Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03036:H2-T23'

408648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-T23

Ensembl Gene

ENSMUSG00000067212

Gene Name

histocompatibility 2, T region locus 23

Synonyms

Qed-1, H-2T23, 37c, Qa-1, T23b, T23d, Qa1, T18c, T18c(37), 37b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL03036

Quality Score

Status

Chromosome

Chromosomal Location

36340869-36343593 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36343249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 43 (I43F)

Ref Sequence

ENSEMBL: ENSMUSP00000099739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102678]

AlphaFold

P06339

PDB Structure

Structure of the MHC class Ib molecule Qa-1b [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102678
AA Change: I43F

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099739
Gene: ENSMUSG00000067212
AA Change: I43F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MHC_I	21	199	1.9e-93	PFAM
IGc1	218	289	1.89e-22	SMART
transmembrane domain	304	326	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174839

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: CD4⁺ T cells from mice with a homozygous null mutation have enhanced responses after infection or immunization, are resistant to suppressor activity mediated by a subset of CD8⁺ T cells, but are more susceptible to NK cell lysis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	T	10: 80,421,534 (GRCm39)	Y145*	probably null	Het
Afdn	T	G	17: 14,108,350 (GRCm39)	I1291S	probably benign	Het
Arfgap3	T	G	15: 83,191,127 (GRCm39)	I16L	possibly damaging	Het
Bbs12	T	A	3: 37,373,343 (GRCm39)	H45Q	possibly damaging	Het
Brpf3	T	C	17: 29,043,022 (GRCm39)	L1021P	possibly damaging	Het
Cep170	A	G	1: 176,596,903 (GRCm39)	S485P	possibly damaging	Het
Cgref1	A	T	5: 31,090,937 (GRCm39)	N292K	probably damaging	Het
Chst3	A	T	10: 60,022,261 (GRCm39)	Y195*	probably null	Het
Clmn	T	C	12: 104,740,782 (GRCm39)	Y125C	probably damaging	Het
Col13a1	A	G	10: 61,729,692 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,002,348 (GRCm39)	I688N	probably damaging	Het
Cpn2	A	T	16: 30,079,647 (GRCm39)	L18H	probably benign	Het
Crybg3	T	A	16: 59,375,542 (GRCm39)	H1904L	possibly damaging	Het
Csde1	C	T	3: 102,951,155 (GRCm39)	P249S	probably damaging	Het
Dcaf1	T	C	9: 106,721,339 (GRCm39)	L377P	probably damaging	Het
Dmwd	A	T	7: 18,815,054 (GRCm39)	K568M	probably damaging	Het
Dsg2	T	C	18: 20,712,134 (GRCm39)	I90T	probably damaging	Het
Dytn	A	G	1: 63,680,281 (GRCm39)	I426T	probably damaging	Het
Edc4	G	A	8: 106,613,943 (GRCm39)		probably null	Het
Elac1	G	T	18: 73,871,985 (GRCm39)	Q337K	probably benign	Het
Exd2	G	T	12: 80,536,185 (GRCm39)	A272S	probably damaging	Het
F13b	A	G	1: 139,435,853 (GRCm39)	I220V	possibly damaging	Het
Fblim1	G	T	4: 141,310,435 (GRCm39)	R276S	possibly damaging	Het
Fn1	A	C	1: 71,668,932 (GRCm39)	L671R	probably damaging	Het
Frem1	A	T	4: 82,877,576 (GRCm39)	F1334I	possibly damaging	Het
Hp1bp3	G	A	4: 137,956,043 (GRCm39)	G202D	probably damaging	Het
Kdm5b	A	G	1: 134,536,675 (GRCm39)	M632V	probably damaging	Het
Klra5	T	A	6: 129,885,830 (GRCm39)	S20C	probably damaging	Het
Lancl1	A	T	1: 67,046,074 (GRCm39)	C276S	probably damaging	Het
Lect2	A	G	13: 56,690,520 (GRCm39)	*152Q	probably null	Het
Maff	C	A	15: 79,241,658 (GRCm39)	S25*	probably null	Het
Mtr	A	G	13: 12,262,263 (GRCm39)	L171P	probably damaging	Het
Ndufs1	A	T	1: 63,202,855 (GRCm39)	Y236*	probably null	Het
Neb	A	C	2: 52,134,165 (GRCm39)	Y3273D	probably damaging	Het
Nup133	A	T	8: 124,673,333 (GRCm39)	I66K	probably benign	Het
Or4c110	T	C	2: 88,832,459 (GRCm39)	M58V	possibly damaging	Het
Psmd14	A	G	2: 61,614,205 (GRCm39)	Y200C	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Ptk2b	T	A	14: 66,411,344 (GRCm39)		probably benign	Het
Pum3	G	A	19: 27,398,713 (GRCm39)	T279M	probably damaging	Het
Rabl6	C	T	2: 25,474,868 (GRCm39)	G614D	probably benign	Het
Ripk3	T	C	14: 56,024,796 (GRCm39)	D128G	probably benign	Het
Serinc4	A	T	2: 121,270,039 (GRCm39)		probably benign	Het
Slco1a8	T	G	6: 141,954,333 (GRCm39)	I47L	possibly damaging	Het
Sorbs2	T	C	8: 46,235,902 (GRCm39)	S322P	probably benign	Het
Spmap2l	A	C	5: 77,164,197 (GRCm39)	K67Q	possibly damaging	Het
Srebf1	A	T	11: 60,111,284 (GRCm39)	I29N	possibly damaging	Het
Stk38l	T	C	6: 146,670,372 (GRCm39)	L238S	probably damaging	Het
Supt20	T	A	3: 54,616,723 (GRCm39)	C298*	probably null	Het
Tbc1d19	A	G	5: 54,054,389 (GRCm39)	D459G	probably damaging	Het
Ulk2	A	T	11: 61,725,660 (GRCm39)	L139M	probably damaging	Het
Unc13b	A	G	4: 43,235,249 (GRCm39)	N3279S	probably damaging	Het
Ush2a	A	G	1: 188,596,818 (GRCm39)	R3853G	possibly damaging	Het
Usp7	C	T	16: 8,556,078 (GRCm39)	M24I	probably benign	Het
Vil1	A	G	1: 74,458,771 (GRCm39)	T131A	probably damaging	Het
Vmn2r2	C	T	3: 64,024,321 (GRCm39)	M753I	probably benign	Het
Vmn2r74	A	T	7: 85,601,900 (GRCm39)	Y579*	probably null	Het
Zdhhc3	A	T	9: 122,929,582 (GRCm39)	Y18N	probably damaging	Het
Zfp609	C	T	9: 65,609,927 (GRCm39)	S1012N	possibly damaging	Het
Zfr2	A	T	10: 81,077,985 (GRCm39)	M271L	probably benign	Het

