Mutagenetix > Incidental Mutation

Incidental Mutation 'R6328:H2-M10.6'

510834

Institutional Source

Beutler Lab

Gene Symbol

H2-M10.6

Ensembl Gene

ENSMUSG00000037130

Gene Name

histocompatibility 2, M region locus 10.6

Synonyms

MMRRC Submission

044482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R6328 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37123067-37126458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37124836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 251 (M251K)

Ref Sequence

ENSEMBL: ENSMUSP00000039908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041398]

AlphaFold

Q85ZW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000041398
AA Change: M251K

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039908
Gene: ENSMUSG00000037130
AA Change: M251K

Domain	Start	End	E-Value	Type
Pfam:MHC_I	24	202	2.2e-47	PFAM
IGc1	221	292	9.31e-22	SMART
transmembrane domain	305	327	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Abcb10	G	A	8: 124,688,756 (GRCm39)	R507W	probably damaging	Het
Actg1	T	C	11: 120,238,586 (GRCm39)	D80G	possibly damaging	Het
Actr5	A	G	2: 158,477,264 (GRCm39)	D405G	possibly damaging	Het
Ahnak	C	T	19: 8,984,512 (GRCm39)	T1932I	probably benign	Het
Ankk1	T	A	9: 49,327,371 (GRCm39)	T603S	possibly damaging	Het
Atp13a3	A	T	16: 30,155,053 (GRCm39)	F964I	probably damaging	Het
Atp6v1g3	A	G	1: 138,215,570 (GRCm39)	T77A	probably benign	Het
Bccip	A	G	7: 133,319,503 (GRCm39)	H198R	probably damaging	Het
Bsx	A	T	9: 40,785,519 (GRCm39)	R16W	probably damaging	Het
Ccdc88b	C	T	19: 6,826,406 (GRCm39)	R1103Q	probably damaging	Het
Cd59a	A	C	2: 103,941,103 (GRCm39)	Y27S	probably damaging	Het
Cdk20	A	G	13: 64,584,413 (GRCm39)	H162R	probably damaging	Het
Col6a2	C	T	10: 76,450,212 (GRCm39)	E240K	possibly damaging	Het
Ddr2	A	G	1: 169,814,634 (GRCm39)	V603A	possibly damaging	Het
Dgkz	A	G	2: 91,772,980 (GRCm39)	V359A	probably benign	Het
Dis3l2	T	A	1: 86,782,153 (GRCm39)	S223T	probably benign	Het
Dpysl4	A	G	7: 138,679,734 (GRCm39)	S535G	probably benign	Het
Dsp	A	T	13: 38,380,982 (GRCm39)	K1977*	probably null	Het
Dync2h1	A	T	9: 7,165,717 (GRCm39)	S515T	probably benign	Het
Epg5	A	G	18: 78,072,179 (GRCm39)	E2397G	possibly damaging	Het
Fam83d	G	A	2: 158,627,096 (GRCm39)	G262S	probably damaging	Het
Frmd4a	A	T	2: 4,595,509 (GRCm39)	T477S	probably damaging	Het
Gbp3	A	G	3: 142,274,819 (GRCm39)	E382G	probably benign	Het
Gltp	A	T	5: 114,808,572 (GRCm39)	C157S	possibly damaging	Het
Grb10	A	G	11: 11,887,905 (GRCm39)	S378P	probably damaging	Het
Gulo	G	T	14: 66,240,080 (GRCm39)	T126K	probably damaging	Het
Hecw1	T	C	13: 14,422,205 (GRCm39)	D967G	possibly damaging	Het
Htr3b	A	T	9: 48,858,933 (GRCm39)	D68E	probably damaging	Het
Igkv5-39	G	T	6: 69,877,489 (GRCm39)	S89*	probably null	Het
Kctd4	C	A	14: 76,200,037 (GRCm39)		probably benign	Het
Lmna	T	C	3: 88,393,813 (GRCm39)	Q255R	probably damaging	Het
Lsmem1	A	G	12: 40,230,656 (GRCm39)	I82T	possibly damaging	Het
Lyg2	T	A	1: 37,950,194 (GRCm39)	M45L	probably benign	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Nudt5	A	T	2: 5,869,248 (GRCm39)	K158I	possibly damaging	Het
Nufip1	C	T	14: 76,348,494 (GRCm39)	P41L	possibly damaging	Het
Or4f14b	A	T	2: 111,775,739 (GRCm39)	W21R	probably null	Het
Or52z13	A	T	7: 103,247,073 (GRCm39)	E183D	probably damaging	Het
Pcp2	T	C	8: 3,674,887 (GRCm39)	D22G	probably damaging	Het
Pdk2	G	C	11: 94,930,228 (GRCm39)	N69K	possibly damaging	Het
Pdlim7	G	T	13: 55,655,905 (GRCm39)		probably benign	Het
Ptprc	C	A	1: 138,041,416 (GRCm39)	E148*	probably null	Het
Rassf5	A	T	1: 131,108,405 (GRCm39)	V225E	probably damaging	Het
Rbm6	A	T	9: 107,664,458 (GRCm39)	M725K	probably benign	Het
Scn1a	T	A	2: 66,103,660 (GRCm39)	I1867F	probably damaging	Het
Sdk2	T	A	11: 113,684,581 (GRCm39)	Q1960L	probably damaging	Het
Setx	A	G	2: 29,064,474 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,381,345 (GRCm39)	R496*	probably null	Het
Slco1a1	C	T	6: 141,878,176 (GRCm39)	V222I	probably damaging	Het
Sntg2	A	C	12: 30,308,013 (GRCm39)	L224R	probably damaging	Het
Syt16	C	A	12: 74,313,467 (GRCm39)	C464*	probably null	Het
Tapbpl	T	A	6: 125,201,881 (GRCm39)	S420C	probably benign	Het
Tax1bp1	A	G	6: 52,723,694 (GRCm39)	E528G	probably benign	Het
Tmem168	T	C	6: 13,602,710 (GRCm39)	T219A	probably benign	Het
Zfp180	T	C	7: 23,804,981 (GRCm39)	F467L	probably damaging	Het

