Mutagenetix > Incidental Mutations

Incidental Mutation 'R7387:H2-Eb1'

573218

Institutional Source

Beutler Lab

Gene Symbol

H2-Eb1

Ensembl Gene

ENSMUSG00000060586

Gene Name

histocompatibility 2, class II antigen E beta

Synonyms

H-2Eb, Ia-4, Ia4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7387 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34305877-34316199 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34314233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 143 (V143D)

Ref Sequence

ENSEMBL: ENSMUSP00000074143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074557]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074557
AA Change: V143D

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

SMART Domains

Protein: ENSMUSP00000074143
Gene: ENSMUSG00000060586
AA Change: V143D

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
MHC_II_beta	40	114	4.64e-47	SMART
IGc1	139	210	2.24e-24	SMART
transmembrane domain	226	248	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. 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. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,505,577	Y182H	probably damaging	Het
Abca6	A	G	11: 110,202,420	V1009A	probably benign	Het
Abcg2	A	T	6: 58,689,624	I573F	possibly damaging	Het
Adck1	A	G	12: 88,461,052	T480A	probably benign	Het
Adcy5	T	C	16: 35,272,090	I607T	probably damaging	Het
Add2	A	G	6: 86,086,015	K52E	probably damaging	Het
Arid4a	T	A	12: 71,087,496	S1191T	probably damaging	Het
Atg2a	G	T	19: 6,255,168	C1207F	possibly damaging	Het
Atg2b	T	C	12: 105,622,775	D1875G	probably damaging	Het
B3gntl1	A	G	11: 121,629,915	L224P	possibly damaging	Het
BC035947	A	G	1: 78,498,461	V478A	possibly damaging	Het
Cachd1	T	C	4: 100,777,178	V17A	unknown	Het
Cad	T	C	5: 31,061,940	Y669H	probably damaging	Het
Ccdc110	A	T	8: 45,942,196	M375L	probably benign	Het
Cdc6	C	T	11: 98,908,216		probably benign	Het
Cdhr4	T	A	9: 107,996,912	Y72*	probably null	Het
Cenpe	T	G	3: 135,247,037	M1496R	probably benign	Het
Clec4a1	T	G	6: 122,922,057	C28W	possibly damaging	Het
Cma2	A	G	14: 55,973,048	N120S	probably benign	Het
Cped1	A	T	6: 22,059,934	I200L	probably benign	Het
Cpsf1	A	T	15: 76,602,566	S257T	possibly damaging	Het
Dnah6	G	A	6: 73,212,612	Q18*	probably null	Het
Dpp10	T	C	1: 123,341,140	E720G	probably benign	Het
Dus2	G	A	8: 106,045,987	R243Q	probably damaging	Het
Dync2h1	T	C	9: 7,157,932	N769S	possibly damaging	Het
Ece1	T	A	4: 137,938,784	I313N	possibly damaging	Het
Ern1	A	T	11: 106,421,952	V201E	probably damaging	Het
Exoc3l	A	G	8: 105,294,973	L141P	probably damaging	Het
Fam168b	G	A	1: 34,819,708	T131M	probably damaging	Het
Fam212a	C	T	9: 107,984,427	R230H	probably damaging	Het
Fez1	T	C	9: 36,867,812	F262L	probably damaging	Het
H2-DMa	T	C	17: 34,138,127	Y200H	probably damaging	Het
Ighv1-39	G	A	12: 114,914,868	P28S	probably benign	Het
Iqgap1	C	T	7: 80,720,990	V1544I	probably benign	Het
Itga10	A	T	3: 96,652,778	Q536L	probably benign	Het
Itih2	C	T	2: 10,130,508	E24K	possibly damaging	Het
Itsn2	A	T	12: 4,639,781	N618I	probably damaging	Het
Kcnd2	T	A	6: 21,216,778	S160R	probably benign	Het
Kif11	T	A	19: 37,409,756	F677I	probably damaging	Het
Ldlrad2	C	T	4: 137,574,517	C18Y	probably damaging	Het
Lrp4	T	C	2: 91,476,614	V360A	probably benign	Het
Lrrtm2	T	C	18: 35,212,972	T426A	probably damaging	Het
Mcidas	T	C	13: 112,994,088	F40L	probably benign	Het
Med27	T	A	2: 29,413,407	L123Q	possibly damaging	Het
Mettl2	T	C	11: 105,132,538	V249A	probably benign	Het
Mllt6	C	A	11: 97,674,600	A592D	probably benign	Het
Mrps5	C	T	2: 127,600,884	T291I	probably damaging	Het
Muc16	T	A	9: 18,641,720	T4426S	probably benign	Het
Myh1	A	T	11: 67,208,889	M542L	probably benign	Het
Nlrp12	G	T	7: 3,241,201	A227D	probably damaging	Het
Nlrp14	T	C	7: 107,183,107	Y504H	probably damaging	Het
Nr1i2	T	C	16: 38,266,080	S8G	probably benign	Het
Ntrk2	A	G	13: 58,985,979	K524R	probably damaging	Het
Nup210	C	T	6: 91,021,396		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1186	T	A	2: 88,526,400	Y272*	probably null	Het
Olfr197	A	T	16: 59,186,336	I49N	probably damaging	Het
Olfr677	T	A	7: 105,057,090	Y281*	probably null	Het
Patl1	A	G	19: 11,933,730	I525M	probably benign	Het
Pcnx3	A	G	19: 5,673,336	L1277P	probably benign	Het
Pelp1	G	A	11: 70,396,599	T461I	probably damaging	Het
Phf20	T	C	2: 156,294,240	C660R	probably damaging	Het
Pkd1l1	T	A	11: 8,901,203	Y1193F		Het
Pknox2	G	T	9: 36,957,068		probably benign	Het
Pml	T	C	9: 58,229,894	T541A	probably benign	Het
Prss35	C	T	9: 86,755,921	T248I	probably damaging	Het
Rccd1	T	A	7: 80,320,602	N89I	probably benign	Het
Rcor3	T	C	1: 192,137,524		probably benign	Het
Rreb1	A	G	13: 37,947,064	E16G	unknown	Het
Scgb2b12	T	A	7: 32,326,635	H44L	probably benign	Het
Sec23ip	C	T	7: 128,745,003		probably benign	Het
Sgsm1	A	C	5: 113,263,700	F720C	probably damaging	Het
Slc25a51	A	T	4: 45,399,841	F116L	possibly damaging	Het
Spats2l	T	C	1: 57,902,134	V253A	probably damaging	Het
Spopl	A	T	2: 23,537,509	F204I	probably benign	Het
Sqle	G	A	15: 59,330,754	R519Q	probably benign	Het
Stil	T	G	4: 115,024,036	H592Q	probably benign	Het
Strip1	T	A	3: 107,625,730	S201C	probably damaging	Het
Tcp11l1	C	A	2: 104,699,930	A70S	possibly damaging	Het
Tmem163	T	C	1: 127,519,443		probably null	Het
Tmem184c	A	T	8: 77,597,930	Y310*	probably null	Het
Tmem30c	T	C	16: 57,270,023	N274D	probably benign	Het
Trim30c	T	A	7: 104,390,190	I133F	probably damaging	Het
Vars	C	T	17: 35,004,792	Q228*	probably null	Het
Zdbf2	G	A	1: 63,304,039	V526I	possibly damaging	Het
Zfp819	T	G	7: 43,612,641		probably null	Het

