Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01562:H2-M10.5'

90863

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M10.5

Ensembl Gene

ENSMUSG00000037246

Gene Name

histocompatibility 2, M region locus 10.5

Synonyms

6.9H

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01562

Quality Score

Status

Chromosome

Chromosomal Location

37083802-37087126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37084668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 131 (S131G)

Ref Sequence

ENSEMBL: ENSMUSP00000047766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041531]

AlphaFold

Q85ZW7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041531
AA Change: S131G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047766
Gene: ENSMUSG00000037246
AA Change: S131G

Domain	Start	End	E-Value	Type
Pfam:MHC_I	24	202	8.6e-44	PFAM
IGc1	221	292	5.56e-20	SMART
transmembrane domain	305	327	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Crym	A	G	7: 119,794,622 (GRCm39)	V199A	probably damaging	Het
Dsel	T	C	1: 111,788,049 (GRCm39)	T829A	probably benign	Het
Frg1	T	C	8: 41,869,946 (GRCm39)	K18R	possibly damaging	Het
Ift172	A	T	5: 31,424,591 (GRCm39)	I701N	probably damaging	Het
Il5ra	T	C	6: 106,708,865 (GRCm39)	I292V	probably benign	Het
Nup98	A	G	7: 101,835,125 (GRCm39)	S243P	probably damaging	Het
Pramel16	A	G	4: 143,677,435 (GRCm39)	L48S	probably damaging	Het
Ptgis	T	C	2: 167,048,750 (GRCm39)	Y422C	probably damaging	Het
Senp2	T	C	16: 21,828,437 (GRCm39)	C16R	probably damaging	Het
St7	T	A	6: 17,922,034 (GRCm39)	L411Q	probably damaging	Het
Tanc2	A	T	11: 105,670,895 (GRCm39)	Y164F	probably benign	Het
Ttc23l	T	C	15: 10,551,476 (GRCm39)		probably benign	Het
Vmn2r66	G	T	7: 84,656,495 (GRCm39)	Q174K	probably benign	Het
Wrap73	A	G	4: 154,229,794 (GRCm39)	E55G	possibly damaging	Het

Other mutations in H2-M10.5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:H2-M10.5	APN	17	37,084,227 (GRCm39)	missense	possibly damaging	0.86
IGL01878:H2-M10.5	APN	17	37,084,708 (GRCm39)	missense	probably damaging	1.00
IGL03271:H2-M10.5	APN	17	37,084,243 (GRCm39)	missense	possibly damaging	0.86
IGL03377:H2-M10.5	APN	17	37,084,377 (GRCm39)	missense	probably benign	0.11
R0555:H2-M10.5	UTSW	17	37,085,620 (GRCm39)	missense	probably damaging	1.00
R1556:H2-M10.5	UTSW	17	37,084,205 (GRCm39)	missense	probably damaging	1.00
R1815:H2-M10.5	UTSW	17	37,084,836 (GRCm39)	missense	probably damaging	1.00
R1913:H2-M10.5	UTSW	17	37,085,660 (GRCm39)	missense	probably damaging	1.00
R2420:H2-M10.5	UTSW	17	37,085,891 (GRCm39)	missense	probably benign	0.23
R2421:H2-M10.5	UTSW	17	37,085,891 (GRCm39)	missense	probably benign	0.23
R2422:H2-M10.5	UTSW	17	37,085,891 (GRCm39)	missense	probably benign	0.23
R5668:H2-M10.5	UTSW	17	37,085,473 (GRCm39)	missense	probably damaging	0.99
R7694:H2-M10.5	UTSW	17	37,084,641 (GRCm39)	missense	probably damaging	1.00
R8390:H2-M10.5	UTSW	17	37,085,487 (GRCm39)	missense	probably benign	0.10
R8441:H2-M10.5	UTSW	17	37,084,199 (GRCm39)	missense	probably benign	0.14
R8497:H2-M10.5	UTSW	17	37,084,729 (GRCm39)	missense	probably damaging	1.00
R8960:H2-M10.5	UTSW	17	37,084,770 (GRCm39)	missense	probably benign	0.23
R9016:H2-M10.5	UTSW	17	37,084,226 (GRCm39)	missense	possibly damaging	0.86

Posted On

2013-12-09