Other mutations in H2-M10.6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:H2-M10.6	APN	17	37,123,112 (GRCm39)	missense	probably benign	0.13
IGL01590:H2-M10.6	APN	17	37,123,641 (GRCm39)	missense	probably benign	0.05
IGL03200:H2-M10.6	APN	17	37,124,908 (GRCm39)	missense	probably damaging	1.00
IGL03278:H2-M10.6	APN	17	37,124,715 (GRCm39)	missense	probably damaging	0.99
R0018:H2-M10.6	UTSW	17	37,124,941 (GRCm39)	missense	probably damaging	1.00
R0144:H2-M10.6	UTSW	17	37,123,133 (GRCm39)	missense	probably damaging	0.99
R0194:H2-M10.6	UTSW	17	37,124,934 (GRCm39)	missense	probably damaging	1.00
R1168:H2-M10.6	UTSW	17	37,124,052 (GRCm39)	missense	probably benign
R1757:H2-M10.6	UTSW	17	37,124,043 (GRCm39)	missense	probably benign	0.00
R1773:H2-M10.6	UTSW	17	37,123,076 (GRCm39)	missense	probably benign	0.00
R2029:H2-M10.6	UTSW	17	37,124,799 (GRCm39)	missense	possibly damaging	0.47
R3409:H2-M10.6	UTSW	17	37,124,893 (GRCm39)	missense	probably damaging	1.00
R3856:H2-M10.6	UTSW	17	37,123,396 (GRCm39)	missense	probably benign	0.18
R4373:H2-M10.6	UTSW	17	37,123,958 (GRCm39)	missense	probably damaging	1.00
R4869:H2-M10.6	UTSW	17	37,123,425 (GRCm39)	missense	probably benign	0.04
R5684:H2-M10.6	UTSW	17	37,124,746 (GRCm39)	missense	probably damaging	1.00
R6020:H2-M10.6	UTSW	17	37,123,959 (GRCm39)	missense	probably damaging	1.00
R6180:H2-M10.6	UTSW	17	37,125,178 (GRCm39)	missense	probably damaging	1.00
R8245:H2-M10.6	UTSW	17	37,124,155 (GRCm39)	critical splice donor site	probably null
R9687:H2-M10.6	UTSW	17	37,125,147 (GRCm39)	missense	probably benign	0.01
R9705:H2-M10.6	UTSW	17	37,123,642 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TTTCCAGAGATGGTCCCATGAG -3'
(R):5'- ACAATTCCTGACAGCAGTGTG -3'

Sequencing Primer
(F):5'- TGGTCCCATGAGCACTGC -3'
(R):5'- CCTGACAGCAGTGTGTGTGC -3'

Posted On

2018-04-02