Incidental Mutation 'R4831:Nsrp1'
ID 372827
Institutional Source Beutler Lab
Gene Symbol Nsrp1
Ensembl Gene ENSMUSG00000037958
Gene Name nuclear speckle regulatory protein 1
Synonyms Ccdc55, NSpr70
MMRRC Submission 042447-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4831 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 76935118-76969261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76941444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 88 (N88S)
Ref Sequence ENSEMBL: ENSMUSP00000099552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102494] [ENSMUST00000127758]
AlphaFold Q5NCR9
Predicted Effect probably benign
Transcript: ENSMUST00000102494
AA Change: N88S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958
AA Change: N88S

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
SMART Domains Protein: ENSMUSP00000118119
Gene: ENSMUSG00000037958

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 99% (96/97)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik C T 11: 69,791,403 (GRCm39) V59I possibly damaging Het
4930544M13Rik T G 13: 114,744,183 (GRCm39) noncoding transcript Het
Abca13 A T 11: 9,492,077 (GRCm39) K4373* probably null Het
Abtb2 A T 2: 103,513,820 (GRCm39) T410S probably benign Het
Adamts13 T C 2: 26,873,142 (GRCm39) probably null Het
Ahnak2 C G 12: 112,742,183 (GRCm39) D630H probably damaging Het
Aox3 T C 1: 58,191,725 (GRCm39) S426P probably damaging Het
Atxn10 C T 15: 85,271,260 (GRCm39) S266F probably benign Het
B4galnt4 G T 7: 140,647,634 (GRCm39) M407I probably damaging Het
B4galnt4 T A 7: 140,644,470 (GRCm39) probably null Het
Bclaf1 T A 10: 20,197,872 (GRCm39) probably benign Het
C4b C T 17: 34,955,864 (GRCm39) probably null Het
Cdc42bpg T C 19: 6,361,365 (GRCm39) F297S probably damaging Het
Cdh10 A T 15: 19,013,664 (GRCm39) T755S probably benign Het
Ceacam12 T A 7: 17,811,305 (GRCm39) probably null Het
Cfap65 C A 1: 74,956,454 (GRCm39) V1042F possibly damaging Het
Cfap77 T C 2: 28,875,844 (GRCm39) I89V probably benign Het
Cfh T C 1: 140,014,125 (GRCm39) D688G probably benign Het
Clip1 C G 5: 123,721,664 (GRCm39) A1182P probably damaging Het
Cyp2b10 T A 7: 25,614,921 (GRCm39) Y309* probably null Het
Dcaf5 T C 12: 80,385,858 (GRCm39) E756G probably benign Het
Dctn1 A T 6: 83,176,753 (GRCm39) Q1231L possibly damaging Het
Dennd1c T A 17: 57,373,428 (GRCm39) R682* probably null Het
Eml6 C A 11: 29,727,052 (GRCm39) E1319* probably null Het
Erap1 T C 13: 74,838,766 (GRCm39) I904T probably damaging Het
Eri1 A T 8: 35,943,673 (GRCm39) I207N possibly damaging Het
Farp1 G A 14: 121,514,469 (GRCm39) A933T probably damaging Het
Fcna T A 2: 25,515,353 (GRCm39) Q210L probably benign Het
Fhad1 A T 4: 141,643,378 (GRCm39) probably null Het
Fut8 T G 12: 77,440,603 (GRCm39) Y197D probably damaging Het
Garem1 G A 18: 21,262,825 (GRCm39) T663I probably benign Het
