Mutagenetix > Incidental Mutation

Incidental Mutation 'R4461:H2-Eb2'

330171

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

041720-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4461 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34544639-34560386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34552497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 114 (V114E)

Ref Sequence

ENSEMBL: ENSMUSP00000056814 (fasta)

Gene Model

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

AlphaFold

Q3UUV9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050325
AA Change: V114E

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341
AA Change: V114E

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	T	C	17: 66,292,932 (GRCm39)		probably null	Het
Apex1	T	C	14: 51,163,970 (GRCm39)	V165A	probably damaging	Het
Btbd17	C	T	11: 114,684,815 (GRCm39)	D75N	possibly damaging	Het
Chd2	T	C	7: 73,190,622 (GRCm39)		probably benign	Het
Coq10a	T	C	10: 128,200,347 (GRCm39)	N138S	possibly damaging	Het
Ctbp1	A	T	5: 33,408,357 (GRCm39)	Y192N	probably damaging	Het
Cx3cl1	A	G	8: 95,507,184 (GRCm39)	*396W	probably null	Het
D6Ertd527e	T	C	6: 87,088,299 (GRCm39)	I154T	unknown	Het
Dao	T	A	5: 114,157,987 (GRCm39)	V203E	probably damaging	Het
Egr4	G	A	6: 85,489,322 (GRCm39)	A246V	probably damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Hpgds	A	G	6: 65,100,618 (GRCm39)	L120P	probably damaging	Het
Ikbke	C	T	1: 131,193,659 (GRCm39)	V464I	probably benign	Het
Kank2	G	A	9: 21,706,041 (GRCm39)	Q326*	probably null	Het
Klhl26	T	C	8: 70,904,194 (GRCm39)	Y538C	probably damaging	Het
Klkb1	A	G	8: 45,726,612 (GRCm39)	S464P	probably damaging	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Kmt2c	A	G	5: 25,504,874 (GRCm39)	V3478A	probably benign	Het
Knl1	A	C	2: 118,890,080 (GRCm39)	N44T	probably benign	Het
Letm2	A	G	8: 26,076,715 (GRCm39)	C296R	probably damaging	Het
Lrrc37a	A	G	11: 103,355,180 (GRCm39)		probably null	Het
Med20	T	C	17: 47,929,842 (GRCm39)	V93A	probably benign	Het
Mtmr11	T	C	3: 96,075,207 (GRCm39)		probably benign	Het
Muc1	A	T	3: 89,138,870 (GRCm39)	D493V	probably damaging	Het
Nek2	C	T	1: 191,554,827 (GRCm39)	P180S	probably damaging	Het
Nin	A	T	12: 70,089,359 (GRCm39)	M1352K	probably benign	Het
Or5aq1	T	C	2: 86,966,005 (GRCm39)	H220R	probably benign	Het
P3h3	A	T	6: 124,822,531 (GRCm39)	S547T	probably benign	Het
Pik3c2g	C	T	6: 139,787,407 (GRCm39)		probably benign	Het
Pkd1l3	A	G	8: 110,359,345 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,501,003 (GRCm39)	I118M	probably benign	Het
Rps6ka5	C	A	12: 100,537,123 (GRCm39)	D536Y	probably damaging	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Siglece	T	C	7: 43,300,929 (GRCm39)	Q462R	probably benign	Het
Sirt3	T	C	7: 140,444,913 (GRCm39)	D295G	possibly damaging	Het
Snph	G	A	2: 151,435,767 (GRCm39)	S318L	probably benign	Het
Snx18	T	C	13: 113,753,731 (GRCm39)	T401A	probably damaging	Het
Tefm	A	G	11: 80,028,875 (GRCm39)		probably null	Het
Thada	T	C	17: 84,733,665 (GRCm39)	Y994C	probably damaging	Het
Trmt1	A	G	8: 85,425,778 (GRCm39)	N531D	probably benign	Het
Ttc17	A	G	2: 94,196,916 (GRCm39)	V477A	probably benign	Het
Ubxn10	T	A	4: 138,448,187 (GRCm39)	Q163L	probably benign	Het
Ulk4	A	T	9: 120,985,950 (GRCm39)	I908N	possibly damaging	Het
Zfp747l1	A	G	7: 126,983,917 (GRCm39)	L395P	probably damaging	Het
Zscan12	C	T	13: 21,550,789 (GRCm39)	S136L	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
R4191:H2-Eb2	UTSW	17	34,563,529 (GRCm39)	unclassified	probably benign
R4194:H2-Eb2	UTSW	17	34,552,300 (GRCm39)	missense	probably benign
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'- CAGTTGAAGGCTGAGTGTCAC -3'
(R):5'- ATGATCTCCACACACGTGAC -3'

Sequencing Primer
(F):5'- AAGGCTGAGTGTCACTACTTC -3'
(R):5'- GTGACACAGAACTCTCCTCTC -3'

Posted On

2015-07-21