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

Is this an essential gene?

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

Stock #

IGL03278

Quality Score

Status

Chromosome

Chromosomal Location

36812171-36815564 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36813823 bp (GRCm38)

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: 71,158,825		probably benign	Het
Acss2	A	G	2: 155,562,001	D676G	possibly damaging	Het
Antxr1	A	G	6: 87,204,457		probably benign	Het
Ccdc134	C	T	15: 82,131,481	A54V	possibly damaging	Het
Ccdc40	A	T	11: 119,242,510	I465F	probably damaging	Het
Cdk5rap1	A	T	2: 154,370,702	S79T	probably benign	Het
Col6a6	T	C	9: 105,709,452	E1790G	probably benign	Het
Cops8	C	A	1: 90,604,365		probably null	Het
Dnah7a	T	C	1: 53,496,965	T2640A	probably benign	Het
F2	G	A	2: 91,635,182	A86V	probably benign	Het
Fam160a2	C	A	7: 105,385,124	M433I	possibly damaging	Het
Gabrb1	T	G	5: 71,869,596	D113E	probably damaging	Het
Git2	C	A	5: 114,745,579		probably benign	Het
Git2	A	T	5: 114,745,580		probably null	Het
Gm4847	A	T	1: 166,635,036	I295N	probably benign	Het
Hmgcr	A	G	13: 96,656,762		probably benign	Het
Larp1	T	C	11: 58,044,056		probably benign	Het
Lrguk	A	G	6: 34,116,446	E634G	possibly damaging	Het
Nanog	A	G	6: 122,711,745	Y95C	probably damaging	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Nfe2l1	C	A	11: 96,822,192	R55L	probably benign	Het
Olfr161	C	T	16: 3,593,107	A237V	possibly damaging	Het
Pkmyt1	A	G	17: 23,734,247	E259G	probably damaging	Het
Pld4	A	G	12: 112,766,731	N247S	probably damaging	Het
Prdm4	A	T	10: 85,907,758	M211K	probably damaging	Het
Rab37	A	C	11: 115,159,691	I121L	possibly damaging	Het
Rabl6	T	C	2: 25,583,822		probably benign	Het
Slc34a3	A	T	2: 25,232,047	V154E	probably benign	Het
Slc38a9	T	G	13: 112,689,518		probably benign	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stk24	T	C	14: 121,302,770	K139R	possibly damaging	Het
Tacc2	T	C	7: 130,733,568		probably null	Het
Tap1	A	T	17: 34,191,483	K378M	probably damaging	Het
Tfr2	A	T	5: 137,571,036	R10*	probably null	Het
Trim38	A	G	13: 23,790,996	D306G	possibly damaging	Het
Ttc6	A	T	12: 57,622,026	K418I	probably damaging	Het
Ush2a	T	A	1: 188,849,116	L3731Q	probably damaging	Het
Vmn2r89	A	T	14: 51,455,100	Y120F	probably damaging	Het
Vps35	A	T	8: 85,294,961		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
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
R3409:H2-M10.6	UTSW	17	36814001	missense	probably damaging	1.00
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

Posted On

2016-08-02