Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00160:Nphs1'

1506

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nphs1

Ensembl Gene

ENSMUSG00000006649

Gene Name

nephrosis 1, nephrin

Synonyms

nephrin

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00160

Quality Score

Status

Chromosome

Chromosomal Location

30458315-30487223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 30482551 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 1204 (W1204G)

Ref Sequence

ENSEMBL: ENSMUSP00000006825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006825] [ENSMUST00000126297]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006825
AA Change: W1204G

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006825
Gene: ENSMUSG00000006649
AA Change: W1204G

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	52	146	1.38e-6	SMART
Pfam:C2-set_2	152	242	4.1e-20	PFAM
IG	264	351	9.86e-3	SMART
IG_like	360	452	2.73e1	SMART
IG	464	556	2.99e-2	SMART
IG_like	572	644	8.9e-1	SMART
IG	667	751	1.32e-3	SMART
IG	760	849	7.3e-6	SMART
IGc2	868	941	5.4e-9	SMART
FN3	955	1036	1.01e-11	SMART
transmembrane domain	1078	1100	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123880

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126297
AA Change: W1190G

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116500
Gene: ENSMUSG00000006649
AA Change: W1190G

Domain	Start	End	E-Value	Type
IG	38	132	1.38e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131004

Predicted Effect

probably benign
Transcript: ENSMUST00000149086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208689

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	T	C	16: 92,321,002	K133E	possibly damaging	Het
4931406P16Rik	G	A	7: 34,239,006	H1035Y	possibly damaging	Het
4932414N04Rik	C	T	2: 68,732,875	A387V	probably benign	Het
Adamts3	C	T	5: 89,861,325	V160I	probably damaging	Het
Arhgef26	T	C	3: 62,340,383	V296A	probably benign	Het
Bdp1	A	T	13: 100,061,198	M893K	probably benign	Het
Camk2d	T	A	3: 126,838,272	C407*	probably null	Het
Casc1	T	A	6: 145,175,290	H601L	probably benign	Het
Ces1h	T	C	8: 93,357,463	D373G	probably benign	Het
Ces2f	A	T	8: 104,949,973	N100Y	probably damaging	Het
Ces2f	A	T	8: 104,949,972	Q99H	probably damaging	Het
Dlg5	T	C	14: 24,191,161	T223A	probably damaging	Het
Dnmt3l	A	G	10: 78,057,355	D322G	probably damaging	Het
Fbxl20	C	T	11: 98,090,674	G396D	possibly damaging	Het
Gldc	T	C	19: 30,115,240	T760A	probably damaging	Het
Gm6483	T	A	8: 19,691,647		noncoding transcript	Het
Hcrtr2	A	T	9: 76,228,155	V460D	possibly damaging	Het
Kif14	G	A	1: 136,469,018	S354N	probably benign	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mrgpra2a	A	T	7: 47,426,538	M324K	probably damaging	Het
N4bp3	C	T	11: 51,645,316	A230T	probably benign	Het
Obscn	C	A	11: 59,002,057	A6788S	probably benign	Het
Ofcc1	T	C	13: 40,142,804	D518G	probably damaging	Het
Optc	T	C	1: 133,902,108	Y188C	probably damaging	Het
Prss45	C	A	9: 110,841,005	A285E	probably damaging	Het
Rcan2	C	T	17: 44,037,069	T223I	possibly damaging	Het
Snrnp70	A	G	7: 45,377,354		probably null	Het
Sorbs1	T	A	19: 40,318,029	T1064S	probably damaging	Het
Sptb	T	C	12: 76,623,169	K462E	probably damaging	Het
Sstr1	A	G	12: 58,212,750	E53G	probably benign	Het
Stxbp2	A	T	8: 3,636,354		probably null	Het
Tex35	G	A	1: 157,099,756		probably benign	Het
Thnsl1	T	C	2: 21,212,449	F338S	possibly damaging	Het
Trpv1	C	T	11: 73,260,362	A424V	probably damaging	Het
Unc80	A	T	1: 66,654,395	H2535L	possibly damaging	Het
Usp46	T	C	5: 74,002,686	E333G	probably null	Het
Vmn1r27	T	C	6: 58,215,134	Y245C	probably benign	Het
Zfp488	T	C	14: 33,971,069	M46V	probably benign	Het
Zfp566	G	T	7: 30,078,511	Q82K	probably benign	Het
Znhit6	T	C	3: 145,578,160	S62P	probably damaging	Het
Znrf3	T	C	11: 5,289,039	H108R	probably damaging	Het

