Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:H13'

17854

Institutional Source

Beutler Lab

Gene Symbol

H13

Ensembl Gene

ENSMUSG00000019188

Gene Name

histocompatibility 13

Synonyms

H-13, Hm13, 1200006O09Rik, 4930443L17Rik, 5031424B04Rik, Spp

MMRRC Submission

038392-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

152511381-152550590 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152528176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 175 (K175R)

Ref Sequence

ENSEMBL: ENSMUSP00000105450 (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 benign
Transcript: ENSMUST00000089059

SMART Domains

Protein: ENSMUSP00000086460
Gene: ENSMUSG00000019188

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
AA Change: K175R

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105450
Gene: ENSMUSG00000019188
AA Change: K175R

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 benign
Transcript: ENSMUST00000125366

SMART Domains

Protein: ENSMUSP00000120068
Gene: ENSMUSG00000019188

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

0.0898

Coding Region Coverage

1x: 87.6%
3x: 83.1%
10x: 68.0%
20x: 43.0%

Validation Efficiency

97% (89/92)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	A	T	11: 43,478,200 (GRCm39)		probably benign	Het
A730018C14Rik	A	T	12: 112,381,628 (GRCm39)		noncoding transcript	Het
Abca5	A	T	11: 110,210,651 (GRCm39)	L176Q	probably damaging	Het
Aspm	C	A	1: 139,404,614 (GRCm39)	Q1315K	probably benign	Het
Bpifb4	A	G	2: 153,782,888 (GRCm39)	D31G	probably benign	Het
Brf1	A	G	12: 112,937,083 (GRCm39)		probably benign	Het
Card19	A	C	13: 49,361,621 (GRCm39)	D3E	probably benign	Het
Chd6	A	G	2: 160,809,822 (GRCm39)	F1480L	probably damaging	Het
Cldn25	A	G	9: 48,958,933 (GRCm39)		noncoding transcript	Het
Col11a2	A	G	17: 34,276,249 (GRCm39)	N799D	probably damaging	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Cyp2g1	T	A	7: 26,513,607 (GRCm39)	I182N	probably damaging	Het
Dntt	A	T	19: 41,044,185 (GRCm39)		probably benign	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Dysf	C	A	6: 84,090,318 (GRCm39)	F956L	probably benign	Het
Ephb6	T	C	6: 41,596,528 (GRCm39)		probably benign	Het
Firrm	T	C	1: 163,810,380 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,368,858 (GRCm39)	R234Q	probably benign	Het
Gda	T	C	19: 21,374,920 (GRCm39)	D332G	probably benign	Het
Ggt7	C	T	2: 155,336,813 (GRCm39)	A560T	possibly damaging	Het
Glis3	A	T	19: 28,509,268 (GRCm39)	S239T	possibly damaging	Het
Glyctk	G	A	9: 106,033,168 (GRCm39)	P124L	probably benign	Het
Gm10845	T	A	14: 80,100,644 (GRCm39)		noncoding transcript	Het
Igsf6	T	A	7: 120,673,677 (GRCm39)	I18F	probably benign	Het
Immt	A	G	6: 71,828,828 (GRCm39)	S128G	probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kif13a	G	T	13: 46,978,823 (GRCm39)		probably benign	Het
L2hgdh	A	T	12: 69,752,563 (GRCm39)	Y239*	probably null	Het
Lamp1	A	G	8: 13,224,550 (GRCm39)	T405A	probably damaging	Het
Lpin1	A	T	12: 16,590,980 (GRCm39)	N817K	possibly damaging	Het
Macf1	G	A	4: 123,302,357 (GRCm39)	T715I	probably benign	Het
Mapk12	T	C	15: 89,017,187 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,763,480 (GRCm39)	N205K	probably damaging	Het
Nat10	A	G	2: 103,587,550 (GRCm39)	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,524,529 (GRCm39)	E317G	possibly damaging	Het
Nolc1	T	A	19: 46,068,528 (GRCm39)		probably benign	Het
Nomo1	T	C	7: 45,687,056 (GRCm39)	I72T	probably damaging	Het
Or5b98	A	G	19: 12,931,720 (GRCm39)	I256V	probably benign	Het
Pappa2	C	T	1: 158,542,547 (GRCm39)	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 99,899,580 (GRCm39)	M65V	probably benign	Het
Pnisr	T	C	4: 21,874,617 (GRCm39)		probably benign	Het
Prss34	A	T	17: 25,517,700 (GRCm39)	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,818,338 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pygb	A	G	2: 150,648,123 (GRCm39)	D119G	probably benign	Het
Racgap1	T	C	15: 99,540,839 (GRCm39)	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,326,570 (GRCm39)	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,802 (GRCm39)	V705L	probably benign	Het
Rgs1	C	T	1: 144,124,287 (GRCm39)	V50M	probably benign	Het
Rgs12	C	T	5: 35,124,008 (GRCm39)	T597I	probably benign	Het
Ros1	T	C	10: 52,018,363 (GRCm39)	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,450,182 (GRCm39)	R58G	probably damaging	Het
Slc6a7	A	G	18: 61,135,295 (GRCm39)	V411A	probably benign	Het
Slco1a6	A	T	6: 142,103,116 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,955,020 (GRCm39)	D1077E	probably damaging	Het
Srek1	G	A	13: 103,880,131 (GRCm39)	H476Y	unknown	Het
Strn3	A	G	12: 51,668,571 (GRCm39)	V673A	probably benign	Het
Tepsin	T	C	11: 119,982,637 (GRCm39)		probably null	Het
Tmem131l	C	T	3: 83,842,122 (GRCm39)		probably benign	Het
Tmem132c	T	C	5: 127,631,733 (GRCm39)	V664A	possibly damaging	Het
Tmprss15	T	C	16: 78,800,277 (GRCm39)	D602G	probably damaging	Het
Trbv15	T	C	6: 41,118,199 (GRCm39)		probably benign	Het
Trpm4	A	G	7: 44,968,664 (GRCm39)		probably null	Het
Wdr70	A	T	15: 8,049,068 (GRCm39)		probably null	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
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

Posted On

2013-03-25