Mutagenetix > Incidental Mutation

Incidental Mutation 'R4191:H2-Eb2'

318333

Institutional Source

Beutler Lab

Gene Symbol

H2-Eb2

Ensembl Gene

ENSMUSG00000067341

Gene Name

histocompatibility 2, class II antigen E beta2

Synonyms

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

MMRRC Submission

041022-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R4191 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34544639-34560386 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 34563529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056814 (fasta)

Gene Model

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

AlphaFold

Q3UUV9

Predicted Effect

probably benign
Transcript: ENSMUST00000050325

SMART Domains

Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134042

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,207,728 (GRCm39)	T22A	probably damaging	Het
Ache	A	T	5: 137,289,334 (GRCm39)	I347F	probably damaging	Het
Adgrl1	C	G	8: 84,665,569 (GRCm39)	R1464G	probably benign	Het
Cdh11	T	C	8: 103,377,380 (GRCm39)	D422G	probably damaging	Het
Cdx1	C	T	18: 61,153,510 (GRCm39)	S176N	possibly damaging	Het
Cimip3	C	T	17: 47,747,562 (GRCm39)	R61H	probably damaging	Het
Csmd3	T	C	15: 47,710,667 (GRCm39)	D1536G	probably damaging	Het
Cyct	G	T	2: 76,184,535 (GRCm39)	P72Q	probably damaging	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Disp1	G	T	1: 182,870,737 (GRCm39)	A561E	probably damaging	Het
Donson	C	A	16: 91,485,480 (GRCm39)	A41S	possibly damaging	Het
Gldc	T	C	19: 30,123,058 (GRCm39)	E279G	probably damaging	Het
Gpr160	A	T	3: 30,950,863 (GRCm39)	I312F	possibly damaging	Het
Igdcc4	A	G	9: 65,031,433 (GRCm39)	Q457R	probably benign	Het
Irf2bp2	T	C	8: 127,320,084 (GRCm39)	D31G	probably damaging	Het
Klrb1	T	A	6: 128,690,597 (GRCm39)	K42*	probably null	Het
Lrrfip1	A	T	1: 91,038,121 (GRCm39)	E446D	probably benign	Het
Macf1	A	G	4: 123,366,835 (GRCm39)	F1077S	possibly damaging	Het
Maml3	A	G	3: 51,597,390 (GRCm39)	V1098A	probably benign	Het
Mrgpra4	T	C	7: 47,630,867 (GRCm39)	S245G	probably benign	Het
Mybbp1a	A	G	11: 72,342,113 (GRCm39)	E1283G	probably damaging	Het
Myh2	A	G	11: 67,068,226 (GRCm39)	S285G	possibly damaging	Het
Myh7b	A	G	2: 155,475,319 (GRCm39)	D1876G	probably benign	Het
Nr4a2	T	C	2: 57,002,391 (GRCm39)	S21G	probably damaging	Het
Or10d1c	T	A	9: 38,894,313 (GRCm39)	Q9L	probably benign	Het
Or2y14	T	A	11: 49,404,639 (GRCm39)	M58K	probably damaging	Het
Or7g25	A	G	9: 19,160,383 (GRCm39)	V104A	probably benign	Het
Or8c11	T	A	9: 38,289,648 (GRCm39)	M157K	probably damaging	Het
Or8k18	C	A	2: 86,085,666 (GRCm39)	V124L	probably benign	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk6	T	C	7: 65,675,056 (GRCm39)	S476P	probably damaging	Het
Pex10	T	C	4: 155,152,362 (GRCm39)		probably null	Het
Pgf	T	C	12: 85,218,561 (GRCm39)	D63G	probably benign	Het
Piwil4	A	G	9: 14,626,296 (GRCm39)	S465P	probably damaging	Het
Plcb1	A	C	2: 135,187,010 (GRCm39)	H759P	probably damaging	Het
Pmfbp1	A	T	8: 110,254,260 (GRCm39)	M432L	probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Rmnd1	A	T	10: 4,360,809 (GRCm39)		probably benign	Het
Ro60	T	C	1: 143,646,524 (GRCm39)	I74V	probably benign	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Svep1	C	T	4: 58,046,601 (GRCm39)	C3510Y	possibly damaging	Het
Tanc1	A	G	2: 59,669,357 (GRCm39)	I1274V	probably damaging	Het
Tep1	T	C	14: 51,074,263 (GRCm39)	E1874G	probably damaging	Het
Tgfbr2	T	C	9: 115,939,009 (GRCm39)	T298A	probably damaging	Het
Tlk1	G	A	2: 70,555,891 (GRCm39)	R423C	probably damaging	Het
Trp53rkb	T	C	2: 166,637,395 (GRCm39)	I117T	probably damaging	Het
Ttll9	A	G	2: 152,844,927 (GRCm39)	T432A	probably benign	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Zfp112	A	G	7: 23,825,568 (GRCm39)	D512G	probably benign	Het
Zfyve19	A	G	2: 119,041,312 (GRCm39)	K76R	possibly damaging	Het

