Incidental Mutation 'IGL00731:Npnt'
ID 12772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npnt
Ensembl Gene ENSMUSG00000040998
Gene Name nephronectin
Synonyms POEM, 1110009H02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL00731
Quality Score
Status
Chromosome 3
Chromosomal Location 132587506-132656052 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 132610418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042729] [ENSMUST00000042744] [ENSMUST00000093971] [ENSMUST00000117164] [ENSMUST00000117456] [ENSMUST00000117811]
AlphaFold Q91V88
Predicted Effect probably null
Transcript: ENSMUST00000042729
SMART Domains Protein: ENSMUSP00000040071
Gene: ENSMUSG00000040998

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EGF 76 104 1.53e-1 SMART
EGF_CA 106 145 1.85e-9 SMART
EGF 149 185 1.73e1 SMART
EGF 189 230 7.53e-1 SMART
EGF_CA 231 271 5.31e-10 SMART
low complexity region 324 383 N/A INTRINSIC
Pfam:MAM 439 578 8.2e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000042744
SMART Domains Protein: ENSMUSP00000040684
Gene: ENSMUSG00000040998

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EGF 59 87 7.6e-4 SMART
EGF_CA 89 128 9e-12 SMART
EGF 132 168 8.5e-2 SMART
EGF 172 213 3.5e-3 SMART
EGF_CA 214 254 2.6e-12 SMART
low complexity region 307 366 N/A INTRINSIC
MAM 417 560 1.4e-11 SMART
Predicted Effect probably null
Transcript: ENSMUST00000093971
SMART Domains Protein: ENSMUSP00000091505
Gene: ENSMUSG00000040998

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EGF 76 104 1.53e-1 SMART
EGF_CA 137 176 1.85e-9 SMART
EGF 180 216 1.73e1 SMART
EGF 220 261 7.53e-1 SMART
EGF_CA 262 302 5.31e-10 SMART
low complexity region 355 414 N/A INTRINSIC
Pfam:MAM 470 609 1.9e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117164
SMART Domains Protein: ENSMUSP00000113419
Gene: ENSMUSG00000040998

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EGF 59 87 1.53e-1 SMART
EGF_CA 120 159 1.85e-9 SMART
EGF 163 199 1.73e1 SMART
EGF 203 244 7.53e-1 SMART
EGF_CA 245 285 5.31e-10 SMART
low complexity region 338 397 N/A INTRINSIC
Pfam:MAM 453 592 8.6e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117456
SMART Domains Protein: ENSMUSP00000112816
Gene: ENSMUSG00000040998

DomainStartEndE-ValueType
EGF 28 64 1.73e1 SMART
EGF 68 109 7.53e-1 SMART
EGF_CA 110 150 5.31e-10 SMART
low complexity region 203 262 N/A INTRINSIC
Pfam:MAM 318 457 5.3e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117811
SMART Domains Protein: ENSMUSP00000113752
Gene: ENSMUSG00000040998

