Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03356:H2-DMb1'

419968

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-DMb1

Ensembl Gene

ENSMUSG00000079547

Gene Name

histocompatibility 2, class II, locus Mb1

Synonyms

H2-M beta1, H2-Mb1, H-2Mb1

Accession Numbers

Essential gene?

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

Stock #

IGL03356

Quality Score

Status

Chromosome

Chromosomal Location

34372165-34379203 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 34376514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114232]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000114232

SMART Domains

Protein: ENSMUSP00000109870
Gene: ENSMUSG00000079547

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
MHC_II_beta	27	105	3.45e-23	SMART
IGc1	130	202	9.6e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174765

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	C	15: 60,791,737 (GRCm39)	M233R	probably benign	Het
Aadat	T	C	8: 60,984,725 (GRCm39)	M256T	probably damaging	Het
Adamts16	T	C	13: 70,901,410 (GRCm39)	N889S	probably benign	Het
Camkk2	A	T	5: 122,881,937 (GRCm39)	I235N	probably damaging	Het
Card6	C	T	15: 5,129,723 (GRCm39)	A558T	probably benign	Het
Ccdc175	T	G	12: 72,186,667 (GRCm39)		probably null	Het
Crot	A	G	5: 9,038,295 (GRCm39)		probably benign	Het
Cyp2c67	A	G	19: 39,628,405 (GRCm39)	S180P	probably damaging	Het
Ddx55	A	G	5: 124,692,816 (GRCm39)	N81S	possibly damaging	Het
Dennd3	C	T	15: 73,440,482 (GRCm39)	T1171M	probably benign	Het
Dnah7a	T	C	1: 53,543,093 (GRCm39)	D2359G	probably benign	Het
Dpp8	T	A	9: 64,953,069 (GRCm39)	N248K	probably benign	Het
Ganc	T	C	2: 120,265,769 (GRCm39)	I439T	probably benign	Het
Gdpgp1	T	C	7: 79,888,443 (GRCm39)	I158T	possibly damaging	Het
Grm3	T	C	5: 9,562,206 (GRCm39)	D548G	possibly damaging	Het
Hecw2	A	G	1: 53,966,217 (GRCm39)		probably benign	Het
Hs3st2	A	G	7: 120,992,389 (GRCm39)	E113G	probably damaging	Het
Hspa4	C	A	11: 53,160,627 (GRCm39)	R483L	probably damaging	Het
Ik	C	A	18: 36,889,657 (GRCm39)	S490R	probably damaging	Het
Ldlrad1	G	A	4: 107,072,035 (GRCm39)	V86M	possibly damaging	Het
Mfsd4b1	A	C	10: 39,878,827 (GRCm39)	F357V	probably damaging	Het
Ndufa9	A	G	6: 126,821,813 (GRCm39)	V54A	possibly damaging	Het
Nfe2l2	A	G	2: 75,509,544 (GRCm39)	I92T	probably benign	Het
Oas1a	A	G	5: 121,043,908 (GRCm39)	S75P	probably damaging	Het
Oca2	T	G	7: 56,185,716 (GRCm39)	M814R	probably benign	Het
Phlpp2	A	G	8: 110,662,249 (GRCm39)	T879A	probably benign	Het
Potefam3e	A	G	8: 19,799,463 (GRCm39)	I304V	probably benign	Het
Rpe65	A	T	3: 159,321,214 (GRCm39)	Y342F	possibly damaging	Het
Satb2	T	C	1: 56,930,333 (GRCm39)	K230R	probably damaging	Het
Slc4a4	A	G	5: 89,270,342 (GRCm39)	T297A	probably benign	Het
Slpi	T	C	2: 164,198,129 (GRCm39)	T22A	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Synj1	A	G	16: 90,784,280 (GRCm39)	F286S	probably damaging	Het
Tektl1	A	G	10: 78,582,966 (GRCm39)	C473R	possibly damaging	Het
Tigd2	T	A	6: 59,188,690 (GRCm39)	I519K	probably benign	Het
Tyr	G	T	7: 87,141,922 (GRCm39)	L136I	possibly damaging	Het
Vmn1r34	A	T	6: 66,613,970 (GRCm39)	M256K	probably benign	Het
Zmym2	T	A	14: 57,194,517 (GRCm39)	C1258*	probably null	Het

Other mutations in H2-DMb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0374:H2-DMb1	UTSW	17	34,378,399 (GRCm39)	missense	probably benign	0.08
R0436:H2-DMb1	UTSW	17	34,378,630 (GRCm39)	missense	probably damaging	1.00
R0454:H2-DMb1	UTSW	17	34,374,685 (GRCm39)	missense	probably benign	0.32
R0850:H2-DMb1	UTSW	17	34,374,536 (GRCm39)	missense	probably benign	0.00
R2355:H2-DMb1	UTSW	17	34,376,289 (GRCm39)	missense	probably damaging	1.00
R4211:H2-DMb1	UTSW	17	34,374,547 (GRCm39)	missense	possibly damaging	0.87
R5786:H2-DMb1	UTSW	17	34,372,408 (GRCm39)	missense	possibly damaging	0.73
R6125:H2-DMb1	UTSW	17	34,376,439 (GRCm39)	missense	probably damaging	1.00
R6313:H2-DMb1	UTSW	17	34,376,506 (GRCm39)	critical splice donor site	probably null
R6385:H2-DMb1	UTSW	17	34,374,576 (GRCm39)	missense	probably benign	0.00
R6993:H2-DMb1	UTSW	17	34,376,324 (GRCm39)	missense	possibly damaging	0.95
R7207:H2-DMb1	UTSW	17	34,376,490 (GRCm39)	missense	probably damaging	0.99
R7324:H2-DMb1	UTSW	17	34,378,436 (GRCm39)	critical splice donor site	probably null
R8084:H2-DMb1	UTSW	17	34,376,327 (GRCm39)	missense	probably damaging	1.00
R8116:H2-DMb1	UTSW	17	34,374,443 (GRCm39)	missense	probably damaging	1.00
RF015:H2-DMb1	UTSW	17	34,374,476 (GRCm39)	missense	probably damaging	1.00
RF016:H2-DMb1	UTSW	17	34,376,360 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02