Mutagenetix > Incidental Mutation

Incidental Mutation 'R1679:H2-Q10'

188371

Institutional Source

Beutler Lab

Gene Symbol

H2-Q10

Ensembl Gene

ENSMUSG00000067235

Gene Name

histocompatibility 2, Q region locus 10

Synonyms

H-2Q10, Q10, Qa10

MMRRC Submission

039715-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35780986-35785460 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 35784492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068291] [ENSMUST00000174525]

AlphaFold

P01898

Predicted Effect

probably benign
Transcript: ENSMUST00000068291

SMART Domains

Protein: ENSMUSP00000066419
Gene: ENSMUSG00000067235

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
Pfam:MHC_I	25	203	5.8e-98	PFAM
IGc1	222	293	8.23e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174525

SMART Domains

Protein: ENSMUSP00000134163
Gene: ENSMUSG00000067235

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
Pfam:MHC_I	25	203	3.3e-99	PFAM
IGc1	222	293	8.23e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174589

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (51/52)

MGI Phenotype

PHENOTYPE: Unlike other class I genes, this gene is expressed only in liver cells and its product is secreted into the serum. The amount of protein in serum varies among inbred strains with different H2 haplotypes and is completely absent in the H2f strain B10.M. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
Adam6a	A	G	12: 113,508,376 (GRCm39)	M250V	probably benign	Het
Adgre5	C	A	8: 84,456,034 (GRCm39)	R254L	probably benign	Het
Adgrv1	A	T	13: 81,707,671 (GRCm39)	L525Q	probably damaging	Het
Ano9	T	A	7: 140,688,210 (GRCm39)	I205F	probably benign	Het
Bmp5	T	C	9: 75,746,877 (GRCm39)	V245A	probably benign	Het
Capn8	T	C	1: 182,441,032 (GRCm39)	S489P	probably damaging	Het
Ccdc85a	A	G	11: 28,533,316 (GRCm39)	L76P	probably damaging	Het
Cd164l2	A	G	4: 132,948,810 (GRCm39)	T49A	probably benign	Het
Cdc25c	T	C	18: 34,880,348 (GRCm39)	T129A	probably damaging	Het
Cfap43	T	C	19: 47,761,553 (GRCm39)	D847G	probably benign	Het
Crim1	G	A	17: 78,508,228 (GRCm39)	A11T	probably benign	Het
Cul9	A	T	17: 46,832,082 (GRCm39)	L1449H	possibly damaging	Het
Cyp2a22	T	A	7: 26,635,736 (GRCm39)	K276*	probably null	Het
Cyp2c50	C	A	19: 40,099,859 (GRCm39)	T430K	possibly damaging	Het
Ddb2	C	T	2: 91,064,595 (GRCm39)	R105Q	probably benign	Het
Emilin1	T	C	5: 31,077,543 (GRCm39)	Y900H	probably benign	Het
Eml3	T	C	19: 8,914,001 (GRCm39)	F100L	probably damaging	Het
Eps8l2	G	A	7: 140,940,970 (GRCm39)	G542D	probably damaging	Het
Fbf1	A	G	11: 116,041,843 (GRCm39)		probably null	Het
Gm21886	T	C	18: 80,132,954 (GRCm39)	Y68C	probably damaging	Het
Hebp2	G	T	10: 18,420,163 (GRCm39)	T90K	possibly damaging	Het
Il1rl2	A	G	1: 40,382,320 (GRCm39)	T211A	probably benign	Het
Incenp	T	C	19: 9,872,778 (GRCm39)	D16G	unknown	Het
Isg20l2	T	A	3: 87,839,392 (GRCm39)	M201K	probably damaging	Het
Kansl1	A	T	11: 104,314,822 (GRCm39)	S405R	probably damaging	Het
Kdsr	T	A	1: 106,680,956 (GRCm39)	I81F	probably benign	Het
Leprotl1	T	G	8: 34,607,986 (GRCm39)	L7F	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mtmr2	T	A	9: 13,700,373 (GRCm39)	I60K	probably damaging	Het
Mto1	A	G	9: 78,372,245 (GRCm39)	T572A	probably benign	Het
Nipbl	G	A	15: 8,332,396 (GRCm39)	T2287I	probably benign	Het
Nutm2	A	G	13: 50,623,422 (GRCm39)	T40A	probably benign	Het
Nxf1	T	C	19: 8,746,438 (GRCm39)	S550P	probably benign	Het
Or5p4	A	T	7: 107,680,859 (GRCm39)	N286I	probably damaging	Het
Phactr1	G	A	13: 43,210,756 (GRCm39)	V193I	possibly damaging	Het
Phactr1	A	T	13: 43,248,257 (GRCm39)	Y317F	possibly damaging	Het
Pih1d1	T	C	7: 44,809,250 (GRCm39)		probably null	Het
Rictor	T	C	15: 6,797,571 (GRCm39)	I309T	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ruvbl2	T	C	7: 45,074,391 (GRCm39)	D216G	probably damaging	Het
Slc20a2	T	G	8: 23,028,846 (GRCm39)	S106A	possibly damaging	Het
Srprb	A	G	9: 103,069,406 (GRCm39)		probably benign	Het
Stx11	A	T	10: 12,817,580 (GRCm39)	I48N	probably damaging	Het
Vmn1r29	A	T	6: 58,285,003 (GRCm39)	Y241F	probably damaging	Het
Wdfy1	A	T	1: 79,685,192 (GRCm39)	C347*	probably null	Het
Zfp683	T	C	4: 133,785,956 (GRCm39)	V361A	possibly damaging	Het

