Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02526:H13'

297096

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H13

Ensembl Gene

ENSMUSG00000019188

Gene Name

histocompatibility 13

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02526

Quality Score

Status

Chromosome

Chromosomal Location

152669461-152708670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152688682 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 158 (F158L)

Ref Sequence

ENSEMBL: ENSMUSP00000078236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062148] [ENSMUST00000079247] [ENSMUST00000089059] [ENSMUST00000109825] [ENSMUST00000125366]

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 damaging
Transcript: ENSMUST00000079247
AA Change: F158L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078236
Gene: ENSMUSG00000019188
AA Change: F158L

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
AA Change: F158L

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000086460
Gene: ENSMUSG00000019188
AA Change: F158L

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 benign
Transcript: ENSMUST00000125366
AA Change: F158L

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120068
Gene: ENSMUSG00000019188
AA Change: F158L

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,646,860	V231A	probably damaging	Het
Aff4	T	C	11: 53,406,682		probably benign	Het
Ano2	G	A	6: 125,872,751		probably null	Het
Aspm	A	G	1: 139,489,719	E2818G	probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Caprin1	T	C	2: 103,775,603		probably benign	Het
Clca2	T	C	3: 145,088,018	H292R	probably benign	Het
Dnah11	G	A	12: 118,179,618	T430M	possibly damaging	Het
Fgd6	A	G	10: 94,100,511	N902S	probably benign	Het
Grm3	A	G	5: 9,589,847	I66T	probably damaging	Het
Kcnb2	A	G	1: 15,710,755	E617G	probably damaging	Het
Kcnh7	T	C	2: 62,850,437	S269G	possibly damaging	Het
Krit1	T	A	5: 3,822,103	I376N	probably damaging	Het
Lonrf2	T	A	1: 38,800,710	M435L	probably benign	Het
Map2	A	T	1: 66,380,717	D69V	possibly damaging	Het
Mon1b	G	T	8: 113,638,823	R261L	possibly damaging	Het
Myh3	C	T	11: 67,087,545	P453S	probably benign	Het
Olfr557	T	A	7: 102,699,084	V282D	possibly damaging	Het
Pi4k2b	T	C	5: 52,767,739	F442L	probably damaging	Het
Pla2g12b	T	A	10: 59,416,453	C49S	probably damaging	Het
Polr2a	C	T	11: 69,739,467	R1258Q	probably benign	Het
Prmt8	A	C	6: 127,711,823	S195A	probably damaging	Het
Pwp1	T	A	10: 85,882,103		probably null	Het
Rxfp1	C	A	3: 79,670,846		probably null	Het
Skor1	A	T	9: 63,145,877	M270K	probably damaging	Het
Slc12a4	T	C	8: 105,949,806	N495D	possibly damaging	Het
Slc26a3	T	C	12: 31,457,096	V350A	probably damaging	Het
Slc44a4	T	A	17: 34,928,487	V430D	probably damaging	Het
Slit2	C	A	5: 48,304,223	C1537*	probably null	Het
Tas2r135	A	T	6: 42,406,280	H251L	probably damaging	Het
Tbr1	T	C	2: 61,811,698	F436L	probably benign	Het
Them6	A	T	15: 74,721,655	T121S	possibly damaging	Het
Tmem145	G	A	7: 25,308,232	M221I	probably benign	Het
Trrap	T	C	5: 144,824,550	V2300A	probably benign	Het
Usf3	C	A	16: 44,220,311	A1718D	possibly damaging	Het
Usp10	C	A	8: 119,948,775	S511Y	probably damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wnt9a	T	C	11: 59,328,505	F119S	probably damaging	Het
Zc3h7b	G	A	15: 81,793,137	G880S	probably benign	Het

Other mutations in H13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0100:H13	UTSW	2	152689863	splice site	probably null
R0100:H13	UTSW	2	152689863	splice site	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
R8192:H13	UTSW	2	152669602	missense	probably benign
R8362:H13	UTSW	2	152686391	missense	unknown
R8409:H13	UTSW	2	152689893	missense	possibly damaging	0.94
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 On

2015-04-16