Gfm2 T C 13: 97,301,546 (GRCm39) S450P probably damaging Het
Gstk1 T G 6: 42,222,938 (GRCm39) probably benign Het
Helz2 C T 2: 180,879,210 (GRCm39) A803T probably damaging Het
Igsf9 T A 1: 172,319,455 (GRCm39) I280N probably damaging Het
Klhl10 A G 11: 100,336,669 (GRCm39) K219E probably benign Het
L3mbtl4 T A 17: 68,768,558 (GRCm39) V222D probably damaging Het
Lrrc9 A T 12: 72,546,453 (GRCm39) N1214Y probably damaging Het
Ltbp2 C T 12: 84,840,414 (GRCm39) E1051K possibly damaging Het
Mettl17 T C 14: 52,122,440 (GRCm39) F13S probably benign Het
Mettl24 C A 10: 40,559,413 (GRCm39) A21D possibly damaging Het
Mfsd6l T A 11: 68,447,331 (GRCm39) C61S probably benign Het
Mob4 T G 1: 55,191,899 (GRCm39) D204E probably benign Het
Mtus1 C G 8: 41,536,189 (GRCm39) R509T probably damaging Het
Nlrp4a T A 7: 26,149,844 (GRCm39) F484I possibly damaging Het
Odad2 G T 18: 7,222,564 (GRCm39) H568Q possibly damaging Het
Or10d5 C T 9: 39,861,408 (GRCm39) V220I probably benign Het
Or2g25 T A 17: 37,970,969 (GRCm39) H85L probably benign Het
Or51b6b T C 7: 103,309,678 (GRCm39) T260A probably benign Het
Or6c2 T A 10: 129,362,449 (GRCm39) Y118N probably damaging Het
Parg A G 14: 31,924,408 (GRCm39) N69S probably benign Het
Pcdh9 A C 14: 94,125,377 (GRCm39) N264K probably damaging Het
Pcdhb22 G T 18: 37,653,615 (GRCm39) L694F probably damaging Het
Pcnt T C 10: 76,248,335 (GRCm39) E928G probably damaging Het
Pdzk1 G A 3: 96,775,751 (GRCm39) G373D probably benign Het
Pea15a A G 1: 172,026,740 (GRCm39) I89T probably damaging Het
Phc1 T A 6: 122,313,964 (GRCm39) probably benign Het
Pikfyve T A 1: 65,235,900 (GRCm39) C191S probably damaging Het
Pitpnm1 T A 19: 4,158,130 (GRCm39) D573E probably damaging Het
Pld5 A G 1: 176,102,450 (GRCm39) probably benign Het
Plscr2 A T 9: 92,173,130 (GRCm39) N89I possibly damaging Het
Pm20d2 A C 4: 33,179,293 (GRCm39) N315K probably damaging Het
Pnpla1 T A 17: 29,097,518 (GRCm39) M228K probably benign Het
Prim2 T C 1: 33,709,217 (GRCm39) probably benign Het
Ralgapa2 A G 2: 146,246,987 (GRCm39) probably benign Het
Rgs22 G T 15: 36,050,294 (GRCm39) H719N probably benign Het
Ror2 C T 13: 53,272,880 (GRCm39) D250N probably damaging Het
Saal1 A G 7: 46,349,071 (GRCm39) V281A probably benign Het
Selenof A T 3: 144,296,411 (GRCm39) K94N probably damaging Het
Slamf9 T A 1: 172,304,831 (GRCm39) C148* probably null Het
Slc4a7 T C 14: 14,772,699 (GRCm38) probably null Het
Slco1a5 A G 6: 142,180,431 (GRCm39) I657T probably benign Het
St3gal2 A T 8: 111,684,480 (GRCm39) H46L probably benign Het
Sucnr1 T G 3: 59,994,069 (GRCm39) M199R probably damaging Het
Taok1 T A 11: 77,444,500 (GRCm39) E525V probably null Het
Tbc1d10c T A 19: 4,235,445 (GRCm39) E298V probably damaging Het
Tll2 T A 19: 41,118,951 (GRCm39) H259L probably damaging Het
Tpcn1 A T 5: 120,691,554 (GRCm39) F300Y probably damaging Het
