Mutagenetix > Incidental Mutation

Incidental Mutation 'R5618:H2-Q4'

439671

Institutional Source

Beutler Lab

Gene Symbol

H2-Q4

Ensembl Gene

ENSMUSG00000035929

Gene Name

histocompatibility 2, Q region locus 4

Synonyms

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

MMRRC Submission

043277-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5618 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35598593-35603650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35598901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 57 (F57Y)

Ref Sequence

ENSEMBL: ENSMUSP00000080159 (fasta)

Gene Model

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

AlphaFold

Q8HWB2

Predicted Effect

probably damaging
Transcript: ENSMUST00000081435
AA Change: F57Y

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

SMART Domains

Protein: ENSMUSP00000080159
Gene: ENSMUSG00000035929
AA Change: F57Y

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	G	A	5: 107,696,065 (GRCm39)	W167*	probably null	Het
Acvr1	C	T	2: 58,352,955 (GRCm39)	R335Q	probably damaging	Het
Atg7	A	G	6: 114,650,660 (GRCm39)	D67G	probably damaging	Het
Avil	T	C	10: 126,846,446 (GRCm39)	F417S	possibly damaging	Het
AW551984	A	T	9: 39,502,000 (GRCm39)	L702Q	probably damaging	Het
Bcl7a	A	T	5: 123,499,265 (GRCm39)	N95Y	probably damaging	Het
Cblb	A	G	16: 51,973,031 (GRCm39)	D454G	possibly damaging	Het
Cc2d2a	A	T	5: 43,887,249 (GRCm39)	Q1226H	probably benign	Het
Cct5	A	G	15: 31,598,161 (GRCm39)	S13P	possibly damaging	Het
Clca3a1	C	T	3: 144,710,738 (GRCm39)	E822K	probably benign	Het
Csgalnact2	A	T	6: 118,103,277 (GRCm39)	D228E	probably damaging	Het
Defb12	A	T	8: 19,164,814 (GRCm39)	M8K	possibly damaging	Het
Dipk1b	T	C	2: 26,524,887 (GRCm39)	S96P	probably damaging	Het
Dysf	A	G	6: 84,083,806 (GRCm39)	D736G	probably benign	Het
Exog	G	T	9: 119,291,817 (GRCm39)	D365Y	probably damaging	Het
Fam222b	T	G	11: 78,045,066 (GRCm39)	V81G	probably benign	Het
Fbl	A	G	7: 27,878,411 (GRCm39)	E301G	probably damaging	Het
Fez1	A	T	9: 36,755,228 (GRCm39)	N76Y	probably damaging	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Ift88	T	C	14: 57,718,965 (GRCm39)	I650T	possibly damaging	Het
Kif1b	A	T	4: 149,354,346 (GRCm39)	D231E	possibly damaging	Het
Lig4	A	T	8: 10,022,021 (GRCm39)	D586E	probably benign	Het
Mlc1	C	A	15: 88,858,769 (GRCm39)	L126F	probably damaging	Het
Muc4	A	G	16: 32,754,253 (GRCm38)	T1376A	probably benign	Het
Ncoa6	A	T	2: 155,279,817 (GRCm39)	D66E	possibly damaging	Het
Or6ae1	A	G	7: 139,742,185 (GRCm39)	V226A	probably damaging	Het
Or8b44	C	T	9: 38,410,036 (GRCm39)	Q24*	probably null	Het
Pard6a	T	C	8: 106,429,546 (GRCm39)	V168A	probably damaging	Het
Pmpcb	A	G	5: 21,947,786 (GRCm39)	N163S	possibly damaging	Het
Pramel27	A	T	4: 143,577,263 (GRCm39)	E15V	possibly damaging	Het
Prdm2	C	T	4: 142,860,107 (GRCm39)	C1061Y	probably benign	Het
Prkdc	A	G	16: 15,627,476 (GRCm39)	Y3378C	probably damaging	Het
Sema6a	A	T	18: 47,415,015 (GRCm39)	V425E	probably damaging	Het
Sema7a	A	T	9: 57,867,566 (GRCm39)	E439D	possibly damaging	Het
Serpinf1	T	A	11: 75,301,010 (GRCm39)	T402S	possibly damaging	Het
Sf3a2	T	C	10: 80,640,410 (GRCm39)		probably benign	Het
Skic3	T	A	13: 76,321,545 (GRCm39)	S1346T	probably benign	Het
Smchd1	A	T	17: 71,762,722 (GRCm39)	D172E	probably damaging	Het
Spag5	T	G	11: 78,194,906 (GRCm39)	I71S	probably benign	Het
Spata31d1d	G	A	13: 59,874,214 (GRCm39)	A1107V	probably benign	Het
Svep1	A	C	4: 58,070,537 (GRCm39)	S2416R	probably benign	Het
Tbc1d9	A	G	8: 83,969,221 (GRCm39)	Y503C	probably damaging	Het
Tlr9	A	T	9: 106,101,938 (GRCm39)	I410F	possibly damaging	Het
Tmem87a	C	A	2: 120,199,787 (GRCm39)	L452F	probably benign	Het
Tmprss11d	A	T	5: 86,454,154 (GRCm39)	M217K	probably benign	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Vmn2r80	T	C	10: 78,984,755 (GRCm39)	Y36H	probably benign	Het
Vmn2r87	A	T	10: 130,315,817 (GRCm39)	F83Y	probably damaging	Het
Vmp1	C	T	11: 86,554,388 (GRCm39)	R75H	probably benign	Het
Wapl	T	A	14: 34,413,863 (GRCm39)	Y242N	possibly damaging	Het
Zfp473	T	A	7: 44,391,156 (GRCm39)	D6V	probably benign	Het

