Incidental Mutation 'IGL01922:Nphp1'
ID180142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nphp1
Ensembl Gene ENSMUSG00000027378
Gene Namenephronophthisis 1 (juvenile) homolog (human)
Synonymsnephrocystin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01922
Quality Score
Status
Chromosome2
Chromosomal Location127740732-127788897 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 127780069 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 46 (Y46C)
Ref Sequence ENSEMBL: ENSMUSP00000028857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028857] [ENSMUST00000110357]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028857
AA Change: Y46C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028857
Gene: ENSMUSG00000027378
AA Change: Y46C

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000110357
AA Change: Y46C

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105986
Gene: ENSMUSG00000027378
AA Change: Y46C

DomainStartEndE-ValueType
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,270,821 K3204R unknown Het
Adam12 C A 7: 133,937,472 G104* probably null Het
Adamtsl1 A G 4: 86,249,902 K477R probably damaging Het
Arhgap35 A C 7: 16,564,255 V295G possibly damaging Het
Cacna1c A T 6: 118,652,668 I1234N probably damaging Het
Ccdc151 G T 9: 21,993,530 probably benign Het
Cntnap5c A G 17: 58,330,119 E997G possibly damaging Het
Cog6 T C 3: 52,986,425 N601S probably benign Het
Col28a1 G T 6: 8,158,133 D308E probably damaging Het
Cspg4 G A 9: 56,887,887 D969N probably damaging Het
Dhx8 G A 11: 101,739,807 V347I probably damaging Het
Dnah9 G T 11: 66,075,034 probably benign Het
Erap1 T C 13: 74,662,387 Y282H probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H2-T3 A G 17: 36,187,100 M307T possibly damaging Het
Ifi204 T C 1: 173,761,722 I48V possibly damaging Het
Myh1 T C 11: 67,210,466 probably null Het
Olfr128 A T 17: 37,923,959 H131L possibly damaging Het
Olfr325 G A 11: 58,581,073 M76I probably benign Het
Piezo1 G T 8: 122,492,692 S1066R probably benign Het
Plekhh1 T C 12: 79,079,579 S1353P probably benign Het
Prl6a1 A T 13: 27,315,360 D37V possibly damaging Het
Scn4a A G 11: 106,339,152 probably null Het
Selenoo T C 15: 89,099,649 V585A probably benign Het
Tmf1 T C 6: 97,176,930 T61A probably benign Het
Tshz3 A G 7: 36,769,605 T340A probably damaging Het
Unc50 A G 1: 37,437,203 D148G probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpc C T 6: 91,505,425 R192H probably damaging Het
Other mutations in Nphp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Nphp1 APN 2 127763885 missense probably damaging 0.99
IGL00589:Nphp1 APN 2 127763849 missense probably damaging 1.00
IGL01143:Nphp1 APN 2 127780136 missense probably benign 0.06
IGL01893:Nphp1 APN 2 127769644 missense probably damaging 1.00
IGL02123:Nphp1 APN 2 127754049 missense probably benign 0.03
IGL02340:Nphp1 APN 2 127780067 nonsense probably null
IGL02836:Nphp1 APN 2 127769623 missense probably benign 0.00
IGL03109:Nphp1 APN 2 127768169 critical splice donor site probably benign
R1632:Nphp1 UTSW 2 127770392 missense probably benign 0.32
R1857:Nphp1 UTSW 2 127770376 missense probably benign 0.00
R4425:Nphp1 UTSW 2 127788799 missense possibly damaging 0.82
R4514:Nphp1 UTSW 2 127748087 missense probably benign 0.26
R4546:Nphp1 UTSW 2 127766019 splice site probably null
R4580:Nphp1 UTSW 2 127768169 critical splice donor site probably null
R5634:Nphp1 UTSW 2 127759650 missense possibly damaging 0.81
R7152:Nphp1 UTSW 2 127753979 missense probably benign
R7326:Nphp1 UTSW 2 127761217 missense possibly damaging 0.76
R8029:Nphp1 UTSW 2 127741116 missense probably benign 0.00
X0022:Nphp1 UTSW 2 127761214 missense probably damaging 1.00
X0025:Nphp1 UTSW 2 127779127 missense probably benign 0.16
Posted On2014-05-07