Mutagenetix > Incidental Mutations

Incidental Mutation 'R4194:H2-Eb2'

318504

Institutional Source

Beutler Lab

Gene Symbol

H2-Eb2

Ensembl Gene

ENSMUSG00000067341

Gene Name

histocompatibility 2, class II antigen E beta2

Synonyms

A130038H09Rik, Ia5, H-2Eb2, Ia-5

MMRRC Submission

041025-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34325665-34340229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34333326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 48 (N48K)

Ref Sequence

ENSEMBL: ENSMUSP00000056814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050325]

AlphaFold

Q3UUV9

Predicted Effect

probably benign
Transcript: ENSMUST00000050325
AA Change: N48K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341
AA Change: N48K

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC
MHC_II_beta	42	115	8.29e-35	SMART
IGc1	140	211	1.24e-26	SMART
transmembrane domain	227	249	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	T	6: 40,921,071	V226E	probably damaging	Het
Adamtsl1	A	T	4: 86,054,008		probably benign	Het
Adgrv1	C	A	13: 81,498,996	V3142F	probably damaging	Het
Alms1	C	T	6: 85,677,990	Q3173*	probably null	Het
Ankrd26	A	G	6: 118,523,678	F944S	probably benign	Het
Arhgap11a	G	T	2: 113,841,994	H210N	probably benign	Het
Brca1	T	C	11: 101,525,287	N674D	probably benign	Het
Bud13	T	A	9: 46,298,495	V634E	probably damaging	Het
Capn13	C	T	17: 73,339,484	M311I	possibly damaging	Het
Cdyl2	T	C	8: 116,579,164		probably null	Het
Celsr3	T	C	9: 108,843,302		probably null	Het
Col6a5	C	G	9: 105,945,914	E81D	unknown	Het
Ctbs	C	A	3: 146,450,613	H38N	probably benign	Het
Ctnnd1	T	C	2: 84,603,701	D897G	possibly damaging	Het
Cyp2d41-ps	T	C	15: 82,781,953		noncoding transcript	Het
Dnttip2	G	A	3: 122,280,761	E616K	probably damaging	Het
Epb41l5	A	T	1: 119,608,093	S348R	probably damaging	Het
Fam185a	A	G	5: 21,425,454	H96R	probably benign	Het
Fbxo11	T	C	17: 88,009,108	D279G	possibly damaging	Het
Gm3952	C	A	8: 128,759,865	G1578V	probably damaging	Het
Grb7	T	A	11: 98,455,055		probably benign	Het
Grik1	A	G	16: 87,946,728	V537A	probably benign	Het
Kank3	A	G	17: 33,822,263		probably benign	Het
Kifap3	T	C	1: 163,915,825	S792P	probably benign	Het
Klhl35	A	T	7: 99,473,851		probably null	Het
Lpxn	T	C	19: 12,833,235	F348L	probably damaging	Het
Mef2d	A	G	3: 88,158,303	Y114C	possibly damaging	Het
Mfap3	T	A	11: 57,529,703	L170H	probably damaging	Het
Mical1	C	G	10: 41,481,628	F410L	possibly damaging	Het
Mppe1	G	A	18: 67,228,068	S206F	probably benign	Het
Myo9b	C	T	8: 71,359,624	A2013V	possibly damaging	Het
Phactr3	T	C	2: 178,283,109	V243A	possibly damaging	Het
Ppp4r4	T	C	12: 103,558,445	L92P	probably damaging	Het
Rap1gds1	C	T	3: 138,959,090	D236N	probably damaging	Het
Rnf8	T	C	17: 29,631,668		probably benign	Het
Rpl31-ps17	C	T	12: 54,701,649		noncoding transcript	Het
Sfta2	T	C	17: 35,628,165		probably null	Het
Sipa1l2	T	A	8: 125,491,672	T309S	probably benign	Het
Sos1	T	C	17: 80,398,584	D1186G	probably benign	Het
Sptb	C	A	12: 76,613,010	V1039F	probably benign	Het
Sycp3	T	C	10: 88,463,375	V68A	probably benign	Het
Tas1r3	T	C	4: 155,862,985	E81G	probably damaging	Het
Ttc3	G	A	16: 94,422,277	R253H	probably damaging	Het
Ugt1a7c	A	G	1: 88,095,727	T203A	possibly damaging	Het
Vtcn1	A	T	3: 100,888,209	E164V	probably damaging	Het
Zan	T	C	5: 137,463,555	T1121A	unknown	Het
Zfp473	T	C	7: 44,732,252	I885V	probably benign	Het
Zfp990	A	T	4: 145,536,977		probably null	Het

Other mutations in H2-Eb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:H2-Eb2	APN	17	34334367	missense	probably damaging	0.98
IGL00965:H2-Eb2	APN	17	34325797	splice site	probably null
IGL01380:H2-Eb2	APN	17	34335809	missense	probably benign	0.41
IGL02057:H2-Eb2	APN	17	34335767	splice site	probably benign
IGL02190:H2-Eb2	APN	17	34334374	missense	probably damaging	1.00
IGL02220:H2-Eb2	APN	17	34325687	utr 5 prime	probably benign
R0469:H2-Eb2	UTSW	17	34334244	nonsense	probably null
R0510:H2-Eb2	UTSW	17	34334244	nonsense	probably null
R1169:H2-Eb2	UTSW	17	34333357	missense	possibly damaging	0.89
R1334:H2-Eb2	UTSW	17	34334350	missense	probably damaging	0.99
R1598:H2-Eb2	UTSW	17	34334374	missense	probably damaging	1.00
R1991:H2-Eb2	UTSW	17	34334304	missense	probably benign	0.15
R2103:H2-Eb2	UTSW	17	34334304	missense	probably benign	0.15
R4191:H2-Eb2	UTSW	17	34344555	unclassified	probably benign
R4461:H2-Eb2	UTSW	17	34333523	missense	possibly damaging	0.80
R4774:H2-Eb2	UTSW	17	34334401	missense	probably damaging	0.99
R4882:H2-Eb2	UTSW	17	34334256	missense	probably benign
R5663:H2-Eb2	UTSW	17	34333408	missense	possibly damaging	0.92
R6913:H2-Eb2	UTSW	17	34333549	missense	possibly damaging	0.89
R7139:H2-Eb2	UTSW	17	34334421	missense	probably benign	0.30
R7457:H2-Eb2	UTSW	17	34334347	missense	probably damaging	1.00
R9173:H2-Eb2	UTSW	17	34333517	missense	probably benign	0.37
Z1176:H2-Eb2	UTSW	17	34334309	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AAGTGTTTCCCCTGCTTCAG -3'
(R):5'- AGTTATTTCTGCACCTGTCTACTGAG -3'

Sequencing Primer
(F):5'- CCTGCTTCAGGTGGTGAG -3'
(R):5'- GGCACGATAATTGTCCAGCATGTC -3'

Posted On

2015-06-10