Mutagenetix > Incidental Mutations

Incidental Mutation 'R8910:H2-M2'

678585

Institutional Source

Beutler Lab

Gene Symbol

H2-M2

Ensembl Gene

ENSMUSG00000016283

Gene Name

histocompatibility 2, M region locus 2

Synonyms

Thy19.4, H-2M2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R8910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37480851-37483552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37481522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 286 (T286I)

Ref Sequence

ENSEMBL: ENSMUSP00000131297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016427] [ENSMUST00000171139]

AlphaFold

Q6W9L1

Predicted Effect

probably damaging
Transcript: ENSMUST00000016427
AA Change: T286I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000016427
Gene: ENSMUSG00000016283
AA Change: T286I

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:MHC_I	29	207	1.6e-77	PFAM
IGc1	226	297	2.11e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171139
AA Change: T286I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131297
Gene: ENSMUSG00000016283
AA Change: T286I

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:MHC_I	29	207	7.1e-76	PFAM
IGc1	226	297	2.11e-20	SMART
transmembrane domain	308	330	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,323,649	I1058V	probably benign	Het
3830406C13Rik	A	G	14: 12,285,444	H10R	probably benign	Het
Abca5	T	C	11: 110,298,204	E809G	probably damaging	Het
Akap12	A	T	10: 4,313,822	Q77L	probably benign	Het
Aldh5a1	A	G	13: 24,918,616	V288A	probably damaging	Het
Alox5	C	A	6: 116,412,549	E586*	probably null	Het
Arid5b	A	G	10: 68,098,278	F598S		Het
Btc	A	C	5: 91,360,812	M157R	probably benign	Het
Cadps2	T	C	6: 23,344,224	N908S	probably benign	Het
Cd244	C	A	1: 171,559,373	H17N	probably damaging	Het
Cdh15	T	C	8: 122,848,501	L5P	probably benign	Het
Cept1	A	C	3: 106,539,249	S94A	probably benign	Het
Cntn4	T	C	6: 106,655,536	M507T	probably benign	Het
Cpne4	A	G	9: 104,922,507		probably benign	Het
Dffb	T	C	4: 153,972,959	D87G	possibly damaging	Het
Dlgap1	C	T	17: 70,786,820	T712I	probably damaging	Het
Dnhd1	A	C	7: 105,683,697	H155P	possibly damaging	Het
Dpyd	A	G	3: 118,610,518	K38R	probably benign	Het
Evx1	C	T	6: 52,316,761	R305C	probably damaging	Het
Ezr	A	G	17: 6,755,900	L47P	probably damaging	Het
Fabp6	C	T	11: 43,601,508	A2T	possibly damaging	Het
Fam78a	G	A	2: 32,069,669	T143M	probably damaging	Het
Fam83h	C	T	15: 76,002,995	G831D	probably benign	Het
Fermt2	G	A	14: 45,464,932	A465V	probably damaging	Het
Fras1	T	C	5: 96,567,996	S358P	probably benign	Het
Frem1	C	A	4: 82,950,457	G1429V	probably benign	Het
Fst	T	A	13: 114,453,709		probably benign	Het
Gfpt1	T	C	6: 87,053,805	I57T	probably benign	Het
Gimap6	A	G	6: 48,702,454	I216T	probably damaging	Het
Gm10267	T	A	18: 44,156,444	N73I	possibly damaging	Het
Gm21188	T	A	13: 120,046,820		probably benign	Het
Hgs	T	C	11: 120,478,376		probably null	Het
Klra6	T	C	6: 130,016,684	E208G	probably benign	Het
L3mbtl1	A	T	2: 162,970,293	T753S	probably benign	Het
Larp6	A	G	9: 60,713,243	E13G	probably benign	Het
Mroh2b	A	G	15: 4,931,373	I806V	probably benign	Het
Myo1g	T	C	11: 6,518,009	N142S	possibly damaging	Het
Myo3a	A	G	2: 22,574,268	T1112A	probably benign	Het
Olfr1272	C	A	2: 90,296,504	R119L	possibly damaging	Het
Pelp1	A	T	11: 70,396,635	M449K	probably damaging	Het
Ppp4r1	T	C	17: 65,837,773	V795A	probably damaging	Het
Ppp4r3b	G	T	11: 29,196,290	M372I	probably null	Het
Ptprk	T	C	10: 28,492,997	V655A	possibly damaging	Het
Rad51d	T	C	11: 82,882,967	R166G	probably damaging	Het
Rbm19	T	A	5: 120,133,779	Y650N	probably damaging	Het
Rreb1	A	G	13: 37,948,765	K204E		Het
Ryr1	A	G	7: 29,071,915	L2567P	probably damaging	Het
Scn3a	T	A	2: 65,508,539	S599C	probably damaging	Het
Slc7a15	T	A	12: 8,539,117		probably benign	Het
Taf6	T	C	5: 138,184,454	T12A	probably benign	Het
Tbc1d10b	T	C	7: 127,207,766	T200A	probably benign	Het
Tex21	C	T	12: 76,216,759		probably benign	Het
Thap4	T	C	1: 93,714,944	H515R	probably damaging	Het
Tmem94	A	G	11: 115,797,426	Q1237R	probably damaging	Het
Tppp3	A	G	8: 105,468,292	V69A	probably benign	Het
Unc5a	A	G	13: 55,003,588	E695G	possibly damaging	Het
Wtip	G	A	7: 34,132,638	P141L	possibly damaging	Het
Wwp1	A	T	4: 19,627,741	M718K	possibly damaging	Het
Zbtb25	A	C	12: 76,349,134	V438G	probably damaging	Het
Zfp444	T	C	7: 6,184,027	L46P	probably damaging	Het
Zfp521	T	C	18: 13,844,176	H1060R	probably benign	Het
Zkscan14	A	G	5: 145,195,380	F447S	probably damaging	Het

