Mutagenetix > Incidental Mutation

Incidental Mutation 'R6785:H2-M9'

531647

Institutional Source

Beutler Lab

Gene Symbol

H2-M9

Ensembl Gene

ENSMUSG00000067201

Gene Name

histocompatibility 2, M region locus 9

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R6785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36639285-36642666 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36642233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 61 (N61D)

Ref Sequence

ENSEMBL: ENSMUSP00000084409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087165] [ENSMUST00000087167]

AlphaFold

O19442

Predicted Effect

probably damaging
Transcript: ENSMUST00000087165
AA Change: N61D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084409
Gene: ENSMUSG00000067201
AA Change: N61D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MHC_I	25	203	2.4e-45	PFAM
transmembrane domain	216	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087167
AA Change: N61D

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000084411
Gene: ENSMUSG00000067201
AA Change: N61D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MHC_I	25	203	5.3e-44	PFAM
IGc1	222	293	5.73e-22	SMART
transmembrane domain	308	330	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	G	2: 22,953,467	V316A	probably benign	Het
Acad12	T	C	5: 121,609,845	Y170C	probably damaging	Het
Acss2	T	C	2: 155,560,685	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,522,004	I422V	probably damaging	Het
AI481877	T	C	4: 59,049,066	M1100V	probably benign	Het
Aldh18a1	A	G	19: 40,568,344	L375P	probably damaging	Het
B020011L13Rik	A	G	1: 117,801,069	D102G	possibly damaging	Het
Cfap74	T	A	4: 155,454,024		probably benign	Het
Coa4	G	A	7: 100,539,253	V58M	probably damaging	Het
Crybg1	T	C	10: 43,999,171	N647S	probably benign	Het
D3Ertd254e	T	A	3: 36,165,452	C541*	probably null	Het
Dync1h1	G	A	12: 110,629,679	G1547S	probably damaging	Het
Espnl	A	G	1: 91,322,221	D30G	probably benign	Het
Fasl	T	A	1: 161,781,835	Y194F	probably benign	Het
Fbxw8	T	C	5: 118,092,689	E349G	probably damaging	Het
Gen1	A	G	12: 11,262,530	V13A	possibly damaging	Het
Gm4559	A	G	7: 142,274,108	C86R	unknown	Het
H6pd	C	T	4: 149,982,790	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,501,188		probably null	Het
Hnrnpd	C	A	5: 99,978,424	K67N	probably benign	Het
Hspg2	T	C	4: 137,508,398	S170P	probably damaging	Het
Igsf10	G	T	3: 59,319,244	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,912,615		probably null	Het
Katnb1	T	C	8: 95,095,642	Y298H	probably benign	Het
Kif21a	A	T	15: 90,935,730	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,850,193	C119*	probably null	Het
Lcn2	C	T	2: 32,387,027		probably null	Het
Lmf2	A	T	15: 89,352,033	S588T	probably benign	Het
Mboat7	A	G	7: 3,685,836	L231P	probably benign	Het
Mier2	T	C	10: 79,544,713	R288G	probably damaging	Het
Mybbp1a	T	C	11: 72,447,566	V694A	probably benign	Het
Ndnf	C	A	6: 65,703,063	L109I	probably benign	Het
Nfkb1	C	A	3: 135,615,303	E230D	probably benign	Het
Nostrin	A	G	2: 69,183,927	K409R	probably benign	Het
Olfr1082	T	A	2: 86,594,421	M136L	probably damaging	Het
Olfr338	A	G	2: 36,376,842	Q22R	probably benign	Het
Olfr338	C	A	2: 36,376,951	Y58*	probably null	Het
Pdpr	C	A	8: 111,124,611	T534N	probably benign	Het
Plekhf1	G	A	7: 38,222,064	Q27*	probably null	Het
Ppp6c	A	T	2: 39,197,581	H204Q	probably benign	Het
Prrc2c	T	C	1: 162,709,101		probably benign	Het
Prrg2	A	G	7: 45,060,225	F83L	probably damaging	Het
Rab11fip3	T	G	17: 25,991,718	D938A	probably damaging	Het
Rai1	A	G	11: 60,188,794	N1228S	probably benign	Het
Ryr1	G	T	7: 29,064,874	T3060K	probably benign	Het
Scube2	A	G	7: 109,810,617	I557T	probably benign	Het
Setdb1	C	A	3: 95,326,401	R1066L	probably benign	Het
Slc35f3	T	C	8: 126,394,459	V353A	probably benign	Het
Slfn3	A	T	11: 83,214,601	T475S	possibly damaging	Het
Snrnp200	T	A	2: 127,229,165	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,242,481	K223*	probably null	Het
Tex2	A	C	11: 106,533,950	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,370,485	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,377,233	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,430,907	L26P	probably damaging	Het
Trim80	T	C	11: 115,441,201	I73T	probably damaging	Het
Tssk4	T	A	14: 55,650,475	Y43N	probably damaging	Het
Ttn	T	C	2: 76,711,495	T25389A	probably damaging	Het
Ttn	A	T	2: 76,747,944	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,866,137	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,908,204	T697S	probably benign	Het

Other mutations in H2-M9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01808:H2-M9	APN	17	36641819	splice site	probably null
IGL02133:H2-M9	APN	17	36641737	missense	possibly damaging	0.95
IGL02323:H2-M9	APN	17	36640741	missense	probably damaging	1.00
IGL02957:H2-M9	APN	17	36642157	missense	probably benign	0.00
IGL03127:H2-M9	APN	17	36640822	missense	possibly damaging	0.48
R0025:H2-M9	UTSW	17	36641755	missense	probably damaging	1.00
R0026:H2-M9	UTSW	17	36641527	splice site	probably benign
R0926:H2-M9	UTSW	17	36641773	missense	probably damaging	0.98
R1171:H2-M9	UTSW	17	36641653	missense	probably benign	0.14
R1264:H2-M9	UTSW	17	36642592	missense	probably benign
R1995:H2-M9	UTSW	17	36641786	missense	probably damaging	1.00
R4622:H2-M9	UTSW	17	36641824	splice site	probably null
R4737:H2-M9	UTSW	17	36640739	nonsense	probably null
R4808:H2-M9	UTSW	17	36640792	missense	probably damaging	0.99
R5176:H2-M9	UTSW	17	36641631	missense	probably damaging	0.98
R6756:H2-M9	UTSW	17	36642335	missense	probably damaging	1.00
R7216:H2-M9	UTSW	17	36640702	missense	probably benign
R7464:H2-M9	UTSW	17	36642411	splice site	probably null
R8079:H2-M9	UTSW	17	36642133	missense	probably benign	0.39
R8688:H2-M9	UTSW	17	36642142	missense	probably damaging	1.00
R9174:H2-M9	UTSW	17	36642289	missense	probably damaging	0.99
X0018:H2-M9	UTSW	17	36641722	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACCCATGGGCAGCTTGATG -3'
(R):5'- CTACCTTCCTTGGGAATAGGC -3'

Sequencing Primer
(F):5'- CTGCTTGGGGTTTACTCACCAG -3'
(R):5'- CCTTGGGAATAGGCCTGTGGAC -3'

Posted On

2018-08-29