Mutagenetix > Incidental Mutation

Incidental Mutation 'R0466:H2-Ob'

41663

Institutional Source

Beutler Lab

Gene Symbol

H2-Ob

Ensembl Gene

ENSMUSG00000041538

Gene Name

histocompatibility 2, O region beta locus

Synonyms

A-beta2, H-2Ob, vic1, H2-Ab2, A-beta-2, H2-IAb2, Ob, H2-Ab, H-2I

MMRRC Submission

038666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0466 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34457879-34464882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34461633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 124 (D124G)

Ref Sequence

ENSEMBL: ENSMUSP00000133906 (fasta)

Gene Model

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

AlphaFold

A0A494BB12

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095342
AA Change: D195G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092985
Gene: ENSMUSG00000041538
AA Change: D195G

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: D169G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129657
Gene: ENSMUSG00000041538
AA Change: D169G

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: D124G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133906
Gene: ENSMUSG00000041538
AA Change: D124G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

97% (63/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,887,321 (GRCm39)	Y373C	probably benign	Het
Abca12	T	G	1: 71,341,822 (GRCm39)	Q1046H	probably damaging	Het
Adgrv1	A	G	13: 81,714,415 (GRCm39)	F956S	probably benign	Het
Alk	A	G	17: 72,212,152 (GRCm39)	V797A	possibly damaging	Het
Ascl2	A	G	7: 142,522,217 (GRCm39)	L77P	probably benign	Het
Aspm	A	T	1: 139,405,639 (GRCm39)	I1509F	probably damaging	Het
AY358078	A	T	14: 52,043,089 (GRCm39)	Y259F	unknown	Het
Cbs	G	A	17: 31,835,126 (GRCm39)	A450V	probably benign	Het
Cdh11	T	A	8: 103,396,690 (GRCm39)	Q213L	possibly damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cfap126	T	C	1: 170,953,769 (GRCm39)	I113T	probably damaging	Het
Clk4	A	G	11: 51,158,155 (GRCm39)	D53G	possibly damaging	Het
Dab1	T	C	4: 104,577,747 (GRCm39)	L272P	probably benign	Het
Dmtf1	A	T	5: 9,182,454 (GRCm39)		probably null	Het
Dph5	A	C	3: 115,722,359 (GRCm39)	D279A	probably benign	Het
Fbxw19	T	A	9: 109,307,717 (GRCm39)	T461S	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gcg	T	C	2: 62,307,282 (GRCm39)	D93G	probably damaging	Het
Gmps	A	G	3: 63,901,365 (GRCm39)	T395A	probably damaging	Het
Itga8	G	T	2: 12,237,697 (GRCm39)	A341E	probably damaging	Het
Itih3	A	G	14: 30,634,831 (GRCm39)		probably null	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kif2c	C	T	4: 117,029,489 (GRCm39)	R215Q	possibly damaging	Het
Letm1	A	C	5: 33,919,074 (GRCm39)		probably benign	Het
Lypd8l	T	C	11: 58,503,331 (GRCm39)		probably benign	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Myh8	G	T	11: 67,189,405 (GRCm39)	A1194S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Nfib	A	C	4: 82,416,775 (GRCm39)	Y87D	probably damaging	Het
Nlrp4a	T	C	7: 26,162,045 (GRCm39)		probably benign	Het
Nsmce1	A	T	7: 125,071,408 (GRCm39)		probably benign	Het
Odad2	T	A	18: 7,286,758 (GRCm39)	I158F	probably benign	Het
Or7g12	T	G	9: 18,899,551 (GRCm39)	V89G	probably benign	Het
Or7g27	A	T	9: 19,250,475 (GRCm39)	T240S	probably damaging	Het
Patj	C	A	4: 98,576,393 (GRCm39)	Q1193K	probably damaging	Het
Pcdhb5	G	A	18: 37,455,596 (GRCm39)	V659M	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pmis2	T	C	7: 30,370,817 (GRCm39)	I46V	probably benign	Het
Ppp2r5e	A	G	12: 75,509,216 (GRCm39)		probably benign	Het
Prom2	A	G	2: 127,370,709 (GRCm39)	F825S	probably damaging	Het
Rab11fip2	G	A	19: 59,894,675 (GRCm39)	A524V	possibly damaging	Het
Rb1cc1	A	C	1: 6,333,491 (GRCm39)		probably null	Het
Rwdd3	G	C	3: 120,952,668 (GRCm39)	Q180E	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgcg	A	T	14: 61,459,135 (GRCm39)	C265S	probably damaging	Het
Slc16a3	T	C	11: 120,848,878 (GRCm39)	S445P	possibly damaging	Het
Slc22a3	G	A	17: 12,677,380 (GRCm39)	Q263*	probably null	Het
Sorcs3	A	G	19: 48,736,758 (GRCm39)	T694A	probably benign	Het
Tbc1d15	T	C	10: 115,055,077 (GRCm39)	K322E	probably damaging	Het
Tecta	G	T	9: 42,284,369 (GRCm39)	F905L	probably benign	Het
Tmeff1	A	G	4: 48,636,853 (GRCm39)	I184V	possibly damaging	Het
Ttf1	A	G	2: 28,955,419 (GRCm39)	H261R	possibly damaging	Het
Ttll6	T	A	11: 96,036,417 (GRCm39)	L349M	probably damaging	Het
Ubac2	G	A	14: 122,211,031 (GRCm39)	V134M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn2r25	T	G	6: 123,829,008 (GRCm39)	I89L	probably benign	Het
Vmn2r6	A	C	3: 64,463,723 (GRCm39)	F370L	probably damaging	Het
Vps13b	T	A	15: 35,445,748 (GRCm39)	Y412*	probably null	Het
Zfp142	A	G	1: 74,624,570 (GRCm39)	S85P	possibly damaging	Het
Zfp516	G	A	18: 82,975,579 (GRCm39)		probably null	Het

