Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02836:Nphp1'

361662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nphp1

Ensembl Gene

ENSMUSG00000027378

Gene Name

nephronophthisis 1 (juvenile) homolog (human)

Synonyms

nephrocystin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02836

Quality Score

Status

Chromosome

Chromosomal Location

127582652-127630817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127611543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 268 (I268V)

Ref Sequence

ENSEMBL: ENSMUSP00000028857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028857] [ENSMUST00000110357]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028857
AA Change: I268V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028857
Gene: ENSMUSG00000027378
AA Change: I268V

Domain	Start	End	E-Value	Type
low complexity region	118	143	N/A	INTRINSIC
SH3	158	214	5.91e-19	SMART
low complexity region	220	246	N/A	INTRINSIC
Blast:14_3_3	391	491	3e-55	BLAST
low complexity region	634	641	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110357
AA Change: I268V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105986
Gene: ENSMUSG00000027378
AA Change: I268V

Domain	Start	End	E-Value	Type
low complexity region	118	143	N/A	INTRINSIC
SH3	158	214	5.91e-19	SMART
low complexity region	220	246	N/A	INTRINSIC
Blast:14_3_3	390	490	3e-55	BLAST
low complexity region	633	640	N/A	INTRINSIC

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 protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit male infertility due to defects in sperm maturation. Mice homozygous for another knock-out allele exhibit absent photoreceptor outer segment and photoreceptor degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,349,782 (GRCm39)	N346K	possibly damaging	Het
Abca15	A	G	7: 119,987,439 (GRCm39)	M1242V	probably benign	Het
Abca6	T	A	11: 110,139,374 (GRCm39)	E33D	probably damaging	Het
Abca8a	T	C	11: 109,961,177 (GRCm39)	K582E	possibly damaging	Het
Abcb6	A	G	1: 75,154,646 (GRCm39)	L263P	probably damaging	Het
Adamts2	A	C	11: 50,678,106 (GRCm39)	E795A	probably damaging	Het
Avil	T	A	10: 126,844,864 (GRCm39)	I292N	probably damaging	Het
Cd300ld2	T	C	11: 114,904,576 (GRCm39)	D97G	probably benign	Het
Cfh	A	C	1: 140,030,137 (GRCm39)	I912R	probably damaging	Het
Cyp26c1	A	T	19: 37,675,604 (GRCm39)	Q156L	probably benign	Het
Dhx57	T	C	17: 80,574,978 (GRCm39)	I614V	probably damaging	Het
Dip2c	T	A	13: 9,660,826 (GRCm39)	S896T	probably damaging	Het
Dmtn	G	T	14: 70,853,518 (GRCm39)	P97Q	probably damaging	Het
Dock6	A	T	9: 21,713,160 (GRCm39)	V1931E	probably damaging	Het
Dpep2	C	A	8: 106,717,227 (GRCm39)		probably null	Het
Dsg1c	T	A	18: 20,400,986 (GRCm39)	L163Q	probably benign	Het
Esyt3	A	G	9: 99,202,960 (GRCm39)		probably benign	Het
Fcgbp	T	A	7: 27,816,783 (GRCm39)	I2415N	possibly damaging	Het
Fpr-rs6	T	C	17: 20,403,307 (GRCm39)	D18G	probably benign	Het
Fras1	T	C	5: 96,682,725 (GRCm39)	V74A	possibly damaging	Het
Frem3	T	C	8: 81,341,010 (GRCm39)	V1101A	probably benign	Het
Fut8	T	A	12: 77,496,987 (GRCm39)	V399E	probably benign	Het
Galntl5	G	T	5: 25,391,237 (GRCm39)	K45N	probably benign	Het
Gbe1	A	G	16: 70,357,983 (GRCm39)	Y669C	possibly damaging	Het
Gcnt1	T	C	19: 17,307,493 (GRCm39)	I77M	probably benign	Het
Itprid1	T	A	6: 55,875,075 (GRCm39)	W342R	probably damaging	Het
Mark2	A	G	19: 7,255,405 (GRCm39)		probably null	Het
Muc2	A	T	7: 141,300,450 (GRCm39)		probably benign	Het
Nacc2	C	T	2: 25,980,329 (GRCm39)	V36I	probably damaging	Het
Oosp3	A	G	19: 11,678,332 (GRCm39)	I5V	probably benign	Het
Or9m1	T	G	2: 87,733,724 (GRCm39)	T99P	possibly damaging	Het
Pex7	A	G	10: 19,769,990 (GRCm39)		probably benign	Het
Prr14l	T	C	5: 32,988,440 (GRCm39)	K352E	probably benign	Het
Rheb	T	A	5: 25,008,709 (GRCm39)	I170F	probably benign	Het
Rpgrip1	A	G	14: 52,382,714 (GRCm39)		probably null	Het
Rps2	T	A	17: 24,939,650 (GRCm39)	L107Q	probably damaging	Het
Rrp1	A	T	10: 78,240,874 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,779,806 (GRCm39)	V288D	possibly damaging	Het
Sec14l3	T	C	11: 4,020,084 (GRCm39)	F174L	probably benign	Het
Slc28a1	G	A	7: 80,775,909 (GRCm39)	V202M	probably damaging	Het
Slc44a3	A	T	3: 121,325,366 (GRCm39)	C32S	probably damaging	Het
Syne1	G	A	10: 5,359,875 (GRCm39)		probably benign	Het
Synrg	C	A	11: 83,892,804 (GRCm39)		probably benign	Het
Tmem219	A	T	7: 126,488,121 (GRCm39)	F265I	probably benign	Het
Tmem94	T	C	11: 115,683,765 (GRCm39)	I726T	probably damaging	Het
Trim37	T	C	11: 87,087,785 (GRCm39)	M632T	probably benign	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Uvrag	A	G	7: 98,628,984 (GRCm39)	V361A	possibly damaging	Het
Yipf3	C	A	17: 46,562,520 (GRCm39)	N308K	possibly damaging	Het
Zfp438	A	G	18: 5,245,427 (GRCm39)		probably benign	Het
Zmiz1	T	A	14: 25,657,166 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 127,888,562 (GRCm39)	V841A	probably benign	Het

