Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:H13'

710240

Institutional Source

Beutler Lab

Gene Symbol

H13

Ensembl Gene

ENSMUSG00000019188

Gene Name

histocompatibility 13

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152511381-152550590 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152537413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 286 (N286S)

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

probably benign
Transcript: ENSMUST00000079247
AA Change: N244S

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078236
Gene: ENSMUSG00000019188
AA Change: N244S

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: N286S

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000086460
Gene: ENSMUSG00000019188
AA Change: N286S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125366
AA Change: N286S

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120068
Gene: ENSMUSG00000019188
AA Change: N286S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,207,966 (GRCm39)	I554T	possibly damaging	Het
Adamts7	C	A	9: 90,077,258 (GRCm39)	C1308*	probably null	Het
Ank2	A	G	3: 126,753,366 (GRCm39)	V305A	probably benign	Het
Apob	A	G	12: 8,056,399 (GRCm39)	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,477,887 (GRCm39)	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,322,551 (GRCm39)	Y29*	probably null	Het
Card11	C	A	5: 140,871,276 (GRCm39)	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,405,422 (GRCm39)	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,833,533 (GRCm39)	R211W	probably benign	Het
Cda	T	G	4: 138,078,598 (GRCm39)	I55L	probably benign	Het
Cdkl3	A	C	11: 51,926,779 (GRCm39)	E577D	probably benign	Het
Cel	T	C	2: 28,450,587 (GRCm39)	D146G	probably damaging	Het
Cfap251	T	C	5: 123,426,878 (GRCm39)	L919S	probably damaging	Het
Cmya5	A	G	13: 93,230,880 (GRCm39)	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,455,912 (GRCm39)	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473 (GRCm39)	Q1045*	probably null	Het
Csmd1	T	C	8: 16,034,756 (GRCm39)	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,601,069 (GRCm39)	R22C	probably benign	Het
Ddit4	A	G	10: 59,787,178 (GRCm39)	S53P	probably damaging	Het
Ddx52	G	T	11: 83,843,096 (GRCm39)	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,361,972 (GRCm39)	L3677I	probably damaging	Het
Dscam	T	C	16: 96,840,203 (GRCm39)	T135A	probably benign	Het
Espl1	T	A	15: 102,207,185 (GRCm39)	D216E	probably damaging	Het
Fsip2	T	A	2: 82,819,793 (GRCm39)	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,074,120 (GRCm39)		probably benign	Het
Fyb1	A	G	15: 6,664,297 (GRCm39)	D460G	probably benign	Het
Gm3264	T	C	14: 16,058,217 (GRCm39)	I8T	possibly damaging	Het
Gsdmc	A	T	15: 63,675,486 (GRCm39)	Y110N	possibly damaging	Het
H2ac1	A	T	13: 24,118,679 (GRCm39)	I79F	probably damaging	Het
Heatr1	A	G	13: 12,421,423 (GRCm39)	D441G	probably damaging	Het
Hps6	A	G	19: 45,994,349 (GRCm39)	D762G	probably damaging	Het
Hyou1	C	A	9: 44,292,812 (GRCm39)	Q141K	probably benign	Het
Lpin3	T	C	2: 160,738,993 (GRCm39)	I267T	probably benign	Het
Mdc1	A	G	17: 36,161,396 (GRCm39)	K770E	probably benign	Het
Mlh3	C	T	12: 85,316,144 (GRCm39)	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,694,750 (GRCm39)	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,361,015 (GRCm39)	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,781,876 (GRCm39)	G527D	probably damaging	Het
Nop9	A	G	14: 55,988,584 (GRCm39)	E342G	probably benign	Het
Ntn1	C	A	11: 68,276,013 (GRCm39)	G312C	probably damaging	Het
Opcml	T	C	9: 28,586,459 (GRCm39)	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,425 (GRCm39)	Y193S	probably damaging	Het
Or10ad1c	C	T	15: 98,085,486 (GRCm39)	S64N	probably damaging	Het
Or5p54	T	A	7: 107,554,780 (GRCm39)	*311K	probably null	Het
Pabpc4l	A	T	3: 46,401,137 (GRCm39)	V169E	probably damaging	Het
Pde3a	A	G	6: 141,437,982 (GRCm39)	D1017G	probably benign	Het
Plagl2	C	T	2: 153,074,238 (GRCm39)	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,116,377 (GRCm39)	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,431,724 (GRCm39)	V571A	possibly damaging	Het
Pnma2	A	G	14: 67,153,371 (GRCm39)		probably benign	Het
Rnf123	T	A	9: 107,929,467 (GRCm39)	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc22a23	T	C	13: 34,528,561 (GRCm39)	S74G	probably benign	Het
Slc36a4	T	C	9: 15,645,563 (GRCm39)	I330T	probably damaging	Het
Snrk	A	T	9: 121,995,463 (GRCm39)	D414V	probably benign	Het
Snrnp200	G	A	2: 127,079,978 (GRCm39)		probably null	Het
Spata31d1b	T	C	13: 59,863,403 (GRCm39)	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,032,241 (GRCm39)	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,700,356 (GRCm39)	Q858K	probably damaging	Het
Tex55	T	G	16: 38,648,407 (GRCm39)	D234A	probably benign	Het
Tial1	A	G	7: 128,044,209 (GRCm39)	C102R	unknown	Het
Ugt8a	A	T	3: 125,665,263 (GRCm39)	D411E	probably benign	Het
Usp34	A	G	11: 23,399,223 (GRCm39)	D2404G		Het
Vmn1r10	A	C	6: 57,090,833 (GRCm39)	I142L	probably benign	Het
Wdr97	A	G	15: 76,240,367 (GRCm39)	T352A		Het
Xpo7	A	T	14: 70,925,733 (GRCm39)	D435E	probably damaging	Het
Zmym1	A	G	4: 126,952,683 (GRCm39)	S33P	probably damaging	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
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
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
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'- GCTATACAGAGAAACCCTGGC -3'
(R):5'- GGGATTGTCTTTGCTGCCAC -3'

Sequencing Primer
(F):5'- CCCGTCTTTTTGCAAAGGTATAAAC -3'
(R):5'- GTCTTTGCTGCCACCACCG -3'

Posted On

2022-04-18