Mutagenetix > Incidental Mutations

Incidental Mutation 'R3813:H2-Q4'

274174

Institutional Source

Beutler Lab

Gene Symbol

H2-Q4

Ensembl Gene

ENSMUSG00000035929

Gene Name

histocompatibility 2, Q region locus 4

Synonyms

H2-Gs10, Qa-4, Qb1, Qb-1, H-2Q4, Qa4, Qat-4

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R3813 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35379617-35385290 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35383095 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 311 (H311R)

Ref Sequence

ENSEMBL: ENSMUSP00000080159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081435]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081435
AA Change: H311R

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080159
Gene: ENSMUSG00000035929
AA Change: H311R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	50	228	1.7e-93	PFAM
IGc1	247	318	8.55e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173975

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: This locus controls an antigen on peripheral T-cells of spleen, lymph node and bone marrow, but not on thymocytes. Strain distribution patterns vary by assay, measuring presence/absence of antigen, protein acidic/basic qualities and molecular polymorphisms. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	A	T	11: 101,991,488	R106S	probably benign	Het
Adamts3	T	C	5: 89,677,926	D1018G	possibly damaging	Het
Adgrg1	T	A	8: 95,011,565	L562Q	probably benign	Het
Ankrd11	T	C	8: 122,891,378	T1891A	probably benign	Het
Arid2	A	G	15: 96,369,950	N648S	probably benign	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Cacna1s	A	T	1: 136,085,347	I312F	probably damaging	Het
Cenpj	A	G	14: 56,553,222	S457P	probably benign	Het
Cep120	G	A	18: 53,740,212		probably benign	Het
Cfap70	T	A	14: 20,421,122	I493L	possibly damaging	Het
Csmd3	T	C	15: 48,791,813	D31G	possibly damaging	Het
Cstf3	T	C	2: 104,609,121	Y54H	probably damaging	Het
Cubn	T	A	2: 13,294,325	Y3179F	probably damaging	Het
Cyp2s1	C	T	7: 25,805,866		probably null	Het
Dll4	C	A	2: 119,331,029	T364N	possibly damaging	Het
Doc2g	C	T	19: 4,004,466		probably null	Het
Etl4	A	G	2: 20,788,435	E657G	probably damaging	Het
Fhdc1	A	G	3: 84,464,270		probably null	Het
Fndc1	T	C	17: 7,773,322	H514R	unknown	Het
Gpat3	A	G	5: 100,891,639		probably benign	Het
Hipk4	T	C	7: 27,523,947	L144S	probably damaging	Het
Hspa4	G	A	11: 53,270,979	P449S	probably benign	Het
Kif7	A	G	7: 79,713,890	V90A	probably damaging	Het
Klhl38	T	C	15: 58,322,557	I259V	probably benign	Het
Krt9	T	A	11: 100,189,677	E414D	probably damaging	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lrp2	G	A	2: 69,464,579	P3465L	probably damaging	Het
Lrriq1	T	C	10: 103,216,111	E260G	probably damaging	Het
Macf1	A	G	4: 123,374,767	S4689P	probably damaging	Het
Manba	G	A	3: 135,563,262	E643K	possibly damaging	Het
Mc3r	T	A	2: 172,248,879	L7Q	probably benign	Het
Mdga1	G	A	17: 29,838,479	P788S	probably damaging	Het
Olfr1161	T	C	2: 88,024,761	F13S	probably damaging	Het
Olfr814	T	A	10: 129,873,986	Y257F	probably damaging	Het
Pcdh12	G	A	18: 38,283,614	R153*	probably null	Het
Plk3	T	C	4: 117,133,450	Y89C	probably damaging	Het
Prss41	G	A	17: 23,837,622	R160*	probably null	Het
Rae1	T	A	2: 173,006,873		probably benign	Het
Rbm17	T	A	2: 11,595,435		probably benign	Het
Recql4	A	T	15: 76,704,494	M1039K	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
Slit3	A	G	11: 35,675,979	Y1026C	probably damaging	Het
Tbl2	T	A	5: 135,156,521		probably null	Het
Tex2	G	A	11: 106,511,944	T1034I	unknown	Het
Tmem241	A	T	18: 12,067,110		probably benign	Het
Tmtc1	T	C	6: 148,354,891		probably benign	Het
Trappc9	A	T	15: 73,058,393	I38N	probably damaging	Het
Trmt1	T	A	8: 84,695,217		probably benign	Het
Vps37d	G	A	5: 135,074,450	Q113*	probably null	Het
Zufsp	T	C	10: 33,940,222	E242G	possibly damaging	Het

Other mutations in H2-Q4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:H2-Q4	APN	17	35382858	missense	probably damaging	1.00
IGL01341:H2-Q4	APN	17	35383002	missense	probably damaging	1.00
IGL01538:H2-Q4	APN	17	35383312	missense	probably benign	0.03
IGL03258:H2-Q4	APN	17	35380119	missense	probably benign	0.29
FR4304:H2-Q4	UTSW	17	35380405	missense	probably damaging	1.00
FR4340:H2-Q4	UTSW	17	35380405	missense	probably damaging	1.00
FR4342:H2-Q4	UTSW	17	35380405	missense	probably damaging	1.00
FR4589:H2-Q4	UTSW	17	35380405	missense	probably damaging	1.00
LCD18:H2-Q4	UTSW	17	35380405	missense	probably damaging	1.00
R1655:H2-Q4	UTSW	17	35382905	missense	probably damaging	1.00
R1887:H2-Q4	UTSW	17	35380137	missense	possibly damaging	0.94
R2013:H2-Q4	UTSW	17	35380550	missense	probably damaging	1.00
R2073:H2-Q4	UTSW	17	35380402	missense	possibly damaging	0.61
R2403:H2-Q4	UTSW	17	35379997	missense	probably damaging	0.99
R3928:H2-Q4	UTSW	17	35379690	missense	unknown
R5076:H2-Q4	UTSW	17	35380441	missense	probably damaging	1.00
R5096:H2-Q4	UTSW	17	35379713	splice site	probably benign
R5252:H2-Q4	UTSW	17	35380435	missense	probably benign	0.00
R5318:H2-Q4	UTSW	17	35383311	missense	possibly damaging	0.48
R5618:H2-Q4	UTSW	17	35379925	missense	probably damaging	1.00
R6648:H2-Q4	UTSW	17	35383005	missense	probably damaging	1.00
R7351:H2-Q4	UTSW	17	35382878	missense	possibly damaging	0.65
R7846:H2-Q4	UTSW	17	35380158	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGATCTGACGGTGATGTCAC -3'
(R):5'- GTTCGCCATGTTGGAGACAG -3'

Sequencing Primer
(F):5'- TGAGGTGCTGGGCCCTG -3'
(R):5'- CCATGTTGGAGACAGTGGATG -3'

Posted On

2015-04-02