Mutagenetix > Incidental Mutation

Incidental Mutation 'R7086:H2-Q7'

549927

Institutional Source

Beutler Lab

Gene Symbol

H2-Q7

Ensembl Gene

ENSMUSG00000060550

Gene Name

histocompatibility 2, Q region locus 7

Synonyms

Qa7, Ped, H-2Q7, Qa-7

MMRRC Submission

045180-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.287) question?

Stock #

R7086 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

35658131-35662749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35658461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 33 (V33E)

Ref Sequence

ENSEMBL: ENSMUSP00000071843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071951] [ENSMUST00000076256] [ENSMUST00000078205] [ENSMUST00000116598]

AlphaFold

P14429

PDB Structure

crystal structure of the non-classical MHC class Ib Qa-2 complexed with a self peptide [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000071951
AA Change: V33E

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

SMART Domains

Protein: ENSMUSP00000071843
Gene: ENSMUSG00000060550
AA Change: V33E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	3e-97	PFAM
IGc1	219	290	7.68e-23	SMART
transmembrane domain	308	330	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000076256
AA Change: V33E

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

SMART Domains

Protein: ENSMUSP00000075606
Gene: ENSMUSG00000060550
AA Change: V33E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	3.3e-98	PFAM
IGc1	219	290	7.68e-23	SMART
low complexity region	310	325	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000078205
AA Change: V33E

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

SMART Domains

Protein: ENSMUSP00000077335
Gene: ENSMUSG00000060550
AA Change: V33E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	1.9e-97	PFAM
IGc1	219	290	7.68e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000116598
AA Change: V33E

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

SMART Domains

Protein: ENSMUSP00000112297
Gene: ENSMUSG00000060550
AA Change: V33E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	8.5e-98	PFAM

Meta Mutation Damage Score

0.2609

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (60/61)

MGI Phenotype

PHENOTYPE: This locus controls a widely distributed lymphocyte antigen recognized by monoclonal antibody, serology or CTL assay. Using all assays, antigen is present (allele a) in C57BL/6, DBA/1, DBA/2 and SWR and absent (allele b) in AKR, C3H and BALB/c. Other strain allele typings were assay-dependent. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,068,635 (GRCm39)	H28R	probably damaging	Het
Adgre4	T	C	17: 56,127,649 (GRCm39)	I563T	probably benign	Het
Ankub1	A	T	3: 57,597,746 (GRCm39)	C75S	probably damaging	Het
Antxrl	G	A	14: 33,787,873 (GRCm39)	V299I	probably benign	Het
Arfgef2	T	A	2: 166,718,536 (GRCm39)	C1442S	probably damaging	Het
Atp13a3	T	C	16: 30,169,881 (GRCm39)	D399G	possibly damaging	Het
Cacna2d1	T	A	5: 16,554,414 (GRCm39)	Y666N	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Cfap91	A	T	16: 38,127,219 (GRCm39)	F512L	possibly damaging	Het
Chrng	C	A	1: 87,138,735 (GRCm39)	R455S	probably benign	Het
Cimap1a	A	G	7: 140,429,402 (GRCm39)	H151R	probably benign	Het
Cluh	T	A	11: 74,558,166 (GRCm39)	H1155Q	possibly damaging	Het
Col16a1	G	A	4: 129,946,773 (GRCm39)		probably null	Het
Cpne5	G	A	17: 29,378,051 (GRCm39)	P576L	unknown	Het
Crocc	C	A	4: 140,774,368 (GRCm39)	V144L	possibly damaging	Het
Cubn	A	G	2: 13,324,669 (GRCm39)	V2781A	probably damaging	Het
Cyp8b1	A	G	9: 121,744,355 (GRCm39)	F326L	probably benign	Het
Dclk1	G	A	3: 55,395,333 (GRCm39)		probably null	Het
Dennd2b	A	G	7: 109,124,781 (GRCm39)	I1083T	probably damaging	Het
Dnah7c	A	G	1: 46,789,285 (GRCm39)	R3303G	probably benign	Het
Dnhd1	G	T	7: 105,357,739 (GRCm39)	R3191S	probably benign	Het
Fgfbp3	T	G	19: 36,896,103 (GRCm39)	S172R	possibly damaging	Het
Gpr158	G	A	2: 21,831,386 (GRCm39)	V829I	probably benign	Het
Gtse1	A	G	15: 85,759,750 (GRCm39)	D647G	probably damaging	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Kcnip1	G	T	11: 33,584,629 (GRCm39)	P175T	probably damaging	Het
Klhl10	T	C	11: 100,347,768 (GRCm39)	V608A	probably benign	Het
Klhl2	A	G	8: 65,275,664 (GRCm39)	Y80H	probably damaging	Het
Lnx2	A	T	5: 146,956,988 (GRCm39)		probably null	Het
Lst1	G	A	17: 35,404,262 (GRCm39)	H59Y	probably damaging	Het
Mphosph8	G	C	14: 56,905,980 (GRCm39)	V58L	possibly damaging	Het
Mpnd	C	A	17: 56,316,457 (GRCm39)	S45R	possibly damaging	Het
Myh8	A	G	11: 67,183,453 (GRCm39)		probably null	Het
Or12j4	A	G	7: 140,046,341 (GRCm39)	T76A	possibly damaging	Het
Or4c52	A	G	2: 89,845,594 (GRCm39)	I107V	probably benign	Het
Phox2a	A	G	7: 101,467,718 (GRCm39)	Y5C	probably damaging	Het
Pkdrej	A	G	15: 85,704,317 (GRCm39)	S540P	probably damaging	Het
Plcb4	A	G	2: 135,849,767 (GRCm39)	M1133V	probably benign	Het
Plxnc1	T	C	10: 94,667,297 (GRCm39)	M1126V	probably benign	Het
Ppm1l	A	G	3: 69,225,186 (GRCm39)	Y96C	probably damaging	Het
Prpsap1	T	C	11: 116,368,109 (GRCm39)	T234A	probably benign	Het
R3hcc1l	T	C	19: 42,570,409 (GRCm39)	V668A	probably damaging	Het
Rapgef2	A	G	3: 78,993,353 (GRCm39)	S712P	probably benign	Het
Rcc2	T	C	4: 140,435,280 (GRCm39)	C100R	probably benign	Het
Recql4	C	A	15: 76,589,753 (GRCm39)	G764V	unknown	Het
Rlbp1	A	G	7: 79,029,813 (GRCm39)	I140T	possibly damaging	Het
Samsn1	T	C	16: 75,667,794 (GRCm39)	T261A	probably benign	Het
Sgtb	T	C	13: 104,254,924 (GRCm39)	S65P	possibly damaging	Het
Spag9	T	C	11: 93,988,690 (GRCm39)	V920A	probably benign	Het
Spata31	T	A	13: 65,070,043 (GRCm39)	S730R	probably benign	Het
Spta1	C	T	1: 174,027,050 (GRCm39)	A841V	probably damaging	Het
Tnfaip1	T	C	11: 78,416,265 (GRCm39)	S273G	probably benign	Het
Vezf1	T	C	11: 87,969,364 (GRCm39)	V371A	probably benign	Het
Vmn1r67	G	A	7: 10,181,044 (GRCm39)	V103I	possibly damaging	Het
Vmn2r87	G	T	10: 130,333,178 (GRCm39)	T24K	probably benign	Het
Wdr43	G	A	17: 71,923,434 (GRCm39)	G60D	probably benign	Het
Xkr4	G	A	1: 3,287,185 (GRCm39)	T335I	probably damaging	Het
Zdhhc23	A	T	16: 43,791,873 (GRCm39)	I300N	probably damaging	Het
Zfp729b	T	C	13: 67,741,056 (GRCm39)	K403R	probably damaging	Het

