Incidental Mutation 'R4517:H2-M10.3'
| ID |
332969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-M10.3
|
| Ensembl Gene |
ENSMUSG00000058124 |
| Gene Name |
histocompatibility 2, M region locus 10.3 |
| Synonyms |
5.3H |
| MMRRC Submission |
041761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R4517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36675896-36679309 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 36678722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073546]
|
| AlphaFold |
Q85ZW6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073546
|
| SMART Domains |
Protein: ENSMUSP00000073236
Gene: ENSMUSG00000058124
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I
|
24 |
202 |
7e-51 |
PFAM |
|
IGc1
|
221 |
292 |
6.58e-22 |
SMART |
|
transmembrane domain
|
305 |
327 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
95% (39/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank |
A |
G |
15: 27,562,835 (GRCm39) |
H181R |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,635 (GRCm39) |
K408E |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,795,525 (GRCm39) |
D123V |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,850,566 (GRCm39) |
I340V |
probably benign |
Het |
| Echs1 |
A |
G |
7: 139,692,409 (GRCm39) |
S113P |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,361,059 (GRCm39) |
I391V |
probably benign |
Het |
| Glb1l |
C |
T |
1: 75,185,347 (GRCm39) |
C121Y |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
| Ibsp |
C |
A |
5: 104,453,863 (GRCm39) |
S67* |
probably null |
Het |
| Ifit1bl2 |
C |
T |
19: 34,607,164 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,800,569 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
G |
14: 23,387,097 (GRCm39) |
S982P |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,213,272 (GRCm39) |
S707G |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,589,323 (GRCm39) |
I437V |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,855,545 (GRCm39) |
|
probably benign |
Het |
| Mcu |
T |
C |
10: 59,303,456 (GRCm39) |
Y127C |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,031 (GRCm39) |
Y284C |
probably damaging |
Het |
| Nr2f2 |
T |
G |
7: 70,007,870 (GRCm39) |
N204T |
probably benign |
Het |
| Or13a26 |
A |
G |
7: 140,285,004 (GRCm39) |
Y280C |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,877 (GRCm39) |
Y279* |
probably null |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcf11 |
T |
C |
7: 92,295,696 (GRCm39) |
Y1451C |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,047,097 (GRCm39) |
S920P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Tas2r135 |
A |
T |
6: 42,383,013 (GRCm39) |
H184L |
probably benign |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,475 (GRCm39) |
Y534C |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 29,969,683 (GRCm39) |
V259A |
probably damaging |
Het |
| Whrn |
A |
G |
4: 63,379,517 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in H2-M10.3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02223:H2-M10.3
|
APN |
17 |
36,678,972 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02410:H2-M10.3
|
APN |
17 |
36,677,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02625:H2-M10.3
|
APN |
17 |
36,678,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03218:H2-M10.3
|
APN |
17 |
36,678,279 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0815:H2-M10.3
|
UTSW |
17 |
36,677,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0863:H2-M10.3
|
UTSW |
17 |
36,677,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:H2-M10.3
|
UTSW |
17 |
36,677,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1737:H2-M10.3
|
UTSW |
17 |
36,679,296 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1833:H2-M10.3
|
UTSW |
17 |
36,678,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:H2-M10.3
|
UTSW |
17 |
36,678,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:H2-M10.3
|
UTSW |
17 |
36,678,722 (GRCm39) |
splice site |
probably null |
|
|
R4519:H2-M10.3
|
UTSW |
17 |
36,678,722 (GRCm39) |
splice site |
probably null |
|
|
R4834:H2-M10.3
|
UTSW |
17 |
36,678,286 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4863:H2-M10.3
|
UTSW |
17 |
36,677,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5473:H2-M10.3
|
UTSW |
17 |
36,678,261 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6038:H2-M10.3
|
UTSW |
17 |
36,679,287 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6038:H2-M10.3
|
UTSW |
17 |
36,679,287 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7192:H2-M10.3
|
UTSW |
17 |
36,677,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:H2-M10.3
|
UTSW |
17 |
36,677,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7884:H2-M10.3
|
UTSW |
17 |
36,677,174 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9198:H2-M10.3
|
UTSW |
17 |
36,678,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9487:H2-M10.3
|
UTSW |
17 |
36,677,423 (GRCm39) |
missense |
probably benign |
0.42 |
|
Z1177:H2-M10.3
|
UTSW |
17 |
36,678,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:H2-M10.3
|
UTSW |
17 |
36,677,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATTTTGTCCCCAACGTAACC -3'
(R):5'- TGGCATGATTAATTCCCGGTTC -3'
Sequencing Primer
(F):5'- CCCTTAACTAGATCACAATCTGTTG -3'
(R):5'- GGTTCATCCACATTGGCTATGTAGAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation