Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03406:H2-Q2'

421603

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-Q2

Ensembl Gene

ENSMUSG00000091705

Gene Name

histocompatibility 2, Q region locus 2

Synonyms

H-2Q2, Gm11132

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

35342242-35346762 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35342825 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 97 (V97A)

Ref Sequence

ENSEMBL: ENSMUSP00000078138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074806]

Predicted Effect

probably benign
Transcript: ENSMUST00000074806
AA Change: V97A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705
AA Change: V97A

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:MHC_I	22	200	2.4e-90	PFAM
IGc1	219	290	4.05e-22	SMART
low complexity region	306	325	N/A	INTRINSIC
Pfam:MHC_I_C	334	358	1.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173115

SMART Domains

Protein: ENSMUSP00000133989
Gene: ENSMUSG00000091705

Domain	Start	End	E-Value	Type
SCOP:d1hdma1	2	19	5e-6	SMART
low complexity region	22	41	N/A	INTRINSIC
Pfam:MHC_I_C	50	74	1.5e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012P22Rik	A	G	4: 144,423,844	Y56H	probably damaging	Het
A530016L24Rik	T	A	12: 112,496,883		probably null	Het
Adcy7	C	T	8: 88,318,319	R228*	probably null	Het
Cdcp1	T	C	9: 123,185,313	H132R	probably benign	Het
Cyp4a32	T	C	4: 115,602,303	I78T	probably benign	Het
Fap	A	T	2: 62,542,122		probably benign	Het
Gad1-ps	C	T	10: 99,444,779		noncoding transcript	Het
Gli3	T	C	13: 15,648,581	I296T	probably damaging	Het
Hr	T	A	14: 70,563,420		probably null	Het
Itgax	C	T	7: 128,149,198	T1133I	possibly damaging	Het
L3mbtl2	G	A	15: 81,681,993	R339H	probably damaging	Het
Mast4	T	C	13: 102,737,107	K1726E	possibly damaging	Het
Nlrc5	T	C	8: 94,476,855	Y528H	probably benign	Het
Nmnat3	G	A	9: 98,399,477	G44D	probably damaging	Het
Nol8	A	T	13: 49,661,568	D366V	probably damaging	Het
Olfr539	C	A	7: 140,667,511	L68M	probably damaging	Het
Pde4d	A	T	13: 109,954,591		probably benign	Het
Ptpn22	C	A	3: 103,912,016	N795K	probably benign	Het
Rabgap1l	A	T	1: 160,722,169	V289D	probably damaging	Het
Slc50a1	T	C	3: 89,270,101	D40G	possibly damaging	Het
Slco6b1	T	C	1: 96,947,585		noncoding transcript	Het
Smarcad1	T	A	6: 65,092,526	F530Y	probably damaging	Het
Spag6	A	G	2: 18,742,873		probably benign	Het
Supt16	A	T	14: 52,178,141	I379N	possibly damaging	Het
Tmem154	A	G	3: 84,684,260	N39S	probably benign	Het
Ubash3b	T	A	9: 41,037,479	Y180F	probably damaging	Het
Usp48	T	A	4: 137,639,295	D921E	possibly damaging	Het
Zdhhc20	T	C	14: 57,839,099	T366A	probably benign	Het
Zfp456	A	T	13: 67,366,331	C419S	probably damaging	Het
Zfp69	T	C	4: 120,931,084	T345A	probably benign	Het

Other mutations in H2-Q2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:H2-Q2	APN	17	35342849	missense	probably damaging	1.00
IGL01148:H2-Q2	APN	17	35342678	missense	probably damaging	1.00
IGL02081:H2-Q2	APN	17	35342708	missense	probably damaging	1.00
R0145:H2-Q2	UTSW	17	35345176	missense	probably benign	0.24
R0646:H2-Q2	UTSW	17	35345685	missense	probably damaging	1.00
R1889:H2-Q2	UTSW	17	35345176	missense	probably benign	0.24
R2055:H2-Q2	UTSW	17	35345271	missense	probably benign	0.00
R2152:H2-Q2	UTSW	17	35345276	critical splice donor site	probably null
R3898:H2-Q2	UTSW	17	35342767	missense	probably damaging	1.00
R4710:H2-Q2	UTSW	17	35343302	missense	probably damaging	1.00
R5267:H2-Q2	UTSW	17	35343179	missense	probably benign	0.21
R5302:H2-Q2	UTSW	17	35344909	missense	probably damaging	1.00
R6134:H2-Q2	UTSW	17	35343241	missense	probably damaging	0.98
R6453:H2-Q2	UTSW	17	35344895	missense	probably benign	0.07
R6633:H2-Q2	UTSW	17	35342387	missense	probably damaging	0.98
R6979:H2-Q2	UTSW	17	35345647	splice site	probably null
R8248:H2-Q2	UTSW	17	35344865	missense	probably benign
R8306:H2-Q2	UTSW	17	35342325	unclassified	probably benign
R8714:H2-Q2	UTSW	17	35343362	missense	possibly damaging	0.92
Z1176:H2-Q2	UTSW	17	35345675	missense	probably damaging	1.00
Z1177:H2-Q2	UTSW	17	35342342	missense	unknown

Posted On

2016-08-02