Mutagenetix > Incidental Mutation

Incidental Mutation 'R9687:H2-M10.6'

728940

Institutional Source

Beutler Lab

Gene Symbol

H2-M10.6

Ensembl Gene

ENSMUSG00000037130

Gene Name

histocompatibility 2, M region locus 10.6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36812171-36815564 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36814255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 313 (V313I)

Ref Sequence

ENSEMBL: ENSMUSP00000039908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041398]

AlphaFold

Q85ZW5

Predicted Effect

probably benign
Transcript: ENSMUST00000041398
AA Change: V313I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000039908
Gene: ENSMUSG00000037130
AA Change: V313I

Domain	Start	End	E-Value	Type
Pfam:MHC_I	24	202	2.2e-47	PFAM
IGc1	221	292	9.31e-22	SMART
transmembrane domain	305	327	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,948,422 (GRCm38)	L446P	probably damaging	Het
Abcc9	T	C	6: 142,633,163 (GRCm38)	T927A	probably benign	Het
Abraxas2	A	G	7: 132,880,848 (GRCm38)	T258A	probably benign	Het
Akna	A	T	4: 63,374,437 (GRCm38)	C1078*	probably null	Het
Arhgap24	T	A	5: 102,846,156 (GRCm38)	F34L	probably benign	Het
Cpa5	C	T	6: 30,614,042 (GRCm38)	T61I	probably benign	Het
Crebrf	A	G	17: 26,763,627 (GRCm38)	*654W	probably null	Het
Dchs1	C	A	7: 105,757,984 (GRCm38)	R2134L	probably damaging	Het
Dcps	T	C	9: 35,124,682 (GRCm38)	N303D	probably damaging	Het
Ddhd1	C	T	14: 45,610,733 (GRCm38)	E527K	probably damaging	Het
Dnah14	T	A	1: 181,598,413 (GRCm38)	M174K	probably benign	Het
Ehd1	A	G	19: 6,298,300 (GRCm38)	D436G		Het
Epha8	G	T	4: 136,938,586 (GRCm38)	L420M	probably damaging	Het
Etv1	T	C	12: 38,861,362 (GRCm38)	Y396H	probably damaging	Het
Fam189a2	A	G	19: 23,979,665 (GRCm38)	I327T	probably damaging	Het
Fbxo11	A	G	17: 88,009,066 (GRCm38)	I293T		Het
Gcfc2	T	A	6: 81,941,342 (GRCm38)	S338T	probably damaging	Het
Gm10272	T	C	10: 77,706,930 (GRCm38)	V102A	possibly damaging	Het
Gm11110	T	C	17: 57,103,439 (GRCm38)	T20A	unknown	Het
Gm17359	G	A	3: 79,429,992 (GRCm38)	D36N	possibly damaging	Het
Gna14	G	A	19: 16,604,986 (GRCm38)	R206Q		Het
Gpm6a	T	C	8: 55,050,174 (GRCm38)	Y153H	possibly damaging	Het
Grip1	G	A	10: 120,038,664 (GRCm38)	E778K	possibly damaging	Het
Igkv8-19	T	C	6: 70,341,021 (GRCm38)	I74V	probably benign	Het
Kif24	A	G	4: 41,428,546 (GRCm38)	L138P	probably damaging	Het
Kif26a	A	G	12: 112,177,191 (GRCm38)	E1293G	probably damaging	Het
Lrp1	A	C	10: 127,566,693 (GRCm38)	L2203R	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442 (GRCm38)	D35G	possibly damaging	Het
Myo1h	A	T	5: 114,320,708 (GRCm38)	D184V		Het
Ncdn	G	A	4: 126,748,674 (GRCm38)	R397W	probably damaging	Het
Ncor1	A	T	11: 62,369,367 (GRCm38)	I519N	possibly damaging	Het
Obsl1	A	G	1: 75,503,026 (GRCm38)	V575A	probably damaging	Het
Olfr1031	G	T	2: 85,991,876 (GRCm38)	V20L	probably benign	Het
Olfr1351	T	A	10: 79,018,009 (GRCm38)	I229N	probably damaging	Het
Olfr1387	T	C	11: 49,459,691 (GRCm38)	F4S	probably benign	Het
Osbpl5	A	G	7: 143,693,861 (GRCm38)	Y747H	possibly damaging	Het
Pcdh18	T	A	3: 49,756,587 (GRCm38)	D93V	probably damaging	Het
Ppef2	T	A	5: 92,238,887 (GRCm38)	D397V	probably benign	Het
Ppfia4	G	A	1: 134,317,956 (GRCm38)	T620I	probably benign	Het
Ppp1r9a	T	C	6: 4,905,978 (GRCm38)	S178P	probably damaging	Het
Ptchd4	A	G	17: 42,502,576 (GRCm38)	Y456C	probably damaging	Het
Pxk	A	G	14: 8,151,567 (GRCm38)	I461V	possibly damaging	Het
Rab18	T	A	18: 6,784,622 (GRCm38)	N104K	probably benign	Het
Sars	A	G	3: 108,435,905 (GRCm38)	L90P	probably benign	Het
Scaf8	T	A	17: 3,171,135 (GRCm38)	I299N	unknown	Het
Sh3bp2	C	T	5: 34,559,633 (GRCm38)	P463S	probably benign	Het
Slc12a3	A	G	8: 94,348,580 (GRCm38)	N734S	possibly damaging	Het
Slc12a7	G	T	13: 73,790,677 (GRCm38)	R191L	probably damaging	Het
Slc7a12	A	G	3: 14,480,900 (GRCm38)	Y35C	possibly damaging	Het
Susd4	A	G	1: 182,895,197 (GRCm38)		probably null	Het
Taar7f	G	A	10: 24,049,829 (GRCm38)	R107K	probably benign	Het
Tarm1	T	C	7: 3,495,941 (GRCm38)	T237A	probably benign	Het
Tshr	C	A	12: 91,537,665 (GRCm38)	A459E	probably damaging	Het
Tubgcp5	G	T	7: 55,825,579 (GRCm38)		probably null	Het
Unc13b	T	C	4: 43,174,920 (GRCm38)	V1916A	unknown	Het
Unc45b	A	G	11: 82,919,736 (GRCm38)	D274G	probably damaging	Het
Vmn1r230	T	A	17: 20,847,342 (GRCm38)	Y264*	probably null	Het
Vmn2r109	G	T	17: 20,555,070 (GRCm38)	Q132K		Het
Zbtb20	A	G	16: 43,609,797 (GRCm38)	S151G	possibly damaging	Het
Zbtb22	A	C	17: 33,917,876 (GRCm38)	T332P	probably damaging	Het
Zc3h6	A	G	2: 129,017,361 (GRCm38)	D1104G	probably damaging	Het
Zfp748	A	G	13: 67,542,352 (GRCm38)	V263A	probably benign	Het
Zhx3	A	C	2: 160,781,758 (GRCm38)	V163G	probably benign	Het