Other mutations in H2-Eb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0724:H2-Eb1	UTSW	17	34315032	splice site	probably benign
R0763:H2-Eb1	UTSW	17	34314159	splice site	probably benign
R2029:H2-Eb1	UTSW	17	34314392	missense	probably damaging	1.00
R3155:H2-Eb1	UTSW	17	34314374	missense	probably damaging	0.98
R3440:H2-Eb1	UTSW	17	34309681	missense	probably damaging	1.00
R4050:H2-Eb1	UTSW	17	34314368	missense	probably damaging	1.00
R4084:H2-Eb1	UTSW	17	34314443	missense	probably damaging	0.98
R5605:H2-Eb1	UTSW	17	34309833	missense	probably benign	0.09
R5667:H2-Eb1	UTSW	17	34314255	nonsense	probably null
R5671:H2-Eb1	UTSW	17	34314255	nonsense	probably null
R5851:H2-Eb1	UTSW	17	34309771	missense	probably benign	0.13
R6951:H2-Eb1	UTSW	17	34309857	nonsense	probably null
R9160:H2-Eb1	UTSW	17	34309857	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAAAACAGAACCTGAGTCCTGG -3'
(R):5'- CAGGTGTAAACCTCTCCACTC -3'

Sequencing Primer
(F):5'- GACTGTAGAACCTTAGCCTGC -3'
(R):5'- ACTCTGAGGAACCGTCTCCAG -3'

Posted On

2019-09-13