Incidental Mutation 'R0100:H13'
ID17239
Institutional Source Beutler Lab
Gene Symbol H13
Ensembl Gene ENSMUSG00000019188
Gene Namehistocompatibility 13
SynonymsSpp, 1200006O09Rik, H-13, 5031424B04Rik, 4930443L17Rik
MMRRC Submission 038386-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0100 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location152669461-152708670 bp(+) (GRCm38)
Type of Mutationunclassified (3162 bp from exon)
DNA Base Change (assembly) T to A at 152689863 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062148] [ENSMUST00000079247] [ENSMUST00000089059] [ENSMUST00000109825] [ENSMUST00000125366]
Predicted Effect probably null
Transcript: ENSMUST00000062148
SMART Domains Protein: ENSMUSP00000100534
Gene: ENSMUSG00000042814

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A G 7: 34,254,011 I442T possibly damaging Het
Agrn A G 4: 156,174,958 C814R probably damaging Het
Aoc1 T C 6: 48,908,604 I681T possibly damaging Het
Atp13a4 T C 16: 29,421,724 H793R probably damaging Het
Atp6v0a4 T C 6: 38,076,815 I351V probably benign Het
Bbof1 T A 12: 84,411,055 D31E probably benign Het
Cpxm2 T A 7: 132,054,871 H554L possibly damaging Het
Ddx55 C T 5: 124,556,782 T91I probably damaging Het
Dhx57 T C 17: 80,275,156 D340G possibly damaging Het
Dnah1 C T 14: 31,262,152 probably null Het
Dpp9 C T 17: 56,205,854 G118D possibly damaging Het
Etl4 T C 2: 20,339,905 S4P probably benign Het
Fat4 A C 3: 38,980,248 N2683T probably damaging Het
Gabrb2 A G 11: 42,487,314 D119G probably damaging Het
Greb1 T A 12: 16,680,224 Q1734L probably benign Het
Gtf2ird2 T C 5: 134,217,015 L705P probably damaging Het
Hgs T G 11: 120,482,852 Y708D possibly damaging Het
Hip1 T C 5: 135,436,453 D367G probably benign Het
Ift140 C T 17: 25,090,954 Q1112* probably null Het
Il17b A G 18: 61,690,271 M59V probably benign Het
Lpin3 T C 2: 160,905,340 Y829H probably damaging Het
Lrrk2 A T 15: 91,745,796 N1230I probably damaging Het
Mindy2 C A 9: 70,607,449 probably benign Het
Nup210 T G 6: 91,069,193 E586A probably benign Het
Olfr1105 T C 2: 87,033,595 T209A probably benign Het
Olfr1344 C T 7: 6,440,400 R167C probably damaging Het
Olfr346 A T 2: 36,688,911 N303I probably benign Het
Osgepl1 A G 1: 53,323,213 I405V probably damaging Het
Pdcd11 T C 19: 47,102,666 S360P probably benign Het
Plekha6 T C 1: 133,270,177 S271P probably damaging Het
Plekhs1 A G 19: 56,478,502 E255G probably damaging Het
Pram1 T A 17: 33,641,399 N313K possibly damaging Het
Rapgef5 C T 12: 117,721,299 S261L probably benign Het
Spint5 T A 2: 164,717,000 C49S probably damaging Het
Tex22 T A 12: 113,088,772 I150N probably benign Het
Thoc6 A T 17: 23,669,850 W195R probably damaging Het
Tmem106a T C 11: 101,586,258 S98P probably benign Het
Tnfrsf18 A G 4: 156,028,366 T170A probably benign Het
Tor1aip1 A T 1: 156,007,075 D342E probably damaging Het
Trav7-6 T C 14: 53,717,072 S20P probably damaging Het
Trpc6 C T 9: 8,653,034 P614S probably damaging Het
Washc5 A G 15: 59,344,098 F811L possibly damaging Het
Other mutations in H13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02526:H13 APN 2 152688682 missense probably damaging 0.98
R0100:H13 UTSW 2 152689863 unclassified probably null
R0106:H13 UTSW 2 152686256 missense probably benign 0.09
R0178:H13 UTSW 2 152681067 missense probably damaging 1.00
R2880:H13 UTSW 2 152695561 missense probably damaging 1.00
R4058:H13 UTSW 2 152691874 missense probably damaging 1.00
R4110:H13 UTSW 2 152681109 missense probably damaging 0.99
R4397:H13 UTSW 2 152677552 missense probably damaging 0.98
R5698:H13 UTSW 2 152688955 missense probably damaging 1.00
R7145:H13 UTSW 2 152681072 missense probably damaging 1.00
R7773:H13 UTSW 2 152695511 missense probably damaging 1.00
R8116:H13 UTSW 2 152695526 missense probably damaging 1.00
RF005:H13 UTSW 2 152669669 missense probably damaging 1.00
RF008:H13 UTSW 2 152669669 missense probably damaging 1.00
RF016:H13 UTSW 2 152669669 missense probably damaging 1.00
RF019:H13 UTSW 2 152669669 missense probably damaging 1.00
RF023:H13 UTSW 2 152669669 missense probably damaging 1.00
RF024:H13 UTSW 2 152669669 missense probably damaging 1.00
X0019:H13 UTSW 2 152681070 missense probably damaging 1.00
Posted On2013-01-20