Incidental Mutation 'R8362:H13'
| ID |
645987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H13
|
| Ensembl Gene |
ENSMUSG00000019188 |
| Gene Name |
histocompatibility 13 |
| Synonyms |
H-13, Hm13, 1200006O09Rik, 4930443L17Rik, 5031424B04Rik, Spp |
| MMRRC Submission |
067808-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8362 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
152511381-152550590 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 152528311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 220
(I220N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062148]
[ENSMUST00000079247]
[ENSMUST00000089059]
[ENSMUST00000109825]
[ENSMUST00000125366]
|
| AlphaFold |
Q9D8V0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062148
|
| SMART Domains |
Protein: ENSMUSP00000100534
Gene: ENSMUSG00000042814
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PSN
|
40 |
63 |
9e-7 |
BLAST |
|
PUA
|
93 |
171 |
3.41e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079247
|
| SMART Domains |
Protein: ENSMUSP00000078236
Gene: ENSMUSG00000019188
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
PSN
|
66 |
295 |
1.74e-76 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089059
|
| SMART Domains |
Protein: ENSMUSP00000086460
Gene: ENSMUSG00000019188
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
PSN
|
66 |
337 |
1.56e-119 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000109825
AA Change: I220N
|
| SMART Domains |
Protein: ENSMUSP00000105450
Gene: ENSMUSG00000019188
AA Change: I220N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_A22B
|
62 |
174 |
3.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125366
|
| SMART Domains |
Protein: ENSMUSP00000120068
Gene: ENSMUSG00000019188
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
PSN
|
66 |
337 |
1.56e-119 |
SMART |
|
low complexity region
|
355 |
371 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: This is one of several loci identified by development of congenic strains differing in resistance to transplantable tumors. C57BL/10 carries the a allele and B10.129(14M) carries the b allele. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
A |
19: 8,867,395 (GRCm39) |
S65T |
probably damaging |
Het |
| Abcb1b |
A |
T |
5: 8,848,758 (GRCm39) |
N6I |
probably benign |
Het |
| Abr |
A |
T |
11: 76,369,954 (GRCm39) |
I145N |
probably benign |
Het |
| Alcam |
A |
T |
16: 52,115,387 (GRCm39) |
Y244N |
probably damaging |
Het |
| Amotl1 |
G |
A |
9: 14,556,218 (GRCm39) |
A36V |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,618,797 (GRCm39) |
L1685Q |
probably damaging |
Het |
| Ascc3 |
A |
C |
10: 50,518,692 (GRCm39) |
Q332H |
possibly damaging |
Het |
| Cdc42bpa |
C |
T |
1: 179,989,690 (GRCm39) |
L1720F |
probably damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,027,602 (GRCm39) |
S20P |
probably benign |
Het |
| Cpt1a |
C |
T |
19: 3,420,744 (GRCm39) |
R401* |
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,576,788 (GRCm39) |
Y3013N |
probably damaging |
Het |
| Dop1a |
G |
A |
9: 86,395,941 (GRCm39) |
R801H |
probably benign |
Het |
| Flywch1 |
G |
T |
17: 23,975,682 (GRCm39) |
T520N |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,001,207 (GRCm39) |
S190P |
unknown |
Het |
| Gabra1 |
G |
T |
11: 42,066,831 (GRCm39) |
Q28K |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,615,197 (GRCm39) |
M428V |
possibly damaging |
Het |
| Hars2 |
T |
A |
18: 36,923,228 (GRCm39) |
F412L |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 54,079,650 (GRCm39) |
M1K |
probably null |
Het |
| Homer1 |
T |
A |
13: 93,502,797 (GRCm39) |
S192T |
unknown |
Het |
| Itga2b |
T |
A |
11: 102,352,189 (GRCm39) |
D464V |
probably damaging |
Het |
| Ivd |
T |
A |
2: 118,708,422 (GRCm39) |
C379S |
probably damaging |
Het |
| Khdc3 |
A |
T |
9: 73,010,848 (GRCm39) |
N233Y |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,506,163 (GRCm39) |
V1935A |
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 90,981,423 (GRCm39) |
L15Q |
probably damaging |
Het |
| Megf8 |
C |
A |
7: 25,039,943 (GRCm39) |
P986Q |
probably benign |
Het |
| Morc2b |
G |
T |
17: 33,357,295 (GRCm39) |
T159K |
possibly damaging |
Het |
| Nudt5 |
A |
G |
2: 5,858,322 (GRCm39) |
|
probably null |
Het |
| Or6c211 |
G |
T |
10: 129,506,100 (GRCm39) |