Uba6 T A 5: 86,279,197 (GRCm39) I642L probably benign Het
Ubqln5 T A 7: 103,778,829 (GRCm39) probably benign Het
Vmn1r27 A T 6: 58,192,827 (GRCm39) L9Q possibly damaging Het
Vmn2r100 C T 17: 19,741,672 (GRCm39) T128I probably benign Het
Vmn2r109 C T 17: 20,761,494 (GRCm39) G621D probably benign Het
Vmn2r49 C T 7: 9,720,352 (GRCm39) D380N probably benign Het
Vps13a C T 19: 16,655,356 (GRCm39) V1891I probably benign Het
Wbp2 G T 11: 115,971,463 (GRCm39) Y147* probably null Het
Wdr46 T A 17: 34,160,810 (GRCm39) N191K probably benign Het
Wdr46 T C 17: 34,168,373 (GRCm39) probably benign Het
Wnt2 A C 6: 18,023,285 (GRCm39) F121L probably benign Het
Xpnpep1 T A 19: 53,003,053 (GRCm39) D100V probably benign Het
Xpo4 T C 14: 57,827,559 (GRCm39) Y879C probably damaging Het
Zswim4 A T 8: 84,938,948 (GRCm39) V978D probably damaging Het
Other mutations in Nsrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Nsrp1 APN 11 76,937,021 (GRCm39) nonsense probably null
IGL01478:Nsrp1 APN 11 76,941,478 (GRCm39) missense probably benign 0.00
R0413:Nsrp1 UTSW 11 76,936,997 (GRCm39) missense probably benign
R0959:Nsrp1 UTSW 11 76,937,285 (GRCm39) nonsense probably null
R1187:Nsrp1 UTSW 11 76,936,853 (GRCm39) missense probably benign 0.04
R1375:Nsrp1 UTSW 11 76,941,543 (GRCm39) splice site probably benign
R1513:Nsrp1 UTSW 11 76,937,445 (GRCm39) missense probably benign 0.01
R1969:Nsrp1 UTSW 11 76,936,612 (GRCm39) missense probably damaging 0.98
R2113:Nsrp1 UTSW 11 76,937,396 (GRCm39) missense probably benign 0.22
R2135:Nsrp1 UTSW 11 76,945,834 (GRCm39) splice site probably benign
R2217:Nsrp1 UTSW 11 76,936,587 (GRCm39) nonsense probably null
R2218:Nsrp1 UTSW 11 76,936,587 (GRCm39) nonsense probably null
R4751:Nsrp1 UTSW 11 76,967,545 (GRCm39) missense possibly damaging 0.69
R4938:Nsrp1 UTSW 11 76,936,570 (GRCm39) missense probably damaging 1.00
R5319:Nsrp1 UTSW 11 76,940,293 (GRCm39) missense probably damaging 0.99
R6286:Nsrp1 UTSW 11 76,940,269 (GRCm39) missense probably damaging 0.99
R7221:Nsrp1 UTSW 11 76,939,249 (GRCm39) missense probably damaging 1.00
R7751:Nsrp1 UTSW 11 76,940,097 (GRCm39) critical splice donor site probably null
R8005:Nsrp1 UTSW 11 76,936,612 (GRCm39) missense probably damaging 0.98
R8119:Nsrp1 UTSW 11 76,939,177 (GRCm39) critical splice donor site probably null
R9042:Nsrp1 UTSW 11 76,941,477 (GRCm39) missense probably benign 0.42
R9233:Nsrp1 UTSW 11 76,937,036 (GRCm39) missense probably benign
R9248:Nsrp1 UTSW 11 76,937,036 (GRCm39) missense probably benign
R9487:Nsrp1 UTSW 11 76,937,114 (GRCm39) nonsense probably null
R9592:Nsrp1 UTSW 11 76,940,104 (GRCm39) missense probably damaging 1.00
R9710:Nsrp1 UTSW 11 76,967,503 (GRCm39) missense probably damaging 0.97
X0022:Nsrp1 UTSW 11 76,937,095 (GRCm39) missense probably benign 0.02
Z1176:Nsrp1 UTSW 11 76,941,521 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2016-03-01