Other mutations in H2-M2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01683:H2-M2	APN	17	37481515	missense	possibly damaging	0.95
Lock	UTSW	17	37481508	missense	probably damaging	1.00
Nokia	UTSW	17	37481306	missense	possibly damaging	0.59
R0799:H2-M2	UTSW	17	37482749	missense	probably damaging	1.00
R0981:H2-M2	UTSW	17	37482630	missense	probably benign	0.02
R1925:H2-M2	UTSW	17	37482500	missense	probably damaging	0.98
R2959:H2-M2	UTSW	17	37483454	missense	probably benign	0.20
R3968:H2-M2	UTSW	17	37481306	missense	possibly damaging	0.59
R4063:H2-M2	UTSW	17	37481508	missense	probably damaging	1.00
R4735:H2-M2	UTSW	17	37483244	missense	possibly damaging	0.91
R5806:H2-M2	UTSW	17	37481726	missense	probably damaging	1.00
R6410:H2-M2	UTSW	17	37483213	missense	probably damaging	1.00
R7432:H2-M2	UTSW	17	37481470	critical splice donor site	probably null
R7456:H2-M2	UTSW	17	37481661	missense	possibly damaging	0.60
R7535:H2-M2	UTSW	17	37482637	missense	probably benign	0.07
R7680:H2-M2	UTSW	17	37483025	missense	possibly damaging	0.56
R8112:H2-M2	UTSW	17	37483492	missense	unknown
R9034:H2-M2	UTSW	17	37481285	missense	probably benign	0.05
R9193:H2-M2	UTSW	17	37482537	missense	probably benign	0.00
R9420:H2-M2	UTSW	17	37481324	missense	not run

Predicted Primers

PCR Primer
(F):5'- AGGCCAACAGCAACTATTATGATG -3'
(R):5'- CCAAAGGCATATGTGACCCATC -3'

Sequencing Primer
(F):5'- TGAAAGACTGAGGAGGTCTACC -3'
(R):5'- TCACCCCAGACCTGAAGG -3'

Posted On

2021-08-02