Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:H2-M1'

507679

Institutional Source

Beutler Lab

Gene Symbol

H2-M1

Ensembl Gene

ENSMUSG00000037334

Gene Name

histocompatibility 2, M region locus 1

Synonyms

H-2M1, Mb1

MMRRC Submission

044446-MU

Accession Numbers

Essential gene?

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

Stock #

R6276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36670008-36672219 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36671710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 86 (T86M)

Ref Sequence

ENSEMBL: ENSMUSP00000040435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041662]

AlphaFold

F7CXU4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041662
AA Change: T86M

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040435
Gene: ENSMUSG00000037334
AA Change: T86M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MHC_I	25	202	7.1e-47	PFAM
IGc1	221	292	3.53e-22	SMART
transmembrane domain	310	332	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	A	11: 58,446,366 (GRCm38)	I94L	possibly damaging	Het
4931406P16Rik	A	T	7: 34,242,377 (GRCm38)	Y627*	probably null	Het
Actr3	A	T	1: 125,395,137 (GRCm38)	D364E	probably benign	Het
Adra2c	C	T	5: 35,280,079 (GRCm38)	T65I	probably damaging	Het
Agap2	T	A	10: 127,089,360 (GRCm38)		probably null	Het
Ager	T	C	17: 34,598,754 (GRCm38)	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,737,536 (GRCm38)	I288M	probably benign	Het
Arhgap45	A	T	10: 80,026,234 (GRCm38)	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043 (GRCm38)	Y426C	probably damaging	Het
Azi2	C	T	9: 118,049,338 (GRCm38)	T82I	probably damaging	Het
Baz2b	T	A	2: 59,948,223 (GRCm38)	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,301,340 (GRCm38)	I701S	probably damaging	Het
Cd55b	T	A	1: 130,418,166 (GRCm38)	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,634,190 (GRCm38)	E199G	probably benign	Het
Cntnap4	A	T	8: 112,752,289 (GRCm38)	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,604,514 (GRCm38)	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,164,568 (GRCm38)	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,846,586 (GRCm38)	E96G	probably benign	Het
Dscaml1	C	T	9: 45,668,160 (GRCm38)	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,502,124 (GRCm38)	G695C	probably damaging	Het
Erbb4	C	T	1: 68,560,576 (GRCm38)	R114H	probably damaging	Het
F2rl1	G	T	13: 95,513,938 (GRCm38)	Y145*	probably null	Het
Fam58b	T	C	11: 78,751,230 (GRCm38)	K145E	probably damaging	Het
Fsip2	A	T	2: 82,980,441 (GRCm38)	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,536,578 (GRCm38)		probably null	Het
Gm6811	T	G	17: 21,094,690 (GRCm38)		noncoding transcript	Het
Gm6811	T	A	17: 21,093,983 (GRCm38)		noncoding transcript	Het
Hk2	T	C	6: 82,743,366 (GRCm38)	D170G	probably benign	Het
Hmcn1	C	T	1: 150,738,681 (GRCm38)	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,800,519 (GRCm38)	Y89*	probably null	Het
Itga1	T	C	13: 114,980,852 (GRCm38)	E871G	probably benign	Het
Kat6a	T	C	8: 22,939,405 (GRCm38)	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,921,063 (GRCm38)	A756E	probably benign	Het
Krt12	A	T	11: 99,421,902 (GRCm38)	C105*	probably null	Het
Lama1	G	A	17: 67,784,088 (GRCm38)		probably null	Het
Lama3	A	G	18: 12,506,949 (GRCm38)	N67S	probably benign	Het
Lrrk1	A	G	7: 66,306,839 (GRCm38)		probably null	Het
Map2	T	C	1: 66,399,419 (GRCm38)	V34A	probably damaging	Het
Mroh6	A	G	15: 75,885,700 (GRCm38)	L487P	probably damaging	Het
Myo18b	A	T	5: 112,811,642 (GRCm38)	S1430T	probably benign	Het
Notch3	G	A	17: 32,154,749 (GRCm38)	T495I	probably benign	Het
Olfr391-ps	A	T	11: 73,799,403 (GRCm38)	M118K	probably damaging	Het
Palld	C	T	8: 61,513,423 (GRCm38)	A980T	probably damaging	Het
Paxip1	A	T	5: 27,761,668 (GRCm38)	I620N	probably damaging	Het
Pcdha6	A	G	18: 36,969,767 (GRCm38)		probably null	Het
Pcdhb11	G	A	18: 37,421,760 (GRCm38)	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,707,644 (GRCm38)	E139G	probably benign	Het
Pck1	T	C	2: 173,157,319 (GRCm38)	V426A	probably damaging	Het
Pck2	T	A	14: 55,542,624 (GRCm38)	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm38)		probably benign	Het
Phactr3	G	A	2: 178,279,019 (GRCm38)	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,323,203 (GRCm38)		probably benign	Het
Prodh2	A	G	7: 30,506,651 (GRCm38)	H278R	probably benign	Het
Rspry1	T	A	8: 94,623,258 (GRCm38)	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480 (GRCm38)		probably benign	Het
Smn1	A	G	13: 100,127,995 (GRCm38)	N78S	possibly damaging	Het
Spta1	T	A	1: 174,218,512 (GRCm38)	I1614N	probably damaging	Het
Syt17	T	C	7: 118,434,290 (GRCm38)	D165G	probably damaging	Het
Tbck	A	G	3: 132,743,005 (GRCm38)	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,629,753 (GRCm38)	F422L	probably benign	Het
Tex15	T	A	8: 33,577,189 (GRCm38)	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,318,020 (GRCm38)	E846G	probably benign	Het
Ttc41	T	C	10: 86,744,449 (GRCm38)	I753T	probably benign	Het
Vdac1	C	T	11: 52,376,482 (GRCm38)	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 21,260,179 (GRCm38)	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,184,295 (GRCm38)	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,490,731 (GRCm38)	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,921,110 (GRCm38)	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,451,470 (GRCm38)	A490S	possibly damaging	Het
Wdfy4	C	T	14: 33,109,525 (GRCm38)	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,395,604 (GRCm38)		probably null	Het
Zscan2	A	G	7: 80,875,809 (GRCm38)	N426S	probably benign	Het

