Mutagenetix > Incidental Mutation

Incidental Mutation 'R5646:H2-T23'

441191

Institutional Source

Beutler Lab

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

MMRRC Submission

043294-MU

Accession Numbers

Essential gene?

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

Stock #

R5646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36340869-36343593 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 36342695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 148 (E148Q)

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: E148Q

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099739
Gene: ENSMUSG00000067212
AA Change: E148Q

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: ENSMUST00000173900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174839

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add1	C	A	5: 34,788,024 (GRCm39)	A691D	probably benign	Het
Agap3	C	A	5: 24,688,395 (GRCm39)	D394E	probably benign	Het
Arhgef11	T	C	3: 87,591,793 (GRCm39)	V59A	possibly damaging	Het
Atp2a1	A	G	7: 126,052,277 (GRCm39)	V402A	probably benign	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Bsn	A	T	9: 107,987,631 (GRCm39)		probably benign	Het
Camk1	A	G	6: 113,316,301 (GRCm39)	V81A	probably damaging	Het
Cass4	T	G	2: 172,258,165 (GRCm39)	C54W	probably damaging	Het
Ccdc39	A	T	3: 33,879,699 (GRCm39)	F456L	probably damaging	Het
Cdc42bpa	A	G	1: 179,933,659 (GRCm39)	E766G	probably damaging	Het
Cdcp2	T	C	4: 106,962,339 (GRCm39)	C171R	probably damaging	Het
Cdh9	G	A	15: 16,823,371 (GRCm39)	E118K	probably damaging	Het
Col4a2	G	A	8: 11,491,281 (GRCm39)	G1227R	probably damaging	Het
Cyp2d9	A	G	15: 82,336,665 (GRCm39)	T5A	probably benign	Het
Dlg5	T	A	14: 24,208,767 (GRCm39)	D813V	probably damaging	Het
Dmtf1	G	A	5: 9,174,515 (GRCm39)	S405F	possibly damaging	Het
Drd2	A	G	9: 49,316,212 (GRCm39)	K324R	probably benign	Het
Ergic1	T	C	17: 26,833,332 (GRCm39)	S29P	probably damaging	Het
Fmnl1	A	G	11: 103,087,338 (GRCm39)		probably benign	Het
Foxd2	C	T	4: 114,765,832 (GRCm39)	A63T	unknown	Het
Gfap	T	C	11: 102,782,282 (GRCm39)	I409M	probably benign	Het
Gfpt1	A	G	6: 87,019,981 (GRCm39)	M1V	probably null	Het
Hip1	G	A	5: 135,457,595 (GRCm39)	R704W	probably damaging	Het
Kif19a	A	C	11: 114,670,480 (GRCm39)	D130A	probably damaging	Het
Lin7b	T	C	7: 45,018,617 (GRCm39)	D14G	probably damaging	Het
Meioc	T	A	11: 102,566,083 (GRCm39)	N510K	possibly damaging	Het
Mettl5	C	A	2: 69,711,663 (GRCm39)	G68*	probably null	Het
Mitf	A	T	6: 97,990,655 (GRCm39)	I184F	probably damaging	Het
Mmp9	T	A	2: 164,790,970 (GRCm39)	H119Q	probably benign	Het
Mycbp2	T	A	14: 103,407,346 (GRCm39)	H2768L	probably benign	Het
Myh2	A	T	11: 67,079,638 (GRCm39)	I1032F	probably benign	Het
Myo3b	T	C	2: 70,144,774 (GRCm39)	I1110T	probably damaging	Het
Nde1	T	C	16: 13,987,378 (GRCm39)	F8L	probably damaging	Het
Or10aa3	C	T	1: 173,878,853 (GRCm39)	Q305*	probably null	Het