A96E |
possibly damaging |
Het |
| Paqr5 |
A |
T |
9: 61,879,945 (GRCm39) |
Y116* |
probably null |
Het |
| Pcnx1 |
A |
C |
12: 82,013,830 (GRCm39) |
S623R |
|
Het |
| Polr1a |
T |
C |
6: 71,941,651 (GRCm39) |
V1053A |
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,393,667 (GRCm39) |
D1252E |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,620,246 (GRCm39) |
S189P |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,813,485 (GRCm39) |
R620W |
probably damaging |
Het |
| Rbms1 |
C |
T |
2: 60,793,083 (GRCm39) |
M9I |
probably benign |
Het |
| Ska3 |
T |
C |
14: 58,054,105 (GRCm39) |
N282D |
probably benign |
Het |
| Slc25a24 |
T |
A |
3: 109,065,878 (GRCm39) |
I245N |
possibly damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,594,506 (GRCm39) |
V281I |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,968,881 (GRCm39) |
Y958* |
probably null |
Het |
| Spata31 |
A |
G |
13: 65,070,044 (GRCm39) |
T731A |
possibly damaging |
Het |
| Spg11 |
G |
T |
2: 121,948,842 (GRCm39) |
A3D |
unknown |
Het |
| Srgap1 |
A |
G |
10: 121,691,383 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,931,946 (GRCm39) |
T2160A |
probably damaging |
Het |
| Tprg1l |
G |
C |
4: 154,244,815 (GRCm39) |
T91S |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,689,650 (GRCm39) |
V5071I |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,844,954 (GRCm39) |
N772K |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,103,283 (GRCm39) |
W159R |
probably benign |
Het |
| Vmn2r93 |
G |
A |
17: 18,546,353 (GRCm39) |
V742I |
probably benign |
Het |
| Zc3h13 |
C |
A |
14: 75,561,909 (GRCm39) |
H654N |
unknown |
Het |
| Zfp516 |
T |
C |
18: 83,005,019 (GRCm39) |
L641P |
probably benign |
Het |
| Zfp623 |
T |
C |
15: 75,819,488 (GRCm39) |
V148A |
probably damaging |
Het |
|
| Other mutations in H13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02526:H13
|
APN |
2 |
152,530,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0100:H13
|
UTSW |
2 |
152,531,783 (GRCm39) |
splice site |
probably null |
|
|
R0100:H13
|
UTSW |
2 |
152,531,783 (GRCm39) |
splice site |
probably null |
|
|
R0106:H13
|
UTSW |
2 |
152,528,176 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0178:H13
|
UTSW |
2 |
152,522,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2880:H13
|
UTSW |
2 |
152,537,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4058:H13
|
UTSW |
2 |
152,533,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4110:H13
|
UTSW |
2 |
152,523,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4397:H13
|
UTSW |
2 |
152,519,472 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5698:H13
|
UTSW |
2 |
152,530,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:H13
|
UTSW |
2 |
152,522,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7773:H13
|
UTSW |
2 |
152,537,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:H13
|
UTSW |
2 |
152,537,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8192:H13
|
UTSW |
2 |
152,511,522 (GRCm39) |
missense |
probably benign |
|
|
R8409:H13
|
UTSW |
2 |
152,531,813 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8891:H13
|
UTSW |
2 |
152,546,049 (GRCm39) |
missense |
probably benign |
|
|
R9153:H13
|
UTSW |
2 |
152,533,788 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9258:H13
|
UTSW |
2 |
152,522,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9385:H13
|
UTSW |
2 |
152,537,413 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9617:H13
|
UTSW |
2 |
152,530,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF005:H13
|
UTSW |
2 |
152,511,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:H13
|
UTSW |
2 |
152,511,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF016:H13
|
UTSW |
2 |
152,511,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF019:H13
|
UTSW |
2 |
152,511,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF023:H13
|
UTSW |
2 |
152,511,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF024:H13
|
UTSW |
2 |
152,511,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:H13
|
UTSW |
2 |
152,522,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGAAGGTCAGTGCTGCC -3'
(R):5'- AGGCATCGTTACTCTTGTCACC -3'
Sequencing Primer
(F):5'- AAGGTCAGTGCTGCCCATGTC -3'
(R):5'- GTCACCTTGTGTGCATCCG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation