Mutagenetix > Incidental Mutation

Incidental Mutation 'R5851:H2-Eb1'

454698

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

044067-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5851 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

34524841-34535648 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34528745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 92 (P92L)

Ref Sequence

ENSEMBL: ENSMUSP00000074143 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074557
AA Change: P92L

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000074143
Gene: ENSMUSG00000060586
AA Change: P92L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174074

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,332,322 (GRCm39)	N1452D	possibly damaging	Het
Abhd15	T	C	11: 77,409,273 (GRCm39)	L329P	probably benign	Het
Add3	T	C	19: 53,225,205 (GRCm39)	S442P	probably damaging	Het
Arhgef18	T	C	8: 3,484,980 (GRCm39)	F228L	probably damaging	Het
Bptf	A	T	11: 107,001,688 (GRCm39)	Y475N	probably damaging	Het
C3	T	C	17: 57,518,612 (GRCm39)	N1257S	probably null	Het
Cdkl1	A	T	12: 69,803,338 (GRCm39)	Y179*	probably null	Het
Ceacam1	T	C	7: 25,174,025 (GRCm39)	N210S	possibly damaging	Het
Celf3	T	A	3: 94,386,433 (GRCm39)	I7N	probably damaging	Het
Clxn	T	A	16: 14,738,300 (GRCm39)	L155H	probably damaging	Het
Cmpk1	A	G	4: 114,844,167 (GRCm39)	V55A	possibly damaging	Het
Csrnp1	C	T	9: 119,802,144 (GRCm39)	G305D	possibly damaging	Het
Dnah3	A	G	7: 119,638,585 (GRCm39)	S1266P	possibly damaging	Het
Edc4	T	C	8: 106,617,499 (GRCm39)	L1077P	probably damaging	Het
Fam174a	G	A	1: 95,252,868 (GRCm39)	G157S	probably damaging	Het
Fubp3	T	A	2: 31,488,622 (GRCm39)	D159E	probably benign	Het
Garem2	C	T	5: 30,319,288 (GRCm39)	T250M	probably damaging	Het
Ifnl3	G	T	7: 28,222,936 (GRCm39)	C69F	probably damaging	Het
Itga2b	C	A	11: 102,348,427 (GRCm39)		probably benign	Het
Klhl33	A	T	14: 51,130,335 (GRCm39)	D386E	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Loricrin	G	A	3: 91,987,846 (GRCm39)	A480V	unknown	Het
Msh3	G	T	13: 92,352,030 (GRCm39)	Q1041K	probably benign	Het
Mtrex	G	A	13: 113,045,486 (GRCm39)	R349W	probably damaging	Het
Myo1e	G	A	9: 70,291,086 (GRCm39)	G959E	probably benign	Het
Nfat5	G	T	8: 108,074,359 (GRCm39)	V338L	probably damaging	Het
Nrf1	A	G	6: 30,089,975 (GRCm39)	H18R	possibly damaging	Het
Nup160	A	G	2: 90,537,382 (GRCm39)	D752G	probably benign	Het
Obscn	A	T	11: 58,885,526 (GRCm39)	L2489*	probably null	Het
Or4p22	A	G	2: 88,317,204 (GRCm39)	I43V	possibly damaging	Het
Or51q1c	A	G	7: 103,652,659 (GRCm39)	E59G	probably benign	Het
Paip1	T	C	13: 119,577,301 (GRCm39)	S215P	possibly damaging	Het
Pate2	T	A	9: 35,581,797 (GRCm39)	Y26*	probably null	Het
Pcdhb10	A	G	18: 37,545,811 (GRCm39)	I296V	probably benign	Het
Pdzph1	T	G	17: 59,280,741 (GRCm39)	T514P	probably benign	Het
Pnlip	G	A	19: 58,662,224 (GRCm39)	W123*	probably null	Het
Prmt2	C	A	10: 76,072,574 (GRCm39)	C9F	possibly damaging	Het
Rbl1	T	A	2: 157,009,245 (GRCm39)	K763N	probably benign	Het
Rfk	C	T	19: 17,372,562 (GRCm39)	A28V	probably damaging	Het
Scart1	C	T	7: 139,807,940 (GRCm39)	P704S	possibly damaging	Het
Sdk1	G	A	5: 141,948,424 (GRCm39)	V590I	probably benign	Het
Sele	A	G	1: 163,877,143 (GRCm39)	K140E	probably benign	Het
Sla	G	A	15: 66,655,572 (GRCm39)	T189I	probably damaging	Het
Slc46a2	A	G	4: 59,913,906 (GRCm39)	V339A	probably damaging	Het
Slc5a9	A	G	4: 111,742,797 (GRCm39)	F432L	probably benign	Het
Slc6a19	A	G	13: 73,839,859 (GRCm39)	F141S	possibly damaging	Het
Tas2r123	T	C	6: 132,824,271 (GRCm39)	L56S	probably damaging	Het
Tektip1	A	T	10: 81,200,711 (GRCm39)		probably null	Het
Tmem245	T	C	4: 56,916,770 (GRCm39)	I53V	probably benign	Het
Tor2a	A	T	2: 32,651,619 (GRCm39)	Q278L	probably benign	Het
Trav6-3	A	G	14: 53,667,572 (GRCm39)	M15V	probably benign	Het
Ttc28	G	A	5: 111,383,335 (GRCm39)		probably benign	Het
Ubap2	G	A	4: 41,206,268 (GRCm39)	Q534*	probably null	Het
Yju2	C	T	17: 56,274,582 (GRCm39)	S298F	probably damaging	Het
Zfp954	C	A	7: 7,118,624 (GRCm39)	E307*	probably null	Het
Zscan21	A	G	5: 138,124,740 (GRCm39)	K219E	probably benign	Het

Other mutations in H2-Eb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0724:H2-Eb1	UTSW	17	34,534,006 (GRCm39)	splice site	probably benign
R0763:H2-Eb1	UTSW	17	34,533,133 (GRCm39)	splice site	probably benign
R2029:H2-Eb1	UTSW	17	34,533,366 (GRCm39)	missense	probably damaging	1.00
R3155:H2-Eb1	UTSW	17	34,533,348 (GRCm39)	missense	probably damaging	0.98
R3440:H2-Eb1	UTSW	17	34,528,655 (GRCm39)	missense	probably damaging	1.00
R4050:H2-Eb1	UTSW	17	34,533,342 (GRCm39)	missense	probably damaging	1.00
R4084:H2-Eb1	UTSW	17	34,533,417 (GRCm39)	missense	probably damaging	0.98
R5605:H2-Eb1	UTSW	17	34,528,807 (GRCm39)	missense	probably benign	0.09
R5667:H2-Eb1	UTSW	17	34,533,229 (GRCm39)	nonsense	probably null
R5671:H2-Eb1	UTSW	17	34,533,229 (GRCm39)	nonsense	probably null
R6951:H2-Eb1	UTSW	17	34,528,831 (GRCm39)	nonsense	probably null
R7387:H2-Eb1	UTSW	17	34,533,207 (GRCm39)	missense	probably damaging	1.00
R9160:H2-Eb1	UTSW	17	34,528,831 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATCTTGTCGGCAGAGAAG -3'
(R):5'- TCAGCAGTTAATGGTACCAAGG -3'

Sequencing Primer
(F):5'- CCACAGCATGGTTTTTGGAATACTG -3'
(R):5'- GCTTAAAAGCGCCTGTGG -3'

Posted On

2017-02-10