Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02870:H2-M5'

362519

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M5

Ensembl Gene

ENSMUSG00000024459

Gene Name

histocompatibility 2, M region locus 5

Synonyms

D130003B22Rik, H-2M5, CRW2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02870

Quality Score

Status

Chromosome

Chromosomal Location

37294953-37300429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37299925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 83 (E83G)

Ref Sequence

ENSEMBL: ENSMUSP00000131365 (fasta)

Gene Model

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

AlphaFold

A7VMS3

Predicted Effect

unknown
Transcript: ENSMUST00000113667
AA Change: E4G

SMART Domains

Protein: ENSMUSP00000109297
Gene: ENSMUSG00000024459
AA Change: E4G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145260

Predicted Effect

probably benign
Transcript: ENSMUST00000169189
AA Change: E83G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131365
Gene: ENSMUSG00000024459
AA Change: E83G

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: E52G

SMART Domains

Protein: ENSMUSP00000134912
Gene: ENSMUSG00000024459
AA Change: E52G

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: E52G

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,711,851 (GRCm39)	V1042M	probably benign	Het
Agmat	C	A	4: 141,474,253 (GRCm39)	H45N	probably benign	Het
Akap13	T	A	7: 75,258,936 (GRCm39)	V520D	probably damaging	Het
Ccser1	T	A	6: 61,288,276 (GRCm39)	N146K	probably damaging	Het
Cdhr4	T	A	9: 107,875,263 (GRCm39)		probably null	Het
Col4a1	G	A	8: 11,271,375 (GRCm39)	T753I	probably benign	Het
Cyp3a59	T	C	5: 146,034,994 (GRCm39)	I224T	probably benign	Het
Ddx19a	G	T	8: 111,710,258 (GRCm39)	P114Q	probably damaging	Het
Eftud2	A	G	11: 102,753,452 (GRCm39)	V275A	probably damaging	Het
Fgd6	T	C	10: 93,881,026 (GRCm39)	S627P	probably damaging	Het
Flywch1	C	T	17: 23,974,876 (GRCm39)	G541D	probably damaging	Het
Grk2	T	C	19: 4,340,430 (GRCm39)	D317G	probably damaging	Het
Hltf	T	C	3: 20,154,037 (GRCm39)	F658L	probably damaging	Het
Hmmr	G	T	11: 40,604,902 (GRCm39)	Q390K	possibly damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Nsd1	A	T	13: 55,461,416 (GRCm39)	T2548S	probably benign	Het
Or1j13	G	A	2: 36,370,043 (GRCm39)	A33V	probably benign	Het
P3h1	C	T	4: 119,104,768 (GRCm39)	R684W	probably damaging	Het
Peli2	G	A	14: 48,493,722 (GRCm39)	V315M	probably damaging	Het
Pfkl	T	A	10: 77,836,673 (GRCm39)	K115*	probably null	Het
Plcxd1	A	G	5: 110,249,271 (GRCm39)	T33A	probably damaging	Het
Ranbp17	A	G	11: 33,193,262 (GRCm39)	S931P	probably damaging	Het
Retsat	T	C	6: 72,584,007 (GRCm39)	Y500H	probably damaging	Het
Rfx8	C	T	1: 39,722,871 (GRCm39)	V249I	possibly damaging	Het
Runx1t1	A	T	4: 13,889,867 (GRCm39)	I599L	unknown	Het
Sardh	A	T	2: 27,125,503 (GRCm39)	I337N	possibly damaging	Het
Serpinb7	A	T	1: 107,378,017 (GRCm39)	M237L	probably damaging	Het
Slc35f1	A	G	10: 52,809,303 (GRCm39)	S97G	possibly damaging	Het
Stab1	T	C	14: 30,861,354 (GRCm39)	D2520G	probably benign	Het
Tnfrsf11b	C	T	15: 54,119,423 (GRCm39)	V184M	probably benign	Het
Trpv4	A	T	5: 114,763,117 (GRCm39)	V764E	probably damaging	Het
Tsc22d1	C	A	14: 76,655,057 (GRCm39)	A430E	probably benign	Het
Ttn	T	C	2: 76,580,949 (GRCm39)	R23315G	probably damaging	Het
Txnrd1	A	G	10: 82,731,813 (GRCm39)	I478M	probably benign	Het
Ush2a	T	C	1: 188,410,555 (GRCm39)	V2401A	probably benign	Het
Vill	T	C	9: 118,890,967 (GRCm39)	L191P	probably damaging	Het
Vmn1r30	A	G	6: 58,412,355 (GRCm39)	V159A	probably benign	Het
Washc4	T	A	10: 83,421,740 (GRCm39)	N939K	probably benign	Het
Wdfy3	A	G	5: 102,003,337 (GRCm39)	V2926A	probably damaging	Het
Wdr7	T	C	18: 63,924,914 (GRCm39)	S966P	probably benign	Het
Zfp12	C	A	5: 143,231,086 (GRCm39)	T471N	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
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
R7641:H2-M5	UTSW	17	37,298,323 (GRCm39)	missense	probably benign
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

Posted On

2015-12-18