Other mutations in H2-Eb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:H2-Eb2	APN	17	34,553,341 (GRCm39)	missense	probably damaging	0.98
IGL00965:H2-Eb2	APN	17	34,544,771 (GRCm39)	splice site	probably null
IGL01380:H2-Eb2	APN	17	34,554,783 (GRCm39)	missense	probably benign	0.41
IGL02057:H2-Eb2	APN	17	34,554,741 (GRCm39)	splice site	probably benign
IGL02190:H2-Eb2	APN	17	34,553,348 (GRCm39)	missense	probably damaging	1.00
IGL02220:H2-Eb2	APN	17	34,544,661 (GRCm39)	utr 5 prime	probably benign
R0469:H2-Eb2	UTSW	17	34,553,218 (GRCm39)	nonsense	probably null
R0510:H2-Eb2	UTSW	17	34,553,218 (GRCm39)	nonsense	probably null
R1169:H2-Eb2	UTSW	17	34,552,331 (GRCm39)	missense	possibly damaging	0.89
R1334:H2-Eb2	UTSW	17	34,553,324 (GRCm39)	missense	probably damaging	0.99
R1598:H2-Eb2	UTSW	17	34,553,348 (GRCm39)	missense	probably damaging	1.00
R1991:H2-Eb2	UTSW	17	34,553,278 (GRCm39)	missense	probably benign	0.15
R2103:H2-Eb2	UTSW	17	34,553,278 (GRCm39)	missense	probably benign	0.15
R4194:H2-Eb2	UTSW	17	34,552,300 (GRCm39)	missense	probably benign
R4461:H2-Eb2	UTSW	17	34,552,497 (GRCm39)	missense	possibly damaging	0.80
R4774:H2-Eb2	UTSW	17	34,553,375 (GRCm39)	missense	probably damaging	0.99
R4882:H2-Eb2	UTSW	17	34,553,230 (GRCm39)	missense	probably benign
R5663:H2-Eb2	UTSW	17	34,552,382 (GRCm39)	missense	possibly damaging	0.92
R6913:H2-Eb2	UTSW	17	34,552,523 (GRCm39)	missense	possibly damaging	0.89
R7139:H2-Eb2	UTSW	17	34,553,395 (GRCm39)	missense	probably benign	0.30
R7457:H2-Eb2	UTSW	17	34,553,321 (GRCm39)	missense	probably damaging	1.00
R9173:H2-Eb2	UTSW	17	34,552,491 (GRCm39)	missense	probably benign	0.37
Z1176:H2-Eb2	UTSW	17	34,553,283 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AGTATCTATTTACAGCTGCGTTCC -3'
(R):5'- ATCCCGATTGTCCCAGTCAC -3'

Sequencing Primer
(F):5'- AGCTGCGTTCCCACATCTGG -3'
(R):5'- GATTGTCCCAGTCACCGTCC -3'

Posted On

2015-06-10