
I610L |
probably benign |
Het |
| Des |
A |
T |
1: 75,337,290 (GRCm39) |
T77S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,394,123 (GRCm39) |
V853A |
probably benign |
Het |
| Gabrg1 |
T |
A |
5: 70,934,487 (GRCm39) |
D292V |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,966,859 (GRCm39) |
N26S |
probably benign |
Het |
| Gpsm1 |
G |
T |
2: 26,234,684 (GRCm39) |
R507L |
probably damaging |
Het |
| Hapln3 |
T |
C |
7: 78,767,764 (GRCm39) |
D210G |
probably damaging |
Het |
| Magel2 |
T |
C |
7: 62,030,762 (GRCm39) |
L1222P |
unknown |
Het |
| Mphosph10 |
A |
T |
7: 64,039,832 (GRCm39) |
|
probably null |
Het |
| Mup6 |
A |
T |
4: 60,003,579 (GRCm39) |
|
probably benign |
Het |
| Nsmce1 |
T |
A |
7: 125,070,426 (GRCm39) |
E128D |
probably damaging |
Het |
| Or4c11 |
T |
A |
2: 88,695,475 (GRCm39) |
Y175* |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,249,004 (GRCm39) |
S733T |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,692,013 (GRCm39) |
I377K |
probably damaging |
Het |
| Tnfsf4 |
T |
A |
1: 161,223,274 (GRCm39) |
L41Q |
probably damaging |
Het |
| Tut7 |
A |
C |
13: 59,969,669 (GRCm39) |
N75K |
probably damaging |
Het |
| Usp28 |
G |
A |
9: 48,947,261 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in H2-M1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:H2-M1
|
APN |
17 |
36,982,199 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01671:H2-M1
|
APN |
17 |
36,981,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01870:H2-M1
|
APN |
17 |
36,980,955 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02032:H2-M1
|
APN |
17 |
36,982,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02383:H2-M1
|
APN |
17 |
36,981,141 (GRCm39) |
missense |
unknown |
|
|
IGL02417:H2-M1
|
APN |
17 |
36,983,026 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02700:H2-M1
|
APN |
17 |
36,982,161 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0193:H2-M1
|
UTSW |
17 |
36,982,224 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0715:H2-M1
|
UTSW |
17 |
36,981,120 (GRCm39) |
splice site |
probably benign |
|
|
R1367:H2-M1
|
UTSW |
17 |
36,982,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2120:H2-M1
|
UTSW |
17 |
36,980,929 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4854:H2-M1
|
UTSW |
17 |
36,980,950 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4899:H2-M1
|
UTSW |
17 |
36,982,112 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4963:H2-M1
|
UTSW |
17 |
36,982,630 (GRCm39) |
missense |
probably benign |
|
|
R5243:H2-M1
|
UTSW |
17 |
36,982,193 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6199:H2-M1
|
UTSW |
17 |
36,982,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6276:H2-M1
|
UTSW |
17 |
36,982,602 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6395:H2-M1
|
UTSW |
17 |
36,982,701 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6818:H2-M1
|
UTSW |
17 |
36,981,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7913:H2-M1
|
UTSW |
17 |
36,981,129 (GRCm39) |
splice site |
probably null |
|
|
R9419:H2-M1
|
UTSW |
17 |
36,981,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9640:H2-M1
|
UTSW |
17 |
36,983,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9648:H2-M1
|
UTSW |
17 |
36,982,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9746:H2-M1
|
UTSW |
17 |
36,980,997 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCAAACTCTTCTTCCCAAAGGC -3'
(R):5'- TGCAGACAGCTCAGTCAATGACC -3'
Sequencing Primer
(F):5'- TTCTTCCCAAAGGCCAGGAATC -3'
(R):5'- CATATGGGCTGTGATAATGCAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation