Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01338:Nipal3'

74730

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipal3

Ensembl Gene

ENSMUSG00000028803

Gene Name

NIPA-like domain containing 3

Synonyms

Npal3, 9130020G22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL01338

Quality Score

Status

Chromosome

Chromosomal Location

135173454-135222283 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 135199194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102549] [ENSMUST00000105856] [ENSMUST00000183807]

AlphaFold

Q8BGN5

Predicted Effect

probably null
Transcript: ENSMUST00000102549

SMART Domains

Protein: ENSMUSP00000099608
Gene: ENSMUSG00000028803

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	33	333	5e-75	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105856

SMART Domains

Protein: ENSMUSP00000101482
Gene: ENSMUSG00000028803

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
Pfam:Mg_trans_NIPA	35	330	9.5e-75	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000140982

SMART Domains

Protein: ENSMUSP00000118178
Gene: ENSMUSG00000028803

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	1	190	1.2e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183807

SMART Domains

Protein: ENSMUSP00000139088
Gene: ENSMUSG00000028803

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	33	333	3.8e-75	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit gender-dependent behavioral and immune system abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,591,014 (GRCm39)	T494A	possibly damaging	Het
Adamts16	C	T	13: 70,984,234 (GRCm39)	C143Y	probably damaging	Het
Cacna1i	A	G	15: 80,232,581 (GRCm39)	I195V	probably damaging	Het
Casp7	T	C	19: 56,392,896 (GRCm39)	S17P	probably benign	Het
Cfap298	T	C	16: 90,722,936 (GRCm39)	N266S	possibly damaging	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cpvl	T	A	6: 53,951,640 (GRCm39)	S48C	possibly damaging	Het
Cyp2b19	G	T	7: 26,458,842 (GRCm39)	M138I	probably benign	Het
Dennd5a	T	C	7: 109,518,611 (GRCm39)	Y510C	possibly damaging	Het
Derl2	A	G	11: 70,901,181 (GRCm39)	F229S	possibly damaging	Het
Dlec1	A	G	9: 118,949,979 (GRCm39)	E452G	probably damaging	Het
Dsc2	T	C	18: 20,180,214 (GRCm39)	K180E	probably benign	Het
Dus1l	G	A	11: 120,683,918 (GRCm39)	R177C	possibly damaging	Het
Egfr	A	G	11: 16,813,020 (GRCm39)	I167V	probably damaging	Het
Fam219b	A	T	9: 57,445,305 (GRCm39)		probably null	Het
Fn1	T	C	1: 71,665,369 (GRCm39)	E916G	probably damaging	Het
Gm2058	C	T	7: 39,238,580 (GRCm39)		noncoding transcript	Het
Gpd1	T	A	15: 99,616,056 (GRCm39)	V22E	probably damaging	Het
Hsf2	T	C	10: 57,377,475 (GRCm39)	F124L	probably damaging	Het
I0C0044D17Rik	A	G	4: 98,708,336 (GRCm39)		probably benign	Het
Igfbp3	A	T	11: 7,158,478 (GRCm39)	F262I	possibly damaging	Het
Klhl18	A	G	9: 110,284,501 (GRCm39)	Y62H	probably damaging	Het
Lama2	C	T	10: 27,064,268 (GRCm39)	E1238K	probably benign	Het
Man1b1	A	G	2: 25,228,239 (GRCm39)	K170E	probably benign	Het
Mcrs1	A	T	15: 99,147,382 (GRCm39)	I39N	probably damaging	Het
Mug2	T	C	6: 122,026,587 (GRCm39)		probably benign	Het
Neu3	C	A	7: 99,462,629 (GRCm39)	G365W	probably damaging	Het
Nrxn3	A	G	12: 89,221,804 (GRCm39)	I528V	possibly damaging	Het
Or10al6	A	T	17: 38,082,730 (GRCm39)	H71L	possibly damaging	Het
Osbpl8	A	G	10: 111,103,608 (GRCm39)	K204R	probably damaging	Het
Pax8	A	G	2: 24,325,931 (GRCm39)	S318P	possibly damaging	Het
Pcdh18	T	A	3: 49,710,590 (GRCm39)	N242Y	probably damaging	Het
Pkd1l2	T	A	8: 117,786,259 (GRCm39)	K649*	probably null	Het
Ppm1n	A	T	7: 19,013,179 (GRCm39)	D257E	probably benign	Het
Pxdn	A	G	12: 30,052,796 (GRCm39)	E811G	probably damaging	Het
Relb	T	C	7: 19,350,298 (GRCm39)	I218V	probably benign	Het
Rreb1	T	C	13: 38,115,010 (GRCm39)	C790R	probably damaging	Het
Rtkn2	G	T	10: 67,861,349 (GRCm39)	C258F	possibly damaging	Het
Scn11a	G	A	9: 119,613,227 (GRCm39)		probably benign	Het
Snx8	G	A	5: 140,343,851 (GRCm39)	R96C	probably damaging	Het
Syne2	A	T	12: 76,107,000 (GRCm39)	T5649S	possibly damaging	Het
Tm2d3	T	A	7: 65,344,970 (GRCm39)	C82*	probably null	Het
Tnpo2	T	C	8: 85,767,155 (GRCm39)	L55P	probably damaging	Het
Tsc22d2	T	C	3: 58,324,836 (GRCm39)		probably benign	Het
Ttll3	T	G	6: 113,371,690 (GRCm39)	V19G	probably damaging	Het
Ube2r2	A	G	4: 41,174,119 (GRCm39)	I86V	probably benign	Het
Vps13d	G	A	4: 144,814,892 (GRCm39)	T3153I	probably damaging	Het
Wwp1	A	G	4: 19,627,636 (GRCm39)	I753T	probably damaging	Het

