Mutagenetix > Incidental Mutation

Incidental Mutation 'R8441:H2-M10.5'

654227

Institutional Source

Beutler Lab

Gene Symbol

H2-M10.5

Ensembl Gene

ENSMUSG00000037246

Gene Name

histocompatibility 2, M region locus 10.5

Synonyms

6.9H

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8441 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36772910-36776234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36773307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 54 (I54L)

Ref Sequence

ENSEMBL: ENSMUSP00000047766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041531]

AlphaFold

Q85ZW7

Predicted Effect

probably benign
Transcript: ENSMUST00000041531
AA Change: I54L

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047766
Gene: ENSMUSG00000037246
AA Change: I54L

Domain	Start	End	E-Value	Type
Pfam:MHC_I	24	202	8.6e-44	PFAM
IGc1	221	292	5.56e-20	SMART
transmembrane domain	305	327	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,257,230	Y1064H	possibly damaging	Het
Ahrr	T	C	13: 74,214,063	D567G	probably benign	Het
Aldh1b1	T	A	4: 45,802,465	M1K	probably null	Het
Ankrd12	A	T	17: 66,042,551	S96T	probably benign	Het
Arhgef10	A	T	8: 14,991,237		probably benign	Het
BB287469	T	G	12: 87,819,614	D98E	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Cmpk2	G	A	12: 26,477,205	A398T	probably benign	Het
Cpn2	A	G	16: 30,260,031	L284P	probably damaging	Het
Cubn	T	C	2: 13,427,847	D1221G	probably damaging	Het
Dnah7c	A	G	1: 46,533,238	K957R	probably damaging	Het
Flnb	T	A	14: 7,896,488	V893E	probably benign	Het
Flrt3	C	A	2: 140,660,626	V361L	probably benign	Het
Fnta	G	A	8: 26,011,181	R104*	probably null	Het
Ggt1	C	T	10: 75,579,351	T233I	possibly damaging	Het
Gm15448	C	A	7: 3,823,302	E231*	probably null	Het
Gpr37l1	A	T	1: 135,167,137	V123E	probably damaging	Het
Grpel1	A	G	5: 36,465,212	R7G	probably benign	Het
Mapk8ip3	A	T	17: 24,920,500		probably benign	Het
Mcm3	T	C	1: 20,814,466	D271G	probably benign	Het
Naip6	A	G	13: 100,285,757	V1256A	possibly damaging	Het
Nipbl	A	G	15: 8,293,115	V2604A	probably benign	Het
Nlrp1b	T	A	11: 71,182,378	D213V	probably damaging	Het
Npbwr1	G	A	1: 5,917,178	A39V	possibly damaging	Het
Nr6a1	T	C	2: 38,742,876	D191G	probably benign	Het
Olfml1	T	G	7: 107,567,770	V2G	probably benign	Het
Olfr1282	A	T	2: 111,335,786	Y97*	probably null	Het
Olfr1458	T	A	19: 13,102,656	Y216F	probably damaging	Het
Otof	T	C	5: 30,380,856	K1175E	probably damaging	Het
Plekhg2	C	T	7: 28,360,866	V989I	probably benign	Het
Prkcq	A	G	2: 11,248,226	D229G	probably benign	Het
Ptprf	A	T	4: 118,218,058		probably benign	Het
Rest	G	T	5: 77,281,919	Q728H	possibly damaging	Het
Scube1	A	T	15: 83,610,222	I868N	probably damaging	Het
Spcs3	A	G	8: 54,528,340		probably null	Het
Speg	A	G	1: 75,411,332	S1445G	possibly damaging	Het
Theg	C	A	10: 79,576,676	R327L	probably damaging	Het
Tmem145	T	C	7: 25,308,775	F261S	possibly damaging	Het
Trav9d-4	A	G	14: 52,983,827	S93G	probably benign	Het
Trbv5	T	A	6: 41,062,583	C41S	probably damaging	Het
Trpm5	A	G	7: 143,072,434	S1131P	possibly damaging	Het
Ttc28	C	T	5: 111,177,641	R313*	probably null	Het
Ubap2l	T	C	3: 90,012,700	T853A	unknown	Het
Xirp2	T	C	2: 67,512,815	V1800A	possibly damaging	Het
Zfhx2	A	G	14: 55,066,528	L1333P	possibly damaging	Het

Other mutations in H2-M10.5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:H2-M10.5	APN	17	36773335	missense	possibly damaging	0.86
IGL01562:H2-M10.5	APN	17	36773776	missense	possibly damaging	0.53
IGL01878:H2-M10.5	APN	17	36773816	missense	probably damaging	1.00
IGL03271:H2-M10.5	APN	17	36773351	missense	possibly damaging	0.86
IGL03377:H2-M10.5	APN	17	36773485	missense	probably benign	0.11
R0555:H2-M10.5	UTSW	17	36774728	missense	probably damaging	1.00
R1556:H2-M10.5	UTSW	17	36773313	missense	probably damaging	1.00
R1815:H2-M10.5	UTSW	17	36773944	missense	probably damaging	1.00
R1913:H2-M10.5	UTSW	17	36774768	missense	probably damaging	1.00
R2420:H2-M10.5	UTSW	17	36774999	missense	probably benign	0.23
R2421:H2-M10.5	UTSW	17	36774999	missense	probably benign	0.23
R2422:H2-M10.5	UTSW	17	36774999	missense	probably benign	0.23
R5668:H2-M10.5	UTSW	17	36774581	missense	probably damaging	0.99
R7694:H2-M10.5	UTSW	17	36773749	missense	probably damaging	1.00
R8390:H2-M10.5	UTSW	17	36774595	missense	probably benign	0.10
R8497:H2-M10.5	UTSW	17	36773837	missense	probably damaging	1.00
R8960:H2-M10.5	UTSW	17	36773878	missense	probably benign	0.23
R9016:H2-M10.5	UTSW	17	36773334	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TCAGGTCCATAGGCATACCACC -3'
(R):5'- ATTTGTCATGACCTCAGAGCTG -3'

Sequencing Primer
(F):5'- TAGGCATACCACCACCCCTG -3'
(R):5'- GGTGACTCACCGTCCATTC -3'

Posted On

2020-10-20