Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02063:H2-M10.1'

185526

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M10.1

Ensembl Gene

ENSMUSG00000024448

Gene Name

histocompatibility 2, M region locus 10.1

Synonyms

9.5H

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL02063

Quality Score

Status

Chromosome

Chromosomal Location

36633752-36637042 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 36634901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025322]

AlphaFold

O19443

Predicted Effect

probably benign
Transcript: ENSMUST00000025322

SMART Domains

Protein: ENSMUSP00000025322
Gene: ENSMUSG00000024448

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
Pfam:MHC_I	25	203	3.2e-54	PFAM
IGc1	222	293	3.72e-21	SMART
transmembrane domain	306	328	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172576

SMART Domains

Protein: ENSMUSP00000133408
Gene: ENSMUSG00000024448

Domain	Start	End	E-Value	Type
Pfam:MHC_I	12	159	5e-43	PFAM
IGc1	178	249	3.72e-21	SMART
transmembrane domain	262	284	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	A	G	12: 105,614,581 (GRCm39)	Y1117H	possibly damaging	Het
B020004C17Rik	A	G	14: 57,253,480 (GRCm39)	R24G	probably damaging	Het
BC005624	A	G	2: 30,868,946 (GRCm39)	M76T	probably benign	Het
Blm	G	T	7: 80,159,167 (GRCm39)	S323*	probably null	Het
Card19	C	A	13: 49,356,607 (GRCm39)	G181*	probably null	Het
Cilp2	T	C	8: 70,335,515 (GRCm39)	I494M	probably damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,934,617 (GRCm39)	D1431G	probably benign	Het
Cped1	G	A	6: 22,138,701 (GRCm39)	C560Y	probably damaging	Het
Cyfip1	T	C	7: 55,576,096 (GRCm39)	S1091P	probably damaging	Het
Ddx24	A	G	12: 103,384,461 (GRCm39)	I466T	probably damaging	Het
Dlg2	T	A	7: 91,459,684 (GRCm39)		probably benign	Het
Esf1	C	A	2: 140,006,377 (GRCm39)	D257Y	possibly damaging	Het
Fgfr2	A	G	7: 129,769,485 (GRCm39)	F634S	probably damaging	Het
Flywch2	A	G	17: 23,996,081 (GRCm39)		probably benign	Het
Gbp10	A	T	5: 105,383,906 (GRCm39)	I32N	possibly damaging	Het
Gli3	A	G	13: 15,900,957 (GRCm39)	D1448G	possibly damaging	Het
Gm10335	T	C	10: 14,399,147 (GRCm39)		probably benign	Het
Golga5	A	T	12: 102,438,418 (GRCm39)	E44D	probably benign	Het
Ino80b	A	T	6: 83,101,143 (GRCm39)	D141E	probably damaging	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Krt73	C	T	15: 101,704,204 (GRCm39)		probably benign	Het
Loxl4	G	T	19: 42,596,778 (GRCm39)	L78I	probably benign	Het
Mbd5	A	T	2: 49,164,779 (GRCm39)	N360I	probably damaging	Het
Nfat5	A	T	8: 108,088,450 (GRCm39)	M495L	probably benign	Het
Nrxn3	A	T	12: 88,762,565 (GRCm39)	E204V	possibly damaging	Het
Or8k21	G	T	2: 86,145,137 (GRCm39)	F164L	possibly damaging	Het
Paqr4	A	T	17: 23,958,886 (GRCm39)	C38*	probably null	Het
Pcdhb13	T	A	18: 37,577,282 (GRCm39)	N553K	probably damaging	Het
Pcdhb9	T	A	18: 37,534,810 (GRCm39)	M268K	probably benign	Het
Pdap1	A	T	5: 145,071,869 (GRCm39)		probably benign	Het
Phf2	A	T	13: 48,975,118 (GRCm39)	Y281N	unknown	Het
Phka2	T	A	X: 159,347,209 (GRCm39)	I664N	possibly damaging	Het
Plekha7	A	T	7: 115,739,936 (GRCm39)	D762E	possibly damaging	Het
Plekhg4	T	A	8: 106,105,884 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,740,706 (GRCm39)	Q1006L	probably null	Het
Pramel12	C	A	4: 143,144,421 (GRCm39)	Q256K	probably benign	Het
Prmt5	G	A	14: 54,748,477 (GRCm39)	Q197*	probably null	Het
Prodh	A	T	16: 17,897,049 (GRCm39)		probably null	Het
Ptgr3	T	A	18: 84,113,390 (GRCm39)	Y355*	probably null	Het
Rnft2	A	G	5: 118,380,587 (GRCm39)		probably benign	Het
Rp1l1	G	T	14: 64,266,985 (GRCm39)	S857I	probably damaging	Het
Samd9l	A	G	6: 3,372,992 (GRCm39)	F1423S	probably damaging	Het
Scn3a	A	G	2: 65,291,854 (GRCm39)	Y1631H	probably damaging	Het
Slc22a5	A	T	11: 53,765,899 (GRCm39)	I229K	probably damaging	Het
Slco1a7	T	C	6: 141,684,615 (GRCm39)	D280G	probably benign	Het
Snd1	T	A	6: 28,526,220 (GRCm39)		probably benign	Het
Srrm1	G	T	4: 135,074,518 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,874 (GRCm39)	V5252A	probably damaging	Het
Tek	A	G	4: 94,627,882 (GRCm39)	D2G	probably benign	Het
Uba1	T	C	X: 20,545,964 (GRCm39)	S803P	probably damaging	Het
Uggt2	A	G	14: 119,326,605 (GRCm39)	I202T	possibly damaging	Het
Umodl1	A	T	17: 31,206,888 (GRCm39)	I760F	probably benign	Het
Vgll1	A	G	X: 56,144,569 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,676,276 (GRCm39)	V347A	probably benign	Het
Zswim9	T	C	7: 12,994,608 (GRCm39)	E516G	probably damaging	Het

