Mutagenetix > Incidental Mutation

Incidental Mutation 'R7641:H2-M5'

590269

Institutional Source

Beutler Lab

Gene Symbol

H2-M5

Ensembl Gene

ENSMUSG00000024459

Gene Name

histocompatibility 2, M region locus 5

Synonyms

D130003B22Rik, H-2M5, CRW2

MMRRC Submission

045699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7641 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37294953-37300429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37298323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 331 (M331L)

Ref Sequence

ENSEMBL: ENSMUSP00000131365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169189]

AlphaFold

A7VMS3

Predicted Effect

probably benign
Transcript: ENSMUST00000113667

SMART Domains

Protein: ENSMUSP00000109297
Gene: ENSMUSG00000024459

Domain	Start	End	E-Value	Type
IGc1	53	124	1.26e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169189
AA Change: M331L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131365
Gene: ENSMUSG00000024459
AA Change: M331L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:MHC_I	26	204	2.4e-69	PFAM
IGc1	223	294	1.26e-18	SMART
transmembrane domain	308	330	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000134912
Gene: ENSMUSG00000024459
AA Change: M300L

Domain	Start	End	E-Value	Type
Pfam:MHC_I	1	174	7.5e-66	PFAM
IGc1	193	264	1.26e-18	SMART
transmembrane domain	278	300	N/A	INTRINSIC

Predicted Effect

Coding Region Coverage

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

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	A	5: 121,657,370 (GRCm39)	Q641L	probably benign	Het
Aknad1	A	T	3: 108,679,291 (GRCm39)	H474L	probably benign	Het
Alkal1	A	T	1: 6,459,712 (GRCm39)	Y96F	probably damaging	Het
Cars1	A	G	7: 143,140,840 (GRCm39)		probably null	Het
Chtf18	A	T	17: 25,941,249 (GRCm39)		probably null	Het
Cog2	C	A	8: 125,264,621 (GRCm39)	N333K	probably damaging	Het
Col6a5	T	A	9: 105,758,625 (GRCm39)	R2194*	probably null	Het
Dnah14	A	T	1: 181,535,098 (GRCm39)	I2355L	probably benign	Het
Dock8	G	A	19: 25,151,697 (GRCm39)		probably null	Het
Dpy19l3	A	C	7: 35,394,734 (GRCm39)	D601E	probably damaging	Het
Elf1	G	A	14: 79,808,163 (GRCm39)	G205E	probably damaging	Het
Fsip2	A	T	2: 82,817,256 (GRCm39)	K4330*	probably null	Het
Gm6525	A	T	3: 84,082,150 (GRCm39)	T24S	probably benign	Het
Golga4	G	T	9: 118,386,643 (GRCm39)	R1255L	probably benign	Het
Gpn2	A	T	4: 133,315,970 (GRCm39)	Q243L	probably null	Het
Grb10	T	C	11: 11,883,492 (GRCm39)	K588E	possibly damaging	Het
Gys1	T	C	7: 45,104,495 (GRCm39)	S641P	probably damaging	Het
Ighv6-6	T	A	12: 114,398,837 (GRCm39)	I10L	probably benign	Het
Jmy	C	T	13: 93,579,107 (GRCm39)	R675Q	probably damaging	Het
Lonp2	A	T	8: 87,392,386 (GRCm39)	Q484L	probably benign	Het
Map3k20	T	A	2: 72,228,705 (GRCm39)	L308H	probably damaging	Het
Mep1b	T	C	18: 21,228,034 (GRCm39)	F546L	possibly damaging	Het
Mier1	A	G	4: 102,996,637 (GRCm39)	E133G	possibly damaging	Het
Msh3	C	A	13: 92,349,011 (GRCm39)	V1074L	probably benign	Het
Muc6	A	T	7: 141,224,247 (GRCm39)	L1645Q	unknown	Het
Nat10	G	A	2: 103,573,435 (GRCm39)	A354V	probably damaging	Het
Or8b12i	A	G	9: 20,082,549 (GRCm39)	L106P	possibly damaging	Het
Pdyn	A	T	2: 129,531,748 (GRCm39)	V14E	possibly damaging	Het
Prdm16	T	A	4: 154,429,901 (GRCm39)	H356L	probably damaging	Het
Rasa3	A	G	8: 13,634,961 (GRCm39)	C453R	probably benign	Het
Rasgrf2	C	T	13: 92,267,914 (GRCm39)	S30N	possibly damaging	Het
Rlf	A	G	4: 121,016,393 (GRCm39)	S315P	probably damaging	Het
Rusc2	C	T	4: 43,425,335 (GRCm39)	R1147W	possibly damaging	Het
Sacs	T	A	14: 61,440,320 (GRCm39)	Y789N	probably damaging	Het
Sap130	T	C	18: 31,786,676 (GRCm39)	L289P	probably damaging	Het
Septin3	A	G	15: 82,174,983 (GRCm39)	Y308C	probably damaging	Het
Slc2a12	A	G	10: 22,569,893 (GRCm39)	D528G	probably damaging	Het
Slc2a13	A	G	15: 91,156,359 (GRCm39)	*638Q	probably null	Het
Smchd1	T	A	17: 71,697,474 (GRCm39)	E1155D	probably benign	Het
Sorcs2	G	A	5: 36,555,296 (GRCm39)	R32C	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Tonsl	C	T	15: 76,517,852 (GRCm39)	D650N	probably damaging	Het
Tti1	A	T	2: 157,850,949 (GRCm39)	F97I	possibly damaging	Het
Ttn	T	C	2: 76,572,554 (GRCm39)	Q26113R	possibly damaging	Het
Unc5d	A	T	8: 29,210,003 (GRCm39)	N444K	probably damaging	Het
Usp17la	A	T	7: 104,510,654 (GRCm39)	K420*	probably null	Het
Vmn2r114	T	C	17: 23,527,177 (GRCm39)	N452D	possibly damaging	Het
Vps16	T	C	2: 130,282,448 (GRCm39)	V427A	probably benign	Het
Wdr5b	T	A	16: 35,862,712 (GRCm39)	V277D	probably damaging	Het
Zan	T	A	5: 137,465,370 (GRCm39)	M462L	possibly damaging	Het
Zfp40	A	G	17: 23,397,257 (GRCm39)	V80A	possibly damaging	Het
Zfp930	A	T	8: 69,681,337 (GRCm39)	H344L	probably damaging	Het