Other mutations in H2-Q7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0735:H2-Q7	UTSW	17	35,659,162 (GRCm39)	critical splice donor site	probably null
R0839:H2-Q7	UTSW	17	35,658,688 (GRCm39)	missense	probably damaging	1.00
R1737:H2-Q7	UTSW	17	35,658,602 (GRCm39)	missense	probably damaging	1.00
R1831:H2-Q7	UTSW	17	35,658,675 (GRCm39)	missense	probably benign	0.00
R1832:H2-Q7	UTSW	17	35,658,675 (GRCm39)	missense	probably benign	0.00
R1833:H2-Q7	UTSW	17	35,658,675 (GRCm39)	missense	probably benign	0.00
R2047:H2-Q7	UTSW	17	35,659,123 (GRCm39)	missense	probably damaging	1.00
R4498:H2-Q7	UTSW	17	35,658,506 (GRCm39)	missense	probably damaging	1.00
R4657:H2-Q7	UTSW	17	35,661,735 (GRCm39)	missense	possibly damaging	0.86
R4784:H2-Q7	UTSW	17	35,658,914 (GRCm39)	missense	probably damaging	1.00
R5387:H2-Q7	UTSW	17	35,658,518 (GRCm39)	missense	probably damaging	1.00
R5499:H2-Q7	UTSW	17	35,658,916 (GRCm39)	nonsense	probably null
R6410:H2-Q7	UTSW	17	35,659,152 (GRCm39)	missense	probably benign	0.13
R6457:H2-Q7	UTSW	17	35,658,655 (GRCm39)	missense	probably damaging	1.00
R6720:H2-Q7	UTSW	17	35,661,654 (GRCm39)	missense	probably benign	0.05
R6943:H2-Q7	UTSW	17	35,658,560 (GRCm39)	missense	probably benign	0.30
R7069:H2-Q7	UTSW	17	35,659,007 (GRCm39)	missense	probably damaging	0.98
R7303:H2-Q7	UTSW	17	35,659,037 (GRCm39)	missense	probably benign	0.13
R7520:H2-Q7	UTSW	17	35,661,686 (GRCm39)	missense	probably benign	0.04
R7603:H2-Q7	UTSW	17	35,658,939 (GRCm39)	missense	probably damaging	1.00
R7747:H2-Q7	UTSW	17	35,659,037 (GRCm39)	missense	probably benign	0.13
R8169:H2-Q7	UTSW	17	35,658,910 (GRCm39)	nonsense	probably null
Z1177:H2-Q7	UTSW	17	35,661,476 (GRCm39)	missense	probably damaging	0.99
Z1177:H2-Q7	UTSW	17	35,658,138 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AACAATGCTGCTCTTGCTGG -3'
(R):5'- AACTCTGCTCATGGCCCTTG -3'

Sequencing Primer
(F):5'- TGACCCTGATCGAGACCC -3'
(R):5'- GCCCTTGGCGATCTGTGTC -3'

Posted On

2019-05-15