Incidental Mutation 'R7773:H13'
ID 598688
Institutional Source Beutler Lab
Gene Symbol H13
Ensembl Gene ENSMUSG00000019188
Gene Name histocompatibility 13
Synonyms H-13, Hm13, 1200006O09Rik, 4930443L17Rik, 5031424B04Rik, Spp
MMRRC Submission 045829-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7773 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 152511381-152550590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152537431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 292 (Y292C)
Ref Sequence ENSEMBL: ENSMUSP00000086460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079247] [ENSMUST00000089059] [ENSMUST00000125366]
AlphaFold Q9D8V0
PDB Structure Structure of Minor Histocompatibility Antigen peptide, H13a, complexed to H2-Db [X-RAY DIFFRACTION]
Structure of Minor Histocompatibility Antigen peptide, H13b, complexed to H2-Db [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079247
AA Change: Y250C

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000078236
Gene: ENSMUSG00000019188
AA Change: Y250C

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
PSN 66 295 1.74e-76 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000089059
AA Change: Y292C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086460
Gene: ENSMUSG00000019188
AA Change: Y292C

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
PSN 66 337 1.56e-119 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125366
AA Change: Y292C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120068
Gene: ENSMUSG00000019188
AA Change: Y292C

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
PSN 66 337 1.56e-119 SMART
low complexity region 355 371 N/A INTRINSIC
Meta Mutation Damage Score 0.2727 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,206,180 (GRCm39) I336T probably benign Het
4930519P11Rik T C 2: 154,455,107 (GRCm39) Y84C unknown Het
4930568D16Rik C T 2: 35,244,606 (GRCm39) G249S probably damaging Het
AAdacl4fm3 A T 4: 144,430,047 (GRCm39) L314Q probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agbl1 T A 7: 76,348,585 (GRCm39) V894E unknown Het
Amigo3 T C 9: 107,931,867 (GRCm39) L430P probably benign Het
Aoc1 A G 6: 48,883,146 (GRCm39) I341V probably benign Het
Bod1l A G 5: 41,990,055 (GRCm39) S223P probably benign Het
Cacnb3 T C 15: 98,537,819 (GRCm39) probably null Het
Ccdc63 G T 5: 122,247,335 (GRCm39) N503K probably damaging Het
Ccdc83 T A 7: 89,879,120 (GRCm39) I225F probably damaging Het
Cd200r1 A G 16: 44,610,050 (GRCm39) T90A possibly damaging Het
Cd8a A G 6: 71,350,799 (GRCm39) N88S probably benign Het
Cep170 A G 1: 176,567,642 (GRCm39) V152A Het
Chid1 T C 7: 141,109,518 (GRCm39) M123V probably benign Het
Cnnm4 T C 1: 36,538,603 (GRCm39) V595A probably benign Het
Coro7 A G 16: 4,449,870 (GRCm39) L630P probably damaging Het
Cpvl A G 6: 53,908,890 (GRCm39) probably null Het
Edem3 A T 1: 151,687,347 (GRCm39) K762* probably null Het
Elp6 T A 9: 110,141,627 (GRCm39) probably null Het
Emilin3 A T 2: 160,752,718 (GRCm39) Y77* probably null Het
Fam234b T A 6: 135,220,912 (GRCm39) I641N probably benign Het
Farsa T C 8: 85,590,781 (GRCm39) probably null Het
Foxf2 T C 13: 31,811,182 (GRCm39) S374P probably benign Het
Gm11596 A T 11: 99,683,667 (GRCm39) I151N unknown Het
Gm9817 C T 13: 45,232,427 (GRCm39) Q77* probably null Het
Gon4l A G 3: 88,803,102 (GRCm39) K1238E probably benign Het
Hip1r A G 5: 124,139,504 (GRCm39) N928S probably benign Het
Iqcf4 T C 9: 106,445,812 (GRCm39) N112D probably benign Het
Jak3 A C 8: 72,131,686 (GRCm39) T125P probably benign Het
Krt7 A C 15: 101,311,913 (GRCm39) K124Q possibly damaging Het
Ldc1 T C 4: 130,114,169 (GRCm39) N83D probably damaging Het
Lrrc66 G A 5: 73,764,664 (GRCm39) S793F probably damaging Het
Mycbp2 C T 14: 103,485,840 (GRCm39) V1074I probably damaging Het
Nckap5 T C 1: 125,954,581 (GRCm39) D657G probably benign Het
Nt5el A G 13: 105,218,793 (GRCm39) I42M probably damaging Het
Or5b113 T A 19: 13,342,598 (GRCm39) V202E probably benign Het
Or8k21 T C 2: 86,145,034 (GRCm39) I199V probably benign Het
Osbpl7 A G 11: 96,941,548 (GRCm39) S24G probably benign Het
Pcm1 G T 8: 41,762,610 (GRCm39) E1385* probably null Het
Poc5 A G 13: 96,547,143 (GRCm39) T469A probably damaging Het
Ppp3ca A G 3: 136,596,222 (GRCm39) T296A probably benign Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rnf149 A C 1: 39,604,299 (GRCm39) M188R possibly damaging Het
Rpl10l T C 12: 66,331,041 (GRCm39) I31V probably benign Het
Serinc5 T C 13: 92,797,592 (GRCm39) S32P probably damaging Het
Sirt1 T A 10: 63,162,562 (GRCm39) K137M possibly damaging Het
Smc4 A G 3: 68,923,496 (GRCm39) Y251C probably damaging Het
Sod3 A C 5: 52,525,643 (GRCm39) E114A possibly damaging Het
Tgfbr3 A G 5: 107,288,368 (GRCm39) V431A probably benign Het
Tlr4 T C 4: 66,757,836 (GRCm39) S210P probably damaging Het
Trub2 G T 2: 29,676,520 (GRCm39) T70N probably benign Het
Tsga10 A T 1: 37,874,323 (GRCm39) C159S unknown Het
Vmn1r15 A T 6: 57,235,644 (GRCm39) I171F probably benign Het
Vmn2r50 T A 7: 9,771,562 (GRCm39) H713L possibly damaging Het
Zcchc14 T C 8: 122,378,514 (GRCm39) S43G unknown Het
Zfp638 T C 6: 83,956,196 (GRCm39) I1601T probably damaging Het
Other mutations in H13
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TACAGAGAAACCCTGGCTCG -3'
(R):5'- ACCGGGATTGTCTTTGCTGC -3'

Sequencing Primer
(F):5'- CCCGTCTTTTTGCAAAGGTATAAAC -3'
(R):5'- GGATTGTCTTTGCTGCCACCAC -3'
Posted On 2019-11-26