Other mutations in H2-Q4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:H2-Q4	APN	17	35,601,834 (GRCm39)	missense	probably damaging	1.00
IGL01341:H2-Q4	APN	17	35,601,978 (GRCm39)	missense	probably damaging	1.00
IGL01538:H2-Q4	APN	17	35,602,288 (GRCm39)	missense	probably benign	0.03
IGL03258:H2-Q4	APN	17	35,599,095 (GRCm39)	missense	probably benign	0.29
FR4304:H2-Q4	UTSW	17	35,599,381 (GRCm39)	missense	probably damaging	1.00
FR4340:H2-Q4	UTSW	17	35,599,381 (GRCm39)	missense	probably damaging	1.00
FR4342:H2-Q4	UTSW	17	35,599,381 (GRCm39)	missense	probably damaging	1.00
FR4589:H2-Q4	UTSW	17	35,599,381 (GRCm39)	missense	probably damaging	1.00
LCD18:H2-Q4	UTSW	17	35,599,381 (GRCm39)	missense	probably damaging	1.00
R1655:H2-Q4	UTSW	17	35,601,881 (GRCm39)	missense	probably damaging	1.00
R1887:H2-Q4	UTSW	17	35,599,113 (GRCm39)	missense	possibly damaging	0.94
R2013:H2-Q4	UTSW	17	35,599,526 (GRCm39)	missense	probably damaging	1.00
R2073:H2-Q4	UTSW	17	35,599,378 (GRCm39)	missense	possibly damaging	0.61
R2403:H2-Q4	UTSW	17	35,598,973 (GRCm39)	missense	probably damaging	0.99
R3813:H2-Q4	UTSW	17	35,602,071 (GRCm39)	missense	possibly damaging	0.79
R3928:H2-Q4	UTSW	17	35,598,666 (GRCm39)	missense	unknown
R5076:H2-Q4	UTSW	17	35,599,417 (GRCm39)	missense	probably damaging	1.00
R5096:H2-Q4	UTSW	17	35,598,689 (GRCm39)	splice site	probably benign
R5252:H2-Q4	UTSW	17	35,599,411 (GRCm39)	missense	probably benign	0.00
R5318:H2-Q4	UTSW	17	35,602,287 (GRCm39)	missense	possibly damaging	0.48
R6648:H2-Q4	UTSW	17	35,601,981 (GRCm39)	missense	probably damaging	1.00
R7351:H2-Q4	UTSW	17	35,601,854 (GRCm39)	missense	possibly damaging	0.65
R7846:H2-Q4	UTSW	17	35,599,134 (GRCm39)	missense	probably damaging	0.99
R9047:H2-Q4	UTSW	17	35,598,969 (GRCm39)	missense	possibly damaging	0.86
R9258:H2-Q4	UTSW	17	35,599,105 (GRCm39)	missense	probably benign	0.03
R9352:H2-Q4	UTSW	17	35,601,909 (GRCm39)	missense	probably damaging	1.00
R9706:H2-Q4	UTSW	17	35,599,129 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATGCTGCTTCTGCTGGTG -3'
(R):5'- AATCTGCTCATTGCCCTTGG -3'

Sequencing Primer
(F):5'- AGACCCTGATCGAGATCCG -3'
(R):5'- GGCTTTCTGTGTTTCCCGC -3'

Posted On

2016-11-08