Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01590:H2-M10.6'

91562

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: 0.049) question?

Stock #

IGL01590

Quality Score

Status

Chromosome

Chromosomal Location

37123067-37126458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37123641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 112 (N112D)

Ref Sequence

ENSEMBL: ENSMUSP00000039908 (fasta)

Gene Model

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

AlphaFold

Q85ZW5

Predicted Effect

probably benign
Transcript: ENSMUST00000041398
AA Change: N112D

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000039908
Gene: ENSMUSG00000037130
AA Change: N112D

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,482,590 (GRCm39)		probably benign	Het
Adgrb2	T	G	4: 129,907,606 (GRCm39)		probably benign	Het
Apcs	C	T	1: 172,722,034 (GRCm39)	G104D	probably damaging	Het
Atp10b	G	A	11: 43,063,548 (GRCm39)	R161H	probably benign	Het
Cep250	A	T	2: 155,834,237 (GRCm39)	Q2054L	possibly damaging	Het
Dennd6a	T	G	14: 26,340,507 (GRCm39)	V207G	probably benign	Het
Ehbp1	C	A	11: 22,045,611 (GRCm39)	D688Y	possibly damaging	Het
Fam83a	C	A	15: 57,873,173 (GRCm39)	S334Y	probably damaging	Het
Fam83e	T	A	7: 45,373,360 (GRCm39)	F242Y	probably null	Het
Fnip1	A	T	11: 54,384,126 (GRCm39)	D341V	probably damaging	Het
Gpatch3	A	G	4: 133,308,028 (GRCm39)		probably benign	Het
Gpc2	C	A	5: 138,272,640 (GRCm39)	V558F	probably damaging	Het
Hs6st1	A	T	1: 36,142,785 (GRCm39)	D240V	probably damaging	Het
Inpp5f	T	A	7: 128,266,031 (GRCm39)		probably null	Het
Itga8	G	T	2: 12,165,144 (GRCm39)	H822N	probably damaging	Het
Kif20b	T	A	19: 34,932,126 (GRCm39)	N1263K	possibly damaging	Het
Krt28	A	G	11: 99,265,220 (GRCm39)		probably null	Het
Muc5ac	A	T	7: 141,352,630 (GRCm39)	M706L	probably benign	Het
Or1j12	A	T	2: 36,343,004 (GRCm39)	M136L	probably benign	Het
Or52h9	A	C	7: 104,202,782 (GRCm39)	I219L	probably benign	Het
Prox2	A	G	12: 85,134,845 (GRCm39)	W479R	probably damaging	Het
Rps19	A	T	7: 24,587,881 (GRCm39)	D152V	probably damaging	Het
Slc20a1	G	A	2: 129,051,146 (GRCm39)		probably benign	Het
Slc7a2	C	T	8: 41,367,137 (GRCm39)	P564S	probably damaging	Het
Slco1a5	C	A	6: 142,196,045 (GRCm39)	M319I	probably benign	Het
Spmip2	A	C	3: 79,356,647 (GRCm39)	N150T	probably damaging	Het
Spopfm3	G	A	3: 94,105,674 (GRCm39)		probably benign	Het
Tanc1	A	G	2: 59,615,817 (GRCm39)	T275A	probably benign	Het
Tenm3	A	G	8: 48,681,837 (GRCm39)	S2598P	probably damaging	Het
Tiparp	G	A	3: 65,439,397 (GRCm39)	E56K	probably benign	Het
Trpm5	G	A	7: 142,636,471 (GRCm39)	R489C	probably damaging	Het
Vmn2r84	C	A	10: 130,221,964 (GRCm39)	G752V	probably damaging	Het
Wnt5b	T	A	6: 119,417,515 (GRCm39)	T130S	possibly damaging	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
IGL03200:H2-M10.6	APN	17	37,124,908 (GRCm39)	missense	probably damaging	1.00
IGL03278:H2-M10.6	APN	17	37,124,715 (GRCm39)	missense	probably damaging	0.99
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

2013-12-09