Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02957:H2-M9'

365150

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M9

Ensembl Gene

ENSMUSG00000067201

Gene Name

histocompatibility 2, M region locus 9

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02957

Quality Score

Status

Chromosome

Chromosomal Location

36950177-36953558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36953049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 86 (L86S)

Ref Sequence

ENSEMBL: ENSMUSP00000084409 (fasta)

Gene Model

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

AlphaFold

O19442

Predicted Effect

probably benign
Transcript: ENSMUST00000087165
AA Change: L86S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000084409
Gene: ENSMUSG00000067201
AA Change: L86S

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: L86S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000084411
Gene: ENSMUSG00000067201
AA Change: L86S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,509,945 (GRCm39)	D262G	probably damaging	Het
Abtb3	T	A	10: 85,469,701 (GRCm39)	M405K	probably damaging	Het
Abtb3	C	T	10: 85,467,150 (GRCm39)		probably benign	Het
Ahcyl1	G	T	3: 107,574,958 (GRCm39)	Q462K	probably damaging	Het
C8b	A	G	4: 104,623,652 (GRCm39)	T20A	probably benign	Het
Casd1	T	A	6: 4,634,068 (GRCm39)	Y594N	possibly damaging	Het
Crtc2	C	T	3: 90,169,840 (GRCm39)	P412L	probably damaging	Het
Cyp3a44	T	A	5: 145,716,472 (GRCm39)	R373*	probably null	Het
Dnah10	A	G	5: 124,840,197 (GRCm39)	D1277G	probably benign	Het
Dnah2	A	T	11: 69,339,333 (GRCm39)	V3058E	possibly damaging	Het
Eif3l	T	C	15: 78,974,028 (GRCm39)	L481P	probably benign	Het
Fbxw7	A	T	3: 84,883,544 (GRCm39)	T573S	probably benign	Het
Fcgbp	C	A	7: 27,791,272 (GRCm39)	Y844*	probably null	Het
Fcrl2	C	A	3: 87,169,501 (GRCm39)	V13F	possibly damaging	Het
Gbx2	T	G	1: 89,858,375 (GRCm39)	S35R	probably benign	Het
Hebp1	C	T	6: 135,114,990 (GRCm39)	G157D	probably benign	Het
Igf2bp3	C	A	6: 49,064,338 (GRCm39)	V560L	probably benign	Het
Igsf10	A	G	3: 59,238,285 (GRCm39)	I632T	probably damaging	Het
Kcnab2	A	T	4: 152,520,326 (GRCm39)	S5T	possibly damaging	Het
Kcnh5	T	C	12: 75,054,439 (GRCm39)	S502G	probably benign	Het
Lpcat2	T	A	8: 93,602,212 (GRCm39)	Y224*	probably null	Het
Mcrip2	A	G	17: 26,087,499 (GRCm39)	V24A	probably damaging	Het
Mttp	T	C	3: 137,814,842 (GRCm39)	K493E	possibly damaging	Het
Myl7	A	G	11: 5,847,137 (GRCm39)	S139P	possibly damaging	Het
Npepps	C	T	11: 97,133,478 (GRCm39)	R268H	probably damaging	Het
Oas1c	C	T	5: 120,943,478 (GRCm39)	W18*	probably null	Het
Or10ak7	G	T	4: 118,791,316 (GRCm39)	T241N	probably damaging	Het
P4ha3	T	C	7: 99,968,112 (GRCm39)		probably benign	Het
Pate14	G	T	9: 36,549,146 (GRCm39)	T38K	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pkhd1l1	T	A	15: 44,376,304 (GRCm39)	W989R	probably damaging	Het
Podxl	A	G	6: 31,505,384 (GRCm39)		probably benign	Het
Pot1b	T	C	17: 56,007,009 (GRCm39)	Y36C	probably damaging	Het
Ppme1	A	T	7: 99,987,647 (GRCm39)	I103K	possibly damaging	Het
Ppp1r12a	T	C	10: 108,034,779 (GRCm39)	I108T	probably damaging	Het
Pramel1	A	G	4: 143,124,168 (GRCm39)	H281R	probably benign	Het
Prep	T	C	10: 45,002,126 (GRCm39)	V427A	probably benign	Het
Prkce	A	G	17: 86,803,454 (GRCm39)	D451G	possibly damaging	Het
Prrc2c	A	G	1: 162,534,104 (GRCm39)		probably benign	Het
Ramacl	A	T	13: 67,056,277 (GRCm39)		probably benign	Het
Rrm2	A	G	12: 24,758,440 (GRCm39)	N32S	probably damaging	Het
Sema6a	A	G	18: 47,382,291 (GRCm39)	L752P	probably damaging	Het
Sik3	T	A	9: 46,107,143 (GRCm39)	I429N	possibly damaging	Het
Slc22a29	A	G	19: 8,147,354 (GRCm39)	L336P	probably benign	Het
Stk32a	A	T	18: 43,445,057 (GRCm39)	M284L	probably benign	Het
Syde2	T	C	3: 145,694,934 (GRCm39)		probably benign	Het
Tcta	G	A	9: 108,182,531 (GRCm39)	S91F	possibly damaging	Het
Traf3ip2	A	T	10: 39,530,406 (GRCm39)	T517S	probably damaging	Het
Trpv3	A	G	11: 73,176,698 (GRCm39)	Y359C	probably damaging	Het
Vmn1r66	A	G	7: 10,008,737 (GRCm39)	S99P	probably damaging	Het
Vmn2r8	G	A	5: 108,950,091 (GRCm39)	T252M	probably benign	Het
Wdr27	A	T	17: 15,130,372 (GRCm39)		probably benign	Het
Yipf1	A	G	4: 107,193,347 (GRCm39)	T78A	probably damaging	Het
Zfp735	A	T	11: 73,601,755 (GRCm39)	Y233F	probably benign	Het

