Mutagenetix > Incidental Mutations

Incidental Mutation 'R4594:H2-M5'

344296

Institutional Source

Beutler Lab

Gene Symbol

H2-M5

Ensembl Gene

ENSMUSG00000024459

Gene Name

histocompatibility 2, M region locus 5

Synonyms

CRW2, D130003B22Rik, H-2M5

MMRRC Submission

041810-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36984061-36989537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36987805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 250 (T250A)

Ref Sequence

ENSEMBL: ENSMUSP00000131365 (fasta)

Gene Model

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

AlphaFold

A7VMS3

Predicted Effect

unknown
Transcript: ENSMUST00000113667
AA Change: T79A

SMART Domains

Protein: ENSMUSP00000109297
Gene: ENSMUSG00000024459
AA Change: T79A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145260

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169189
AA Change: T250A

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131365
Gene: ENSMUSG00000024459
AA Change: T250A

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

unknown
Transcript: ENSMUST00000176712
AA Change: T219A

SMART Domains

Protein: ENSMUSP00000134912
Gene: ENSMUSG00000024459
AA Change: T219A

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

unknown
Transcript: ENSMUST00000176784
AA Change: T219A

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966		probably benign	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847		probably null	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	probably damaging	Het

Other mutations in H2-M5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:H2-M5	APN	17	36987840	missense	probably damaging	1.00
IGL02870:H2-M5	APN	17	36989033	missense	probably benign	0.00
R0106:H2-M5	UTSW	17	36989142	missense	possibly damaging	0.95
R0361:H2-M5	UTSW	17	36987436	missense	possibly damaging	0.68
R0676:H2-M5	UTSW	17	36989142	missense	possibly damaging	0.95
R0678:H2-M5	UTSW	17	36989142	missense	possibly damaging	0.95
R4816:H2-M5	UTSW	17	36989417	unclassified	probably benign
R5071:H2-M5	UTSW	17	36987184	critical splice acceptor site	probably null
R7070:H2-M5	UTSW	17	36989159	missense	possibly damaging	0.95
R7489:H2-M5	UTSW	17	36989471	missense	unknown
R7641:H2-M5	UTSW	17	36987431	missense	probably benign
R7908:H2-M5	UTSW	17	36987679	missense	probably benign	0.13
R8958:H2-M5	UTSW	17	36988628	missense	probably damaging	1.00
R9038:H2-M5	UTSW	17	36988530	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CAGAAGGGCTTCCACTTTCC -3'
(R):5'- GGTCCATAAACATTGCTTCAGTTC -3'

Sequencing Primer
(F):5'- GAAGGGCTTCCACTTTCCCAAATG -3'
(R):5'- ACATTGCTTCAGTTCAGGGAAG -3'

Posted On

2015-09-25