Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01700:Nrip3'

104433

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrip3

Ensembl Gene

ENSMUSG00000034825

Gene Name

nuclear receptor interacting protein 3

Synonyms

ICRFP703N2430Q5.2, ICRFP703B1614Q5.2, A330103B05Rik, D7H11orf14

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

109758055-109782025 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109761867 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 200 (N200I)

Ref Sequence

ENSEMBL: ENSMUSP00000044116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033331] [ENSMUST00000041460] [ENSMUST00000207400]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033331
AA Change: N189I

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033331
Gene: ENSMUSG00000034825
AA Change: N189I

Domain	Start	End	E-Value	Type
low complexity region	42	57	N/A	INTRINSIC
Pfam:Asp_protease	86	208	6e-16	PFAM
Pfam:Asp_protease_2	109	201	3.4e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041460
AA Change: N200I

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044116
Gene: ENSMUSG00000034825
AA Change: N200I

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC
Pfam:Asp_protease	97	219	9.7e-16	PFAM
Pfam:Asp_protease_2	120	214	1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207400

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,439,538	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Ankrd55	T	C	13: 112,381,168	I556T	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Diexf	G	A	1: 193,118,265	P416S	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
F7	C	A	8: 13,028,685	Q39K	probably benign	Het
Galntl6	A	T	8: 57,958,460		probably benign	Het
Kcnj5	A	G	9: 32,322,629	V130A	probably damaging	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Pou3f1	G	T	4: 124,658,857	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,113,078	P27H	probably damaging	Het
Pvr	C	A	7: 19,909,232	A359S	probably benign	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Wdr24	A	G	17: 25,825,828	D219G	probably damaging	Het
Xpo1	T	C	11: 23,276,422		probably benign	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in Nrip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02253:Nrip3	APN	7	109761744	splice site	probably null
PIT4696001:Nrip3	UTSW	7	109765507	nonsense	probably null
R0140:Nrip3	UTSW	7	109761815	unclassified	probably benign
R1179:Nrip3	UTSW	7	109763555	missense	probably damaging	1.00
R1828:Nrip3	UTSW	7	109766556	missense	probably benign	0.00
R5488:Nrip3	UTSW	7	109761838	missense	probably damaging	1.00
R5489:Nrip3	UTSW	7	109761838	missense	probably damaging	1.00
R6282:Nrip3	UTSW	7	109763479	splice site	probably null
R7134:Nrip3	UTSW	7	109765488	missense	probably damaging	0.99
R8414:Nrip3	UTSW	7	109763528	missense	possibly damaging	0.72
Z1177:Nrip3	UTSW	7	109766575	missense	probably benign	0.34

Posted On

2014-01-21