Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01448:H2-Q1'

84537

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-Q1

Ensembl Gene

ENSMUSG00000079507

Gene Name

histocompatibility 2, Q region locus 1

Synonyms

H-2Q1, Q1k, Q1d, Q1, Q1b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL01448

Quality Score

Status

Chromosome

Chromosomal Location

35539381-35544075 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 35542437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073208] [ENSMUST00000105041]

AlphaFold

O19441

Predicted Effect

probably benign
Transcript: ENSMUST00000073208

SMART Domains

Protein: ENSMUSP00000072942
Gene: ENSMUSG00000079507

Domain	Start	End	E-Value	Type
Pfam:MHC_I	22	200	4.7e-88	PFAM
IGc1	219	290	8.23e-23	SMART
transmembrane domain	306	328	N/A	INTRINSIC
Pfam:MHC_I_C	340	367	1.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105041

SMART Domains

Protein: ENSMUSP00000100662
Gene: ENSMUSG00000079507

Domain	Start	End	E-Value	Type
Pfam:MHC_I	22	200	2.3e-90	PFAM
IGc1	219	290	8.23e-23	SMART
transmembrane domain	306	328	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172994

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	T	2: 130,247,767 (GRCm39)	E75D	possibly damaging	Het
1700084J12Rik	A	G	15: 33,405,779 (GRCm39)		probably benign	Het
2610303G11Rik	T	A	9: 98,068,762 (GRCm39)		noncoding transcript	Het
4931414P19Rik	T	C	14: 54,823,417 (GRCm39)	D320G	possibly damaging	Het
Adamts6	G	A	13: 104,433,672 (GRCm39)	E34K	probably damaging	Het
Alms1	T	A	6: 85,654,881 (GRCm39)	N3142K	possibly damaging	Het
Anapc7	G	A	5: 122,566,276 (GRCm39)	A62T	probably damaging	Het
Atp8b3	G	A	10: 80,356,256 (GRCm39)	P1152L	probably benign	Het
Cc2d2a	C	T	5: 43,841,527 (GRCm39)	T181I	possibly damaging	Het
Celsr2	A	G	3: 108,300,555 (GRCm39)	L2835P	probably damaging	Het
Ctns	A	T	11: 73,079,548 (GRCm39)	V99D	possibly damaging	Het
Dchs1	T	C	7: 105,421,134 (GRCm39)	R429G	probably damaging	Het
Ddx11	T	C	17: 66,441,132 (GRCm39)	V218A	probably damaging	Het
Eftud2	G	A	11: 102,756,389 (GRCm39)		probably benign	Het
Erich1	G	T	8: 14,128,853 (GRCm39)	T29N	possibly damaging	Het
Exosc8	T	C	3: 54,636,686 (GRCm39)	E215G	probably damaging	Het
Fam184a	G	T	10: 53,575,045 (GRCm39)	A188E	probably benign	Het
Fign	A	G	2: 63,810,032 (GRCm39)	S413P	probably damaging	Het
Fkbp6	A	G	5: 135,378,550 (GRCm39)	S33P	probably damaging	Het
Glb1	A	G	9: 114,279,745 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,875,770 (GRCm39)	T1575A	probably damaging	Het
Il18r1	A	G	1: 40,513,890 (GRCm39)	E32G	probably damaging	Het
Ints5	C	T	19: 8,872,851 (GRCm39)	P270L	possibly damaging	Het
Itga7	G	T	10: 128,785,337 (GRCm39)	E847*	probably null	Het
Kcns3	A	C	12: 11,141,644 (GRCm39)	S352A	possibly damaging	Het
Kiz	A	G	2: 146,705,721 (GRCm39)	K94E	probably benign	Het
Lin7b	C	T	7: 45,018,624 (GRCm39)	V12M	probably damaging	Het
Myo18b	A	T	5: 112,959,570 (GRCm39)	I1409N	probably damaging	Het
Myo5b	A	G	18: 74,777,161 (GRCm39)	H407R	probably damaging	Het
Nelfa	T	C	5: 34,056,146 (GRCm39)	T506A	probably damaging	Het
Or10p21	A	G	10: 128,847,729 (GRCm39)	T192A	probably damaging	Het
Or4d5	A	T	9: 40,012,378 (GRCm39)	M136K	probably damaging	Het
Or5p72	T	A	7: 108,022,235 (GRCm39)	Y152*	probably null	Het
Or6c69	A	G	10: 129,748,114 (GRCm39)	I11T	possibly damaging	Het
Pclo	A	C	5: 14,726,408 (GRCm39)		probably benign	Het
Pes1	G	A	11: 3,927,979 (GRCm39)	E544K	possibly damaging	Het
Rabgap1l	A	G	1: 160,568,315 (GRCm39)		probably benign	Het
Rapgef2	T	C	3: 78,976,244 (GRCm39)	M1521V	probably benign	Het
Rapgef2	C	T	3: 79,011,269 (GRCm39)		probably null	Het
Reln	A	G	5: 22,245,403 (GRCm39)	V735A	probably benign	Het
Slc2a4	A	G	11: 69,835,902 (GRCm39)	S316P	possibly damaging	Het
Smarce1	C	T	11: 99,101,013 (GRCm39)	G373E	possibly damaging	Het
Spata31d1a	T	A	13: 59,849,373 (GRCm39)	R918S	probably benign	Het
St3gal4	T	C	9: 34,963,627 (GRCm39)	K227R	probably benign	Het
Stra6l	T	A	4: 45,864,864 (GRCm39)		probably null	Het
Stxbp5l	T	C	16: 37,036,341 (GRCm39)	I425V	probably damaging	Het
Tcaf2	T	C	6: 42,607,262 (GRCm39)	T231A	probably benign	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tnks	A	G	8: 35,307,136 (GRCm39)	Y1138H	probably damaging	Het
Vezt	T	A	10: 93,832,719 (GRCm39)	I231F	probably damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Zbed3	A	G	13: 95,473,142 (GRCm39)	K189E	possibly damaging	Het
Zfp512b	T	C	2: 181,229,578 (GRCm39)	T625A	possibly damaging	Het
Zfp827	A	T	8: 79,787,362 (GRCm39)	Q176L	possibly damaging	Het

