Mutagenetix > Incidental Mutations

Incidental Mutation 'R4870:H2-Q10'

376534

Institutional Source

Beutler Lab

Gene Symbol

H2-Q10

Ensembl Gene

ENSMUSG00000067235

Gene Name

histocompatibility 2, Q region locus 10

Synonyms

H-2Q10, Qa10, Q10

MMRRC Submission

042480-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35470089-35474563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35470460 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 53 (D53V)

Ref Sequence

ENSEMBL: ENSMUSP00000134163 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000068291
AA Change: D53V

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

SMART Domains

Protein: ENSMUSP00000066419
Gene: ENSMUSG00000067235
AA Change: D53V

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 damaging
Transcript: ENSMUST00000174525
AA Change: D53V

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

SMART Domains

Protein: ENSMUSP00000134163
Gene: ENSMUSG00000067235
AA Change: D53V

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

0.4387

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	C	A	7: 34,284,887	V104L	possibly damaging	Het
Abcb11	A	T	2: 69,239,196	I1285N	probably damaging	Het
Abcc8	G	A	7: 46,107,259	R721*	probably null	Het
Alox8	T	C	11: 69,186,568	Y423C	probably damaging	Het
Ankle2	T	A	5: 110,251,478		probably null	Het
Cdc14a	A	G	3: 116,423,460	I9T	probably benign	Het
Ceacam18	T	C	7: 43,641,904	C257R	probably damaging	Het
Cilp	T	C	9: 65,279,698	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,153,565		probably benign	Het
Csnk1d	A	T	11: 120,983,188		probably benign	Het
Cyp11b2	A	G	15: 74,853,146	S285P	probably benign	Het
Dip2b	T	A	15: 100,195,784		probably null	Het
Dmrt1	T	A	19: 25,505,855	M1K	probably null	Het
Dnajc14	T	C	10: 128,817,350	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,670,364	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,495,192	C772S	unknown	Het
F2rl1	A	T	13: 95,513,984	F130Y	probably damaging	Het
Galk2	C	G	2: 125,929,637	S194*	probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gpbp1l1	A	G	4: 116,573,517	T62A	probably benign	Het
H2-T22	T	C	17: 36,039,032	K356R	probably benign	Het
Insrr	G	A	3: 87,811,604	V956M	probably damaging	Het
Ints7	A	G	1: 191,596,331	T239A	probably damaging	Het
Isl1	A	G	13: 116,308,270		probably benign	Het
Kcng2	A	G	18: 80,322,868	C90R	probably benign	Het
Kif3c	C	T	12: 3,401,735	P171S	probably damaging	Het
Knl1	A	G	2: 119,081,513	T1704A	probably benign	Het
Lats1	A	G	10: 7,705,785	Y778C	probably damaging	Het
Limd2	T	C	11: 106,159,389	M1V	probably null	Het
Mcm10	A	T	2: 5,004,159	I333N	probably damaging	Het
Mipep	T	A	14: 60,802,880	L283*	probably null	Het
Mixl1	A	G	1: 180,694,672	S215P	probably benign	Het
Mmp21	A	G	7: 133,678,677	L188P	probably damaging	Het
Mob1a	T	C	6: 83,340,239	S213P	probably benign	Het
Ndufaf6	T	C	4: 11,060,917	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651	Y135F	possibly damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026		probably benign	Het
Obscn	A	T	11: 59,136,206	L57Q	probably damaging	Het
Olfr1161	T	C	2: 88,025,460	L246P	probably damaging	Het
Olfr603	T	A	7: 103,383,633	D123V	probably damaging	Het
Pirb	T	A	7: 3,712,662	M839L	probably benign	Het
Plcl2	A	G	17: 50,607,226	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,949,033	N99S	probably benign	Het
Ptpro	A	G	6: 137,377,132	K169E	probably damaging	Het
Rita1	T	A	5: 120,611,383	K88N	probably damaging	Het
Rptn	A	T	3: 93,396,469	K370*	probably null	Het
Simc1	A	G	13: 54,539,763	D115G	probably null	Het
Stab1	T	A	14: 31,142,043	N136I	probably benign	Het
Syt4	T	A	18: 31,447,356		probably benign	Het
Sytl2	A	T	7: 90,388,898	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,729,493		probably benign	Het
Tenm2	A	T	11: 36,078,569	D847E	probably damaging	Het
Th	G	T	7: 142,894,097	D321E	probably benign	Het
Tmem44	A	T	16: 30,540,773	L46Q	probably damaging	Het
Trp53bp1	A	G	2: 121,256,641	L178P	probably damaging	Het
Trp63	A	G	16: 25,866,218	*285W	probably null	Het
Tsen34	T	C	7: 3,694,381		probably benign	Het
Tssk4	C	T	14: 55,651,815	T256I	probably benign	Het
Ttc17	A	T	2: 94,366,609	N464K	probably damaging	Het
Ttll2	C	T	17: 7,351,599	V310I	probably benign	Het
Ubn1	A	G	16: 5,077,313	E741G	probably damaging	Het
Urad	T	A	5: 147,315,454	I63F	probably damaging	Het
Vcan	T	C	13: 89,704,739	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,837,215	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,411,585	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,241,725	R478*	probably null	Het
Znfx1	A	C	2: 167,055,269	F578L	probably benign	Het

Other mutations in H2-Q10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01893:H2-Q10	APN	17	35473271	missense	probably damaging	1.00
IGL02003:H2-Q10	APN	17	35470441	missense	probably benign	0.01
IGL02308:H2-Q10	APN	17	35473566	makesense	probably null
IGL02804:H2-Q10	APN	17	35473250	missense	probably damaging	1.00
gomez	UTSW	17	35474020	utr 3 prime	probably benign
lurch	UTSW	17	35471018	missense	possibly damaging	0.92
R0278:H2-Q10	UTSW	17	35473307	missense	possibly damaging	0.83
R1679:H2-Q10	UTSW	17	35473595	utr 3 prime	probably benign
R1919:H2-Q10	UTSW	17	35470488	missense	probably damaging	1.00
R3781:H2-Q10	UTSW	17	35471018	missense	possibly damaging	0.92
R3782:H2-Q10	UTSW	17	35471018	missense	possibly damaging	0.92
R4614:H2-Q10	UTSW	17	35474020	utr 3 prime	probably benign
R4814:H2-Q10	UTSW	17	35473584	utr 3 prime	probably benign
R6063:H2-Q10	UTSW	17	35470129	missense	probably benign	0.13
R7448:H2-Q10	UTSW	17	35473560	missense	not run
R7728:H2-Q10	UTSW	17	35470838	missense	probably damaging	0.98
R8034:H2-Q10	UTSW	17	35470441	missense	probably damaging	1.00
R8172:H2-Q10	UTSW	17	35471099	missense	probably null	1.00
R8233:H2-Q10	UTSW	17	35471086	missense	probably benign	0.28
R8400:H2-Q10	UTSW	17	35470477	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACAGCTTCTGCAGAGAGG -3'
(R):5'- TCTGGTTGTAGTAGCCGAGC -3'

Sequencing Primer
(F):5'- TTCTGCAGAGAGGGGCGG -3'
(R):5'- CAGGGTCCTCAGGCTCACATG -3'

Posted On

2016-03-17