Incidental Mutation 'R0178:H13'
ID |
23752 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H13
|
Ensembl Gene |
ENSMUSG00000019188 |
Gene Name |
histocompatibility 13 |
Synonyms |
H-13, Hm13, 1200006O09Rik, 4930443L17Rik, 5031424B04Rik, Spp |
MMRRC Submission |
038446-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0178 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
2 |
Chromosomal Location |
152511381-152550590 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152522987 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 100
(Y100C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079247]
[ENSMUST00000089059]
[ENSMUST00000109825]
[ENSMUST00000125366]
|
AlphaFold |
Q9D8V0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079247
AA Change: Y100C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078236 Gene: ENSMUSG00000019188 AA Change: Y100C
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: Y100C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086460 Gene: ENSMUSG00000019188 AA Change: Y100C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
PSN
|
66 |
337 |
1.56e-119 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109825
AA Change: Y100C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105450 Gene: ENSMUSG00000019188 AA Change: Y100C
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: Y100C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120068 Gene: ENSMUSG00000019188 AA Change: Y100C
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: ENSMUST00000148156
|
Meta Mutation Damage Score |
0.9050 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 88.8%
|
Validation Efficiency |
95% (69/73) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
T |
G |
14: 35,533,435 (GRCm39) |
N111T |
probably benign |
Het |
Abca1 |
T |
C |
4: 53,081,953 (GRCm39) |
D769G |
possibly damaging |
Het |
Adcy6 |
G |
T |
15: 98,502,096 (GRCm39) |
Q173K |
probably benign |
Het |
Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
Arfgap2 |
C |
T |
2: 91,097,706 (GRCm39) |
A141V |
probably benign |
Het |
Asb2 |
G |
A |
12: 103,291,811 (GRCm39) |
P324L |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,732,188 (GRCm39) |
S342P |
probably damaging |
Het |
Cacna1g |
G |
A |
11: 94,354,309 (GRCm39) |
T202I |
probably damaging |
Het |
Capn5 |
A |
G |
7: 97,782,098 (GRCm39) |
L214P |
probably damaging |
Het |
Cdh20 |
A |
T |
1: 104,902,776 (GRCm39) |
D489V |
possibly damaging |
Het |
Cers5 |
C |
A |
15: 99,644,905 (GRCm39) |
|
probably benign |
Het |
Chct1 |
A |
G |
11: 85,069,264 (GRCm39) |
H94R |
probably benign |
Het |
Chrnb3 |
T |
A |
8: 27,883,392 (GRCm39) |
V111D |
probably damaging |
Het |
Clec2m |
T |
C |
6: 129,303,786 (GRCm39) |
R60G |
probably benign |
Het |
Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
Cyp2r1 |
T |
C |
7: 114,149,643 (GRCm39) |
E248G |
probably damaging |
Het |
Dnaaf11 |
A |
C |
15: 66,325,950 (GRCm39) |
D208E |
probably benign |
Het |
Dnmt3b |
A |
G |
2: 153,516,938 (GRCm39) |
T536A |
probably benign |
Het |
Eef2 |
G |
A |
10: 81,016,126 (GRCm39) |
V496M |
possibly damaging |
Het |
Fam118a |
T |
C |
15: 84,930,081 (GRCm39) |
|
probably benign |
Het |
Fer1l6 |
T |
A |
15: 58,509,763 (GRCm39) |
|
probably null |
Het |
Fhad1 |
A |
C |
4: 141,682,651 (GRCm39) |
F497V |
probably benign |
Het |
Gbe1 |
G |
A |
16: 70,275,274 (GRCm39) |
G358D |
probably damaging |
Het |
Gdf10 |
A |
G |
14: 33,646,058 (GRCm39) |
D69G |
probably damaging |
Het |
Ggt6 |
A |
G |
11: 72,327,644 (GRCm39) |
H150R |
possibly damaging |
Het |
Gm45713 |
A |
T |
7: 44,783,882 (GRCm39) |
L110Q |
probably damaging |
Het |
Gm9847 |
T |
C |
12: 14,544,649 (GRCm39) |
|
noncoding transcript |
Het |
Grwd1 |
T |
C |
7: 45,480,054 (GRCm39) |
E51G |
probably damaging |
Het |
Gvin3 |
A |
T |
7: 106,201,028 (GRCm39) |
Y739N |
probably damaging |
Het |
Kcne1 |
A |
C |
16: 92,145,697 (GRCm39) |
M49R |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,888,886 (GRCm39) |
|
probably benign |
Het |
Krt40 |
T |
C |
11: 99,432,565 (GRCm39) |
I150M |
probably damaging |
Het |
Ldb2 |
A |
T |
5: 44,630,841 (GRCm39) |
V300E |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,615,919 (GRCm39) |
C3606S |
probably damaging |
Het |
Lrrc42 |
A |
G |
4: 107,104,917 (GRCm39) |
I16T |
probably damaging |
Het |
Mtus1 |
G |
T |
8: 41,455,398 (GRCm39) |
L87I |
possibly damaging |
Het |
Myot |
T |
C |
18: 44,470,053 (GRCm39) |
F10S |
probably damaging |
Het |
Nrg3 |
A |
T |
14: 38,098,413 (GRCm39) |
H480Q |
probably damaging |
Het |
Or52b2 |
G |
A |
7: 104,986,129 (GRCm39) |
R265C |
probably benign |
Het |
Or5ac23 |
A |
T |
16: 59,149,783 (GRCm39) |
F30I |
probably damaging |
Het |
Prl2c5 |
A |
T |
13: 13,366,390 (GRCm39) |
D220V |
probably damaging |
Het |
Rbm17 |
G |
A |
2: 11,592,590 (GRCm39) |
S295L |
probably benign |
Het |
Serpina6 |
A |
G |
12: 103,613,172 (GRCm39) |
I376T |
probably damaging |
Het |
Sh2d2a |
A |
T |
3: 87,756,730 (GRCm39) |
T192S |
probably benign |
Het |
Slc27a1 |
T |
C |
8: 72,037,106 (GRCm39) |
Y417H |
possibly damaging |
Het |
Slc6a1 |
T |
G |
6: 114,281,813 (GRCm39) |
I32S |
possibly damaging |
Het |
Sntb1 |
T |
C |
15: 55,769,540 (GRCm39) |
T150A |
probably damaging |
Het |
Tanc1 |
T |
A |
2: 59,665,791 (GRCm39) |
C1183* |
probably null |
Het |
Tmprss7 |
C |
A |
16: 45,511,206 (GRCm39) |
W57C |
probably damaging |
Het |
Ubac1 |
A |
T |
2: 25,911,440 (GRCm39) |
V36E |
possibly damaging |
Het |
Zfc3h1 |
T |
C |
10: 115,242,630 (GRCm39) |
|
probably benign |
Het |
Zfp644 |
C |
T |
5: 106,784,771 (GRCm39) |
C592Y |
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 |
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'- GCAACTGCCAACTGAGACACTAGG -3'
(R):5'- CCACCATACATAGCCTTGTACGTCC -3'
Sequencing Primer
(F):5'- ATCTAGACACCTTTTCCGGTAGAG -3'
(R):5'- GGATTTTACagccaggatttaaacc -3'
|
Posted On |
2013-04-16 |