Other mutations in Nphp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Nphp1	APN	2	127,605,805 (GRCm39)	missense	probably damaging	0.99
IGL00589:Nphp1	APN	2	127,605,769 (GRCm39)	missense	probably damaging	1.00
IGL01143:Nphp1	APN	2	127,622,056 (GRCm39)	missense	probably benign	0.06
IGL01893:Nphp1	APN	2	127,611,564 (GRCm39)	missense	probably damaging	1.00
IGL01922:Nphp1	APN	2	127,621,989 (GRCm39)	missense	possibly damaging	0.95
IGL02123:Nphp1	APN	2	127,595,969 (GRCm39)	missense	probably benign	0.03
IGL02340:Nphp1	APN	2	127,621,987 (GRCm39)	nonsense	probably null
IGL03109:Nphp1	APN	2	127,610,089 (GRCm39)	critical splice donor site	probably benign
R1632:Nphp1	UTSW	2	127,612,312 (GRCm39)	missense	probably benign	0.32
R1857:Nphp1	UTSW	2	127,612,296 (GRCm39)	missense	probably benign	0.00
R4425:Nphp1	UTSW	2	127,630,719 (GRCm39)	missense	possibly damaging	0.82
R4514:Nphp1	UTSW	2	127,590,007 (GRCm39)	missense	probably benign	0.26
R4546:Nphp1	UTSW	2	127,607,939 (GRCm39)	splice site	probably null
R4580:Nphp1	UTSW	2	127,610,089 (GRCm39)	critical splice donor site	probably null
R5634:Nphp1	UTSW	2	127,601,570 (GRCm39)	missense	possibly damaging	0.81
R7152:Nphp1	UTSW	2	127,595,899 (GRCm39)	missense	probably benign
R7326:Nphp1	UTSW	2	127,603,137 (GRCm39)	missense	possibly damaging	0.76
R7985:Nphp1	UTSW	2	127,587,829 (GRCm39)	missense	probably damaging	0.97
R8029:Nphp1	UTSW	2	127,583,036 (GRCm39)	missense	probably benign	0.00
R8715:Nphp1	UTSW	2	127,605,729 (GRCm39)	missense	possibly damaging	0.91
R8967:Nphp1	UTSW	2	127,582,897 (GRCm39)	missense	probably damaging	1.00
R8997:Nphp1	UTSW	2	127,595,982 (GRCm39)	missense	possibly damaging	0.88
R9328:Nphp1	UTSW	2	127,582,892 (GRCm39)	missense	possibly damaging	0.77
R9450:Nphp1	UTSW	2	127,616,008 (GRCm39)	missense
R9755:Nphp1	UTSW	2	127,595,951 (GRCm39)	nonsense	probably null
X0022:Nphp1	UTSW	2	127,603,134 (GRCm39)	missense	probably damaging	1.00
X0025:Nphp1	UTSW	2	127,621,047 (GRCm39)	missense	probably benign	0.16

Posted On

2015-12-18