Other mutations in H2-Q10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01893:H2-Q10	APN	17	35,784,168 (GRCm39)	missense	probably damaging	1.00
IGL02003:H2-Q10	APN	17	35,781,338 (GRCm39)	missense	probably benign	0.01
IGL02308:H2-Q10	APN	17	35,784,463 (GRCm39)	makesense	probably null
IGL02804:H2-Q10	APN	17	35,784,147 (GRCm39)	missense	probably damaging	1.00
gomez	UTSW	17	35,784,917 (GRCm39)	utr 3 prime	probably benign
lurch	UTSW	17	35,781,915 (GRCm39)	missense	possibly damaging	0.92
R0278:H2-Q10	UTSW	17	35,784,204 (GRCm39)	missense	possibly damaging	0.83
R1919:H2-Q10	UTSW	17	35,781,385 (GRCm39)	missense	probably damaging	1.00
R3781:H2-Q10	UTSW	17	35,781,915 (GRCm39)	missense	possibly damaging	0.92
R3782:H2-Q10	UTSW	17	35,781,915 (GRCm39)	missense	possibly damaging	0.92
R4614:H2-Q10	UTSW	17	35,784,917 (GRCm39)	utr 3 prime	probably benign
R4814:H2-Q10	UTSW	17	35,784,481 (GRCm39)	utr 3 prime	probably benign
R4870:H2-Q10	UTSW	17	35,781,357 (GRCm39)	missense	probably damaging	1.00
R6063:H2-Q10	UTSW	17	35,781,026 (GRCm39)	missense	probably benign	0.13
R7448:H2-Q10	UTSW	17	35,784,457 (GRCm39)	missense	not run
R7728:H2-Q10	UTSW	17	35,781,735 (GRCm39)	missense	probably damaging	0.98
R8034:H2-Q10	UTSW	17	35,781,338 (GRCm39)	missense	probably damaging	1.00
R8172:H2-Q10	UTSW	17	35,781,996 (GRCm39)	missense	probably null	1.00
R8233:H2-Q10	UTSW	17	35,781,983 (GRCm39)	missense	probably benign	0.28
R8400:H2-Q10	UTSW	17	35,781,374 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTCTTGGGAAGGAGCAGAATTAC -3'
(R):5'- ACATCTCCAGCTTCACTGCAATGTC -3'

Sequencing Primer
(F):5'- ACATGCCATGTGTACCATGAG -3'
(R):5'- TCACTGCAATGTCCCCAGG -3'

Posted On

2014-05-09