Incidental Mutation 'R0100:H13'
ID |
212472 |
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 |
21 |
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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (56/56) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
Bbof1 |
T |
A |
12: 84,457,829 (GRCm39) |
D31E |
probably benign |
Het |
Ccdc51 |
C |
T |
9: 108,921,066 (GRCm39) |
Q318* |
probably null |
Het |
Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
Dbr1 |
T |
A |
9: 99,465,722 (GRCm39) |
D433E |
probably benign |
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 |
Fam81a |
C |
T |
9: 70,010,091 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
Fbxo47 |
C |
T |
11: 97,759,432 (GRCm39) |
G165S |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
Gpatch2 |
C |
A |
1: 186,958,014 (GRCm39) |
A123E |
probably 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 |
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 |
Mocs3 |
C |
T |
2: 168,073,110 (GRCm39) |
R186C |
probably damaging |
Het |
Or10al5 |
T |
C |
17: 38,063,594 (GRCm39) |
F283S |
probably benign |
Het |
Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
Or4c120 |
T |
A |
2: 89,001,431 (GRCm39) |
I42F |
probably benign |
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 |
Plekhs1 |
A |
G |
19: 56,466,934 (GRCm39) |
E255G |
probably damaging |
Het |
Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
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 |
Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
Usp28 |
C |
A |
9: 48,947,232 (GRCm39) |
P566Q |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGTGGGATGGAAGCCTGACCAG -3'
(R):5'- GCCCTGTAACACTGAGTAATAAGCACC -3'
Sequencing Primer
(F):5'- TTTTGCCCAGAACCACATGAAG -3'
(R):5'- TGAGTAATAAGCACCTCTCCTGG -3'
|
Posted On |
2014-07-03 |