Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03127:H2-M9'

410184

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M9

Ensembl Gene

ENSMUSG00000067201

Gene Name

histocompatibility 2, M region locus 9

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL03127

Quality Score

Status

Chromosome

Chromosomal Location

36639285-36642666 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36640822 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 254 (V254M)

Ref Sequence

ENSEMBL: ENSMUSP00000084411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087165] [ENSMUST00000087167]

AlphaFold

O19442

Predicted Effect

probably benign
Transcript: ENSMUST00000087165

SMART Domains

Protein: ENSMUSP00000084409
Gene: ENSMUSG00000067201

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MHC_I	25	203	2.4e-45	PFAM
transmembrane domain	216	238	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087167
AA Change: V254M

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084411
Gene: ENSMUSG00000067201
AA Change: V254M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MHC_I	25	203	5.3e-44	PFAM
IGc1	222	293	5.73e-22	SMART
transmembrane domain	308	330	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Amdhd2	A	G	17: 24,157,738		probably null	Het
Apol7c	A	G	15: 77,525,906	M280T	probably benign	Het
Atl2	T	C	17: 79,852,854	M264V	probably damaging	Het
Ccdc141	C	T	2: 77,029,235		probably null	Het
Dtx4	T	C	19: 12,486,500		probably benign	Het
Dyrk4	G	A	6: 126,897,171	T152I	possibly damaging	Het
F5	T	A	1: 164,193,538	I1194N	probably benign	Het
Gadl1	C	T	9: 115,948,664	T126M	probably damaging	Het
Gcnt7	A	T	2: 172,454,411	C110*	probably null	Het
Hadha	A	T	5: 30,134,186		probably benign	Het
Kit	T	C	5: 75,641,188	M621T	probably benign	Het
Krt73	T	C	15: 101,795,840	M422V	probably benign	Het
Neil2	T	C	14: 63,191,808	H12R	probably benign	Het
Nrsn1	A	G	13: 25,253,717	L76P	probably damaging	Het
Olfr1393	T	G	11: 49,280,772	V208G	possibly damaging	Het
Olfr906	C	A	9: 38,488,586	Q186K	probably benign	Het
Olfr924	T	A	9: 38,848,209	Y32N	probably damaging	Het
Pot1a	G	A	6: 25,794,616	A23V	probably benign	Het
Ppp1r14d	A	G	2: 119,218,360	*147Q	probably null	Het
Ptger2	T	C	14: 45,002,005		probably benign	Het
Syne3	A	T	12: 104,943,428	D716E	probably benign	Het
Tbc1d9	A	G	8: 83,249,473	N554D	probably damaging	Het
Ushbp1	T	A	8: 71,394,376	Q204L	possibly damaging	Het

Other mutations in H2-M9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01808:H2-M9	APN	17	36641819	splice site	probably null
IGL02133:H2-M9	APN	17	36641737	missense	possibly damaging	0.95
IGL02323:H2-M9	APN	17	36640741	missense	probably damaging	1.00
IGL02957:H2-M9	APN	17	36642157	missense	probably benign	0.00
R0025:H2-M9	UTSW	17	36641755	missense	probably damaging	1.00
R0026:H2-M9	UTSW	17	36641527	splice site	probably benign
R0926:H2-M9	UTSW	17	36641773	missense	probably damaging	0.98
R1171:H2-M9	UTSW	17	36641653	missense	probably benign	0.14
R1264:H2-M9	UTSW	17	36642592	missense	probably benign
R1995:H2-M9	UTSW	17	36641786	missense	probably damaging	1.00
R4622:H2-M9	UTSW	17	36641824	splice site	probably null
R4737:H2-M9	UTSW	17	36640739	nonsense	probably null
R4808:H2-M9	UTSW	17	36640792	missense	probably damaging	0.99
R5176:H2-M9	UTSW	17	36641631	missense	probably damaging	0.98
R6756:H2-M9	UTSW	17	36642335	missense	probably damaging	1.00
R6785:H2-M9	UTSW	17	36642233	missense	probably damaging	0.99
R7216:H2-M9	UTSW	17	36640702	missense	probably benign
R7464:H2-M9	UTSW	17	36642411	splice site	probably null
R8079:H2-M9	UTSW	17	36642133	missense	probably benign	0.39
R8688:H2-M9	UTSW	17	36642142	missense	probably damaging	1.00
R9174:H2-M9	UTSW	17	36642289	missense	probably damaging	0.99
X0018:H2-M9	UTSW	17	36641722	missense	probably benign	0.01

Posted On

2016-08-02