Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:H2-T10'

73138

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-T10

Ensembl Gene

ENSMUSG00000079491

Gene Name

histocompatibility 2, T region locus 10

Synonyms

H-2T10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

36426763-36432336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36431602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 84 (D84G)

Ref Sequence

ENSEMBL: ENSMUSP00000133893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046131] [ENSMUST00000166442] [ENSMUST00000173128] [ENSMUST00000174382]

AlphaFold

F6T1I5

Predicted Effect

probably benign
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: ENSMUST00000166442
AA Change: D84G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127602
Gene: ENSMUSG00000079491
AA Change: D84G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:MHC_I	29	191	6.2e-49	PFAM
IGc1	210	281	4.18e-24	SMART
transmembrane domain	294	313	N/A	INTRINSIC

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 benign
Transcript: ENSMUST00000174382
AA Change: D84G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133893
Gene: ENSMUSG00000079491
AA Change: D84G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:MHC_I	29	205	9.5e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174728

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,880,864 (GRCm39)	S301P	probably damaging	Het
Adam34	A	G	8: 44,104,178 (GRCm39)	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,655,628 (GRCm39)	T617I	probably damaging	Het
Aggf1	T	C	13: 95,490,479 (GRCm39)	D605G	probably damaging	Het
Atp10a	T	A	7: 58,463,373 (GRCm39)	F969I	probably benign	Het
Becn1	A	T	11: 101,182,277 (GRCm39)	N97K	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Crtac1	A	T	19: 42,272,652 (GRCm39)	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,192,319 (GRCm39)	K412E	probably damaging	Het
Dlg2	T	A	7: 91,589,267 (GRCm39)	I327N	probably damaging	Het
Ehf	T	A	2: 103,098,500 (GRCm39)		probably null	Het
Elavl4	T	C	4: 110,063,809 (GRCm39)	N264S	probably benign	Het
Enpp2	A	T	15: 54,739,065 (GRCm39)	I406N	probably damaging	Het
F10	A	T	8: 13,105,383 (GRCm39)	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,576,177 (GRCm39)	I194T	possibly damaging	Het
Fcgbp	T	C	7: 27,789,072 (GRCm39)	V546A	probably benign	Het
Fras1	A	T	5: 96,821,557 (GRCm39)	Q1438L	probably null	Het
Gm43638	T	C	5: 87,608,451 (GRCm39)	I463V	probably benign	Het
Itpr1	T	C	6: 108,376,322 (GRCm39)	F1262L	probably damaging	Het
Lama1	A	G	17: 68,052,046 (GRCm39)	N335D	probably benign	Het
Lasp1	T	C	11: 97,727,016 (GRCm39)	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,567,345 (GRCm39)	I135L	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mctp2	T	C	7: 71,878,274 (GRCm39)	K268R	probably benign	Het
Nbea	A	T	3: 55,938,957 (GRCm39)	H710Q	probably benign	Het
Notch3	G	A	17: 32,385,731 (GRCm39)	R13C	unknown	Het
Ogfod1	A	T	8: 94,782,299 (GRCm39)		probably benign	Het
Or1j11	A	G	2: 36,311,716 (GRCm39)	Y102C	probably benign	Het
Or5b111	A	G	19: 13,291,490 (GRCm39)	L53P	probably damaging	Het
Or8d2	T	C	9: 38,759,548 (GRCm39)	I46T	probably damaging	Het
Pgm3	A	G	9: 86,443,932 (GRCm39)	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,694,068 (GRCm39)	I681F	probably damaging	Het
Prss23	T	C	7: 89,159,095 (GRCm39)	K325E	possibly damaging	Het
Psmd7	T	A	8: 108,313,249 (GRCm39)		probably benign	Het
Rfx2	T	A	17: 57,115,317 (GRCm39)	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,203,141 (GRCm39)	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,505,875 (GRCm39)	R1029H	probably damaging	Het
Septin10	A	G	10: 59,002,422 (GRCm39)	V391A	probably benign	Het
Skint6	A	G	4: 113,093,637 (GRCm39)	F169L	probably benign	Het
Slc44a4	C	T	17: 35,140,674 (GRCm39)	T289I	probably benign	Het
Spata31e5	T	C	1: 28,816,137 (GRCm39)	I632V	probably benign	Het
Srl	T	C	16: 4,315,546 (GRCm39)	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,535,256 (GRCm39)		noncoding transcript	Het
Sult1b1	T	C	5: 87,662,815 (GRCm39)	D295G	probably benign	Het
Tmprss7	A	G	16: 45,504,937 (GRCm39)	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589 (GRCm39)	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,285,447 (GRCm39)	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,795,061 (GRCm39)	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690 (GRCm39)	H324R	possibly damaging	Het

Other mutations in H2-T10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01946:H2-T10	APN	17	36,431,608 (GRCm39)	missense	possibly damaging	0.45
IGL03367:H2-T10	APN	17	36,431,285 (GRCm39)	missense	possibly damaging	0.81
IGL03381:H2-T10	APN	17	36,430,249 (GRCm39)	nonsense	probably null
IGL03381:H2-T10	APN	17	36,430,246 (GRCm39)	missense	probably benign
FR4304:H2-T10	UTSW	17	36,431,173 (GRCm39)	frame shift	probably null
R0305:H2-T10	UTSW	17	36,430,260 (GRCm39)	missense	probably damaging	1.00
R1446:H2-T10	UTSW	17	36,430,266 (GRCm39)	missense	possibly damaging	0.87
R1483:H2-T10	UTSW	17	36,432,038 (GRCm39)	missense	probably benign	0.44
R2038:H2-T10	UTSW	17	36,430,317 (GRCm39)	missense	probably benign	0.00
R2402:H2-T10	UTSW	17	36,428,631 (GRCm39)	splice site	probably null
R4755:H2-T10	UTSW	17	36,429,837 (GRCm39)	nonsense	probably null
R4957:H2-T10	UTSW	17	36,428,308 (GRCm39)	utr 3 prime	probably benign
R5162:H2-T10	UTSW	17	36,429,843 (GRCm39)	splice site	probably null
R5568:H2-T10	UTSW	17	36,430,079 (GRCm39)	critical splice donor site	probably null
R6226:H2-T10	UTSW	17	36,431,975 (GRCm39)	missense	probably damaging	0.99
R6850:H2-T10	UTSW	17	36,430,152 (GRCm39)	missense	probably damaging	1.00
R7249:H2-T10	UTSW	17	36,430,269 (GRCm39)	missense	probably damaging	0.99
R7324:H2-T10	UTSW	17	36,430,189 (GRCm39)	missense	probably damaging	1.00
R7466:H2-T10	UTSW	17	36,431,741 (GRCm39)	missense	probably benign	0.10
R7679:H2-T10	UTSW	17	36,430,216 (GRCm39)	missense	not run
R7767:H2-T10	UTSW	17	36,428,622 (GRCm39)	missense	probably benign	0.02
R7901:H2-T10	UTSW	17	36,431,143 (GRCm39)	missense	probably benign
R8278:H2-T10	UTSW	17	36,429,832 (GRCm39)	missense	probably benign	0.00
R8315:H2-T10	UTSW	17	36,429,905 (GRCm39)	missense	probably benign	0.41
R9646:H2-T10	UTSW	17	36,431,157 (GRCm39)	missense	probably damaging	0.96
RF032:H2-T10	UTSW	17	36,431,186 (GRCm39)	frame shift	probably null
RF046:H2-T10	UTSW	17	36,431,186 (GRCm39)	frame shift	probably null

Posted On

2013-10-07