Other mutations in H2-M5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:H2-M5	APN	17	37,298,732 (GRCm39)	missense	probably damaging	1.00
IGL02870:H2-M5	APN	17	37,299,925 (GRCm39)	missense	probably benign	0.00
R0106:H2-M5	UTSW	17	37,300,034 (GRCm39)	missense	possibly damaging	0.95
R0361:H2-M5	UTSW	17	37,298,328 (GRCm39)	missense	possibly damaging	0.68
R0676:H2-M5	UTSW	17	37,300,034 (GRCm39)	missense	possibly damaging	0.95
R0678:H2-M5	UTSW	17	37,300,034 (GRCm39)	missense	possibly damaging	0.95
R4594:H2-M5	UTSW	17	37,298,697 (GRCm39)	missense	possibly damaging	0.53
R4816:H2-M5	UTSW	17	37,300,309 (GRCm39)	unclassified	probably benign
R5071:H2-M5	UTSW	17	37,298,076 (GRCm39)	critical splice acceptor site	probably null
R7070:H2-M5	UTSW	17	37,300,051 (GRCm39)	missense	possibly damaging	0.95
R7489:H2-M5	UTSW	17	37,300,363 (GRCm39)	missense	unknown
R7908:H2-M5	UTSW	17	37,298,571 (GRCm39)	missense	probably benign	0.13
R8958:H2-M5	UTSW	17	37,299,520 (GRCm39)	missense	probably damaging	1.00
R9038:H2-M5	UTSW	17	37,299,422 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TGTCACTTGTTTCCAAATGTGC -3'
(R):5'- AAAGTGGAAGCCCTTCTGG -3'

Sequencing Primer
(F):5'- CCTTTGATCCATCATAGAGGCAGAG -3'
(R):5'- CCTTCTGGAGACCCTGAGAAG -3'

Posted On

2019-10-24