Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03278:H2-M10.6'

415477

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M10.6

Ensembl Gene

ENSMUSG00000037130

Gene Name

histocompatibility 2, M region locus 10.6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

IGL03278

Quality Score

Status

Chromosome

Chromosomal Location

37123067-37126458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37124715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 211 (H211N)

Ref Sequence

ENSEMBL: ENSMUSP00000039908 (fasta)

Gene Model

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

AlphaFold

Q85ZW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000041398
AA Change: H211N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039908
Gene: ENSMUSG00000037130
AA Change: H211N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,205,599 (GRCm39)		probably benign	Het
Acss2	A	G	2: 155,403,921 (GRCm39)	D676G	possibly damaging	Het
Antxr1	A	G	6: 87,181,439 (GRCm39)		probably benign	Het
Ccdc134	C	T	15: 82,015,682 (GRCm39)	A54V	possibly damaging	Het
Ccdc40	A	T	11: 119,133,336 (GRCm39)	I465F	probably damaging	Het
Cdk5rap1	A	T	2: 154,212,622 (GRCm39)	S79T	probably benign	Het
Col6a6	T	C	9: 105,586,651 (GRCm39)	E1790G	probably benign	Het
Cops8	C	A	1: 90,532,087 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,536,124 (GRCm39)	T2640A	probably benign	Het
F2	G	A	2: 91,465,527 (GRCm39)	A86V	probably benign	Het
Fhip1b	C	A	7: 105,034,331 (GRCm39)	M433I	possibly damaging	Het
Gabrb1	T	G	5: 72,026,939 (GRCm39)	D113E	probably damaging	Het
Git2	C	A	5: 114,883,640 (GRCm39)		probably benign	Het
Git2	A	T	5: 114,883,641 (GRCm39)		probably null	Het
Gm4847	A	T	1: 166,462,605 (GRCm39)	I295N	probably benign	Het
Hmgcr	A	G	13: 96,793,270 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,934,882 (GRCm39)		probably benign	Het
Lrguk	A	G	6: 34,093,381 (GRCm39)	E634G	possibly damaging	Het
Nanog	A	G	6: 122,688,704 (GRCm39)	Y95C	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nfe2l1	C	A	11: 96,713,018 (GRCm39)	R55L	probably benign	Het
Or1f19	C	T	16: 3,410,971 (GRCm39)	A237V	possibly damaging	Het
Pkmyt1	A	G	17: 23,953,221 (GRCm39)	E259G	probably damaging	Het
Pld4	A	G	12: 112,733,165 (GRCm39)	N247S	probably damaging	Het
Prdm4	A	T	10: 85,743,622 (GRCm39)	M211K	probably damaging	Het
Rab37	A	C	11: 115,050,517 (GRCm39)	I121L	possibly damaging	Het
Rabl6	T	C	2: 25,473,834 (GRCm39)		probably benign	Het
Slc34a3	A	T	2: 25,122,059 (GRCm39)	V154E	probably benign	Het
Slc38a9	T	G	13: 112,826,052 (GRCm39)		probably benign	Het
Sptlc3	G	A	2: 139,431,579 (GRCm39)	G367D	probably damaging	Het
Stk24	T	C	14: 121,540,182 (GRCm39)	K139R	possibly damaging	Het
Tacc2	T	C	7: 130,335,298 (GRCm39)		probably null	Het
Tap1	A	T	17: 34,410,457 (GRCm39)	K378M	probably damaging	Het
Tfr2	A	T	5: 137,569,298 (GRCm39)	R10*	probably null	Het
Trim38	A	G	13: 23,974,979 (GRCm39)	D306G	possibly damaging	Het
Ttc6	A	T	12: 57,668,812 (GRCm39)	K418I	probably damaging	Het
Ush2a	T	A	1: 188,581,313 (GRCm39)	L3731Q	probably damaging	Het
Vmn2r89	A	T	14: 51,692,557 (GRCm39)	Y120F	probably damaging	Het
Vps35	A	T	8: 86,021,590 (GRCm39)		probably benign	Het

Other mutations in H2-M10.6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:H2-M10.6	APN	17	37,123,112 (GRCm39)	missense	probably benign	0.13
IGL01590:H2-M10.6	APN	17	37,123,641 (GRCm39)	missense	probably benign	0.05
IGL03200:H2-M10.6	APN	17	37,124,908 (GRCm39)	missense	probably damaging	1.00
R0018:H2-M10.6	UTSW	17	37,124,941 (GRCm39)	missense	probably damaging	1.00
R0144:H2-M10.6	UTSW	17	37,123,133 (GRCm39)	missense	probably damaging	0.99
R0194:H2-M10.6	UTSW	17	37,124,934 (GRCm39)	missense	probably damaging	1.00
R1168:H2-M10.6	UTSW	17	37,124,052 (GRCm39)	missense	probably benign
R1757:H2-M10.6	UTSW	17	37,124,043 (GRCm39)	missense	probably benign	0.00
R1773:H2-M10.6	UTSW	17	37,123,076 (GRCm39)	missense	probably benign	0.00
R2029:H2-M10.6	UTSW	17	37,124,799 (GRCm39)	missense	possibly damaging	0.47
R3409:H2-M10.6	UTSW	17	37,124,893 (GRCm39)	missense	probably damaging	1.00
R3856:H2-M10.6	UTSW	17	37,123,396 (GRCm39)	missense	probably benign	0.18
R4373:H2-M10.6	UTSW	17	37,123,958 (GRCm39)	missense	probably damaging	1.00
R4869:H2-M10.6	UTSW	17	37,123,425 (GRCm39)	missense	probably benign	0.04
R5684:H2-M10.6	UTSW	17	37,124,746 (GRCm39)	missense	probably damaging	1.00
R6020:H2-M10.6	UTSW	17	37,123,959 (GRCm39)	missense	probably damaging	1.00
R6180:H2-M10.6	UTSW	17	37,125,178 (GRCm39)	missense	probably damaging	1.00
R6328:H2-M10.6	UTSW	17	37,124,836 (GRCm39)	missense	probably damaging	0.96
R8245:H2-M10.6	UTSW	17	37,124,155 (GRCm39)	critical splice donor site	probably null
R9687:H2-M10.6	UTSW	17	37,125,147 (GRCm39)	missense	probably benign	0.01
R9705:H2-M10.6	UTSW	17	37,123,642 (GRCm39)	missense	probably benign	0.09

Posted On

2016-08-02