Mutagenetix > Incidental Mutation

Incidental Mutation 'R7520:H2-Q7'

582648

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

045592-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R7520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35658131-35662749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35661686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 310 (T310A)

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 benign
Transcript: ENSMUST00000071951
AA Change: T310A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000071843
Gene: ENSMUSG00000060550
AA Change: T310A

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 benign
Transcript: ENSMUST00000076256
AA Change: T307A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000075606
Gene: ENSMUSG00000060550
AA Change: T307A

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 benign
Transcript: ENSMUST00000078205

SMART Domains

Protein: ENSMUSP00000077335
Gene: ENSMUSG00000060550

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 benign
Transcript: ENSMUST00000116598

SMART Domains

Protein: ENSMUSP00000112297
Gene: ENSMUSG00000060550

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	C	4: 144,281,859 (GRCm39)	Y311C	probably damaging	Het
Abca1	A	T	4: 53,078,114 (GRCm39)	I886N	probably benign	Het
Adamts6	A	G	13: 104,433,694 (GRCm39)	H41R	probably benign	Het
Adck1	T	C	12: 88,425,975 (GRCm39)		probably null	Het
Atat1	G	T	17: 36,208,706 (GRCm39)	T398K	probably benign	Het
Bahcc1	A	G	11: 120,167,031 (GRCm39)	E1144G	possibly damaging	Het
Cand2	G	T	6: 115,762,212 (GRCm39)	E213*	probably null	Het
Cep350	A	G	1: 155,791,375 (GRCm39)	S1250P	probably benign	Het
Cln3	A	G	7: 126,180,852 (GRCm39)	L63P	probably damaging	Het
Col4a4	A	T	1: 82,484,808 (GRCm39)	C486*	probably null	Het
Ctnnal1	A	T	4: 56,837,838 (GRCm39)	M264K	probably damaging	Het
Ddr2	T	A	1: 169,812,008 (GRCm39)	D738V	probably damaging	Het
Dnah6	T	C	6: 73,104,887 (GRCm39)	M1901V	probably benign	Het
Dnhd1	A	G	7: 105,345,255 (GRCm39)	T2200A	probably benign	Het
Dolk	A	G	2: 30,174,555 (GRCm39)	Y497H	probably benign	Het
Drd5	T	C	5: 38,478,195 (GRCm39)	V396A	probably benign	Het
Epsti1	A	T	14: 78,200,883 (GRCm39)		probably null	Het
Erich3	A	G	3: 154,468,763 (GRCm39)	T1072A	unknown	Het
Ero1a	A	T	14: 45,544,032 (GRCm39)	N57K	probably damaging	Het
Exph5	T	C	9: 53,278,514 (GRCm39)		probably null	Het
Frmd5	C	T	2: 121,384,745 (GRCm39)		probably null	Het
Hecw2	G	T	1: 53,965,215 (GRCm39)	A537E	probably benign	Het
Itga4	A	T	2: 79,131,333 (GRCm39)	D567V	probably damaging	Het
Kcnu1	A	T	8: 26,375,368 (GRCm39)	N361Y	probably damaging	Het
Keap1	A	G	9: 21,144,787 (GRCm39)	S408P	probably benign	Het
Mamdc4	T	A	2: 25,455,360 (GRCm39)	I928F	possibly damaging	Het
Mboat4	T	C	8: 34,591,028 (GRCm39)	F155S	probably benign	Het
Mtbp	A	G	15: 55,440,742 (GRCm39)		probably benign	Het
Nmi	T	G	2: 51,842,492 (GRCm39)	K200T	probably benign	Het
Or2n1e	G	A	17: 38,586,331 (GRCm39)	C223Y	probably benign	Het
Or8g19	G	T	9: 39,055,414 (GRCm39)	R6L	probably benign	Het
Pcdha7	G	A	18: 37,108,366 (GRCm39)	V464M	probably damaging	Het
Peg10	T	A	6: 4,756,796 (GRCm39)	N457K	unknown	Het
Plekha7	A	T	7: 115,736,519 (GRCm39)	I944N	possibly damaging	Het
Plpp1	T	A	13: 112,937,781 (GRCm39)	D13E	possibly damaging	Het
Pnpla6	G	T	8: 3,587,508 (GRCm39)	V1070F	probably damaging	Het
Riox1	T	A	12: 83,998,545 (GRCm39)	Y360*	probably null	Het
Sdhb	A	G	4: 140,693,882 (GRCm39)	D50G	possibly damaging	Het
Slc35f2	T	A	9: 53,708,385 (GRCm39)	V126D	possibly damaging	Het
Slmap	A	G	14: 26,148,575 (GRCm39)	V612A	probably benign	Het
Snap91	T	A	9: 86,721,702 (GRCm39)	I46F	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Taar7b	T	C	10: 23,876,381 (GRCm39)	L182P	probably damaging	Het
Tmc1	T	A	19: 20,776,542 (GRCm39)	M606L	probably damaging	Het
Trpm8	T	A	1: 88,271,043 (GRCm39)	D444E	probably benign	Het
Tsen54	A	G	11: 115,711,797 (GRCm39)	T405A	probably damaging	Het
Ttll5	T	C	12: 85,946,245 (GRCm39)	W492R	probably damaging	Het
Ttn	T	A	2: 76,728,123 (GRCm39)	T5566S	unknown	Het
Utp20	A	T	10: 88,654,457 (GRCm39)	M210K	probably damaging	Het
Zfand1	A	G	3: 10,411,009 (GRCm39)	V115A	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
R7086:H2-Q7	UTSW	17	35,658,461 (GRCm39)	missense	probably damaging	1.00
R7303:H2-Q7	UTSW	17	35,659,037 (GRCm39)	missense	probably benign	0.13
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'- ATGTGAACCATGAGGGGCTG -3'
(R):5'- TTCCCAGAACTGACAGAGGACC -3'

Sequencing Primer
(F):5'- TGAGCCCCTTACCCTGAGATG -3'
(R):5'- CTGACAGAGGACCCAGTTG -3'

Posted On

2019-10-17