Incidental Mutation 'IGL00589:Nphp1'
ID7041
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 #IGL00589
Quality Score
Status
Chromosome2
Chromosomal Location127740732-127788897 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127763849 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 352 (I352T)
Ref Sequence ENSEMBL: ENSMUSP00000028857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028857] [ENSMUST00000110357]
Predicted Effect probably damaging
Transcript: ENSMUST00000028857
AA Change: I352T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028857
Gene: ENSMUSG00000027378
AA Change: I352T

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 probably damaging
Transcript: ENSMUST00000110357
AA Change: I351T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105986
Gene: ENSMUSG00000027378
AA Change: I351T

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot9 A T X: 155,295,240 I261L possibly damaging Het
Adcy8 A T 15: 64,787,367 F525I probably damaging Het
Ahr A T 12: 35,504,097 Y674* probably null Het
Baz1b A G 5: 135,196,492 E43G possibly damaging Het
Ccz1 T C 5: 144,012,895 T72A probably damaging Het
Chd9 G A 8: 91,015,846 R1629H probably damaging Het
Ell3 A T 2: 121,440,280 D257E probably benign Het
Fbxw26 T C 9: 109,717,948 probably benign Het
Isg20 G A 7: 78,916,584 D94N probably damaging Het
Mettl13 A T 1: 162,542,391 S392R probably damaging Het
Ms4a1 T A 19: 11,254,559 T151S probably benign Het
Olfr20 T A 11: 73,354,043 C97S probably damaging Het
Pds5a T C 5: 65,656,344 D266G probably damaging Het
Rnf103 T C 6: 71,509,083 Y233H probably benign Het
Rwdd4a A T 8: 47,544,184 E146V probably damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Slc17a5 T C 9: 78,578,534 I90V probably benign Het
Slc38a3 G A 9: 107,658,677 L86F probably damaging Het
Tbc1d2b T C 9: 90,226,209 T430A probably benign Het
Utrn C T 10: 12,678,618 V1576M possibly damaging Het
Vwa8 T A 14: 79,038,195 L806Q probably damaging Het
Other mutations in Nphp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Nphp1 APN 2 127763885 missense probably damaging 0.99
IGL01143:Nphp1 APN 2 127780136 missense probably benign 0.06
IGL01893:Nphp1 APN 2 127769644 missense probably damaging 1.00
IGL01922:Nphp1 APN 2 127780069 missense possibly damaging 0.95
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
X0022:Nphp1 UTSW 2 127761214 missense probably damaging 1.00
X0025:Nphp1 UTSW 2 127779127 missense probably benign 0.16
Posted On2012-04-20