Mutagenetix > Incidental Mutation

Incidental Mutation 'R3237:H2-Q6'

259119

Institutional Source

Beutler Lab

Gene Symbol

H2-Q6

Ensembl Gene

ENSMUSG00000073409

Gene Name

histocompatibility 2, Q region locus 6

Synonyms

Qa-6, Qa6, H-2Q6, 0610037M15Rik

MMRRC Submission

040619-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

R3237 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35643826-35649031 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35644676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 155 (T155K)

Ref Sequence

ENSEMBL: ENSMUSP00000134550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113879] [ENSMUST00000174699]

AlphaFold

P79568

Predicted Effect

probably damaging
Transcript: ENSMUST00000113879
AA Change: T155K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109511
Gene: ENSMUSG00000073409
AA Change: T155K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	2.1e-92	PFAM
IGc1	219	290	7.68e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174699
AA Change: T155K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134550
Gene: ENSMUSG00000073409
AA Change: T155K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	1.1e-93	PFAM
IGc1	219	290	7.68e-23	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: This locus controls a lymph node and splenic lymphocyte antigen detected by BALB/cBy anti-ORA1-a tumor antibody. The strain distribution for presence/absence of antigen varies widely among inbred strains. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccm2	G	A	11: 6,520,090 (GRCm39)	V53I	probably benign	Het
Cd3e	G	T	9: 44,913,608 (GRCm39)	C42*	probably null	Het
Cd4	A	T	6: 124,844,633 (GRCm39)	I384N	probably benign	Het
Ceacam11	T	A	7: 17,707,379 (GRCm39)	F54L	probably benign	Het
Cfap46	A	G	7: 139,197,506 (GRCm39)	S2122P	probably damaging	Het
Clptm1	A	G	7: 19,369,271 (GRCm39)	S461P	probably damaging	Het
Dlat	T	C	9: 50,549,331 (GRCm39)	T518A	possibly damaging	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Fam181a	T	G	12: 103,282,348 (GRCm39)	C84W	possibly damaging	Het
Gask1a	C	T	9: 121,793,935 (GRCm39)	P30S	possibly damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Inpp5b	A	G	4: 124,674,279 (GRCm39)	R329G	probably benign	Het
Klrb1f	A	T	6: 129,031,306 (GRCm39)	I168L	possibly damaging	Het
Lama4	A	T	10: 38,973,175 (GRCm39)	I1581F	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lyzl4	T	C	9: 121,413,233 (GRCm39)	D65G	probably benign	Het
Med29	A	G	7: 28,092,046 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,473 (GRCm39)	D574E	possibly damaging	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Nlrp9a	A	T	7: 26,270,810 (GRCm39)	K892*	probably null	Het
Nsd1	T	A	13: 55,460,701 (GRCm39)	H2309Q	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Optn	T	C	2: 5,039,014 (GRCm39)	S370G	probably damaging	Het
Pbrm1	T	C	14: 30,754,432 (GRCm39)	F151L	probably damaging	Het
Plekhs1	A	T	19: 56,453,032 (GRCm39)		probably null	Het
Rpn1	A	G	6: 88,080,396 (GRCm39)	K565R	probably benign	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr1	C	T	7: 28,769,075 (GRCm39)		probably null	Het
Scai	C	T	2: 39,040,326 (GRCm39)		probably benign	Het
Scap	C	G	9: 110,208,650 (GRCm39)	P564A	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Slc41a3	T	C	6: 90,613,847 (GRCm39)	Y226H	probably benign	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Sned1	G	A	1: 93,186,725 (GRCm39)	R180Q	probably benign	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
St8sia3	T	C	18: 64,402,886 (GRCm39)	F175S	probably damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Syngap1	T	A	17: 27,176,067 (GRCm39)	Y118*	probably null	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Uba3	G	T	6: 97,163,201 (GRCm39)	T319K	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Zc3hav1	A	G	6: 38,296,650 (GRCm39)	L751S	probably damaging	Het
Zfp804b	T	C	5: 6,819,239 (GRCm39)	M1275V	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	probably damaging	Het

Other mutations in H2-Q6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02505:H2-Q6	APN	17	35,644,152 (GRCm39)	missense	probably benign	0.06
PIT4508001:H2-Q6	UTSW	17	35,644,796 (GRCm39)	missense	probably damaging	1.00
R0499:H2-Q6	UTSW	17	35,644,179 (GRCm39)	missense	probably damaging	0.98
R2426:H2-Q6	UTSW	17	35,643,913 (GRCm39)	missense	probably benign	0.06
R3236:H2-Q6	UTSW	17	35,644,676 (GRCm39)	missense	probably damaging	0.99
R3810:H2-Q6	UTSW	17	35,644,757 (GRCm39)	missense	probably damaging	1.00
R3827:H2-Q6	UTSW	17	35,644,655 (GRCm39)	missense	probably damaging	1.00
R3932:H2-Q6	UTSW	17	35,644,542 (GRCm39)	splice site	probably benign
R4030:H2-Q6	UTSW	17	35,644,792 (GRCm39)	missense	probably benign	0.00
R4529:H2-Q6	UTSW	17	35,644,820 (GRCm39)	missense	probably null	1.00
R4558:H2-Q6	UTSW	17	35,647,291 (GRCm39)	missense	probably benign	0.00
R5100:H2-Q6	UTSW	17	35,644,296 (GRCm39)	missense	probably benign	0.00
R5435:H2-Q6	UTSW	17	35,644,661 (GRCm39)	missense	probably damaging	1.00
R5455:H2-Q6	UTSW	17	35,643,860 (GRCm39)	missense	unknown
R5724:H2-Q6	UTSW	17	35,644,628 (GRCm39)	missense	probably damaging	1.00
R6383:H2-Q6	UTSW	17	35,647,359 (GRCm39)	critical splice donor site	probably null
R6752:H2-Q6	UTSW	17	35,647,103 (GRCm39)	missense	probably damaging	0.96
R6853:H2-Q6	UTSW	17	35,647,335 (GRCm39)	makesense	probably null
R7421:H2-Q6	UTSW	17	35,644,204 (GRCm39)	missense	possibly damaging	0.94
R7558:H2-Q6	UTSW	17	35,644,595 (GRCm39)	missense	probably benign
R7762:H2-Q6	UTSW	17	35,647,077 (GRCm39)	missense	probably benign	0.01
R9224:H2-Q6	UTSW	17	35,644,309 (GRCm39)	missense	probably benign	0.01
R9631:H2-Q6	UTSW	17	35,644,292 (GRCm39)	missense	probably benign	0.01
R9654:H2-Q6	UTSW	17	35,644,185 (GRCm39)	missense	probably damaging	1.00
R9658:H2-Q6	UTSW	17	35,644,185 (GRCm39)	missense	probably damaging	1.00
R9662:H2-Q6	UTSW	17	35,644,185 (GRCm39)	missense	probably damaging	1.00
X0057:H2-Q6	UTSW	17	35,644,569 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTTCAGTTTGGAGGAGTCC -3'
(R):5'- AGGGTTTCTTCTTCCCCAGGAC -3'

Sequencing Primer
(F):5'- GAGGAGTCCGCGGTGGG -3'
(R):5'- TCTTCCCCAGGACTGAGC -3'

Posted On

2015-01-23