Other mutations in H2-M10.1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01909:H2-M10.1	APN	17	36,635,971 (GRCm39)	nonsense	probably null
R1572:H2-M10.1	UTSW	17	36,636,625 (GRCm39)	missense	possibly damaging	0.64
R1651:H2-M10.1	UTSW	17	36,636,648 (GRCm39)	missense	probably damaging	1.00
R2049:H2-M10.1	UTSW	17	36,636,108 (GRCm39)	missense	possibly damaging	0.68
R2251:H2-M10.1	UTSW	17	36,636,498 (GRCm39)	missense	probably damaging	1.00
R3508:H2-M10.1	UTSW	17	36,636,506 (GRCm39)	missense	possibly damaging	0.59
R3762:H2-M10.1	UTSW	17	36,636,216 (GRCm39)	missense	probably damaging	1.00
R3892:H2-M10.1	UTSW	17	36,635,281 (GRCm39)	missense	possibly damaging	0.61
R3922:H2-M10.1	UTSW	17	36,636,577 (GRCm39)	missense	probably benign
R5120:H2-M10.1	UTSW	17	36,636,048 (GRCm39)	missense	probably benign
R6258:H2-M10.1	UTSW	17	36,634,994 (GRCm39)	missense	unknown
R6260:H2-M10.1	UTSW	17	36,634,994 (GRCm39)	missense	unknown
R6988:H2-M10.1	UTSW	17	36,636,484 (GRCm39)	missense	probably benign
R7291:H2-M10.1	UTSW	17	36,636,621 (GRCm39)	missense	probably damaging	1.00
R8229:H2-M10.1	UTSW	17	36,634,931 (GRCm39)	missense	probably benign	0.23
R9309:H2-M10.1	UTSW	17	36,636,525 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07