Or2a25	A	G	6: 42,888,457 (GRCm39)		probably null	Het
Or2h2b-ps1	T	C	17: 37,480,808 (GRCm39)	I244V	probably benign	Het
Or4f47	T	C	2: 111,973,028 (GRCm39)	V246A	possibly damaging	Het
Or51r1	A	C	7: 102,228,512 (GRCm39)	Y270S	possibly damaging	Het
Or5ac20	C	T	16: 59,104,342 (GRCm39)	V173I	probably benign	Het
Or6c202	T	C	10: 128,996,706 (GRCm39)	D49G	possibly damaging	Het
Pcdhga8	A	G	18: 37,859,823 (GRCm39)	H293R	probably benign	Het
Pde7a	A	T	3: 19,287,937 (GRCm39)	L244Q	probably damaging	Het
Pex14	T	C	4: 149,045,910 (GRCm39)	D340G	probably benign	Het
Pfkfb4	A	T	9: 108,837,489 (GRCm39)	I195F	probably damaging	Het
Pik3c2a	C	A	7: 116,005,186 (GRCm39)	G361W	probably damaging	Het
Prkcg	T	A	7: 3,377,597 (GRCm39)	M517K	probably damaging	Het
Prob1	A	T	18: 35,787,167 (GRCm39)	F362L	probably benign	Het
Rims4	C	T	2: 163,705,937 (GRCm39)	W232*	probably null	Het
Robo2	T	C	16: 73,758,707 (GRCm39)	D688G	probably damaging	Het
Sec24c	C	A	14: 20,729,641 (GRCm39)	A73E	probably benign	Het
Slc15a3	A	G	19: 10,820,574 (GRCm39)	N64D	probably benign	Het
Smg1	A	T	7: 117,811,782 (GRCm39)	N65K	probably benign	Het
Spata31h1	A	G	10: 82,119,610 (GRCm39)	S4467P	probably damaging	Het
Sptb	G	T	12: 76,634,215 (GRCm39)	D2165E	probably benign	Het
Sptbn5	A	T	2: 119,879,292 (GRCm39)		noncoding transcript	Het
Syt12	A	T	19: 4,506,569 (GRCm39)	M192K	possibly damaging	Het
Tas2r107	A	G	6: 131,636,671 (GRCm39)	V126A	probably benign	Het
Thbs3	T	C	3: 89,126,405 (GRCm39)	L242P	probably damaging	Het
Timp2	A	T	11: 118,208,358 (GRCm39)		probably null	Het
Tmtc1	G	A	6: 148,148,329 (GRCm39)	A751V	probably damaging	Het
Tnni2	A	T	7: 141,997,650 (GRCm39)	D85V	probably damaging	Het
Ttc39b	G	A	4: 83,162,307 (GRCm39)	P319L	probably damaging	Het
Ttc6	A	T	12: 57,622,805 (GRCm39)	K68M	probably damaging	Het
Usp25	G	A	16: 76,847,360 (GRCm39)	R156Q	probably benign	Het
Vill	A	T	9: 118,900,230 (GRCm39)	D365V	probably damaging	Het
Vmn1r65	T	A	7: 6,012,223 (GRCm39)	T4S	probably benign	Het
Vmn2r76	C	A	7: 85,875,261 (GRCm39)	C572F	probably damaging	Het
Vps26a	A	C	10: 62,304,077 (GRCm39)	N181K	probably damaging	Het
Xirp2	T	C	2: 67,341,134 (GRCm39)	L1125P	probably damaging	Het
Zbtb41	T	G	1: 139,351,501 (GRCm39)	S205A	probably benign	Het
Zfp438	T	C	18: 5,214,526 (GRCm39)	D144G	probably benign	Het
Zfp600	T	C	4: 146,131,670 (GRCm39)	S113P	probably damaging	Het
Zfp84	C	T	7: 29,475,818 (GRCm39)	T170M	probably benign	Het
Zmiz2	T	A	11: 6,352,837 (GRCm39)	D654E	probably damaging	Het
Zswim4	A	T	8: 84,957,739 (GRCm39)		probably null	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
IGL03036:H2-T23	APN	17	36,343,249 (GRCm39)	missense	possibly damaging	0.73
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGCCCCTGAGGTTATACC -3'
(R):5'- TCTTGACCCGCTGAGACAAAG -3'

Sequencing Primer
(F):5'- GGTTATACCTCAAGGATTTCCCC -3'
(R):5'- CCGCTGAGACAAAGTTTCATC -3'

Posted On

2016-11-08