Mutagenetix > Incidental Mutations

Incidental Mutation 'RF024:H13'

604039

Institutional Source

Beutler Lab

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 #

RF024 (G1)

Quality Score

121.008

Status

Validated

Chromosome

Chromosomal Location

152669461-152708670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 152669669 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 30 (E30K)

Ref Sequence

ENSEMBL: ENSMUSP00000086460 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000079247
AA Change: E30K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078236
Gene: ENSMUSG00000019188
AA Change: E30K

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: E30K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086460
Gene: ENSMUSG00000019188
AA Change: E30K

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
PSN	66	337	1.56e-119	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109825
AA Change: E30K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105450
Gene: ENSMUSG00000019188
AA Change: E30K

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: E30K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120068
Gene: ENSMUSG00000019188
AA Change: E30K

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

Meta Mutation Damage Score

0.4113

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	T	4: 53,049,125	T1651N	probably damaging	Het
Abca17	T	TACCTG	17: 24,287,732		probably null	Het
Adgra3	A	T	5: 50,013,387		probably null	Het
Ank1	T	A	8: 23,119,344	F1380I	probably benign	Het
Apcs	A	T	1: 172,894,242	M179K	probably damaging	Het
Asb7	C	T	7: 66,647,883	R287Q	probably damaging	Het
Begain	G	GCCGCCT	12: 109,033,437		probably null	Het
Cacna2d1	A	G	5: 16,025,776	T69A	possibly damaging	Het
Ccdc170	CCA	CCAACA	10: 4,561,024		probably benign	Het
Ccdc69	A	G	11: 55,060,523	L24P	probably damaging	Het
Cdh16	T	G	8: 104,617,052	N604T	probably damaging	Het
Crybg1	A	G	10: 44,004,745	V149A	probably benign	Het
Cyb5r4	ACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA	9: 87,040,435		probably benign	Het
Dnmt1	CAGTTCCTACCTCGTT	CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT	9: 20,910,130		probably null	Het
Dnmt1	ACCTCGTT	ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT	9: 20,910,138		probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,874,762		probably benign	Het
Enah	GTGGCGGC	G	1: 181,921,934		probably null	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Epha2	CCCCC	CCCCCC	4: 141,323,406		unknown	Het
Fam114a2	T	C	11: 57,493,033	T359A	probably benign	Het
Farp1	A	G	14: 121,237,148	I258V	probably damaging	Het
Fbxw28	G	T	9: 109,338,526	Y54*	probably null	Het
Gabre	CAGGCTCA	C	X: 72,270,177		probably null	Het
Gm17660	A	C	5: 104,074,859		probably null	Het
Gprc5d	A	T	6: 135,116,519	L130Q	probably damaging	Het
Herc2	C	T	7: 56,226,525	R4429C	probably damaging	Het
Kif21b	A	T	1: 136,158,341	T817S	probably damaging	Het
Kl	A	C	5: 150,953,420	Y235S	probably benign	Het
Klk5	T	A	7: 43,842,374	V20D	possibly damaging	Het
Krtap28-10	TCCCACA	TCCCACACCCACA	1: 83,042,123		probably benign	Het
Krtap28-10	CAC	CACGACAGCCACAGCAAC	1: 83,042,252		probably benign	Het
Lamc2	T	A	1: 153,152,055	T208S	possibly damaging	Het
Map1a	GCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA	2: 121,306,307		probably benign	Het
Map3k5	A	T	10: 20,100,172	N804I	probably damaging	Het
Map6d1	G	A	16: 20,241,000	T105I	probably benign	Het
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,573		probably benign	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,273,610		probably benign	Het
Mkl1	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	15: 81,018,255		probably benign	Het
Mrgprx1	A	AGAC	7: 48,021,511		probably benign	Het
Mroh2a	C	A	1: 88,242,485	L710M	probably damaging	Het
Msmb	A	G	14: 32,158,090	D79G	probably damaging	Het
Nab2	A	T	10: 127,664,364	D286E	probably benign	Het
Nrxn1	G	A	17: 90,362,876	R1144C	probably damaging	Het
Otog	A	T	7: 46,287,669	T1601S	probably damaging	Het
Pan2	G	A	10: 128,315,535	E842K	probably benign	Het
Pcca	C	T	14: 122,684,898	T357I	probably damaging	Het
Pcnx	C	T	12: 81,917,727	P223S	probably damaging	Het
Prop1	A	C	11: 50,951,130	Y150D	possibly damaging	Het
Prss56	T	C	1: 87,187,170	L465P	probably benign	Het
Psip1	T	C	4: 83,460,498	I353M	probably damaging	Het
Rapgef3	A	C	15: 97,760,740	H170Q	probably benign	Het
Rasal2	A	T	1: 157,147,790	S1150T	probably damaging	Het
Rtbdn	C	CAGCGGA	8: 84,956,179		probably benign	Het
Sap30bp	T	A	11: 115,960,507	I135N	probably damaging	Het
Sbp	ATG	ATGCTGACAACAAAGCTG	17: 23,945,387		probably benign	Het
Slc35e4	A	T	11: 3,907,960	L215Q	possibly damaging	Het
Slc6a20b	A	T	9: 123,598,342		probably benign	Het
Smarca2	CAGC	CAGCCCAAGC	19: 26,631,020		probably benign	Het
Surf4	A	T	2: 26,922,167	I183N	probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,835,738		probably benign	Het
Timm23	T	A	14: 32,180,555	*210C	probably null	Het
Tnfaip8	ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,831		probably benign	Het
Trim66	A	T	7: 109,460,740	L813Q	possibly damaging	Het
Trip10	G	A	17: 57,255,045	A224T	probably benign	Het
Ttn	T	C	2: 76,907,599	T4245A	unknown	Het
Ttn	T	A	2: 76,908,025	I4103F	unknown	Het
Ubn2	T	A	6: 38,463,628	M313K	probably damaging	Het
Ubr5	T	C	15: 38,028,652	N521S		Het
Utp20	A	T	10: 88,825,457	D29E	probably damaging	Het
Vmn2r60	T	A	7: 42,140,939	V450E	probably benign	Het
Wdr66	GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,883		probably benign	Het
Wdr66	GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,888		probably benign	Het
Wdr66	GAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,889		probably benign	Het
Wnt6	A	T	1: 74,782,821	D187V	probably damaging	Het
Zc3h14	T	C	12: 98,758,861	C261R	probably damaging	Het
Zfp384	GCCCAGGC	GCCCAGGCCCAGCCCCAGGC	6: 125,036,489		probably benign	Het
Zfp395	C	T	14: 65,385,425	S3F	unknown	Het
Zfp583	T	A	7: 6,316,982	I344F	probably damaging	Het
Zfp599	A	C	9: 22,253,884	V65G	probably benign	Het
Zfp808	T	C	13: 62,171,299	V114A	probably benign	Het
Zfp933	G	A	4: 147,826,441	H233Y	probably damaging	Het
Znrd1as	CACCACCACCACCAC	CACCACCACCACCACCACCACTACCACCACCACCAC	17: 36,965,057		probably benign	Het

Other mutations in H13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02526:H13	APN	2	152688682	missense	probably damaging	0.98
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
X0019:H13	UTSW	2	152681070	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTAGGGGAACGTGGCTTTCC -3'
(R):5'- GGAAAGGGTGATCCATACCC -3'

Sequencing Primer
(F):5'- TGGCTTTCCCCGCAGTG -3'
(R):5'- TGATCCATACCCGGGTGG -3'

Posted On

2019-12-04