Mutagenetix > Incidental Mutations

Incidental Mutation 'R8390:H2-M10.5'

647348

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

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R8390 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36772910-36776234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36774595 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 215 (H215Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047766 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000041531
AA Change: H215Q

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047766
Gene: ENSMUSG00000037246
AA Change: H215Q

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: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,692,780	F50I	unknown	Het
Abca9	A	T	11: 110,145,630	M551K	probably benign	Het
Adgrl3	T	C	5: 81,766,210	S1145P	probably damaging	Het
BC053393	G	T	11: 46,577,255	R52L	probably damaging	Het
Brix1	C	T	15: 10,485,868	R9H	probably benign	Het
C1d	T	C	11: 17,263,993	V83A	probably damaging	Het
Ciz1	G	T	2: 32,367,323	V127L	probably benign	Het
Csnk1g3	A	T	18: 53,948,078	T374S	probably benign	Het
Elavl1	T	A	8: 4,289,623	K320*	probably null	Het
Foxn3	T	A	12: 99,388,741	M55L	probably benign	Het
Gm14399	A	T	2: 175,130,812	Y383*	probably null	Het
Hsd17b13	C	A	5: 103,972,646	C80F	probably damaging	Het
Ifi206	G	T	1: 173,480,945	T495N		Het
Ifi207	GTT	GT	1: 173,729,450		probably null	Het
Ipo13	A	T	4: 117,912,337	I86N	probably damaging	Het
Iqcf3	T	G	9: 106,560,976	E16A	unknown	Het
Kcnh5	T	A	12: 75,087,758	D339V	probably damaging	Het
Lmbr1	C	T	5: 29,235,042	M441I	probably benign	Het
Me3	G	T	7: 89,849,595	G461V	probably damaging	Het
Mepce	A	G	5: 137,785,179	L295P	possibly damaging	Het
Mtpap	T	A	18: 4,396,141	Y478N	probably damaging	Het
Myl12a	T	C	17: 70,996,236	M74V	probably benign	Het
Neil3	A	T	8: 53,609,524	M99K	probably damaging	Het
Nlrp3	A	G	11: 59,551,790	T723A	possibly damaging	Het
Obscn	A	T	11: 59,002,044	I6792N	probably benign	Het
Olfr1043	A	G	2: 86,162,922	V9A	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157	T213I	probably benign	Het
Olfr525	G	T	7: 140,323,114	W138C	possibly damaging	Het
Olfr715	A	G	7: 107,129,315	L26P	probably benign	Het
Olfr913	T	A	9: 38,594,591	Y123*	probably null	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Pitx2	C	A	3: 129,218,858	N312K	probably damaging	Het
Pot1b	C	A	17: 55,692,739	V229L	probably benign	Het
Psmd1	A	G	1: 86,078,607	I232V	possibly damaging	Het
Rif1	A	G	2: 52,110,923	E1463G	probably damaging	Het
Scn5a	T	A	9: 119,539,538	Y307F	possibly damaging	Het
Shprh	G	A	10: 11,187,983	E1267K	possibly damaging	Het
Smtnl1	A	T	2: 84,815,350	Y392*	probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Sspo	G	A	6: 48,467,962	G2268R	probably benign	Het
Tex47	G	A	5: 7,305,301	E161K	probably benign	Het
Tmem236	T	C	2: 14,219,357	L319P	probably damaging	Het
Tnk1	T	C	11: 69,851,869	T606A	possibly damaging	Het
Tnrc6a	A	G	7: 123,162,571	T81A	probably damaging	Het
Trav6d-4	A	T	14: 52,753,635	T46S	probably benign	Het
Wdr19	T	A	5: 65,223,867	Y411*	probably null	Het
Zfp553	A	G	7: 127,236,304	T344A	probably damaging	Het
Zfp62	G	A	11: 49,215,192	G37S	probably benign	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
R8441:H2-M10.5	UTSW	17	36773307	missense	probably benign	0.14
R8497:H2-M10.5	UTSW	17	36773837	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGATCCTGAGTGTAGGCTTC -3'
(R):5'- TCAGGTAACCCTTTATGGTGC -3'

Sequencing Primer
(F):5'- GCTTCTGTGTGGACTCTGCTC -3'
(R):5'- GGTAACCCTTTATGGTGCACATGAC -3'

Posted On

2020-09-02