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: 0.061) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

36115876-36121465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36120710 bp (GRCm38)

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: 66,841,705	S301P	probably damaging	Het
Adam34	A	G	8: 43,651,141	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,783,779	T617I	probably damaging	Het
Aggf1	T	C	13: 95,353,971	D605G	probably damaging	Het
Atp10a	T	A	7: 58,813,625	F969I	probably benign	Het
Becn1	A	T	11: 101,291,451	N97K	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Crtac1	A	T	19: 42,284,213	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,215,358	K412E	probably damaging	Het
Dlg2	T	A	7: 91,940,059	I327N	probably damaging	Het
Ehf	T	A	2: 103,268,155		probably null	Het
Elavl4	T	C	4: 110,206,612	N264S	probably benign	Het
Enpp2	A	T	15: 54,875,669	I406N	probably damaging	Het
F10	A	T	8: 13,055,383	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,685,351	I194T	possibly damaging	Het
Fcgbp	T	C	7: 28,089,647	V546A	probably benign	Het
Fras1	A	T	5: 96,673,698	Q1438L	probably null	Het
Gm43638	T	C	5: 87,460,592	I463V	probably benign	Het
Gm597	T	C	1: 28,777,056	I632V	probably benign	Het
Itpr1	T	C	6: 108,399,361	F1262L	probably damaging	Het
Lama1	A	G	17: 67,745,051	N335D	probably benign	Het
Lasp1	T	C	11: 97,836,190	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,683,142	I135L	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mctp2	T	C	7: 72,228,526	K268R	probably benign	Het
Nbea	A	T	3: 56,031,536	H710Q	probably benign	Het
Notch3	G	A	17: 32,166,757	R13C	unknown	Het
Ogfod1	A	T	8: 94,055,671		probably benign	Het
Olfr1465	A	G	19: 13,314,126	L53P	probably damaging	Het
Olfr339	A	G	2: 36,421,704	Y102C	probably benign	Het
Olfr924	T	C	9: 38,848,252	I46T	probably damaging	Het
Pgm3	A	G	9: 86,561,879	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,858,207	I681F	probably damaging	Het
Prss23	T	C	7: 89,509,887	K325E	possibly damaging	Het
Psmd7	T	A	8: 107,586,617		probably benign	Het
Rfx2	T	A	17: 56,808,317	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,312,315	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,773,678	R1029H	probably damaging	Het
Sept10	A	G	10: 59,166,600	V391A	probably benign	Het
Skint6	A	G	4: 113,236,440	F169L	probably benign	Het
Slc44a4	C	T	17: 34,921,698	T289I	probably benign	Het
Srl	T	C	16: 4,497,682	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,557,892		noncoding transcript	Het
Sult1b1	T	C	5: 87,514,956	D295G	probably benign	Het
Tmprss7	A	G	16: 45,684,574	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,065,185	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,796,799	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690	H324R	possibly damaging	Het

Other mutations in H2-T10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01946:H2-T10	APN	17	36120716	missense	possibly damaging	0.45
IGL03367:H2-T10	APN	17	36120393	missense	possibly damaging	0.81
IGL03381:H2-T10	APN	17	36119354	missense	probably benign
IGL03381:H2-T10	APN	17	36119357	nonsense	probably null
FR4304:H2-T10	UTSW	17	36120281	frame shift	probably null
R0305:H2-T10	UTSW	17	36119368	missense	probably damaging	1.00
R1446:H2-T10	UTSW	17	36119374	missense	possibly damaging	0.87
R1483:H2-T10	UTSW	17	36121146	missense	probably benign	0.44
R2038:H2-T10	UTSW	17	36119425	missense	probably benign	0.00
R2402:H2-T10	UTSW	17	36117739	splice site	probably null
R4755:H2-T10	UTSW	17	36118945	nonsense	probably null
R4957:H2-T10	UTSW	17	36117416	utr 3 prime	probably benign
R5162:H2-T10	UTSW	17	36118951	splice site	probably null
R5568:H2-T10	UTSW	17	36119187	critical splice donor site	probably null
R6226:H2-T10	UTSW	17	36121083	missense	probably damaging	0.99
R6850:H2-T10	UTSW	17	36119260	missense	probably damaging	1.00
R7249:H2-T10	UTSW	17	36119377	missense	probably damaging	0.99
R7324:H2-T10	UTSW	17	36119297	missense	probably damaging	1.00
R7466:H2-T10	UTSW	17	36120849	missense	probably benign	0.10
R7679:H2-T10	UTSW	17	36119324	missense	not run
R7767:H2-T10	UTSW	17	36117730	missense	probably benign	0.02
R7901:H2-T10	UTSW	17	36120251	missense	probably benign
R8278:H2-T10	UTSW	17	36118940	missense	probably benign	0.00
R8315:H2-T10	UTSW	17	36119013	missense	probably benign	0.41
R9646:H2-T10	UTSW	17	36120265	missense	probably damaging	0.96
RF032:H2-T10	UTSW	17	36120294	frame shift	probably null
RF046:H2-T10	UTSW	17	36120294	frame shift	probably null

Posted On

2013-10-07