Mutagenetix > Incidental Mutation

Incidental Mutation 'R7767:Nphs1'

598294

Institutional Source

Beutler Lab

Gene Symbol

Nphs1

Ensembl Gene

ENSMUSG00000006649

Gene Name

nephrosis 1, nephrin

Synonyms

nephrin

MMRRC Submission

045823-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7767 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30157740-30186648 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30162733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 404 (D404V)

Ref Sequence

ENSEMBL: ENSMUSP00000006825 (fasta)

Gene Model

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

AlphaFold

Q9QZS7

Predicted Effect

probably damaging
Transcript: ENSMUST00000006825
AA Change: D404V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006825
Gene: ENSMUSG00000006649
AA Change: D404V

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

probably damaging
Transcript: ENSMUST00000126297
AA Change: D390V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116500
Gene: ENSMUSG00000006649
AA Change: D390V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	C	A	1: 58,274,366 (GRCm39)	S384Y	probably damaging	Het
Arhgef15	T	C	11: 68,844,673 (GRCm39)	E308G	probably damaging	Het
Asb15	A	G	6: 24,559,281 (GRCm39)	D142G	probably benign	Het
Atg13	A	G	2: 91,509,711 (GRCm39)	S394P	probably damaging	Het
Atp10a	G	C	7: 58,308,597 (GRCm39)	W132S	probably damaging	Het
Bltp1	G	T	3: 36,974,436 (GRCm39)		probably null	Het
Bod1l	T	A	5: 41,974,099 (GRCm39)	N2405I	probably benign	Het
Capsl	C	T	15: 9,462,770 (GRCm39)	R137C	probably damaging	Het
Cd109	T	A	9: 78,617,441 (GRCm39)	M1313K	probably damaging	Het
Chst13	G	A	6: 90,286,566 (GRCm39)	A132V	possibly damaging	Het
Cobl	T	C	11: 12,362,117 (GRCm39)		probably benign	Het
Coq9	A	T	8: 95,577,214 (GRCm39)	E193V	probably benign	Het
Cpd	T	A	11: 76,704,385 (GRCm39)	I410F	probably benign	Het
Cyth3	T	G	5: 143,693,229 (GRCm39)	V351G	probably damaging	Het
Dcdc2c	T	C	12: 28,520,256 (GRCm39)	K607E		Het
Dcp1a	T	C	14: 30,201,775 (GRCm39)		probably null	Het
Dennd3	A	G	15: 73,394,079 (GRCm39)	I35V	probably benign	Het
Dlgap4	C	T	2: 156,587,973 (GRCm39)	R606W	probably damaging	Het
Dnhd1	A	G	7: 105,343,817 (GRCm39)	I1720M	probably benign	Het
Erbin	A	G	13: 103,995,907 (GRCm39)	L265P	probably damaging	Het
Ern1	T	C	11: 106,291,134 (GRCm39)	D847G	probably damaging	Het
Esyt3	T	G	9: 99,207,024 (GRCm39)	S342R	probably benign	Het
Exoc2	A	T	13: 31,060,752 (GRCm39)	I584K	probably benign	Het
Fam240a	T	C	9: 110,744,090 (GRCm39)	R50G	probably damaging	Het
Glis3	A	T	19: 28,241,360 (GRCm39)	M858K	probably benign	Het
Gls2	C	T	10: 128,030,998 (GRCm39)	R86C	unknown	Het
Gm10972	C	A	3: 94,550,901 (GRCm39)	Y25*	probably null	Het
H2-T10	A	T	17: 36,428,622 (GRCm39)	M350K	probably benign	Het
Has1	A	T	17: 18,070,792 (GRCm39)	V43D	probably damaging	Het
Herc2	T	A	7: 55,878,275 (GRCm39)	S4609R	probably benign	Het
