Incidental Mutation 'IGL01478:Nsrp1'
ID88525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nsrp1
Ensembl Gene ENSMUSG00000037958
Gene Namenuclear speckle regulatory protein 1
SynonymsCcdc55, NSpr70
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01478
Quality Score
Status
Chromosome11
Chromosomal Location77044292-77078435 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 77050652 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 73 (V73I)
Ref Sequence ENSEMBL: ENSMUSP00000118119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102494] [ENSMUST00000127758]
Predicted Effect probably benign
Transcript: ENSMUST00000102494
AA Change: V77I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958
AA Change: V77I

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
Pfam:DUF2040 57 176 1.1e-40 PFAM
low complexity region 359 375 N/A INTRINSIC
low complexity region 395 413 N/A INTRINSIC
low complexity region 432 448 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104451
Predicted Effect probably benign
Transcript: ENSMUST00000127758
AA Change: V73I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118119
Gene: ENSMUSG00000037958
AA Change: V73I

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
Pfam:DUF2040 51 78 1.9e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134685
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit die prior to E6.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,934,609 T613A probably benign Het
Cdh16 G T 8: 104,614,488 probably benign Het
Epn2 A G 11: 61,523,086 S419P probably benign Het
Eral1 A T 11: 78,075,732 V234D probably damaging Het
Fhad1 T C 4: 141,951,638 K576E possibly damaging Het
Frmd4b T A 6: 97,328,293 D170V probably damaging Het
Gm4353 A G 7: 116,083,740 V202A possibly damaging Het
Ighmbp2 A G 19: 3,274,531 I245T probably benign Het
Igsf23 G A 7: 19,938,236 probably benign Het
Krt1 A G 15: 101,846,286 probably benign Het
Mapk8 A G 14: 33,383,900 V371A probably benign Het
Mtrf1 T G 14: 79,402,920 probably benign Het
Myzap A G 9: 71,515,067 probably null Het
Olfr1089 A T 2: 86,733,329 Y94* probably null Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr670 A G 7: 104,960,348 I128T probably damaging Het
Pex6 C T 17: 46,725,304 R976C probably benign Het
Ranbp9 G A 13: 43,414,084 T546I probably benign Het
Rfx5 T C 3: 94,958,440 V350A possibly damaging Het
Rnf19b A G 4: 129,058,830 E187G probably damaging Het
Sbf1 A G 15: 89,299,743 V1217A probably damaging Het
Sfmbt1 T A 14: 30,811,521 D618E probably damaging Het
Sipa1l1 A G 12: 82,446,898 E1697G probably benign Het
Syk A G 13: 52,624,748 Y290C probably benign Het
Trim69 T C 2: 122,178,443 L328P probably damaging Het
Unc5c T A 3: 141,828,451 I911N probably damaging Het
Wdr5 T C 2: 27,533,832 V294A probably damaging Het
Other mutations in Nsrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Nsrp1 APN 11 77046195 nonsense probably null
R0413:Nsrp1 UTSW 11 77046171 missense probably benign
R0959:Nsrp1 UTSW 11 77046459 nonsense probably null
R1187:Nsrp1 UTSW 11 77046027 missense probably benign 0.04
R1375:Nsrp1 UTSW 11 77050717 splice site probably benign
R1513:Nsrp1 UTSW 11 77046619 missense probably benign 0.01
R1969:Nsrp1 UTSW 11 77045786 missense probably damaging 0.98
R2113:Nsrp1 UTSW 11 77046570 missense probably benign 0.22
R2135:Nsrp1 UTSW 11 77055008 splice site probably benign
R2217:Nsrp1 UTSW 11 77045761 nonsense probably null
R2218:Nsrp1 UTSW 11 77045761 nonsense probably null
R4751:Nsrp1 UTSW 11 77076719 missense possibly damaging 0.69
R4831:Nsrp1 UTSW 11 77050618 missense probably benign 0.00
R4938:Nsrp1 UTSW 11 77045744 missense probably damaging 1.00
R5319:Nsrp1 UTSW 11 77049467 missense probably damaging 0.99
R6286:Nsrp1 UTSW 11 77049443 missense probably damaging 0.99
R7221:Nsrp1 UTSW 11 77048423 missense probably damaging 1.00
R7751:Nsrp1 UTSW 11 77049271 critical splice donor site probably null
R8005:Nsrp1 UTSW 11 77045786 missense probably damaging 0.98
R8119:Nsrp1 UTSW 11 77048351 critical splice donor site probably null
X0022:Nsrp1 UTSW 11 77046269 missense probably benign 0.02
Z1176:Nsrp1 UTSW 11 77050695 missense probably damaging 1.00
Posted On2013-11-18