Other mutations in Nphs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Nphs1	APN	7	30460739	unclassified	probably benign
IGL00976:Nphs1	APN	7	30460685	missense	possibly damaging	0.78
IGL01397:Nphs1	APN	7	30486664	missense	probably benign	0.01
IGL01465:Nphs1	APN	7	30486714	makesense	probably null
IGL01889:Nphs1	APN	7	30460511	missense	probably damaging	1.00
IGL02383:Nphs1	APN	7	30481635	splice site	probably benign
R0020:Nphs1	UTSW	7	30463208	missense	probably benign	0.01
R0485:Nphs1	UTSW	7	30467515	missense	probably benign
R1024:Nphs1	UTSW	7	30474277	missense	probably damaging	1.00
R1115:Nphs1	UTSW	7	30481378	splice site	probably benign
R1144:Nphs1	UTSW	7	30481678	splice site	probably benign
R1289:Nphs1	UTSW	7	30471178	missense	probably damaging	1.00
R1317:Nphs1	UTSW	7	30481831	splice site	probably benign
R1617:Nphs1	UTSW	7	30482531	missense	probably benign
R1756:Nphs1	UTSW	7	30461534	missense	probably benign	0.00
R1937:Nphs1	UTSW	7	30474373	missense	probably damaging	1.00
R2144:Nphs1	UTSW	7	30460970	missense	probably benign	0.13
R2256:Nphs1	UTSW	7	30467992	missense	possibly damaging	0.94
R2257:Nphs1	UTSW	7	30467992	missense	possibly damaging	0.94
R2277:Nphs1	UTSW	7	30467564	nonsense	probably null
R3104:Nphs1	UTSW	7	30467540	nonsense	probably null
R3106:Nphs1	UTSW	7	30467540	nonsense	probably null
R3151:Nphs1	UTSW	7	30460240	missense	probably benign
R3765:Nphs1	UTSW	7	30471210	missense	probably damaging	0.98
R4078:Nphs1	UTSW	7	30467520	nonsense	probably null
R4397:Nphs1	UTSW	7	30481965	splice site	probably null
R4635:Nphs1	UTSW	7	30468007	missense	probably benign	0.39
R4650:Nphs1	UTSW	7	30482470	missense	probably benign	0.21
R4811:Nphs1	UTSW	7	30460429	missense	probably damaging	1.00
R4850:Nphs1	UTSW	7	30463232	missense	possibly damaging	0.78
R5272:Nphs1	UTSW	7	30481642	missense	possibly damaging	0.86
R5327:Nphs1	UTSW	7	30463825	missense	probably benign	0.00
R5681:Nphs1	UTSW	7	30486625	missense	probably benign	0.00
R5865:Nphs1	UTSW	7	30474385	missense	probably damaging	1.00
R5975:Nphs1	UTSW	7	30466115	missense	possibly damaging	0.82
R6186:Nphs1	UTSW	7	30465634	missense	probably damaging	0.98
R6198:Nphs1	UTSW	7	30467915	missense	probably damaging	0.97
R6353:Nphs1	UTSW	7	30474544	missense	probably damaging	0.99
R7405:Nphs1	UTSW	7	30462828	missense	possibly damaging	0.46
R7647:Nphs1	UTSW	7	30481965	splice site	probably null
R7767:Nphs1	UTSW	7	30463308	missense	probably damaging	1.00
R8132:Nphs1	UTSW	7	30482053	missense	probably benign	0.02
X0028:Nphs1	UTSW	7	30467504	missense	probably null	0.01
Z1177:Nphs1	UTSW	7	30470903	missense	probably damaging	1.00

Posted On

2011-07-12