Other mutations in Nipal3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Nipal3	APN	4	135,195,904 (GRCm39)	missense	possibly damaging	0.90
IGL02149:Nipal3	APN	4	135,194,163 (GRCm39)	missense	possibly damaging	0.67
IGL02160:Nipal3	APN	4	135,201,728 (GRCm39)	nonsense	probably null
IGL02560:Nipal3	APN	4	135,207,015 (GRCm39)	missense	probably damaging	1.00
IGL02826:Nipal3	APN	4	135,195,861 (GRCm39)	nonsense	probably null
IGL02868:Nipal3	APN	4	135,194,182 (GRCm39)	missense	probably damaging	1.00
R0189:Nipal3	UTSW	4	135,195,829 (GRCm39)	missense	possibly damaging	0.89
R0470:Nipal3	UTSW	4	135,174,683 (GRCm39)	missense	probably damaging	0.99
R0891:Nipal3	UTSW	4	135,195,898 (GRCm39)	missense	possibly damaging	0.91
R1633:Nipal3	UTSW	4	135,174,659 (GRCm39)	missense	probably benign	0.03
R1686:Nipal3	UTSW	4	135,174,599 (GRCm39)	missense	possibly damaging	0.49
R2921:Nipal3	UTSW	4	135,204,776 (GRCm39)	missense	probably damaging	1.00
R2923:Nipal3	UTSW	4	135,204,776 (GRCm39)	missense	probably damaging	1.00
R3732:Nipal3	UTSW	4	135,191,157 (GRCm39)	missense	probably damaging	1.00
R3732:Nipal3	UTSW	4	135,191,157 (GRCm39)	missense	probably damaging	1.00
R3733:Nipal3	UTSW	4	135,191,157 (GRCm39)	missense	probably damaging	1.00
R3734:Nipal3	UTSW	4	135,191,157 (GRCm39)	missense	probably damaging	1.00
R5057:Nipal3	UTSW	4	135,194,167 (GRCm39)	missense	probably damaging	1.00
R5616:Nipal3	UTSW	4	135,179,715 (GRCm39)	missense	probably benign	0.01
R5758:Nipal3	UTSW	4	135,179,874 (GRCm39)	missense	probably benign	0.02
R5779:Nipal3	UTSW	4	135,179,650 (GRCm39)	intron	probably benign
R5885:Nipal3	UTSW	4	135,199,288 (GRCm39)	missense	probably damaging	0.97
R6572:Nipal3	UTSW	4	135,174,564 (GRCm39)	missense	probably benign	0.02
R6981:Nipal3	UTSW	4	135,206,858 (GRCm39)	missense	probably damaging	1.00
R7194:Nipal3	UTSW	4	135,201,732 (GRCm39)	missense	probably benign	0.26
R7537:Nipal3	UTSW	4	135,218,248 (GRCm39)	missense	probably damaging	1.00
R8018:Nipal3	UTSW	4	135,174,659 (GRCm39)	missense	possibly damaging	0.63
R8098:Nipal3	UTSW	4	135,179,709 (GRCm39)	missense	possibly damaging	0.87
R8503:Nipal3	UTSW	4	135,206,892 (GRCm39)	missense	probably damaging	1.00
R9651:Nipal3	UTSW	4	135,174,634 (GRCm39)	nonsense	probably null
X0066:Nipal3	UTSW	4	135,174,566 (GRCm39)	missense	probably benign	0.02

Posted On

2013-10-07