Other mutations in H2-M10.6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:H2-M10.6	APN	17	36,812,220 (GRCm38)	missense	probably benign	0.13
IGL01590:H2-M10.6	APN	17	36,812,749 (GRCm38)	missense	probably benign	0.05
IGL03200:H2-M10.6	APN	17	36,814,016 (GRCm38)	missense	probably damaging	1.00
IGL03278:H2-M10.6	APN	17	36,813,823 (GRCm38)	missense	probably damaging	0.99
R0018:H2-M10.6	UTSW	17	36,814,049 (GRCm38)	missense	probably damaging	1.00
R0144:H2-M10.6	UTSW	17	36,812,241 (GRCm38)	missense	probably damaging	0.99
R0194:H2-M10.6	UTSW	17	36,814,042 (GRCm38)	missense	probably damaging	1.00
R1168:H2-M10.6	UTSW	17	36,813,160 (GRCm38)	missense	probably benign
R1757:H2-M10.6	UTSW	17	36,813,151 (GRCm38)	missense	probably benign	0.00
R1773:H2-M10.6	UTSW	17	36,812,184 (GRCm38)	missense	probably benign	0.00
R2029:H2-M10.6	UTSW	17	36,813,907 (GRCm38)	missense	possibly damaging	0.47
R3409:H2-M10.6	UTSW	17	36,814,001 (GRCm38)	missense	probably damaging	1.00
R3856:H2-M10.6	UTSW	17	36,812,504 (GRCm38)	missense	probably benign	0.18
R4373:H2-M10.6	UTSW	17	36,813,066 (GRCm38)	missense	probably damaging	1.00
R4869:H2-M10.6	UTSW	17	36,812,533 (GRCm38)	missense	probably benign	0.04
R5684:H2-M10.6	UTSW	17	36,813,854 (GRCm38)	missense	probably damaging	1.00
R6020:H2-M10.6	UTSW	17	36,813,067 (GRCm38)	missense	probably damaging	1.00
R6180:H2-M10.6	UTSW	17	36,814,286 (GRCm38)	missense	probably damaging	1.00
R6328:H2-M10.6	UTSW	17	36,813,944 (GRCm38)	missense	probably damaging	0.96
R8245:H2-M10.6	UTSW	17	36,813,263 (GRCm38)	critical splice donor site	probably null
R9705:H2-M10.6	UTSW	17	36,812,750 (GRCm38)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CCACTCACTCTGAAATGGGG -3'
(R):5'- TCTATCAAGAGGGCAGTGGAC -3'

Sequencing Primer
(F):5'- CCACTCACTCTGAAATGGGGTAAGG -3'
(R):5'- GGGCAGTGGACCTTTCTATATTTCC -3'

Posted On

2022-10-06