Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01871:H2-Ob'

178721

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-Ob

Ensembl Gene

ENSMUSG00000041538

Gene Name

histocompatibility 2, O region beta locus

Synonyms

Ob, H-2Ob, H2-Ab, A-beta2, A-beta-2, H-2I, H2-IAb2, H2-Ab2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL01871

Quality Score

Status

Chromosome

Chromosomal Location

34238903-34245907 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34242545 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 86 (W86L)

Ref Sequence

ENSEMBL: ENSMUSP00000133906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095342] [ENSMUST00000167280] [ENSMUST00000173764]

Predicted Effect

probably damaging
Transcript: ENSMUST00000095342
AA Change: W157L

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

SMART Domains

Protein: ENSMUSP00000092985
Gene: ENSMUSG00000041538
AA Change: W157L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
MHC_II_beta	39	113	8.17e-34	SMART
IGc1	138	209	2.24e-24	SMART
transmembrane domain	225	247	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167280
AA Change: W131L

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

SMART Domains

Protein: ENSMUSP00000129657
Gene: ENSMUSG00000041538
AA Change: W131L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
MHC_II_beta	39	113	8.17e-34	SMART
IGc1	120	183	4.55e-16	SMART
transmembrane domain	199	221	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173681

Predicted Effect

probably damaging
Transcript: ENSMUST00000173764
AA Change: W86L

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

SMART Domains

Protein: ENSMUSP00000133906
Gene: ENSMUSG00000041538
AA Change: W86L

Domain	Start	End	E-Value	Type
Pfam:MHC_II_beta	1	42	8e-12	PFAM
IGc1	67	138	2.24e-24	SMART
transmembrane domain	154	176	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,472,394		probably null	Het
Aqp7	G	A	4: 41,045,321	R20*	probably null	Het
Asxl2	G	T	12: 3,502,112	V1285L	probably benign	Het
Bdp1	A	T	13: 100,066,053	S688T	probably benign	Het
Cc2d2a	A	T	5: 43,688,969	I357F	probably damaging	Het
Clasp1	A	T	1: 118,570,889	I884F	probably damaging	Het
Cpne4	T	G	9: 104,925,757	M200R	possibly damaging	Het
Cyp2d10	T	A	15: 82,403,885	D180V	probably damaging	Het
Dicer1	A	T	12: 104,704,180	V1042D	probably damaging	Het
Dlc1	G	A	8: 36,850,180	T447I	probably damaging	Het
Efl1	T	C	7: 82,763,319	M972T	possibly damaging	Het
Erbin	A	G	13: 103,834,766	S781P	probably damaging	Het
Fam46b	A	G	4: 133,486,309	I164V	possibly damaging	Het
Galnt4	G	A	10: 99,109,241	G276D	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gmppa	A	G	1: 75,437,017	I41V	probably damaging	Het
Golga1	C	T	2: 39,050,198		probably benign	Het
Hnrnpr	G	A	4: 136,339,574	R482H	unknown	Het
L2hgdh	T	C	12: 69,722,095	E81G	probably damaging	Het
Mre11a	T	C	9: 14,811,897	V389A	possibly damaging	Het
Mxra8	A	G	4: 155,842,801	T372A	probably benign	Het
Ncapg	T	A	5: 45,688,581	S593R	probably benign	Het
Ndufaf1	C	T	2: 119,658,287	W250*	probably null	Het
Neb	T	C	2: 52,153,069	E6783G	probably damaging	Het
Nmt2	T	C	2: 3,312,674	Y175H	probably damaging	Het
Olfml2b	T	C	1: 170,662,355		probably benign	Het
Pitpnm3	T	A	11: 72,056,138	M812L	probably damaging	Het
Pou2f3	A	G	9: 43,134,473		probably benign	Het
Prkdc	A	G	16: 15,783,087	T2871A	probably benign	Het
Rapgef4	A	G	2: 72,198,360	T392A	possibly damaging	Het
Rhov	G	T	2: 119,270,738	Q71K	probably benign	Het
Slc22a15	T	C	3: 101,860,794		probably benign	Het
Spaca1	T	A	4: 34,040,894	N22Y	probably damaging	Het
Stmnd1	A	G	13: 46,289,713	E107G	probably damaging	Het
Timm22	T	C	11: 76,407,437	V78A	probably damaging	Het
Usp47	T	C	7: 112,077,786		probably benign	Het
Utp4	A	C	8: 106,912,317	K419T	probably benign	Het
Zfp410	T	C	12: 84,325,791		probably null	Het

Other mutations in H2-Ob

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03247:H2-Ob	APN	17	34243492	missense	probably benign
Deciduous	UTSW	17	34243886	critical splice acceptor site	probably null
K3955:H2-Ob	UTSW	17	34241184	missense	probably damaging	1.00
R0466:H2-Ob	UTSW	17	34242659	missense	probably damaging	0.99
R0791:H2-Ob	UTSW	17	34242614	missense	probably damaging	1.00
R0792:H2-Ob	UTSW	17	34242614	missense	probably damaging	1.00
R0812:H2-Ob	UTSW	17	34244126	utr 3 prime	probably benign
R2145:H2-Ob	UTSW	17	34242580	missense	probably benign	0.00
R4677:H2-Ob	UTSW	17	34242644	missense	probably benign	0.01
R4741:H2-Ob	UTSW	17	34242571	missense	possibly damaging	0.73
R5011:H2-Ob	UTSW	17	34241279	critical splice donor site	probably null
R5084:H2-Ob	UTSW	17	34241128	missense	probably damaging	1.00
R5135:H2-Ob	UTSW	17	34243516	missense	probably benign	0.20
R5497:H2-Ob	UTSW	17	34241170	missense	probably benign	0.42
R6034:H2-Ob	UTSW	17	34241218	missense	probably damaging	1.00
R6034:H2-Ob	UTSW	17	34241218	missense	probably damaging	1.00
R6272:H2-Ob	UTSW	17	34242644	missense	probably benign	0.01
R6433:H2-Ob	UTSW	17	34243886	critical splice acceptor site	probably null
R6794:H2-Ob	UTSW	17	34241188	missense	possibly damaging	0.96
R7220:H2-Ob	UTSW	17	34241260	missense	probably damaging	1.00

Posted On

2014-05-07