Other mutations in H2-M1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:H2-M1	APN	17	36,671,307 (GRCm38)	missense	possibly damaging	0.92
IGL01671:H2-M1	APN	17	36,670,438 (GRCm38)	missense	probably damaging	1.00
IGL01870:H2-M1	APN	17	36,670,063 (GRCm38)	missense	probably benign	0.38
IGL02032:H2-M1	APN	17	36,671,876 (GRCm38)	missense	probably damaging	1.00
IGL02383:H2-M1	APN	17	36,670,249 (GRCm38)	missense	unknown
IGL02417:H2-M1	APN	17	36,672,134 (GRCm38)	missense	possibly damaging	0.95
IGL02700:H2-M1	APN	17	36,671,269 (GRCm38)	missense	possibly damaging	0.93
R0193:H2-M1	UTSW	17	36,671,332 (GRCm38)	missense	probably benign	0.34
R0715:H2-M1	UTSW	17	36,670,228 (GRCm38)	splice site	probably benign
R1271:H2-M1	UTSW	17	36,671,245 (GRCm38)	missense	probably benign	0.33
R1367:H2-M1	UTSW	17	36,671,167 (GRCm38)	missense	probably benign	0.00
R2120:H2-M1	UTSW	17	36,670,037 (GRCm38)	missense	possibly damaging	0.95
R4854:H2-M1	UTSW	17	36,670,058 (GRCm38)	missense	probably benign	0.03
R4899:H2-M1	UTSW	17	36,671,220 (GRCm38)	missense	probably benign	0.09
R4963:H2-M1	UTSW	17	36,671,738 (GRCm38)	missense	probably benign
R5243:H2-M1	UTSW	17	36,671,301 (GRCm38)	missense	possibly damaging	0.73
R6199:H2-M1	UTSW	17	36,671,167 (GRCm38)	missense	probably benign	0.00
R6395:H2-M1	UTSW	17	36,671,809 (GRCm38)	missense	probably benign	0.39
R6818:H2-M1	UTSW	17	36,670,435 (GRCm38)	missense	probably damaging	1.00
R7913:H2-M1	UTSW	17	36,670,237 (GRCm38)	splice site	probably null
R9419:H2-M1	UTSW	17	36,670,339 (GRCm38)	missense	probably damaging	1.00
R9640:H2-M1	UTSW	17	36,672,139 (GRCm38)	missense	probably benign	0.02
R9648:H2-M1	UTSW	17	36,671,356 (GRCm38)	missense	probably benign	0.01
R9746:H2-M1	UTSW	17	36,670,105 (GRCm38)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TCATTGACTGAGCTGTCTGC -3'
(R):5'- CCCTAGGTTCACACACTCTGAG -3'

Sequencing Primer
(F):5'- TGTCTGCAGCCTAGTAACCATGG -3'
(R):5'- CCTAGGTTCACACACTCTGAGATATG -3'

Posted On

2018-03-15