Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01859:H2-T15'

178262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-T15

Ensembl Gene

Gene Name

histocompatibility 2, T region locus 15

Synonyms

H2-T27, H-2T15, Gm11127

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01859

Quality Score

Status

Chromosome

Chromosomal Location

36366708-36369263 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36368903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 59 (M59K)

Ref Sequence

ENSEMBL: ENSMUSP00000109371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097331] [ENSMUST00000113742]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000097331

SMART Domains

Protein: ENSMUSP00000094943
Gene: ENSMUSG00000073407

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113742
AA Change: M59K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109371
Gene: ENSMUSG00000079492
AA Change: M59K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:MHC_I	26	204	6.4e-81	PFAM
IGc1	220	291	2.53e-23	SMART
transmembrane domain	306	328	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 103,963,336 (GRCm39)		probably benign	Het
Ak7	A	G	12: 105,711,556 (GRCm39)	M398V	probably null	Het
Angptl3	C	T	4: 98,925,669 (GRCm39)	R332*	probably null	Het
Ano7	A	G	1: 93,322,168 (GRCm39)	Y392C	probably damaging	Het
Arpc1b	T	C	5: 145,060,540 (GRCm39)	F18L	probably damaging	Het
Cdc23	G	T	18: 34,784,459 (GRCm39)	P73Q	probably benign	Het
Cdkl1	A	C	12: 69,806,903 (GRCm39)	L111R	probably damaging	Het
Cntnap2	A	G	6: 46,965,655 (GRCm39)	D822G	probably damaging	Het
Col6a5	G	A	9: 105,808,160 (GRCm39)	R963*	probably null	Het
Crocc	T	C	4: 140,756,601 (GRCm39)	D1008G	probably benign	Het
Dntt	G	T	19: 41,025,743 (GRCm39)	M120I	probably benign	Het
Dock1	A	G	7: 134,678,890 (GRCm39)	Y1003C	possibly damaging	Het
Fam178b	T	A	1: 36,698,446 (GRCm39)	R92W	probably damaging	Het
Fermt2	A	G	14: 45,697,413 (GRCm39)	V646A	possibly damaging	Het
Foxc1	T	C	13: 31,992,706 (GRCm39)	S506P	unknown	Het
Gtpbp1	T	A	15: 79,603,341 (GRCm39)	V610E	probably benign	Het
Hsdl2	T	C	4: 59,601,569 (GRCm39)		probably null	Het
Itgb8	T	A	12: 119,153,680 (GRCm39)	R278S	probably damaging	Het
Kcnh7	T	A	2: 62,552,132 (GRCm39)	D953V	probably benign	Het
Med13	A	T	11: 86,174,577 (GRCm39)	D1749E	possibly damaging	Het
Mocos	G	T	18: 24,799,717 (GRCm39)		probably benign	Het
Pcdhb20	T	G	18: 37,637,616 (GRCm39)	N47K	probably damaging	Het
Phf21a	T	A	2: 92,158,701 (GRCm39)	F227L	probably damaging	Het
Piezo2	T	C	18: 63,225,915 (GRCm39)	E907G	probably benign	Het
Pla2g4e	G	T	2: 120,013,214 (GRCm39)	Q369K	possibly damaging	Het
Ppp3cb	A	G	14: 20,559,517 (GRCm39)	I413T	probably damaging	Het
Ptgis	A	G	2: 167,056,726 (GRCm39)		probably null	Het
Rasgrp1	A	G	2: 117,119,899 (GRCm39)	V452A	probably benign	Het
Rbms3	T	A	9: 116,788,606 (GRCm39)	D105V	probably damaging	Het
Rnase1	C	A	14: 51,383,260 (GRCm39)	Q31H	probably benign	Het
Rnase13	G	T	14: 52,159,760 (GRCm39)	N126K	probably damaging	Het
Sema5b	G	T	16: 35,467,479 (GRCm39)	V248L	possibly damaging	Het
Serpinb12	G	A	1: 106,881,564 (GRCm39)		probably null	Het
Slc4a11	A	T	2: 130,526,914 (GRCm39)	L738Q	probably damaging	Het
Spta1	A	T	1: 174,001,938 (GRCm39)	I23F	probably damaging	Het
Stk-ps2	A	T	1: 46,069,202 (GRCm39)		noncoding transcript	Het
Tcp1	A	G	17: 13,141,571 (GRCm39)	E350G	possibly damaging	Het
Tonsl	T	C	15: 76,518,980 (GRCm39)	K518E	probably damaging	Het
Trim34a	A	G	7: 103,910,149 (GRCm39)	E317G	probably damaging	Het
Trit1	A	G	4: 122,943,344 (GRCm39)	S335G	probably benign	Het
Usp28	G	T	9: 48,935,321 (GRCm39)	E91*	probably null	Het
Vmn2r56	A	G	7: 12,449,932 (GRCm39)	L102P	probably damaging	Het
Wwtr1	A	C	3: 57,384,938 (GRCm39)	L203R	possibly damaging	Het
Zfp110	T	C	7: 12,583,467 (GRCm39)	V705A	possibly damaging	Het
Zfp955a	T	C	17: 33,462,693 (GRCm39)	N67S	probably benign	Het

Other mutations in H2-T15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02007:H2-T15	APN	17	36,367,222 (GRCm39)	missense	possibly damaging	0.50
R1075:H2-T15	UTSW	17	36,367,038 (GRCm39)	missense	probably benign	0.05
R1829:H2-T15	UTSW	17	36,368,896 (GRCm39)	missense	probably damaging	1.00
R1944:H2-T15	UTSW	17	36,368,897 (GRCm39)	missense	probably damaging	1.00
R4117:H2-T15	UTSW	17	36,368,496 (GRCm39)	missense	probably damaging	1.00
R4584:H2-T15	UTSW	17	36,368,559 (GRCm39)	missense	probably damaging	1.00
R4626:H2-T15	UTSW	17	36,368,788 (GRCm39)	frame shift	probably null
R4649:H2-T15	UTSW	17	36,368,768 (GRCm39)	missense	possibly damaging	0.90
R4864:H2-T15	UTSW	17	36,369,253 (GRCm39)	utr 3 prime	probably benign
R5412:H2-T15	UTSW	17	36,366,936 (GRCm39)	missense	probably benign	0.01
R5430:H2-T15	UTSW	17	36,366,967 (GRCm39)	missense	probably benign	0.00
R5547:H2-T15	UTSW	17	36,368,796 (GRCm39)	missense	possibly damaging	0.63
R5896:H2-T15	UTSW	17	36,367,236 (GRCm39)	missense	probably benign	0.01
R5974:H2-T15	UTSW	17	36,367,677 (GRCm39)	missense	probably benign	0.05
R6456:H2-T15	UTSW	17	36,367,502 (GRCm39)	missense	probably damaging	1.00
R7073:H2-T15	UTSW	17	36,369,235 (GRCm39)	missense	unknown
R7217:H2-T15	UTSW	17	36,367,235 (GRCm39)	missense	probably benign	0.01
R7652:H2-T15	UTSW	17	36,367,675 (GRCm39)	missense	probably damaging	1.00
R8267:H2-T15	UTSW	17	36,367,675 (GRCm39)	missense	possibly damaging	0.52

Posted On

2014-05-07