Other mutations in H2-M9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01808:H2-M9	APN	17	36,952,711 (GRCm39)	splice site	probably null
IGL02133:H2-M9	APN	17	36,952,629 (GRCm39)	missense	possibly damaging	0.95
IGL02323:H2-M9	APN	17	36,951,633 (GRCm39)	missense	probably damaging	1.00
IGL03127:H2-M9	APN	17	36,951,714 (GRCm39)	missense	possibly damaging	0.48
R0025:H2-M9	UTSW	17	36,952,647 (GRCm39)	missense	probably damaging	1.00
R0026:H2-M9	UTSW	17	36,952,419 (GRCm39)	splice site	probably benign
R0926:H2-M9	UTSW	17	36,952,665 (GRCm39)	missense	probably damaging	0.98
R1171:H2-M9	UTSW	17	36,952,545 (GRCm39)	missense	probably benign	0.14
R1264:H2-M9	UTSW	17	36,953,484 (GRCm39)	missense	probably benign
R1995:H2-M9	UTSW	17	36,952,678 (GRCm39)	missense	probably damaging	1.00
R4622:H2-M9	UTSW	17	36,952,716 (GRCm39)	splice site	probably null
R4737:H2-M9	UTSW	17	36,951,631 (GRCm39)	nonsense	probably null
R4808:H2-M9	UTSW	17	36,951,684 (GRCm39)	missense	probably damaging	0.99
R5176:H2-M9	UTSW	17	36,952,523 (GRCm39)	missense	probably damaging	0.98
R6756:H2-M9	UTSW	17	36,953,227 (GRCm39)	missense	probably damaging	1.00
R6785:H2-M9	UTSW	17	36,953,125 (GRCm39)	missense	probably damaging	0.99
R7216:H2-M9	UTSW	17	36,951,594 (GRCm39)	missense	probably benign
R7464:H2-M9	UTSW	17	36,953,303 (GRCm39)	splice site	probably null
R8079:H2-M9	UTSW	17	36,953,025 (GRCm39)	missense	probably benign	0.39
R8688:H2-M9	UTSW	17	36,953,034 (GRCm39)	missense	probably damaging	1.00
R9174:H2-M9	UTSW	17	36,953,181 (GRCm39)	missense	probably damaging	0.99
X0018:H2-M9	UTSW	17	36,952,614 (GRCm39)	missense	probably benign	0.01

Posted On

2015-12-18