Hmgcs2	A	C	3: 98,198,582 (GRCm39)	T162P	probably damaging	Het
Hspg2	G	T	4: 137,239,177 (GRCm39)	C368F	probably damaging	Het
Ighv11-1	A	G	12: 113,945,722 (GRCm39)	S44P	probably damaging	Het
Inppl1	A	G	7: 101,473,545 (GRCm39)	V1035A	probably benign	Het
Kmt2a	C	T	9: 44,730,295 (GRCm39)	V3341I	unknown	Het
Lrp1b	T	C	2: 40,691,517 (GRCm39)	N3434S		Het
Lrriq1	G	C	10: 103,051,815 (GRCm39)	S312R	probably damaging	Het
Map1a	G	A	2: 121,132,517 (GRCm39)	S1111N	probably damaging	Het
Myo15a	T	C	11: 60,392,922 (GRCm39)	V1029A		Het
Nol11	T	C	11: 107,069,908 (GRCm39)	H314R	possibly damaging	Het
Odr4	A	G	1: 150,247,788 (GRCm39)	V387A	probably benign	Het
Or51r1	A	T	7: 102,220,971 (GRCm39)		probably benign	Het
Pabpc2	T	C	18: 39,907,607 (GRCm39)	Y291H	possibly damaging	Het
Pcdh15	G	A	10: 74,322,088 (GRCm39)	A1020T	probably benign	Het
Pla2g4f	A	C	2: 120,135,490 (GRCm39)	S395A	possibly damaging	Het
Ppp1r18	A	G	17: 36,178,176 (GRCm39)	Q17R	probably damaging	Het
Prokr2	A	T	2: 132,215,996 (GRCm39)	V155D	probably damaging	Het
Pwwp2a	T	G	11: 43,596,696 (GRCm39)	C620W	probably damaging	Het
Rabepk	T	C	2: 34,675,605 (GRCm39)	D175G	probably damaging	Het
Rad54l	T	C	4: 115,956,866 (GRCm39)	Y485C	probably damaging	Het
Rasef	A	G	4: 73,652,771 (GRCm39)	S577P	probably damaging	Het
Rgma	C	A	7: 73,067,752 (GRCm39)	L446I	unknown	Het
Rnf212b	T	C	14: 55,079,825 (GRCm39)	S182P	probably damaging	Het
Rnf6	C	A	5: 146,147,986 (GRCm39)	R344I	probably damaging	Het
Rnf6	T	A	5: 146,147,987 (GRCm39)	R344*	probably null	Het
Sgo1	A	G	17: 53,986,639 (GRCm39)	I184T	possibly damaging	Het
Sgpl1	A	T	10: 60,953,502 (GRCm39)	I78N	possibly damaging	Het
Snx13	T	A	12: 35,157,483 (GRCm39)	Y510N	probably damaging	Het
Sptbn2	G	A	19: 4,784,171 (GRCm39)	E638K	possibly damaging	Het
Sspo	A	G	6: 48,428,316 (GRCm39)	T349A	probably damaging	Het
Sv2c	C	T	13: 96,126,223 (GRCm39)	S343N	probably damaging	Het
Syne1	C	A	10: 5,283,560 (GRCm39)	V1502F	possibly damaging	Het
Syne1	T	A	10: 5,283,632 (GRCm39)	I1478F	possibly damaging	Het
Tmem121	C	T	12: 113,151,992 (GRCm39)	A70V	probably damaging	Het
Tmem215	A	G	4: 40,474,042 (GRCm39)	I40V	possibly damaging	Het
Trim25	A	G	11: 88,899,943 (GRCm39)		probably null	Het
Trio	A	G	15: 27,889,504 (GRCm39)	V534A	unknown	Het
Tyr	T	A	7: 87,142,218 (GRCm39)	E114V	probably benign	Het
Ush2a	A	T	1: 188,285,457 (GRCm39)	T1998S	probably benign	Het
Usp40	G	T	1: 87,909,900 (GRCm39)	A518E	probably benign	Het
Usp48	T	A	4: 137,331,956 (GRCm39)		probably null	Het
Vash1	T	A	12: 86,733,767 (GRCm39)	F152L	probably damaging	Het
Vsig10l	C	A	7: 43,113,141 (GRCm39)	P31Q	probably damaging	Het
Xab2	C	T	8: 3,669,018 (GRCm39)	E43K	probably benign	Het
Zfp423	G	A	8: 88,507,512 (GRCm39)	S944F	probably damaging	Het
Zp2	A	T	7: 119,736,392 (GRCm39)	D350E	probably benign	Het
Zscan4e	T	G	7: 11,041,461 (GRCm39)	Q165P	probably damaging	Het

