Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02691:H2-DMb2'

303759

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-DMb2

Ensembl Gene

ENSMUSG00000037548

Gene Name

histocompatibility 2, class II, locus Mb2

Synonyms

H2-M beta2, H-2Mb2, H2-Mb2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02691

Quality Score

Status

Chromosome

Chromosomal Location

34143307-34151553 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34147858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 88 (H88L)

Ref Sequence

ENSEMBL: ENSMUSP00000043526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041982] [ENSMUST00000171231]

AlphaFold

Q31099

PDB Structure

CRYSTAL STRUCTURE OF MOUSE H2-DM [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000041982
AA Change: H88L

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

SMART Domains

Protein: ENSMUSP00000043526
Gene: ENSMUSG00000037548
AA Change: H88L

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
MHC_II_beta	27	105	7.87e-27	SMART
IGc1	130	202	9.6e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171231

SMART Domains

Protein: ENSMUSP00000126533
Gene: ENSMUSG00000037548

Domain	Start	End	E-Value	Type
IGc1	2	71	6.48e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173262

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,761,664	S40P	probably benign	Het
Actl9	G	T	17: 33,433,118	V51L	probably damaging	Het
Adcy6	A	T	15: 98,604,304	F143Y	probably damaging	Het
Agps	A	T	2: 75,891,860	I465F	probably benign	Het
Armc3	T	A	2: 19,235,484	F17L	probably damaging	Het
Arsk	A	C	13: 76,074,950	M176R	probably damaging	Het
Asz1	G	A	6: 18,076,557	T212I	probably damaging	Het
Atp6v1a	A	G	16: 44,111,619	I102T	probably damaging	Het
Bpifb6	T	A	2: 153,902,645	L2Q	unknown	Het
Cad	A	G	5: 31,055,294	Y45C	probably damaging	Het
Ccdc93	A	G	1: 121,486,613	D451G	possibly damaging	Het
Cenpj	A	G	14: 56,552,090	I834T	probably benign	Het
Cyp2j12	C	T	4: 96,132,994		probably null	Het
Dhx8	G	A	11: 101,752,004		probably benign	Het
Dync1i1	A	G	6: 5,800,767		probably benign	Het
Ell2	T	A	13: 75,756,486	D99E	probably damaging	Het
Enpp1	G	T	10: 24,711,892	P34T	probably damaging	Het
Fras1	T	A	5: 96,744,705	V2888E	possibly damaging	Het
Gm10451	T	C	12: 76,451,299		noncoding transcript	Het
Gmfg	A	G	7: 28,444,870	Y40C	probably damaging	Het
Gnal	T	C	18: 67,222,675	I369T	probably damaging	Het
Gzmn	T	C	14: 56,166,913	T156A	probably benign	Het
Ighv7-3	T	C	12: 114,153,396	T49A	probably benign	Het
Jakmip3	C	T	7: 139,026,844	Q450*	probably null	Het
Klhl20	A	T	1: 161,106,874		probably benign	Het
Klk6	A	G	7: 43,828,500	T99A	probably benign	Het
Lhx3	A	G	2: 26,203,085	C118R	probably damaging	Het
Mapkbp1	T	C	2: 119,973,174		probably benign	Het
Naa15	A	G	3: 51,451,326	E294G	probably damaging	Het
Nfia	C	T	4: 98,081,808	Q373*	probably null	Het
Notch2	C	A	3: 98,135,607	Y1429*	probably null	Het
Oc90	A	G	15: 65,882,561	S252P	probably damaging	Het
Olfr1084	T	C	2: 86,638,838	Y290C	probably damaging	Het
Olfr681	A	G	7: 105,122,131	I225V	probably damaging	Het
Pde3b	T	A	7: 114,508,085		probably benign	Het
Pdss1	G	A	2: 22,915,241	V211I	probably benign	Het
Phactr1	G	T	13: 43,077,737	M226I	probably benign	Het
Phf11c	A	G	14: 59,384,787	S259P	probably damaging	Het
Phf20l1	A	G	15: 66,604,864	N269S	probably damaging	Het
Piezo1	A	G	8: 122,501,949	V229A	possibly damaging	Het
Plcb2	T	C	2: 118,710,963	K997R	probably benign	Het
Ppm1m	A	T	9: 106,195,369	V449E	probably damaging	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Rgs14	A	G	13: 55,379,023		probably null	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Scamp5	G	T	9: 57,451,377	R39S	probably damaging	Het
Slc5a6	C	T	5: 31,042,174	V15I	probably damaging	Het
Snx25	A	T	8: 46,105,265	V235E	possibly damaging	Het
Tdrd1	G	T	19: 56,843,852	E400D	probably damaging	Het
Tln1	T	C	4: 43,539,544	R1593G	probably benign	Het
Trdv2-2	T	C	14: 53,961,582	F110L	possibly damaging	Het
Ush2a	A	C	1: 188,734,752	Y2871S	probably damaging	Het
Vars2	A	C	17: 35,660,248	L592R	probably damaging	Het
Vipr2	T	A	12: 116,136,229	C239S	probably benign	Het
Vmn1r200	A	T	13: 22,395,258	D68V	probably damaging	Het
Vmn1r7	A	T	6: 57,024,388	S296T	probably benign	Het
Vmn2r95	T	C	17: 18,451,858	I619T	probably benign	Het

Other mutations in H2-DMb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:H2-DMb2	APN	17	34148613	missense	probably damaging	1.00
IGL01077:H2-DMb2	APN	17	34147720	missense	probably damaging	1.00
R0909:H2-DMb2	UTSW	17	34148809	missense	probably benign	0.00
R1299:H2-DMb2	UTSW	17	34150587	missense	probably benign	0.08
R1882:H2-DMb2	UTSW	17	34147860	missense	probably damaging	1.00
R4770:H2-DMb2	UTSW	17	34148724	missense	probably damaging	1.00
R4914:H2-DMb2	UTSW	17	34150529	missense	probably benign	0.05
R5265:H2-DMb2	UTSW	17	34148562	missense	probably damaging	1.00
R5561:H2-DMb2	UTSW	17	34145471	critical splice donor site	probably null
R5906:H2-DMb2	UTSW	17	34148608	start codon destroyed	probably null	0.99
R7970:H2-DMb2	UTSW	17	34150598	missense	probably benign	0.02
R8842:H2-DMb2	UTSW	17	34147930	missense	probably damaging	1.00
R8973:H2-DMb2	UTSW	17	34148725	missense	probably damaging	1.00

Posted On

2015-04-16