Incidental Mutation 'R5698:H13'
ID |
450771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H13
|
Ensembl Gene |
ENSMUSG00000019188 |
Gene Name |
histocompatibility 13 |
Synonyms |
H-13, Hm13, 1200006O09Rik, 4930443L17Rik, 5031424B04Rik, Spp |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5698 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
152511381-152550590 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 152530875 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 220
(I220N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120068
(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 damaging
Transcript: ENSMUST00000089059
AA Change: I220N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000086460 Gene: ENSMUSG00000019188 AA Change: I220N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
PSN
|
66 |
337 |
1.56e-119 |
SMART |
|
Predicted Effect |
probably benign
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: I220N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120068 Gene: ENSMUSG00000019188 AA Change: I220N
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
A |
G |
11: 3,926,366 (GRCm39) |
K334E |
possibly damaging |
Het |
Ache |
G |
A |
5: 137,288,821 (GRCm39) |
V176M |
probably damaging |
Het |
Acss3 |
T |
C |
10: 106,784,605 (GRCm39) |
D539G |
probably damaging |
Het |
Adam6b |
T |
A |
12: 113,455,083 (GRCm39) |
D633E |
probably benign |
Het |
Aldh16a1 |
G |
A |
7: 44,803,831 (GRCm39) |
|
probably benign |
Het |
Amigo2 |
G |
A |
15: 97,143,607 (GRCm39) |
Q272* |
probably null |
Het |
Aoc1l1 |
A |
G |
6: 48,953,256 (GRCm39) |
T394A |
possibly damaging |
Het |
Appbp2 |
A |
T |
11: 85,100,925 (GRCm39) |
H171Q |
probably damaging |
Het |
Arhgef18 |
A |
G |
8: 3,489,499 (GRCm39) |
D277G |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,417,873 (GRCm39) |
V95A |
probably benign |
Het |
Atp6v0a4 |
C |
T |
6: 38,027,442 (GRCm39) |
|
probably null |
Het |
Atp8a1 |
A |
T |
5: 67,924,496 (GRCm39) |
N289K |
probably benign |
Het |
Cand2 |
C |
T |
6: 115,768,704 (GRCm39) |
L505F |
probably damaging |
Het |
Ccnt2 |
A |
G |
1: 127,730,965 (GRCm39) |
K614R |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,272,632 (GRCm39) |
|
probably null |
Het |
Copa |
T |
A |
1: 171,946,511 (GRCm39) |
L976* |
probably null |
Het |
Ddx39b |
T |
C |
17: 35,470,287 (GRCm39) |
V267A |
probably benign |
Het |
Dpp4 |
T |
A |
2: 62,164,655 (GRCm39) |
Q709L |
probably damaging |
Het |
Eno4 |
A |
G |
19: 58,956,904 (GRCm39) |
|
probably null |
Het |
Exoc3 |
A |
G |
13: 74,322,134 (GRCm39) |
L647P |
probably benign |
Het |
Eya4 |
T |
C |
10: 23,015,975 (GRCm39) |
S308G |
possibly damaging |
Het |
Fbxo41 |
T |
C |
6: 85,454,638 (GRCm39) |
T693A |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,791,447 (GRCm39) |
T903A |
possibly damaging |
Het |
Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,559,926 (GRCm39) |
I1527T |
possibly damaging |
Het |
Has2 |
T |
C |
15: 56,531,312 (GRCm39) |
R468G |
probably damaging |
Het |
Ighmbp2 |
A |
G |
19: 3,324,538 (GRCm39) |
S243P |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,266,455 (GRCm39) |
H587R |
probably benign |
Het |
Kcnk1 |
C |
T |
8: 126,752,144 (GRCm39) |
T250M |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,339,532 (GRCm39) |
V458A |
probably benign |
Het |
Krt14 |
T |
C |
11: 100,096,451 (GRCm39) |
T208A |
probably benign |
Het |
Mybpc3 |
C |
A |
2: 90,955,194 (GRCm39) |
H349Q |
possibly damaging |
Het |
Neurl3 |
T |
A |
1: 36,305,587 (GRCm39) |
T207S |
possibly damaging |
Het |
Nol9 |
T |
C |
4: 152,135,031 (GRCm39) |
V388A |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,376,961 (GRCm39) |
N315D |
probably damaging |
Het |
Oas1h |
G |
T |
5: 121,009,045 (GRCm39) |
A252S |
probably damaging |
Het |
Or13c7b |
C |
A |
4: 43,821,183 (GRCm39) |
M59I |
probably damaging |
Het |
Pcbp1 |
G |
A |
6: 86,502,134 (GRCm39) |
T255M |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,083,808 (GRCm39) |
V18A |
probably benign |
Het |
Ppp1r17 |
A |
T |
6: 56,003,529 (GRCm39) |
E114V |
probably damaging |
Het |
Scamp5 |
A |
T |
9: 57,352,716 (GRCm39) |
M151K |
possibly damaging |
Het |
Sestd1 |
T |
C |
2: 77,048,512 (GRCm39) |
Y135C |
possibly damaging |
Het |
Slc22a21 |
T |
G |
11: 53,842,175 (GRCm39) |
K534N |
probably benign |
Het |
Slc25a12 |
T |
C |
2: 71,112,917 (GRCm39) |
E448G |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,996,566 (GRCm39) |
L280P |
probably damaging |
Het |
Sppl2b |
C |
A |
10: 80,701,879 (GRCm39) |
|
probably null |
Het |
Srd5a2 |
T |
C |
17: 74,334,014 (GRCm39) |
E135G |
possibly damaging |
Het |
Tfg |
A |
T |
16: 56,521,467 (GRCm39) |
M183K |
probably damaging |
Het |
Ticrr |
G |
A |
7: 79,328,881 (GRCm39) |
M673I |
probably benign |
Het |
Tm4sf20 |
T |
G |
1: 82,745,958 (GRCm39) |
M61L |
probably benign |
Het |
Ttll8 |
A |
T |
15: 88,823,209 (GRCm39) |
S85T |
possibly damaging |
Het |
Uggt2 |
G |
A |
14: 119,280,138 (GRCm39) |
S780F |
probably damaging |
Het |
Uroc1 |
T |
C |
6: 90,324,302 (GRCm39) |
L442P |
probably damaging |
Het |
Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
Znrf3 |
A |
G |
11: 5,239,006 (GRCm39) |
|
probably benign |
Het |
Zswim2 |
C |
A |
2: 83,755,527 (GRCm39) |
D125Y |
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 |
|
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 |
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'- AAGGTAAGTCAGAGCCTGCG -3'
(R):5'- AAAGCACTGGGTACTCTGGG -3'
Sequencing Primer
(F):5'- TCAGAGCCTGCGCAGAAG -3'
(R):5'- CACTGGGTACTCTGGGTTCTTG -3'
|
Posted On |
2017-01-03 |