Mutagenetix > Incidental Mutation

Incidental Mutation 'R7244:H2-T9'

568711

Institutional Source

Beutler Lab

Gene Symbol

H2-T9

Ensembl Gene

Gene Name

histocompatibility 2, T region locus 9

Synonyms

H-2T9, H2-T25, Gm7030

MMRRC Submission

045308-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R7244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36349299-36432318 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to A at 36438496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046131] [ENSMUST00000172968] [ENSMUST00000173128] [ENSMUST00000173322]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000046131

SMART Domains

Protein: ENSMUSP00000040558
Gene: ENSMUSG00000092243

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:MHC_I	26	204	2.3e-81	PFAM
IGc1	220	285	8.12e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172968

SMART Domains

Protein: ENSMUSP00000133748
Gene: ENSMUSG00000092243

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:MHC_I	26	204	1.5e-80	PFAM
IGc1	220	285	8.12e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173128

SMART Domains

Protein: ENSMUSP00000134339
Gene: ENSMUSG00000092277

Domain	Start	End	E-Value	Type
low complexity region	103	115	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173322

SMART Domains

Protein: ENSMUSP00000133734
Gene: ENSMUSG00000092243

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:MHC_I	26	204	2.3e-81	PFAM
IGc1	220	285	8.12e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,170,350 (GRCm39)	F983L	probably damaging	Het
Cc2d1b	T	A	4: 108,486,799 (GRCm39)	M632K	probably benign	Het
Cdyl2	G	A	8: 117,301,999 (GRCm39)	R461*	probably null	Het
Cfap57	G	A	4: 118,411,997 (GRCm39)	Q1216*	probably null	Het
Chd1l	A	T	3: 97,505,066 (GRCm39)	V167E	probably damaging	Het
Col6a1	C	A	10: 76,553,242 (GRCm39)	G391*	probably null	Het
Ctsc	C	A	7: 87,951,430 (GRCm39)	Q226K	probably benign	Het
Cyp2c54	A	G	19: 40,035,953 (GRCm39)	V319A	probably damaging	Het
Dnah7b	T	C	1: 46,316,303 (GRCm39)	S3139P	probably damaging	Het
Edrf1	T	C	7: 133,256,079 (GRCm39)	S643P	probably benign	Het
Fam186a	A	T	15: 99,844,273 (GRCm39)	V657D	unknown	Het
Fkbp11	A	G	15: 98,626,073 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,823,607 (GRCm39)	A6447T	possibly damaging	Het
Hydin	A	G	8: 111,276,307 (GRCm39)	D3017G	probably damaging	Het
Ifi205	G	A	1: 173,845,210 (GRCm39)	Q191*	probably null	Het
Mbd4	C	T	6: 115,821,564 (GRCm39)	D484N	probably benign	Het
Med24	C	T	11: 98,605,223 (GRCm39)		probably null	Het
Mis18bp1	T	C	12: 65,208,404 (GRCm39)	N103S	probably damaging	Het
Mmd2	T	C	5: 142,550,587 (GRCm39)	H217R	probably damaging	Het
Mn1	C	T	5: 111,566,699 (GRCm39)	T223M	possibly damaging	Het
Ms4a4a	A	G	19: 11,358,794 (GRCm39)	Y84C	probably damaging	Het
Mup5	A	T	4: 61,749,818 (GRCm39)		probably null	Het
Mybl2	C	T	2: 162,924,605 (GRCm39)	P658S	probably benign	Het
Mycbp2	C	A	14: 103,446,345 (GRCm39)	V1828L	probably damaging	Het
Myh15	T	C	16: 49,017,149 (GRCm39)	Y1887H	probably damaging	Het
Nadk2	A	G	15: 9,083,271 (GRCm39)		probably null	Het
Nsd3	A	G	8: 26,156,055 (GRCm39)	N541D	probably damaging	Het
Or52e8b	A	G	7: 104,674,148 (GRCm39)	V13A	probably benign	Het
Or52i2	G	T	7: 102,319,046 (GRCm39)		probably benign	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Pcdha11	A	T	18: 37,144,421 (GRCm39)	R171*	probably null	Het
Pkd1l1	A	T	11: 8,821,771 (GRCm39)	V1641E		Het
Pramel28	A	T	4: 143,692,455 (GRCm39)	M182K	probably benign	Het
Prom1	T	A	5: 44,178,242 (GRCm39)	I497L	probably benign	Het
Rasgef1b	T	C	5: 99,706,753 (GRCm39)	K41E	possibly damaging	Het
Rasgrf1	T	C	9: 89,876,810 (GRCm39)	F725S	probably damaging	Het
Ryr2	T	A	13: 11,612,032 (GRCm39)	S3962C	probably damaging	Het
Sema5b	A	T	16: 35,480,915 (GRCm39)	T829S	probably benign	Het
Tdp2	A	G	13: 25,025,284 (GRCm39)	D351G	probably benign	Het
Tet3	A	T	6: 83,347,603 (GRCm39)	D1130E	probably damaging	Het
Tg	T	C	15: 66,612,563 (GRCm39)	C1993R	probably damaging	Het
Tll1	T	C	8: 64,478,222 (GRCm39)	I844V	probably benign	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Vmn2r109	A	G	17: 20,760,945 (GRCm39)	V804A	possibly damaging	Het
Vps13c	T	C	9: 67,797,086 (GRCm39)	V491A	probably benign	Het
Xpo5	G	T	17: 46,525,551 (GRCm39)	G233C	probably damaging	Het

