Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02417:H2-M1'

292484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M1

Ensembl Gene

ENSMUSG00000037334

Gene Name

histocompatibility 2, M region locus 1

Synonyms

Mb1, H-2M1

Accession Numbers

Essential gene?

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

Stock #

IGL02417

Quality Score

Status

Chromosome

Chromosomal Location

36980900-36983111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36983026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 22 (H22Y)

Ref Sequence

ENSEMBL: ENSMUSP00000040435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041662]

AlphaFold

F7CXU4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041662
AA Change: H22Y

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040435
Gene: ENSMUSG00000037334
AA Change: H22Y

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MHC_I	25	202	7.1e-47	PFAM
IGc1	221	292	3.53e-22	SMART
transmembrane domain	310	332	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	T	A	12: 52,565,136 (GRCm39)	N702K	probably damaging	Het
Atm	T	C	9: 53,390,995 (GRCm39)	T1860A	probably benign	Het
Bicdl1	A	T	5: 115,811,217 (GRCm39)	H231Q	probably damaging	Het
C2cd5	A	C	6: 142,987,218 (GRCm39)	D470E	probably damaging	Het
Chd5	T	C	4: 152,451,751 (GRCm39)	F688L	probably damaging	Het
Cul3	T	C	1: 80,300,619 (GRCm39)	Y74C	probably damaging	Het
Dhx16	A	G	17: 36,203,429 (GRCm39)	E1042G	probably damaging	Het
Dnah11	A	G	12: 118,020,915 (GRCm39)	L1966P	probably damaging	Het
Dpy19l1	A	T	9: 24,386,682 (GRCm39)	I204N	possibly damaging	Het
Drd2	T	C	9: 49,313,559 (GRCm39)		probably benign	Het
Fasn	A	G	11: 120,711,166 (GRCm39)	V228A	probably damaging	Het
Fggy	T	C	4: 95,737,846 (GRCm39)	W148R	probably benign	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Gpr89	A	T	3: 96,804,741 (GRCm39)	Y38*	probably null	Het
Kdm3b	T	A	18: 34,941,630 (GRCm39)	S574T	probably benign	Het
Kmt2c	C	T	5: 25,578,018 (GRCm39)	V753I	probably benign	Het
Lcn9	T	C	2: 25,713,692 (GRCm39)	F73L	possibly damaging	Het
Lnpep	T	C	17: 17,765,165 (GRCm39)	T762A	possibly damaging	Het
Lrp2	C	T	2: 69,291,649 (GRCm39)	C3510Y	probably damaging	Het
Nlrp3	T	A	11: 59,456,849 (GRCm39)		probably benign	Het
Or14c39	A	G	7: 86,344,027 (GRCm39)	Y121C	probably damaging	Het
Or1j18	A	T	2: 36,624,356 (GRCm39)	I8F	probably benign	Het
Or5b3	A	G	19: 13,388,259 (GRCm39)	T109A	possibly damaging	Het
Pcnx3	A	T	19: 5,736,509 (GRCm39)	V176E	possibly damaging	Het
Phlpp1	T	C	1: 106,320,444 (GRCm39)	S1480P	probably benign	Het
Ppfia3	T	C	7: 44,991,141 (GRCm39)	R1027G	probably damaging	Het
Rnf216	A	G	5: 143,054,665 (GRCm39)	Y628H	possibly damaging	Het
Sh3bp1	G	A	15: 78,785,699 (GRCm39)	R4Q	probably damaging	Het
Skint9	A	G	4: 112,271,335 (GRCm39)		probably benign	Het
Slc25a51	A	G	4: 45,400,074 (GRCm39)	S39P	probably benign	Het
Smarca4	C	T	9: 21,612,386 (GRCm39)	R1558C	probably damaging	Het
Spag9	A	G	11: 94,007,567 (GRCm39)	S1224G	probably benign	Het
Spdl1	G	T	11: 34,704,181 (GRCm39)	Q551K	probably benign	Het
Sugt1	A	G	14: 79,847,698 (GRCm39)	I183V	probably benign	Het
Th	G	A	7: 142,453,643 (GRCm39)	S19L	probably damaging	Het
Tmprss11g	A	G	5: 86,638,750 (GRCm39)	V246A	probably benign	Het
Tnfaip8l2	T	C	3: 95,047,714 (GRCm39)	T50A	probably benign	Het
Tox3	G	T	8: 90,984,759 (GRCm39)	T140K	possibly damaging	Het
Unc50	T	A	1: 37,476,531 (GRCm39)	Y205*	probably null	Het
Vmn2r83	A	T	10: 79,314,881 (GRCm39)	K376N	probably benign	Het

Other mutations in H2-M1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:H2-M1	APN	17	36,982,199 (GRCm39)	missense	possibly damaging	0.92
IGL01671:H2-M1	APN	17	36,981,330 (GRCm39)	missense	probably damaging	1.00
IGL01870:H2-M1	APN	17	36,980,955 (GRCm39)	missense	probably benign	0.38
IGL02032:H2-M1	APN	17	36,982,768 (GRCm39)	missense	probably damaging	1.00
IGL02383:H2-M1	APN	17	36,981,141 (GRCm39)	missense	unknown
IGL02700:H2-M1	APN	17	36,982,161 (GRCm39)	missense	possibly damaging	0.93
R0193:H2-M1	UTSW	17	36,982,224 (GRCm39)	missense	probably benign	0.34
R0715:H2-M1	UTSW	17	36,981,120 (GRCm39)	splice site	probably benign
R1271:H2-M1	UTSW	17	36,982,137 (GRCm39)	missense	probably benign	0.33
R1367:H2-M1	UTSW	17	36,982,059 (GRCm39)	missense	probably benign	0.00
R2120:H2-M1	UTSW	17	36,980,929 (GRCm39)	missense	possibly damaging	0.95
R4854:H2-M1	UTSW	17	36,980,950 (GRCm39)	missense	probably benign	0.03
R4899:H2-M1	UTSW	17	36,982,112 (GRCm39)	missense	probably benign	0.09
R4963:H2-M1	UTSW	17	36,982,630 (GRCm39)	missense	probably benign
R5243:H2-M1	UTSW	17	36,982,193 (GRCm39)	missense	possibly damaging	0.73
R6199:H2-M1	UTSW	17	36,982,059 (GRCm39)	missense	probably benign	0.00
R6276:H2-M1	UTSW	17	36,982,602 (GRCm39)	missense	possibly damaging	0.79
R6395:H2-M1	UTSW	17	36,982,701 (GRCm39)	missense	probably benign	0.39
R6818:H2-M1	UTSW	17	36,981,327 (GRCm39)	missense	probably damaging	1.00
R7913:H2-M1	UTSW	17	36,981,129 (GRCm39)	splice site	probably null
R9419:H2-M1	UTSW	17	36,981,231 (GRCm39)	missense	probably damaging	1.00
R9640:H2-M1	UTSW	17	36,983,031 (GRCm39)	missense	probably benign	0.02
R9648:H2-M1	UTSW	17	36,982,248 (GRCm39)	missense	probably benign	0.01
R9746:H2-M1	UTSW	17	36,980,997 (GRCm39)	missense	possibly damaging	0.88

Posted On

2015-04-16