Mutagenetix > Incidental Mutation

Incidental Mutation 'R3409:H2-M10.6'

258440

Institutional Source

Beutler Lab

Gene Symbol

H2-M10.6

Ensembl Gene

ENSMUSG00000037130

Gene Name

histocompatibility 2, M region locus 10.6

Synonyms

MMRRC Submission

040627-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R3409 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36812171-36815564 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36814001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 270 (V270E)

Ref Sequence

ENSEMBL: ENSMUSP00000039908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041398]

AlphaFold

Q85ZW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000041398
AA Change: V270E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039908
Gene: ENSMUSG00000037130
AA Change: V270E

Domain	Start	End	E-Value	Type
Pfam:MHC_I	24	202	2.2e-47	PFAM
IGc1	221	292	9.31e-22	SMART
transmembrane domain	305	327	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	G	5: 50,001,930	V326A	probably damaging	Het
AI429214	C	T	8: 36,993,917	S73L	probably benign	Het
Atp13a4	G	T	16: 29,413,749	T923K	probably damaging	Het
Ccdc150	A	G	1: 54,356,773	D805G	probably benign	Het
Ccdc185	T	G	1: 182,748,748	Q125H	possibly damaging	Het
Ccdc88a	T	A	11: 29,486,006	C10S	probably damaging	Het
Cpsf1	G	T	15: 76,601,781	Y396*	probably null	Het
Dnpep	A	G	1: 75,316,626	V33A	probably damaging	Het
Fbn1	G	A	2: 125,412,665	A226V	possibly damaging	Het
Frmd4a	A	T	2: 4,153,028		probably benign	Het
Gipr	A	G	7: 19,159,794	V318A	possibly damaging	Het
Gsdmc4	A	G	15: 63,892,046	S401P	probably benign	Het
Klhl7	G	T	5: 24,138,321	V212L	probably damaging	Het
Krt10	C	A	11: 99,387,261	R322L	probably damaging	Het
Lrrn4	A	G	2: 132,879,861	L12P	unknown	Het
Mast2	C	G	4: 116,310,910	E881Q	possibly damaging	Het
Nod1	G	T	6: 54,944,917	R139S	probably benign	Het
Notch3	C	T	17: 32,150,702	V772M	possibly damaging	Het
Nrxn1	G	A	17: 90,208,367	T19M	probably damaging	Het
Nudcd1	T	C	15: 44,420,811	M60V	probably benign	Het
Olfr1151	T	A	2: 87,857,661	L162*	probably null	Het
Olfr1220	T	C	2: 89,097,324	N201S	possibly damaging	Het
Olfr1231	A	G	2: 89,303,373	F73S	probably benign	Het
Olfr1453	G	C	19: 13,028,047	A94G	probably benign	Het
Olfr1510	T	A	14: 52,410,361	R170S	possibly damaging	Het
Olfr25	T	A	9: 38,330,344	S252R	possibly damaging	Het
Pcdhb6	A	G	18: 37,335,892	E622G	probably damaging	Het
Pitrm1	G	A	13: 6,578,481	A937T	possibly damaging	Het
Plxnb1	G	A	9: 109,106,613		probably null	Het
Ripk3	T	G	14: 55,788,241	N54T	probably damaging	Het
Rpn2	C	A	2: 157,290,652	A108E	possibly damaging	Het
Scaf11	A	G	15: 96,414,864	V1432A	probably damaging	Het
Sec14l5	C	T	16: 5,165,654		probably null	Het
Serpina3n	A	G	12: 104,411,277	E263G	possibly damaging	Het
Six4	A	G	12: 73,112,883	F101S	probably damaging	Het
Slc12a1	A	G	2: 125,154,151	T75A	probably benign	Het
Slc26a9	T	C	1: 131,763,944	S642P	probably benign	Het
Smu1	T	C	4: 40,752,008	T183A	probably benign	Het
Sptb	T	G	12: 76,610,815	K1311Q	possibly damaging	Het
Tal2	A	G	4: 53,785,843	N8S	probably damaging	Het
Tenm4	A	G	7: 96,895,160	T2128A	probably damaging	Het
Tmem67	A	T	4: 12,073,952	M288K	probably benign	Het
Ubr1	A	C	2: 120,963,448	I85S	probably benign	Het
Vmn2r90	G	T	17: 17,733,376	V601L	probably benign	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het

Other mutations in H2-M10.6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:H2-M10.6	APN	17	36812220	missense	probably benign	0.13
IGL01590:H2-M10.6	APN	17	36812749	missense	probably benign	0.05
IGL03200:H2-M10.6	APN	17	36814016	missense	probably damaging	1.00
IGL03278:H2-M10.6	APN	17	36813823	missense	probably damaging	0.99
R0018:H2-M10.6	UTSW	17	36814049	missense	probably damaging	1.00
R0144:H2-M10.6	UTSW	17	36812241	missense	probably damaging	0.99
R0194:H2-M10.6	UTSW	17	36814042	missense	probably damaging	1.00
R1168:H2-M10.6	UTSW	17	36813160	missense	probably benign
R1757:H2-M10.6	UTSW	17	36813151	missense	probably benign	0.00
R1773:H2-M10.6	UTSW	17	36812184	missense	probably benign	0.00
R2029:H2-M10.6	UTSW	17	36813907	missense	possibly damaging	0.47
R3856:H2-M10.6	UTSW	17	36812504	missense	probably benign	0.18
R4373:H2-M10.6	UTSW	17	36813066	missense	probably damaging	1.00
R4869:H2-M10.6	UTSW	17	36812533	missense	probably benign	0.04
R5684:H2-M10.6	UTSW	17	36813854	missense	probably damaging	1.00
R6020:H2-M10.6	UTSW	17	36813067	missense	probably damaging	1.00
R6180:H2-M10.6	UTSW	17	36814286	missense	probably damaging	1.00
R6328:H2-M10.6	UTSW	17	36813944	missense	probably damaging	0.96
R8245:H2-M10.6	UTSW	17	36813263	critical splice donor site	probably null
R9687:H2-M10.6	UTSW	17	36814255	missense	probably benign	0.01
R9705:H2-M10.6	UTSW	17	36812750	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGTGACCCACCATGTAAGACC -3'
(R):5'- GCCGATGAGAATTGCTATGATGG -3'

Sequencing Primer
(F):5'- CCACCATGTAAGACCTGAAGGG -3'
(R):5'- GGAGTCTGACCCTAGCTCTCAAC -3'

Posted On

2015-01-23