Incidental Mutation 'R0100:H13'
| ID |
17239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H13
|
| Ensembl Gene |
ENSMUSG00000019188 |
| Gene Name |
histocompatibility 13 |
| Synonyms |
H-13, Hm13, 1200006O09Rik, 4930443L17Rik, 5031424B04Rik, Spp |
| MMRRC Submission |
038386-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0100 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152511381-152550590 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3162 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 152531783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062148]
[ENSMUST00000079247]
[ENSMUST00000089059]
[ENSMUST00000109825]
[ENSMUST00000125366]
|
| AlphaFold |
Q9D8V0 |
| Predicted Effect |
probably null
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 damaging
Transcript: ENSMUST00000079247
AA Change: M187K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000078236
Gene: ENSMUSG00000019188
AA Change: M187K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
PSN
|
66 |
295 |
1.74e-76 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089059
AA Change: M229K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086460
Gene: ENSMUSG00000019188
AA Change: M229K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
PSN
|
66 |
337 |
1.56e-119 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109825
|
| SMART Domains |
Protein: ENSMUSP00000105450
Gene: ENSMUSG00000019188
| 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 damaging
Transcript: ENSMUST00000125366
AA Change: M229K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120068
Gene: ENSMUSG00000019188
AA Change: M229K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180725
|
| Meta Mutation Damage Score |
0.9544 |
| Coding Region Coverage |
- 1x: 90.3%
- 3x: 88.1%
- 10x: 82.7%
- 20x: 75.2%
|
| Validation Efficiency |
89% (68/76) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,885,538 (GRCm39) |
I681T |
possibly damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,240,542 (GRCm39) |
H793R |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,053,750 (GRCm39) |
I351V |
probably benign |
Het |
| Bbof1 |
T |
A |
12: 84,457,829 (GRCm39) |
D31E |
probably benign |
Het |
| Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
| Ddx55 |
C |
T |
5: 124,694,845 (GRCm39) |
T91I |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,585 (GRCm39) |
D340G |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,984,109 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,344,716 (GRCm39) |
S4P |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,378,141 (GRCm39) |
D119G |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
| Greb1 |
T |
A |
12: 16,730,225 (GRCm39) |
Q1734L |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,857 (GRCm39) |
L705P |
probably damaging |
Het |
| Hgs |
T |
G |
11: 120,373,678 (GRCm39) |
Y708D |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,465,307 (GRCm39) |
D367G |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,309,928 (GRCm39) |
Q1112* |
probably null |
Het |
| Il17b |
A |
G |
18: 61,823,342 (GRCm39) |
M59V |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,747,260 (GRCm39) |
Y829H |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,629,999 (GRCm39) |
N1230I |
probably damaging |
Het |
| Mindy2 |
C |
A |
9: 70,514,731 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
T |
G |
6: 91,046,175 (GRCm39) |
E586A |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,578,923 (GRCm39) |
N303I |
probably benign |
Het |
| Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 86,863,939 (GRCm39) |
T209A |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,362,372 (GRCm39) |
I405V |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,091,105 (GRCm39) |
S360P |
probably benign |
Het |
| Plekha6 |
T |
C |
1: 133,197,915 (GRCm39) |
S271P |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,466,934 (GRCm39) |
E255G |
probably damaging |
Het |
| Pram1 |
T |
A |
17: 33,860,373 (GRCm39) |
N313K |
possibly damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,685,034 (GRCm39) |
S261L |
probably benign |
Het |
| Spint5 |
T |
A |
2: 164,558,920 (GRCm39) |
C49S |
probably damaging |
Het |
| Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
Het |
| Thoc6 |
A |
T |
17: 23,888,824 (GRCm39) |
W195R |
probably damaging |
Het |
| Tmem106a |
T |
C |
11: 101,477,084 (GRCm39) |
S98P |
probably benign |
Het |
| Tnfrsf18 |
A |
G |
4: 156,112,823 (GRCm39) |
T170A |
probably benign |
Het |
| Tor1aip1 |
A |
T |
1: 155,882,821 (GRCm39) |
D342E |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,529 (GRCm39) |
S20P |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,947 (GRCm39) |
F811L |
possibly 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 |
|
|
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 |
|
|
R8362:H13
|
UTSW |
2 |
152,528,311 (GRCm39) |
missense |
unknown |
|
|
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 |
|
| Posted On |
2013-01-20 |
Incidental Mutation