Other mutations in H2-T9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02997:H2-T9	APN	17	36,438,728 (GRCm39)	missense	possibly damaging	0.81
IGL03154:H2-T9	APN	17	36,438,767 (GRCm39)	missense	probably benign	0.01
IGL03170:H2-T9	APN	17	36,439,605 (GRCm39)	missense	probably damaging	1.00
IGL03229:H2-T9	APN	17	36,438,614 (GRCm39)	missense	probably damaging	1.00
R0401:H2-T9	UTSW	17	36,439,597 (GRCm39)	missense	probably damaging	0.99
R0666:H2-T9	UTSW	17	36,438,726 (GRCm39)	missense	possibly damaging	0.56
R1981:H2-T9	UTSW	17	36,439,614 (GRCm39)	missense	probably damaging	0.99
R1982:H2-T9	UTSW	17	36,439,614 (GRCm39)	missense	probably damaging	0.99
R3110:H2-T9	UTSW	17	36,440,038 (GRCm39)	missense	probably damaging	1.00
R3112:H2-T9	UTSW	17	36,440,038 (GRCm39)	missense	probably damaging	1.00
R4811:H2-T9	UTSW	17	36,438,668 (GRCm39)	missense	probably damaging	0.97
R5023:H2-T9	UTSW	17	36,420,307 (GRCm39)	unclassified	probably benign
R5146:H2-T9	UTSW	17	36,439,907 (GRCm39)	missense	probably damaging	1.00
R5802:H2-T9	UTSW	17	36,422,179 (GRCm39)	intron	probably benign
R6628:H2-T9	UTSW	17	36,439,946 (GRCm39)	missense	possibly damaging	0.49
R7123:H2-T9	UTSW	17	36,438,686 (GRCm39)	missense	possibly damaging	0.82
R7880:H2-T9	UTSW	17	36,438,761 (GRCm39)	missense	possibly damaging	0.59
R8118:H2-T9	UTSW	17	36,438,582 (GRCm39)	missense	probably damaging	0.97
R8926:H2-T9	UTSW	17	36,420,626 (GRCm39)	critical splice acceptor site	probably null
V1662:H2-T9	UTSW	17	36,439,823 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAGGAAACACAGACTCTGC -3'
(R):5'- TGACCTGGCAGTTGAATGGG -3'

Sequencing Primer
(F):5'- GCTCCAATGATGATCACAGCTC -3'
(R):5'- ATGGGGAGGAGCTGACCC -3'

Posted On

2019-09-13