Other mutations in H2-Ob

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01871:H2-Ob	APN	17	34,461,519 (GRCm39)	missense	probably damaging	1.00
IGL03247:H2-Ob	APN	17	34,462,466 (GRCm39)	missense	probably benign
Deciduous	UTSW	17	34,462,860 (GRCm39)	critical splice acceptor site	probably null
K3955:H2-Ob	UTSW	17	34,460,158 (GRCm39)	missense	probably damaging	1.00
R0791:H2-Ob	UTSW	17	34,461,588 (GRCm39)	missense	probably damaging	1.00
R0792:H2-Ob	UTSW	17	34,461,588 (GRCm39)	missense	probably damaging	1.00
R0812:H2-Ob	UTSW	17	34,463,100 (GRCm39)	utr 3 prime	probably benign
R2145:H2-Ob	UTSW	17	34,461,554 (GRCm39)	missense	probably benign	0.00
R4677:H2-Ob	UTSW	17	34,461,618 (GRCm39)	missense	probably benign	0.01
R4741:H2-Ob	UTSW	17	34,461,545 (GRCm39)	missense	possibly damaging	0.73
R5011:H2-Ob	UTSW	17	34,460,253 (GRCm39)	critical splice donor site	probably null
R5084:H2-Ob	UTSW	17	34,460,102 (GRCm39)	missense	probably damaging	1.00
R5135:H2-Ob	UTSW	17	34,462,490 (GRCm39)	missense	probably benign	0.20
R5497:H2-Ob	UTSW	17	34,460,144 (GRCm39)	missense	probably benign	0.42
R6034:H2-Ob	UTSW	17	34,460,192 (GRCm39)	missense	probably damaging	1.00
R6034:H2-Ob	UTSW	17	34,460,192 (GRCm39)	missense	probably damaging	1.00
R6272:H2-Ob	UTSW	17	34,461,618 (GRCm39)	missense	probably benign	0.01
R6433:H2-Ob	UTSW	17	34,462,860 (GRCm39)	critical splice acceptor site	probably null
R6794:H2-Ob	UTSW	17	34,460,162 (GRCm39)	missense	possibly damaging	0.96
R7220:H2-Ob	UTSW	17	34,460,234 (GRCm39)	missense	probably damaging	1.00
R8996:H2-Ob	UTSW	17	34,462,531 (GRCm39)	missense	probably damaging	0.97
R9484:H2-Ob	UTSW	17	34,459,989 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGAGGTGACAGTGTATCCAGAG -3'
(R):5'- TCCCAGGCTTAGAGGCAAGTTGTG -3'

Sequencing Primer
(F):5'- CAGTGTATCCAGAGAGGACCC -3'
(R):5'- CAAGTTGTGGGTTAACAGCCTC -3'

Posted On

2013-05-23