Other mutations in H2-T23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:H2-T23	APN	17	36,342,673 (GRCm39)	missense	probably damaging	1.00
IGL01685:H2-T23	APN	17	36,343,536 (GRCm39)	missense	probably benign	0.29
IGL02756:H2-T23	APN	17	36,342,580 (GRCm39)	missense	probably damaging	1.00
LCD18:H2-T23	UTSW	17	36,342,108 (GRCm39)	intron	probably benign
R0539:H2-T23	UTSW	17	36,343,033 (GRCm39)	splice site	probably benign
R0845:H2-T23	UTSW	17	36,341,475 (GRCm39)	missense	probably benign	0.00
R1727:H2-T23	UTSW	17	36,342,545 (GRCm39)	missense	possibly damaging	0.52
R2044:H2-T23	UTSW	17	36,343,083 (GRCm39)	missense	probably damaging	1.00
R3121:H2-T23	UTSW	17	36,341,855 (GRCm39)	missense	probably benign	0.13
R3122:H2-T23	UTSW	17	36,341,855 (GRCm39)	missense	probably benign	0.13
R3943:H2-T23	UTSW	17	36,341,535 (GRCm39)	missense	probably benign	0.01
R3944:H2-T23	UTSW	17	36,341,535 (GRCm39)	missense	probably benign	0.01
R4492:H2-T23	UTSW	17	36,343,058 (GRCm39)	missense	probably damaging	0.97
R4660:H2-T23	UTSW	17	36,341,108 (GRCm39)	missense	probably damaging	0.99
R4669:H2-T23	UTSW	17	36,342,690 (GRCm39)	missense	probably damaging	1.00
R4740:H2-T23	UTSW	17	36,343,016 (GRCm39)	intron	probably benign
R5151:H2-T23	UTSW	17	36,343,230 (GRCm39)	missense	probably damaging	1.00
R5196:H2-T23	UTSW	17	36,343,499 (GRCm39)	critical splice donor site	probably null
R5237:H2-T23	UTSW	17	36,341,258 (GRCm39)	splice site	probably null
R5307:H2-T23	UTSW	17	36,343,108 (GRCm39)	missense	probably benign	0.00
R5336:H2-T23	UTSW	17	36,342,550 (GRCm39)	missense	possibly damaging	0.85
R5646:H2-T23	UTSW	17	36,342,695 (GRCm39)	missense	possibly damaging	0.49
R5800:H2-T23	UTSW	17	36,342,496 (GRCm39)	intron	probably benign
R6013:H2-T23	UTSW	17	36,341,474 (GRCm39)	missense	probably benign	0.00
R6081:H2-T23	UTSW	17	36,342,707 (GRCm39)	missense	possibly damaging	0.90
R6382:H2-T23	UTSW	17	36,342,724 (GRCm39)	missense	probably damaging	1.00
R7043:H2-T23	UTSW	17	36,342,803 (GRCm39)	missense	probably damaging	1.00
R7134:H2-T23	UTSW	17	36,342,709 (GRCm39)	missense	probably damaging	1.00
R9383:H2-T23	UTSW	17	36,343,227 (GRCm39)	missense	possibly damaging	0.64
R9550:H2-T23	UTSW	17	36,342,712 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02