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EGF 59 87 1.53e-1 SMART
EGF_CA 89 128 1.85e-9 SMART
EGF 132 168 1.73e1 SMART
EGF 172 213 7.53e-1 SMART
EGF_CA 214 254 5.31e-10 SMART
low complexity region 307 366 N/A INTRINSIC
Pfam:MAM 393 532 3.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132732
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele frequently exhibit kidney agenesis or hypoplasia attributed to a delay in the invasion of the metanephric mesenchyme by the ureteric bud at an early stage of kidney development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,771,501 (GRCm39) probably benign Het
Adcy10 T C 1: 165,400,183 (GRCm39) F1531L probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Dab2 T C 15: 6,465,191 (GRCm39) S463P possibly damaging Het
Ehf C T 2: 103,097,185 (GRCm39) probably null Het
Fnbp4 G T 2: 90,598,987 (GRCm39) V704L probably benign Het
Gbp7 T C 3: 142,252,189 (GRCm39) S591P probably benign Het
Gpr155 A G 2: 73,192,957 (GRCm39) L498P probably damaging Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Klk1b21 A G 7: 43,755,347 (GRCm39) E182G possibly damaging Het
Npat G A 9: 53,473,386 (GRCm39) E393K probably damaging Het
Pde2a A G 7: 101,157,306 (GRCm39) Y693C probably benign Het
Ralgapa1 A G 12: 55,749,237 (GRCm39) S1269P possibly damaging Het
Rasal2 A C 1: 156,985,334 (GRCm39) D804E probably benign Het
Rdh10 A G 1: 16,178,099 (GRCm39) N124D probably benign Het
Slit3 G T 11: 35,512,981 (GRCm39) D536Y probably damaging Het
Snx24 C T 18: 53,517,681 (GRCm39) probably benign Het
Spink12 G A 18: 44,241,177 (GRCm39) probably benign Het
Other mutations in Npnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Npnt APN 3 132,591,743 (GRCm39) missense probably damaging 1.00
IGL01954:Npnt APN 3 132,615,724 (GRCm39) missense probably damaging 1.00
IGL01999:Npnt APN 3 132,614,160 (GRCm39) missense probably damaging 1.00
IGL02012:Npnt APN 3 132,614,158 (GRCm39) missense probably damaging 1.00
IGL02025:Npnt APN 3 132,596,523 (GRCm39) critical splice donor site probably null
IGL02637:Npnt APN 3 132,590,271 (GRCm39) missense possibly damaging 0.90
R0234:Npnt UTSW 3 132,620,175 (GRCm39) missense possibly damaging 0.82
R0234:Npnt UTSW 3 132,620,175 (GRCm39) missense possibly damaging 0.82
R1680:Npnt UTSW 3 132,612,563 (GRCm39) missense probably benign 0.00
R1729:Npnt UTSW 3 132,620,158 (GRCm39) nonsense probably null
R1773:Npnt UTSW 3 132,610,454 (GRCm39) missense possibly damaging 0.62
R1980:Npnt UTSW 3 132,653,893 (GRCm39) missense probably benign 0.04
R1982:Npnt UTSW 3 132,653,893 (GRCm39) missense probably benign 0.04
R2338:Npnt UTSW 3 132,597,170 (GRCm39) missense probably damaging 1.00
R3800:Npnt UTSW 3 132,612,524 (GRCm39) missense probably damaging 1.00
R4739:Npnt UTSW 3 132,610,452 (GRCm39) missense possibly damaging 0.93
R4790:Npnt UTSW 3 132,596,523 (GRCm39) critical splice donor site probably benign
R5008:Npnt UTSW 3 132,612,218 (GRCm39) missense probably damaging 1.00
R5446:Npnt UTSW 3 132,614,130 (GRCm39) missense probably damaging 1.00
R5471:Npnt UTSW 3 132,620,148 (GRCm39) missense probably benign 0.05
R5538:Npnt UTSW 3 132,610,724 (GRCm39) missense probably damaging 1.00
R5673:Npnt UTSW 3 132,623,258 (GRCm39) missense probably damaging 0.97
R5683:Npnt UTSW 3 132,612,601 (GRCm39) splice site probably null
R5827:Npnt UTSW 3 132,612,536 (GRCm39) missense possibly damaging 0.89
R5857:Npnt UTSW 3 132,614,110 (GRCm39) missense probably damaging 1.00
R5910:Npnt UTSW 3 132,612,179 (GRCm39) missense probably damaging 1.00
R6208:Npnt UTSW 3 132,655,774 (GRCm39) unclassified probably benign
R6358:Npnt UTSW 3 132,610,479 (GRCm39) missense probably benign 0.18
R6875:Npnt UTSW 3 132,615,671 (GRCm39) missense probably damaging 1.00
R7025:Npnt UTSW 3 132,614,157 (GRCm39) missense probably damaging 1.00
R7145:Npnt UTSW 3 132,615,692 (GRCm39) missense probably benign 0.01
R7166:Npnt UTSW 3 132,653,889 (GRCm39) missense probably damaging 1.00
R7287:Npnt UTSW 3 132,612,563 (GRCm39) missense probably benign 0.00
R7344:Npnt UTSW 3 132,614,100 (GRCm39) splice site probably null
R8344:Npnt UTSW 3 132,614,217 (GRCm39) missense probably damaging 1.00
R8717:Npnt UTSW 3 132,614,136 (GRCm39) missense probably damaging 1.00
R8873:Npnt UTSW 3 132,655,816 (GRCm39) start gained probably benign
R8903:Npnt UTSW 3 132,591,764 (GRCm39) missense probably damaging 1.00
R9414:Npnt UTSW 3 132,612,116 (GRCm39) missense probably benign 0.00
R9420:Npnt UTSW 3 132,653,866 (GRCm39) nonsense probably null
Posted On 2012-12-06