Mutagenetix > Incidental Mutations

Incidental Mutation 'R6410:H2-M2'

514587

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

044383-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6410 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37480851-37483552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37483213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 40 (V40A)

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: V40A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000016427
Gene: ENSMUSG00000016283
AA Change: V40A

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: V40A

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

SMART Domains

Protein: ENSMUSP00000131297
Gene: ENSMUSG00000016283
AA Change: V40A

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: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	C	T	4: 133,062,899	R484W	probably damaging	Het
Arhgap24	T	A	5: 102,892,151	I411N	probably benign	Het
Armt1	A	G	10: 4,453,826	S304G	probably benign	Het
Atg9b	T	A	5: 24,386,110	N774I	possibly damaging	Het
C1s1	C	T	6: 124,531,158	C624Y	probably damaging	Het
Camsap2	C	A	1: 136,345,444		probably benign	Het
Cd109	T	C	9: 78,657,516	S248P	probably benign	Het
Cd28	A	T	1: 60,765,283	H140L	probably benign	Het
Csmd3	G	A	15: 48,673,407	T133I	probably damaging	Het
D430041D05Rik	A	T	2: 104,168,203		probably null	Het
Defb47	T	C	14: 63,000,993	V56A	probably benign	Het
Fxyd5	T	C	7: 31,035,406	E132G	probably damaging	Het
H2-Q7	T	C	17: 35,440,176	L201P	probably benign	Het
Klra9	T	G	6: 130,178,994	D266A	probably damaging	Het
Meioc	A	G	11: 102,675,034	N492S	probably benign	Het
Mgea5	T	C	19: 45,776,045		probably null	Het
Nmt2	A	G	2: 3,316,178	E341G	probably damaging	Het
Nutm1	A	C	2: 112,248,729	V947G	possibly damaging	Het
Olfr873	T	A	9: 20,300,452	I84N	probably damaging	Het
Pm20d1	G	A	1: 131,798,596	G57D	probably benign	Het
Pnpla5	A	G	15: 84,120,679	I157T	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Sv2b	A	T	7: 75,140,109	I392N	probably benign	Het
Wfdc8	T	A	2: 164,597,743	I240F	probably benign	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
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
R8910:H2-M2	UTSW	17	37481522	missense	probably damaging	1.00
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	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TCGCAGTTTCTGAAAGTACACTC -3'
(R):5'- AGAAGAGCACCTGGGAATCC -3'

Sequencing Primer
(F):5'- CTGAAAGTACACTCTAATCTGCTG -3'
(R):5'- GGGAATCCCACCCAGCCAG -3'

Posted On

2018-05-04