Other mutations in Nphs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Nphs1	APN	7	30,181,976 (GRCm39)	missense	possibly damaging	0.77
IGL00927:Nphs1	APN	7	30,160,164 (GRCm39)	unclassified	probably benign
IGL00976:Nphs1	APN	7	30,160,110 (GRCm39)	missense	possibly damaging	0.78
IGL01397:Nphs1	APN	7	30,186,089 (GRCm39)	missense	probably benign	0.01
IGL01465:Nphs1	APN	7	30,186,139 (GRCm39)	makesense	probably null
IGL01889:Nphs1	APN	7	30,159,936 (GRCm39)	missense	probably damaging	1.00
IGL02383:Nphs1	APN	7	30,181,060 (GRCm39)	splice site	probably benign
R0020:Nphs1	UTSW	7	30,162,633 (GRCm39)	missense	probably benign	0.01
R0485:Nphs1	UTSW	7	30,166,940 (GRCm39)	missense	probably benign
R1024:Nphs1	UTSW	7	30,173,702 (GRCm39)	missense	probably damaging	1.00
R1115:Nphs1	UTSW	7	30,180,803 (GRCm39)	splice site	probably benign
R1144:Nphs1	UTSW	7	30,181,103 (GRCm39)	splice site	probably benign
R1289:Nphs1	UTSW	7	30,170,603 (GRCm39)	missense	probably damaging	1.00
R1317:Nphs1	UTSW	7	30,181,256 (GRCm39)	splice site	probably benign
R1617:Nphs1	UTSW	7	30,181,956 (GRCm39)	missense	probably benign
R1756:Nphs1	UTSW	7	30,160,959 (GRCm39)	missense	probably benign	0.00
R1937:Nphs1	UTSW	7	30,173,798 (GRCm39)	missense	probably damaging	1.00
R2144:Nphs1	UTSW	7	30,160,395 (GRCm39)	missense	probably benign	0.13
R2256:Nphs1	UTSW	7	30,167,417 (GRCm39)	missense	possibly damaging	0.94
R2257:Nphs1	UTSW	7	30,167,417 (GRCm39)	missense	possibly damaging	0.94
R2277:Nphs1	UTSW	7	30,166,989 (GRCm39)	nonsense	probably null
R3104:Nphs1	UTSW	7	30,166,965 (GRCm39)	nonsense	probably null
R3106:Nphs1	UTSW	7	30,166,965 (GRCm39)	nonsense	probably null
R3151:Nphs1	UTSW	7	30,159,665 (GRCm39)	missense	probably benign
R3765:Nphs1	UTSW	7	30,170,635 (GRCm39)	missense	probably damaging	0.98
R4078:Nphs1	UTSW	7	30,166,945 (GRCm39)	nonsense	probably null
R4397:Nphs1	UTSW	7	30,181,390 (GRCm39)	splice site	probably null
R4635:Nphs1	UTSW	7	30,167,432 (GRCm39)	missense	probably benign	0.39
R4650:Nphs1	UTSW	7	30,181,895 (GRCm39)	missense	probably benign	0.21
R4811:Nphs1	UTSW	7	30,159,854 (GRCm39)	missense	probably damaging	1.00
R4850:Nphs1	UTSW	7	30,162,657 (GRCm39)	missense	possibly damaging	0.78
R5272:Nphs1	UTSW	7	30,181,067 (GRCm39)	missense	possibly damaging	0.86
R5327:Nphs1	UTSW	7	30,163,250 (GRCm39)	missense	probably benign	0.00
R5681:Nphs1	UTSW	7	30,186,050 (GRCm39)	missense	probably benign	0.00
R5865:Nphs1	UTSW	7	30,173,810 (GRCm39)	missense	probably damaging	1.00
R5975:Nphs1	UTSW	7	30,165,540 (GRCm39)	missense	possibly damaging	0.82
R6186:Nphs1	UTSW	7	30,165,059 (GRCm39)	missense	probably damaging	0.98
R6198:Nphs1	UTSW	7	30,167,340 (GRCm39)	missense	probably damaging	0.97
R6353:Nphs1	UTSW	7	30,173,969 (GRCm39)	missense	probably damaging	0.99
R7405:Nphs1	UTSW	7	30,162,253 (GRCm39)	missense	possibly damaging	0.46
R7647:Nphs1	UTSW	7	30,181,390 (GRCm39)	splice site	probably null
R8132:Nphs1	UTSW	7	30,181,478 (GRCm39)	missense	probably benign	0.02
R8485:Nphs1	UTSW	7	30,165,598 (GRCm39)	missense	probably damaging	0.98
R8678:Nphs1	UTSW	7	30,163,284 (GRCm39)	missense	probably damaging	1.00
R8890:Nphs1	UTSW	7	30,162,080 (GRCm39)	missense	probably damaging	1.00
R8946:Nphs1	UTSW	7	30,162,625 (GRCm39)	missense	probably damaging	1.00
R9133:Nphs1	UTSW	7	30,160,092 (GRCm39)	nonsense	probably null
R9159:Nphs1	UTSW	7	30,165,026 (GRCm39)	missense	possibly damaging	0.93
R9347:Nphs1	UTSW	7	30,170,594 (GRCm39)	missense	probably damaging	1.00
R9547:Nphs1	UTSW	7	30,180,875 (GRCm39)	missense	probably benign	0.00
R9548:Nphs1	UTSW	7	30,180,875 (GRCm39)	missense	probably benign	0.00
R9607:Nphs1	UTSW	7	30,163,012 (GRCm39)	missense	probably damaging	1.00
R9626:Nphs1	UTSW	7	30,166,991 (GRCm39)	missense	probably benign	0.16
R9720:Nphs1	UTSW	7	30,165,499 (GRCm39)	missense	possibly damaging	0.83
R9733:Nphs1	UTSW	7	30,166,955 (GRCm39)	missense	probably damaging	1.00
X0028:Nphs1	UTSW	7	30,166,929 (GRCm39)	missense	probably null	0.01
Z1177:Nphs1	UTSW	7	30,170,328 (GRCm39)	missense	probably damaging	1.00
Z1186:Nphs1	UTSW	7	30,159,775 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGACCCTGGCCTGAATTCC -3'
(R):5'- GGAGTGAGCTTCAGATTTACGG -3'

Sequencing Primer
(F):5'- GAATTCCCATCTCTCCTTGGTGTG -3'
(R):5'- CTTCAGATTTACGGCCCGAGAAG -3'

Posted On

2019-11-26