Mutagenetix > Incidental Mutation

Incidental Mutation 'R7351:H2-Q4'

570601

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

045437-MU

Accession Numbers

Essential gene?

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

Stock #

R7351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35598593-35603650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35601854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 239 (T239A)

Ref Sequence

ENSEMBL: ENSMUSP00000080159 (fasta)

Gene Model

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

AlphaFold

Q8HWB2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081435
AA Change: T239A

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080159
Gene: ENSMUSG00000035929
AA Change: T239A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,206,159 (GRCm39)	G343V	probably damaging	Het
Adamts6	G	A	13: 104,526,620 (GRCm39)	S516N	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Arhgef37	T	A	18: 61,631,286 (GRCm39)	L566F	possibly damaging	Het
AU040320	A	G	4: 126,710,237 (GRCm39)	N328D	probably damaging	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Brk1	T	C	6: 113,592,742 (GRCm39)	S42P	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Cenpo	A	T	12: 4,266,581 (GRCm39)	F176I	probably damaging	Het
Cfap97d1	A	G	11: 101,882,331 (GRCm39)	E163G	probably benign	Het
Clec12b	A	G	6: 129,356,874 (GRCm39)		probably null	Het
Ddx42	A	G	11: 106,138,508 (GRCm39)	N769S	probably benign	Het
Drc7	A	G	8: 95,785,135 (GRCm39)	D165G	probably benign	Het
Dync2h1	A	T	9: 7,167,145 (GRCm39)	I486N	probably damaging	Het
Gmip	A	G	8: 70,270,034 (GRCm39)	D679G	probably benign	Het
Gml2	T	C	15: 74,693,225 (GRCm39)	V76A	possibly damaging	Het
Gpr26	T	C	7: 131,576,094 (GRCm39)	C253R	probably damaging	Het
Hmcn1	T	A	1: 150,543,640 (GRCm39)	Y2845F	probably damaging	Het
Ift172	A	G	5: 31,433,240 (GRCm39)	Y550H	probably damaging	Het
Irgm2	G	A	11: 58,110,431 (GRCm39)	V41M	possibly damaging	Het
Lrp2	C	T	2: 69,278,486 (GRCm39)	G3956R	probably damaging	Het
Matn2	G	A	15: 34,345,482 (GRCm39)	R163H	probably damaging	Het
Mxd1	A	G	6: 86,628,448 (GRCm39)	S151P	probably damaging	Het
Or10ak16	T	C	4: 118,751,033 (GRCm39)	V251A	probably benign	Het
Or4a73	C	T	2: 89,420,857 (GRCm39)	G201S	probably benign	Het
Or5m10b	G	T	2: 85,694,415 (GRCm39)		probably benign	Het
Or8b3	C	T	9: 38,314,739 (GRCm39)	L190F	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plcg2	A	G	8: 118,317,049 (GRCm39)	E642G	possibly damaging	Het
Pramel6	T	A	2: 87,340,672 (GRCm39)	F335I	probably benign	Het
Psd	G	T	19: 46,310,869 (GRCm39)	S393R	probably benign	Het
Pwwp2a	A	G	11: 43,573,107 (GRCm39)	D63G	probably benign	Het
Rbm28	T	C	6: 29,158,879 (GRCm39)	T139A	probably benign	Het
Ripk2	T	G	4: 16,155,048 (GRCm39)	E157A	probably damaging	Het
Rnf145	G	A	11: 44,439,623 (GRCm39)	V140I	possibly damaging	Het
Rnf38	T	C	4: 44,149,102 (GRCm39)	N114D	probably benign	Het
Samd9l	G	A	6: 3,374,157 (GRCm39)	R1035C	probably benign	Het
Sec14l3	A	G	11: 4,024,785 (GRCm39)	T245A	probably benign	Het
Serpina10	A	T	12: 103,595,194 (GRCm39)	F8L	probably benign	Het
Slc16a8	T	A	15: 79,137,841 (GRCm39)	D56V	probably damaging	Het
Spag9	A	T	11: 93,983,802 (GRCm39)	E726D	probably benign	Het
Spg11	A	G	2: 121,900,412 (GRCm39)	F1547L	possibly damaging	Het
Sspo	T	C	6: 48,441,855 (GRCm39)	I1955T	possibly damaging	Het
Stx18	T	A	5: 38,196,755 (GRCm39)	V27E	probably benign	Het
Taf1c	A	G	8: 120,325,739 (GRCm39)	S708P	probably damaging	Het
Tas2r126	T	C	6: 42,412,240 (GRCm39)	F258L	probably benign	Het
Tdpoz2	C	T	3: 93,559,900 (GRCm39)	W24*	probably null	Het
Tmc8	T	C	11: 117,674,654 (GRCm39)	L123P	probably damaging	Het
Trmo	A	T	4: 46,387,716 (GRCm39)	Y35N	possibly damaging	Het
Ttn	C	T	2: 76,598,030 (GRCm39)	V19628I	possibly damaging	Het
Ttn	G	A	2: 76,770,274 (GRCm39)	A2685V	unknown	Het
Usp15	A	T	10: 122,968,904 (GRCm39)	M349K	probably damaging	Het
Vmn2r89	A	G	14: 51,693,739 (GRCm39)	N363S	probably benign	Het
Vwa3a	T	A	7: 120,375,559 (GRCm39)	I423N	probably damaging	Het
Zfp592	T	C	7: 80,691,439 (GRCm39)	V1206A	probably benign	Het
Zfp866	A	T	8: 70,218,547 (GRCm39)	Y358N	probably damaging	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
R5618:H2-Q4	UTSW	17	35,598,901 (GRCm39)	missense	probably damaging	1.00
R6648:H2-Q4	UTSW	17	35,601,981 (GRCm39)	missense	probably damaging	1.00
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'- AACTGTGCCTTGTGTAGATTTCAG -3'
(R):5'- GATGCCCACTTCTGGAAGGTTC -3'

Sequencing Primer
(F):5'- TGGAACTCACATTGTGGACC -3'
(R):5'- AAGGTTCCATCCCCTGAAGG -3'

Posted On

2019-09-13