Mutagenetix > Incidental Mutation

Incidental Mutation 'R8064:H2-M10.2'

619920

Institutional Source

Beutler Lab

Gene Symbol

H2-M10.2

Ensembl Gene

ENSMUSG00000023083

Gene Name

histocompatibility 2, M region locus 10.2

Synonyms

4.7H

MMRRC Submission

067500-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36595173-36597313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36595442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 283 (V283M)

Ref Sequence

ENSEMBL: ENSMUSP00000023845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023845]

AlphaFold

Q85ZW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000023845
AA Change: V283M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023845
Gene: ENSMUSG00000023083
AA Change: V283M

Domain	Start	End	E-Value	Type
Pfam:MHC_I	23	201	6.5e-50	PFAM
IGc1	220	291	1.32e-21	SMART
transmembrane domain	304	326	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	A	T	8: 25,171,566 (GRCm39)	V755D	probably benign	Het
Adgrb3	A	T	1: 25,459,637 (GRCm39)		probably null	Het
Anapc2	T	C	2: 25,166,418 (GRCm39)	V395A	probably benign	Het
Apol11b	A	G	15: 77,519,417 (GRCm39)	V221A	not run	Het
Arhgef28	T	A	13: 98,115,002 (GRCm39)	Y616F	probably benign	Het
Brdt	C	A	5: 107,525,862 (GRCm39)	S905*	probably null	Het
Ccdc54	T	A	16: 50,410,327 (GRCm39)	H313L	probably benign	Het
Chuk	A	G	19: 44,071,115 (GRCm39)	L530P	probably damaging	Het
Csl	A	T	10: 99,594,407 (GRCm39)	N219K	probably damaging	Het
Cyp2j5	A	G	4: 96,546,948 (GRCm39)	S189P	probably damaging	Het
Cyp4a14	A	T	4: 115,352,155 (GRCm39)	C86S	probably benign	Het
Dgkg	TCTCCT	TCT	16: 22,399,344 (GRCm39)		probably null	Het
F11	C	T	8: 45,698,810 (GRCm39)	G445S	probably benign	Het
Fer	T	A	17: 64,214,418 (GRCm39)	I117N	probably benign	Het
Gpat3	A	T	5: 101,039,522 (GRCm39)	I290F	probably benign	Het
Hpse	G	A	5: 100,836,766 (GRCm39)	P408S	probably benign	Het
Hyou1	T	A	9: 44,296,882 (GRCm39)	N515K	possibly damaging	Het
Idh1	A	G	1: 65,205,338 (GRCm39)	L209P	probably damaging	Het
Igkv16-104	A	T	6: 68,402,875 (GRCm39)	Y56F	possibly damaging	Het
Ins2	A	G	7: 142,232,553 (GRCm39)	L77P	probably benign	Het
Kcnn2	A	T	18: 45,692,426 (GRCm39)	M1L	probably benign	Het
Kdm3b	A	T	18: 34,946,460 (GRCm39)		probably null	Het
Lysmd4	T	C	7: 66,873,398 (GRCm39)	F11S	probably damaging	Het
Macf1	T	A	4: 123,353,167 (GRCm39)	D3625V	possibly damaging	Het
Mlkl	T	A	8: 112,038,700 (GRCm39)	E459V	probably benign	Het
Nsd3	A	T	8: 26,190,698 (GRCm39)	K210*	probably null	Het
Or10ag57	C	T	2: 87,218,853 (GRCm39)	T268I	probably benign	Het
Or10q1b	T	C	19: 13,682,386 (GRCm39)	F65S	probably damaging	Het
Or52n4	T	A	7: 104,294,561 (GRCm39)	Q6L	probably benign	Het
Pcsk5	T	C	19: 17,692,225 (GRCm39)	N153S	probably damaging	Het
Rac3	T	A	11: 120,614,401 (GRCm39)	V182E	probably benign	Het
Ripk3	T	G	14: 56,025,383 (GRCm39)	E60D	possibly damaging	Het
Sacs	T	A	14: 61,429,624 (GRCm39)	I561N	possibly damaging	Het
Smad7	A	G	18: 75,527,153 (GRCm39)	Y333C	probably damaging	Het
Snhg11	T	G	2: 158,218,121 (GRCm39)	M1R	probably null	Het
Sp100	C	T	1: 85,608,860 (GRCm39)	R330*	probably null	Het
Spen	T	C	4: 141,203,011 (GRCm39)	K1872R	possibly damaging	Het
Spon1	T	A	7: 113,635,856 (GRCm39)	I690N	probably damaging	Het
Taok1	G	A	11: 77,440,130 (GRCm39)	R626*	probably null	Het
Tecta	C	T	9: 42,306,251 (GRCm39)	G59D	possibly damaging	Het
Tmem8b	T	C	4: 43,690,139 (GRCm39)	F399S	probably damaging	Het
Trank1	C	T	9: 111,181,144 (GRCm39)	Q389*	probably null	Het
Vmn1r33	G	T	6: 66,588,911 (GRCm39)	S214R	probably benign	Het
Vmn2r25	A	T	6: 123,800,581 (GRCm39)	L587*	probably null	Het
Vps35l	T	C	7: 118,353,147 (GRCm39)	I238T	probably damaging	Het
Zfp335	G	A	2: 164,749,620 (GRCm39)	T259I	probably damaging	Het

Other mutations in H2-M10.2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:H2-M10.2	APN	17	36,597,288 (GRCm39)	missense	probably damaging	0.99
IGL01490:H2-M10.2	APN	17	36,596,377 (GRCm39)	missense	probably damaging	0.96
IGL02347:H2-M10.2	APN	17	36,596,505 (GRCm39)	missense	probably benign	0.00
IGL02884:H2-M10.2	APN	17	36,595,568 (GRCm39)	missense	probably damaging	1.00
IGL03244:H2-M10.2	APN	17	36,596,463 (GRCm39)	missense	probably benign	0.33
R0383:H2-M10.2	UTSW	17	36,595,253 (GRCm39)	missense	probably benign	0.04
R1756:H2-M10.2	UTSW	17	36,597,015 (GRCm39)	splice site	probably benign
R1803:H2-M10.2	UTSW	17	36,596,763 (GRCm39)	missense	probably benign
R2496:H2-M10.2	UTSW	17	36,596,771 (GRCm39)	missense	possibly damaging	0.93
R3816:H2-M10.2	UTSW	17	36,597,254 (GRCm39)	nonsense	probably null
R4597:H2-M10.2	UTSW	17	36,596,285 (GRCm39)	missense	probably benign	0.07
R4832:H2-M10.2	UTSW	17	36,595,219 (GRCm39)	missense	probably damaging	0.99
R5200:H2-M10.2	UTSW	17	36,595,641 (GRCm39)	missense	probably benign	0.17
R5325:H2-M10.2	UTSW	17	36,596,471 (GRCm39)	missense	probably benign	0.00
R7443:H2-M10.2	UTSW	17	36,596,945 (GRCm39)	missense	probably benign
R8894:H2-M10.2	UTSW	17	36,595,555 (GRCm39)	missense	possibly damaging	0.65
R9420:H2-M10.2	UTSW	17	36,595,643 (GRCm39)	missense	probably benign	0.01
R9489:H2-M10.2	UTSW	17	36,596,936 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAGGCCGATGAGAATTGCTATG -3'
(R):5'- GACCTGAAGGGAATGTCACC -3'

Sequencing Primer
(F):5'- CCGATGAGAATTGCTATGATGGG -3'
(R):5'- CCTGAGGTGCTGGGCCC -3'

Posted On

2020-01-23