Incidental Mutation 'R9592:Nsrp1'
ID 723053
Institutional Source Beutler Lab
Gene Symbol Nsrp1
Ensembl Gene ENSMUSG00000037958
Gene Name nuclear speckle regulatory protein 1
Synonyms Ccdc55, NSpr70
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9592 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 76935118-76969261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76940104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 167 (L167Q)
Ref Sequence ENSEMBL: ENSMUSP00000099552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102494] [ENSMUST00000127758]
AlphaFold Q5NCR9
Predicted Effect probably damaging
Transcript: ENSMUST00000102494
AA Change: L167Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958
AA Change: L167Q

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt G T 9: 4,309,312 (GRCm39) P42Q probably benign Het
Adat1 G T 8: 112,709,314 (GRCm39) P170T probably benign Het
Ap4e1 A G 2: 126,903,588 (GRCm39) D830G probably benign Het
Apc T A 18: 34,443,823 (GRCm39) C605* probably null Het
Atp2b4 A G 1: 133,659,568 (GRCm39) S465P probably damaging Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cdhr3 A G 12: 33,136,007 (GRCm39) S78P possibly damaging Het
Ckap4 G A 10: 84,364,175 (GRCm39) T296M probably damaging Het
Cyp11a1 G A 9: 57,925,605 (GRCm39) R182H possibly damaging Het
Fem1b A T 9: 62,704,959 (GRCm39) H100Q probably damaging Het
Gm5464 T A 14: 67,106,366 (GRCm39) M1K probably null Het
Igkv12-41 G A 6: 69,835,579 (GRCm39) Q58* probably null Het
Kcnq2 T C 2: 180,728,813 (GRCm39) Y572C probably damaging Het
Krt87 T C 15: 101,386,060 (GRCm39) T234A probably benign Het
Ksr2 G A 5: 117,894,344 (GRCm39) G828S probably damaging Het
Megf8 C T 7: 25,028,228 (GRCm39) T264M probably benign Het
Myof A T 19: 38,031,737 (GRCm39) I12N probably damaging Het
Nsd1 T G 13: 55,424,355 (GRCm39) D1467E probably damaging Het
Nsun4 A T 4: 115,908,852 (GRCm39) H569Q possibly damaging Het
Or51q1 T C 7: 103,629,179 (GRCm39) V260A possibly damaging Het
Or5b105 A G 19: 13,079,906 (GRCm39) I254T probably benign Het
Pcdha7 A T 18: 37,109,045 (GRCm39) D690V probably benign Het
Pcdhb2 G A 18: 37,429,266 (GRCm39) R56Q probably damaging Het
Pcsk5 G T 19: 17,652,899 (GRCm39) Y262* probably null Het
Pdzd2 G C 15: 12,458,106 (GRCm39) N78K probably damaging Het
Pglyrp3 T C 3: 91,938,859 (GRCm39) F345L probably benign Het
Pnp2 T A 14: 51,196,979 (GRCm39) Y22N probably damaging Het
Pnp2 C A 14: 51,196,981 (GRCm39) Y22* probably null Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Rmdn1 T C 4: 19,599,660 (GRCm39) M206T possibly damaging Het
Rnf166 A T 8: 123,197,048 (GRCm39) L68Q probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Scin C T 12: 40,131,746 (GRCm39) V263I probably benign Het
Secisbp2l C A 2: 125,582,561 (GRCm39) R965L probably damaging Het
Senp2 G A 16: 21,845,435 (GRCm39) R223Q possibly damaging Het
Siglecf C A 7: 43,001,696 (GRCm39) P169T probably damaging Het
Smpdl3b G A 4: 132,484,438 (GRCm39) probably benign Het
Syt2 G A 1: 134,671,773 (GRCm39) V184I possibly damaging Het
Tecta G T 9: 42,250,238 (GRCm39) N1851K probably damaging Het
Thbs2 A T 17: 14,899,083 (GRCm39) S672R probably damaging Het
Tmtc4 T C 14: 123,170,815 (GRCm39) H485R probably damaging Het
Tns1 A T 1: 74,029,553 (GRCm39) S307R probably damaging Het
Usp15 C A 10: 122,999,522 (GRCm39) W220L probably damaging Het
Zfp64 A T 2: 168,768,118 (GRCm39) V498E probably damaging Het
Zfp820 G T 17: 22,038,577 (GRCm39) S250R probably benign Het
Zfr2 A T 10: 81,069,580 (GRCm39) N2I unknown 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
R4831:Nsrp1 UTSW 11 76,941,444 (GRCm39) missense probably benign 0.00
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
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 PCR Primer
(F):5'- CGAGAGCACTAAATTCAATGGG -3'
(R):5'- TTACTAAAAGCAGTCGAGATCAGG -3'

Sequencing Primer
(F):5'- TCTGGCAAATGTAATGTTATGGC -3'
(R):5'- CAGTCGAGATCAGGAAAAAGGAGC -3'
Posted On 2022-08-09