Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01380:H2-Eb2'

78788

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-Eb2

Ensembl Gene

ENSMUSG00000067341

Gene Name

histocompatibility 2, class II antigen E beta2

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL01380

Quality Score

Status

Chromosome

Chromosomal Location

34325665-34340229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34335809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 228 (L228F)

Ref Sequence

ENSEMBL: ENSMUSP00000056814 (fasta)

Gene Model

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

AlphaFold

Q3UUV9

Predicted Effect

probably benign
Transcript: ENSMUST00000050325
AA Change: L228F

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341
AA Change: L228F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,324,022	V352L	possibly damaging	Het
Ankrd44	A	T	1: 54,727,565	M488K	probably benign	Het
Ano8	A	G	8: 71,480,809		probably benign	Het
Atp2a1	T	A	7: 126,448,770	M623L	possibly damaging	Het
Atxn10	G	T	15: 85,376,695	E214*	probably null	Het
Btla	A	C	16: 45,250,353	D225A	probably benign	Het
C030048H21Rik	G	A	2: 26,256,647	Q1218*	probably null	Het
C130079G13Rik	A	G	3: 59,932,632	T42A	probably benign	Het
Cacna1a	A	G	8: 84,559,117	Y750C	probably damaging	Het
Ccdc15	A	T	9: 37,276,557		probably benign	Het
Ccdc18	T	A	5: 108,180,887	I724N	probably damaging	Het
Cluh	T	A	11: 74,665,946	F937L	probably benign	Het
Clybl	G	T	14: 122,379,349	A259S	probably benign	Het
Cyp4f39	T	G	17: 32,481,858	I167S	probably damaging	Het
Dchs1	T	A	7: 105,762,211	D1566V	probably damaging	Het
Dnah3	C	T	7: 119,926,564	A3867T	probably damaging	Het
Dtwd1	T	A	2: 126,159,927	L189Q	probably benign	Het
Dusp10	T	C	1: 184,069,014	I326T	possibly damaging	Het
Eaf1	T	A	14: 31,497,810		probably benign	Het
Eif3c	C	T	7: 126,564,413		probably benign	Het
Fam169a	C	T	13: 97,091,951	T44M	probably damaging	Het
Fam184a	T	C	10: 53,694,686		probably benign	Het
Fam25c	C	T	14: 34,353,698	A46T	probably null	Het
Gckr	A	G	5: 31,299,633		probably benign	Het
Gfra2	G	T	14: 70,967,146		probably benign	Het
Gm8237	A	T	14: 5,863,703		probably null	Het
Igf2r	T	C	17: 12,695,374	N1736S	probably benign	Het
Izumo1	T	G	7: 45,627,095	S361A	probably benign	Het
Klri1	T	C	6: 129,698,798	I170V	probably benign	Het
L3mbtl2	C	T	15: 81,671,125	A193V	possibly damaging	Het
Lats1	T	A	10: 7,691,780	M105K	possibly damaging	Het
Lrpprc	T	C	17: 84,722,730	D1080G	probably benign	Het
Lrrc74a	A	T	12: 86,761,722	M425L	possibly damaging	Het
Mfsd13a	G	T	19: 46,367,908	D151Y	probably damaging	Het
Mst1	G	A	9: 108,084,588	E640K	probably damaging	Het
Napsa	T	C	7: 44,586,674	V379A	probably damaging	Het
Olfr1	A	T	11: 73,395,191	M277K	probably damaging	Het
Olfr371	A	T	8: 85,231,329	Y278F	possibly damaging	Het
Olfr371	C	A	8: 85,231,146	S217Y	probably damaging	Het
Olfr544	C	T	7: 102,484,385	C245Y	probably damaging	Het
Otop3	T	C	11: 115,346,411	V567A	probably damaging	Het
Oxsr1	A	T	9: 119,260,101		probably benign	Het
Pak2	A	T	16: 32,041,544	V167E	probably benign	Het
Pcdhb16	A	G	18: 37,479,445	H486R	probably benign	Het
Plekha5	C	T	6: 140,570,316		probably benign	Het
Rbm6	T	C	9: 107,788,349	D616G	probably damaging	Het
Sf3b1	T	C	1: 54,987,949	Y1249C	probably damaging	Het
Sipa1l3	T	C	7: 29,331,372	H534R	possibly damaging	Het
Slco1c1	T	C	6: 141,540,051	Y136H	probably damaging	Het
Smarca4	A	G	9: 21,679,073	M1333V	probably benign	Het
Smc4	A	G	3: 69,025,828	D54G	probably damaging	Het
Spag5	T	A	11: 78,304,617	V250E	possibly damaging	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Suv39h2	T	A	2: 3,464,259		probably benign	Het
Taar8b	T	A	10: 24,092,107	H63L	probably damaging	Het
Tex2	G	A	11: 106,544,315	Q264*	probably null	Het
Thnsl2	A	C	6: 71,138,756	S156A	probably benign	Het
Tmtc4	G	T	14: 122,925,954		probably benign	Het
Usp25	T	C	16: 77,093,678	L758P	probably benign	Het
Zfyve1	G	A	12: 83,552,507	R144C	probably damaging	Het
Zpld1	A	G	16: 55,251,770	V42A	probably damaging	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
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
R4194:H2-Eb2	UTSW	17	34333326	missense	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

Posted On

2013-11-05