Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01469:Nrbf2'

88221

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrbf2

Ensembl Gene

ENSMUSG00000075000

Gene Name

nuclear receptor binding factor 2

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

IGL01469

Quality Score

Status

Chromosome

Chromosomal Location

67266689-67285305 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67270140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 41 (L41P)

Ref Sequence

ENSEMBL: ENSMUSP00000097254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077839] [ENSMUST00000159002]

AlphaFold

Q8VCQ3

PDB Structure

Solution structure of MIT domain from mouse NRBF-2 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000077839
AA Change: L41P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097254
Gene: ENSMUSG00000075000
AA Change: L41P

Domain	Start	End	E-Value	Type
Pfam:DUF1875	45	285	2.1e-124	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000159002
AA Change: S57P

SMART Domains

Protein: ENSMUSP00000125678
Gene: ENSMUSG00000075000
AA Change: S57P

Domain	Start	End	E-Value	Type
PDB:2CRB\|A	4	39	2e-20	PDB

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
9430007A20Rik	A	G	4: 144,528,622	Q204R	possibly damaging	Het
Actn2	C	T	13: 12,310,910	E60K	possibly damaging	Het
Alpk1	T	C	3: 127,677,752		probably null	Het
Ccdc107	A	G	4: 43,495,751	N218S	probably benign	Het
Cdh23	A	T	10: 60,597,725	M60K	probably benign	Het
Cenpe	A	G	3: 135,228,806	Q378R	probably damaging	Het
Dnah8	T	A	17: 30,683,714		probably benign	Het
Eif2b4	T	C	5: 31,187,767	D190G	probably benign	Het
Fmo5	A	G	3: 97,651,568	N448S	probably benign	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Gbf1	A	T	19: 46,279,364	E1271V	probably damaging	Het
Ifitm6	A	T	7: 141,016,812	V16D	probably damaging	Het
Ighv2-4	A	G	12: 113,653,346		probably null	Het
Kng2	T	A	16: 22,999,827	K305I	probably damaging	Het
Lrp1	C	T	10: 127,584,414	R900Q	probably damaging	Het
Maml1	A	G	11: 50,266,526	M274T	probably damaging	Het
Med23	A	G	10: 24,882,597	E278G	probably damaging	Het
Myo1h	A	G	5: 114,361,269	T164A	probably damaging	Het
Ncoa2	A	T	1: 13,186,869	S135R	probably benign	Het
Olfr108	T	A	17: 37,445,535	S5T	probably benign	Het
Olfr341	T	C	2: 36,479,824	Y102C	probably benign	Het
Olfr514	A	G	7: 108,825,327	V224A	probably benign	Het
Olfr678	T	A	7: 105,070,388	M307K	probably benign	Het
Olfr782	A	G	10: 129,350,580	M6V	probably benign	Het
Otoa	T	C	7: 121,155,273		probably null	Het
Pih1d3	A	T	1: 31,223,429	D164V	probably damaging	Het
Plxnb1	T	C	9: 109,105,415		probably benign	Het
Ppp1r42	A	T	1: 10,003,233		probably null	Het
Rad54l2	T	A	9: 106,722,758	K100M	probably damaging	Het
Rnf112	T	A	11: 61,451,341	T308S	possibly damaging	Het
Scaper	T	C	9: 55,859,767	D466G	probably damaging	Het
Sgsm2	T	A	11: 74,853,871	I796L	possibly damaging	Het
Shank3	T	C	15: 89,521,274	L476P	probably damaging	Het
Shkbp1	T	C	7: 27,355,941	T6A	probably benign	Het
Slc14a2	A	T	18: 78,155,566	I783N	probably damaging	Het
Stat1	A	G	1: 52,147,370	D447G	possibly damaging	Het
Tekt3	T	G	11: 63,073,468	I208S	probably damaging	Het
Tenm3	A	T	8: 48,236,423	V2043E	probably damaging	Het
Tgm3	T	C	2: 130,024,494	Y111H	probably damaging	Het
Tph2	T	A	10: 115,079,759	R459*	probably null	Het
Vmn2r109	T	C	17: 20,541,409	Y562C	probably damaging	Het

Other mutations in Nrbf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0602:Nrbf2	UTSW	10	67267826	missense	probably damaging	0.98
R1104:Nrbf2	UTSW	10	67267912	missense	possibly damaging	0.84
R1381:Nrbf2	UTSW	10	67267826	missense	probably damaging	0.98
R2034:Nrbf2	UTSW	10	67275564	splice site	probably benign
R5479:Nrbf2	UTSW	10	67285091	splice site	probably null
R5945:Nrbf2	UTSW	10	67267520	missense	possibly damaging	0.86
R7269:Nrbf2	UTSW	10	67267826	missense	probably damaging	0.98

Posted On

2013-11-18