Mutagenetix > Incidental Mutation

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

067755-MU

Accession Numbers

Essential gene?

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

Stock #

R8390 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37083802-37087126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37085487 bp (GRCm39)

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]

AlphaFold

Q85ZW7

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: 113,830,841 (GRCm39)	F50I	unknown	Het
Abca9	A	T	11: 110,036,456 (GRCm39)	M551K	probably benign	Het
Adgrl3	T	C	5: 81,914,057 (GRCm39)	S1145P	probably damaging	Het
Brix1	C	T	15: 10,485,954 (GRCm39)	R9H	probably benign	Het
C1d	T	C	11: 17,213,993 (GRCm39)	V83A	probably damaging	Het
Ciz1	G	T	2: 32,257,335 (GRCm39)	V127L	probably benign	Het
Csnk1g3	A	T	18: 54,081,150 (GRCm39)	T374S	probably benign	Het
Elavl1	T	A	8: 4,339,623 (GRCm39)	K320*	probably null	Het
Foxn3	T	A	12: 99,355,000 (GRCm39)	M55L	probably benign	Het
Gm14399	A	T	2: 174,972,605 (GRCm39)	Y383*	probably null	Het
Hsd17b13	C	A	5: 104,120,512 (GRCm39)	C80F	probably damaging	Het
Ifi206	G	T	1: 173,308,511 (GRCm39)	T495N		Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Ipo13	A	T	4: 117,769,534 (GRCm39)	I86N	probably damaging	Het
Iqcf3	T	G	9: 106,438,175 (GRCm39)	E16A	unknown	Het
Kcnh5	T	A	12: 75,134,532 (GRCm39)	D339V	probably damaging	Het
Lmbr1	C	T	5: 29,440,040 (GRCm39)	M441I	probably benign	Het
Me3	G	T	7: 89,498,803 (GRCm39)	G461V	probably damaging	Het
Mepce	A	G	5: 137,783,441 (GRCm39)	L295P	possibly damaging	Het
Mtpap	T	A	18: 4,396,141 (GRCm39)	Y478N	probably damaging	Het
Myl12a	T	C	17: 71,303,231 (GRCm39)	M74V	probably benign	Het
Neil3	A	T	8: 54,062,559 (GRCm39)	M99K	probably damaging	Het
Nlrp3	A	G	11: 59,442,616 (GRCm39)	T723A	possibly damaging	Het
Obscn	A	T	11: 58,892,870 (GRCm39)	I6792N	probably benign	Het
Or13a19	G	T	7: 139,903,027 (GRCm39)	W138C	possibly damaging	Het
Or2d2	A	G	7: 106,728,522 (GRCm39)	L26P	probably benign	Het
Or5al7	A	G	2: 85,993,266 (GRCm39)	V9A	possibly damaging	Het
Or8b49	T	A	9: 38,505,887 (GRCm39)	Y123*	probably null	Het
Or8h10	G	A	2: 86,808,501 (GRCm39)	T213I	probably benign	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pitx2	C	A	3: 129,012,507 (GRCm39)	N312K	probably damaging	Het
Pot1b	C	A	17: 55,999,739 (GRCm39)	V229L	probably benign	Het
Psmd1	A	G	1: 86,006,329 (GRCm39)	I232V	possibly damaging	Het
Rif1	A	G	2: 52,000,935 (GRCm39)	E1463G	probably damaging	Het
Scn5a	T	A	9: 119,368,604 (GRCm39)	Y307F	possibly damaging	Het
Shprh	G	A	10: 11,063,727 (GRCm39)	E1267K	possibly damaging	Het
Smtnl1	A	T	2: 84,645,694 (GRCm39)	Y392*	probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,444,896 (GRCm39)	G2268R	probably benign	Het
Tex47	G	A	5: 7,355,301 (GRCm39)	E161K	probably benign	Het
Timd6	G	T	11: 46,468,082 (GRCm39)	R52L	probably damaging	Het
Tmem236	T	C	2: 14,224,168 (GRCm39)	L319P	probably damaging	Het
Tnk1	T	C	11: 69,742,695 (GRCm39)	T606A	possibly damaging	Het
Tnrc6a	A	G	7: 122,761,794 (GRCm39)	T81A	probably damaging	Het
Trav6d-4	A	T	14: 52,991,092 (GRCm39)	T46S	probably benign	Het
Wdr19	T	A	5: 65,381,210 (GRCm39)	Y411*	probably null	Het
Zfp553	A	G	7: 126,835,476 (GRCm39)	T344A	probably damaging	Het
Zfp62	G	A	11: 49,106,019 (GRCm39)	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	37,084,227 (GRCm39)	missense	possibly damaging	0.86
IGL01562:H2-M10.5	APN	17	37,084,668 (GRCm39)	missense	possibly damaging	0.53
IGL01878:H2-M10.5	APN	17	37,084,708 (GRCm39)	missense	probably damaging	1.00
IGL03271:H2-M10.5	APN	17	37,084,243 (GRCm39)	missense	possibly damaging	0.86
IGL03377:H2-M10.5	APN	17	37,084,377 (GRCm39)	missense	probably benign	0.11
R0555:H2-M10.5	UTSW	17	37,085,620 (GRCm39)	missense	probably damaging	1.00
R1556:H2-M10.5	UTSW	17	37,084,205 (GRCm39)	missense	probably damaging	1.00
R1815:H2-M10.5	UTSW	17	37,084,836 (GRCm39)	missense	probably damaging	1.00
R1913:H2-M10.5	UTSW	17	37,085,660 (GRCm39)	missense	probably damaging	1.00
R2420:H2-M10.5	UTSW	17	37,085,891 (GRCm39)	missense	probably benign	0.23
R2421:H2-M10.5	UTSW	17	37,085,891 (GRCm39)	missense	probably benign	0.23
R2422:H2-M10.5	UTSW	17	37,085,891 (GRCm39)	missense	probably benign	0.23
R5668:H2-M10.5	UTSW	17	37,085,473 (GRCm39)	missense	probably damaging	0.99
R7694:H2-M10.5	UTSW	17	37,084,641 (GRCm39)	missense	probably damaging	1.00
R8441:H2-M10.5	UTSW	17	37,084,199 (GRCm39)	missense	probably benign	0.14
R8497:H2-M10.5	UTSW	17	37,084,729 (GRCm39)	missense	probably damaging	1.00
R8960:H2-M10.5	UTSW	17	37,084,770 (GRCm39)	missense	probably benign	0.23
R9016:H2-M10.5	UTSW	17	37,084,226 (GRCm39)	missense	possibly damaging	0.86

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