Other mutations in H2-Q1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:H2-Q1	APN	17	35,542,505 (GRCm39)	missense	probably benign	0.26
PIT4531001:H2-Q1	UTSW	17	35,540,055 (GRCm39)	missense	probably damaging	0.99
PIT4531001:H2-Q1	UTSW	17	35,539,892 (GRCm39)	missense	probably benign	0.37
R0380:H2-Q1	UTSW	17	35,542,054 (GRCm39)	missense	probably damaging	1.00
R0570:H2-Q1	UTSW	17	35,540,373 (GRCm39)	missense	possibly damaging	0.94
R1935:H2-Q1	UTSW	17	35,542,469 (GRCm39)	missense	probably benign	0.08
R4352:H2-Q1	UTSW	17	35,539,919 (GRCm39)	missense	possibly damaging	0.52
R4672:H2-Q1	UTSW	17	35,539,906 (GRCm39)	missense	probably damaging	1.00
R4774:H2-Q1	UTSW	17	35,540,242 (GRCm39)	splice site	probably benign
R5941:H2-Q1	UTSW	17	35,540,332 (GRCm39)	missense	probably damaging	1.00
R6825:H2-Q1	UTSW	17	35,540,028 (GRCm39)	missense	probably damaging	1.00
R7136:H2-Q1	UTSW	17	35,539,603 (GRCm39)	critical splice donor site	probably null
R7303:H2-Q1	UTSW	17	35,540,312 (GRCm39)	missense	probably benign	0.00
R7991:H2-Q1	UTSW	17	35,540,356 (GRCm39)	missense	probably damaging	1.00
R8306:H2-Q1	UTSW	17	35,539,997 (GRCm39)	nonsense	probably null
R8786:H2-Q1	UTSW	17	35,539,869 (GRCm39)	missense	probably damaging	1.00
R9381:H2-Q1	UTSW	17	35,542,138 (GRCm39)	missense	probably damaging	1.00
R9454:H2-Q1	UTSW	17	35,540,349 (GRCm39)	missense	probably damaging	1.00
R9622:H2-Q1	UTSW	17	35,542,532 (GRCm39)	missense	probably benign	0.23

Posted On

2013-11-11