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

Essential gene?

Possibly essential (E-score: 0.609) question?

Stock #

IGL01469

Quality Score

Status

Chromosome

Chromosomal Location

67102463-67121076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67105919 bp (GRCm39)

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
Aadacl4fm1	A	G	4: 144,255,192 (GRCm39)	Q204R	possibly damaging	Het
Actn2	C	T	13: 12,325,796 (GRCm39)	E60K	possibly damaging	Het
Alpk1	T	C	3: 127,471,401 (GRCm39)		probably null	Het
Ccdc107	A	G	4: 43,495,751 (GRCm39)	N218S	probably benign	Het
Cdh23	A	T	10: 60,433,504 (GRCm39)	M60K	probably benign	Het
Cenpe	A	G	3: 134,934,567 (GRCm39)	Q378R	probably damaging	Het
Dnaaf6rt	A	T	1: 31,262,510 (GRCm39)	D164V	probably damaging	Het
Dnah8	T	A	17: 30,902,688 (GRCm39)		probably benign	Het
Eif2b4	T	C	5: 31,345,111 (GRCm39)	D190G	probably benign	Het
Fmo5	A	G	3: 97,558,884 (GRCm39)	N448S	probably benign	Het
Gal3st2c	A	G	1: 93,937,039 (GRCm39)	N328S	probably benign	Het
Gbf1	A	T	19: 46,267,803 (GRCm39)	E1271V	probably damaging	Het
Ifitm6	A	T	7: 140,596,725 (GRCm39)	V16D	probably damaging	Het
Ighv2-4	A	G	12: 113,616,966 (GRCm39)		probably null	Het
Kng2	T	A	16: 22,818,577 (GRCm39)	K305I	probably damaging	Het
Lrp1	C	T	10: 127,420,283 (GRCm39)	R900Q	probably damaging	Het
Maml1	A	G	11: 50,157,353 (GRCm39)	M274T	probably damaging	Het
Med23	A	G	10: 24,758,495 (GRCm39)	E278G	probably damaging	Het
Myo1h	A	G	5: 114,499,330 (GRCm39)	T164A	probably damaging	Het
Ncoa2	A	T	1: 13,257,093 (GRCm39)	S135R	probably benign	Het
Or10a48	A	G	7: 108,424,534 (GRCm39)	V224A	probably benign	Het
Or1j13	T	C	2: 36,369,836 (GRCm39)	Y102C	probably benign	Het
Or1o11	T	A	17: 37,756,426 (GRCm39)	S5T	probably benign	Het
Or52e5	T	A	7: 104,719,595 (GRCm39)	M307K	probably benign	Het
Or6c6	A	G	10: 129,186,449 (GRCm39)	M6V	probably benign	Het
Otoa	T	C	7: 120,754,496 (GRCm39)		probably null	Het
Plxnb1	T	C	9: 108,934,483 (GRCm39)		probably benign	Het
Ppp1r42	A	T	1: 10,073,458 (GRCm39)		probably null	Het
Rad54l2	T	A	9: 106,599,957 (GRCm39)	K100M	probably damaging	Het
Rnf112	T	A	11: 61,342,167 (GRCm39)	T308S	possibly damaging	Het
Scaper	T	C	9: 55,767,051 (GRCm39)	D466G	probably damaging	Het
Sgsm2	T	A	11: 74,744,697 (GRCm39)	I796L	possibly damaging	Het
Shank3	T	C	15: 89,405,477 (GRCm39)	L476P	probably damaging	Het
Shkbp1	T	C	7: 27,055,366 (GRCm39)	T6A	probably benign	Het
Slc14a2	A	T	18: 78,198,781 (GRCm39)	I783N	probably damaging	Het
Stat1	A	G	1: 52,186,529 (GRCm39)	D447G	possibly damaging	Het
Tekt3	T	G	11: 62,964,294 (GRCm39)	I208S	probably damaging	Het
Tenm3	A	T	8: 48,689,458 (GRCm39)	V2043E	probably damaging	Het
Tgm3	T	C	2: 129,866,414 (GRCm39)	Y111H	probably damaging	Het
Tph2	T	A	10: 114,915,664 (GRCm39)	R459*	probably null	Het
Vmn2r109	T	C	17: 20,761,671 (GRCm39)	Y562C	probably damaging	Het

Other mutations in Nrbf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0602:Nrbf2	UTSW	10	67,103,605 (GRCm39)	missense	probably damaging	0.98
R1104:Nrbf2	UTSW	10	67,103,691 (GRCm39)	missense	possibly damaging	0.84
R1381:Nrbf2	UTSW	10	67,103,605 (GRCm39)	missense	probably damaging	0.98
R2034:Nrbf2	UTSW	10	67,111,343 (GRCm39)	splice site	probably benign
R5479:Nrbf2	UTSW	10	67,120,870 (GRCm39)	splice site	probably null
R5945:Nrbf2	UTSW	10	67,103,299 (GRCm39)	missense	possibly damaging	0.86
R7269:Nrbf2	UTSW	10	67,103,605 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-11-18