Incidental Mutation 'IGL02558:Csrnp3'
ID 298393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csrnp3
Ensembl Gene ENSMUSG00000044647
Gene Name cysteine-serine-rich nuclear protein 3
Synonyms mbu1, CSRNP-3, A330102K23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # IGL02558
Quality Score
Status
Chromosome 2
Chromosomal Location 65676111-65861890 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65852573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 322 (E322K)
Ref Sequence ENSEMBL: ENSMUSP00000135019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053910] [ENSMUST00000112394] [ENSMUST00000112397] [ENSMUST00000122912] [ENSMUST00000145598] [ENSMUST00000176109]
AlphaFold P59055
Predicted Effect probably benign
Transcript: ENSMUST00000053910
AA Change: E334K

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000055719
Gene: ENSMUSG00000044647
AA Change: E334K

DomainStartEndE-ValueType
low complexity region 31 52 N/A INTRINSIC
low complexity region 123 140 N/A INTRINSIC
low complexity region 161 176 N/A INTRINSIC
Blast:CXC 221 268 3e-15 BLAST
low complexity region 342 359 N/A INTRINSIC
low complexity region 377 400 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112394
AA Change: E322K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108013
Gene: ENSMUSG00000044647
AA Change: E322K

DomainStartEndE-ValueType
low complexity region 19 40 N/A INTRINSIC
low complexity region 111 128 N/A INTRINSIC
low complexity region 149 164 N/A INTRINSIC
Blast:CXC 209 256 3e-15 BLAST
low complexity region 330 347 N/A INTRINSIC
low complexity region 365 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112397
SMART Domains Protein: ENSMUSP00000135151
Gene: ENSMUSG00000044647

DomainStartEndE-ValueType
low complexity region 31 52 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122912
AA Change: E334K

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117533
Gene: ENSMUSG00000044647
AA Change: E334K

DomainStartEndE-ValueType
low complexity region 31 52 N/A INTRINSIC
Pfam:CSRNP_N 70 291 5e-107 PFAM
low complexity region 342 359 N/A INTRINSIC
low complexity region 377 400 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000145598
AA Change: E322K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135605
Gene: ENSMUSG00000044647
AA Change: E322K

DomainStartEndE-ValueType
low complexity region 19 40 N/A INTRINSIC
low complexity region 111 128 N/A INTRINSIC
low complexity region 149 164 N/A INTRINSIC
Blast:CXC 209 256 3e-15 BLAST
low complexity region 330 347 N/A INTRINSIC
low complexity region 365 388 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176109
AA Change: E322K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135019
Gene: ENSMUSG00000044647
AA Change: E322K

DomainStartEndE-ValueType
low complexity region 19 40 N/A INTRINSIC
low complexity region 111 128 N/A INTRINSIC
low complexity region 149 164 N/A INTRINSIC
Blast:CXC 209 256 3e-15 BLAST
low complexity region 330 347 N/A INTRINSIC
low complexity region 365 388 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal development, hematopoiesis and T cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A C 5: 3,632,194 (GRCm39) *25C probably null Het
Abca13 T C 11: 9,349,387 (GRCm39) Y3654H probably damaging Het
Ankle1 T C 8: 71,861,636 (GRCm39) F438S probably damaging Het
Atp10a A T 7: 58,469,390 (GRCm39) R1080S probably damaging Het
Ccdc51 A T 9: 108,921,252 (GRCm39) N380Y probably damaging Het
Ccr8 A T 9: 119,923,724 (GRCm39) I280F probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cep162 T C 9: 87,107,786 (GRCm39) T535A probably benign Het
Cep162 G T 9: 87,107,779 (GRCm39) T537N probably benign Het
Cfap52 T C 11: 67,844,964 (GRCm39) D35G probably benign Het
Cmip G A 8: 118,175,827 (GRCm39) S530N probably damaging Het
Col9a3 A T 2: 180,248,599 (GRCm39) probably null Het
Csf3r T C 4: 125,931,928 (GRCm39) probably benign Het
Csk C T 9: 57,537,546 (GRCm39) E123K probably benign Het
Ddx11 A T 17: 66,455,667 (GRCm39) I663F probably damaging Het
Dnah1 T A 14: 30,996,336 (GRCm39) M2667L possibly damaging Het
Foxred1 T C 9: 35,121,429 (GRCm39) K40E probably damaging Het
Gata2 C T 6: 88,176,762 (GRCm39) P74S probably benign Het
Gdf10 T G 14: 33,645,937 (GRCm39) C29G probably benign Het
Hectd4 A G 5: 121,482,848 (GRCm39) E3133G probably benign Het
Ints8 G A 4: 11,218,771 (GRCm39) R784W probably damaging Het
Lrriq1 T C 10: 102,982,144 (GRCm39) E1392G probably damaging Het
Muc19 T C 15: 91,781,816 (GRCm39) noncoding transcript Het
Myom2 A T 8: 15,164,237 (GRCm39) D1044V probably benign Het
Nphp4 G T 4: 152,639,988 (GRCm39) R958L probably damaging Het
Nup205 C T 6: 35,166,859 (GRCm39) P293S probably damaging Het
Or10ag60 T C 2: 87,437,903 (GRCm39) I57T probably benign Het
Or1e17 A T 11: 73,831,651 (GRCm39) H193L probably benign Het
Plxdc2 A G 2: 16,674,409 (GRCm39) probably benign Het
Pwp2 T C 10: 78,014,899 (GRCm39) S362G probably damaging Het
Siglec1 G T 2: 130,916,915 (GRCm39) S1113R possibly damaging Het
Sirpa A G 2: 129,471,989 (GRCm39) E472G probably damaging Het
Slc39a4 G T 15: 76,498,403 (GRCm39) L345M probably damaging Het
Snx27 C T 3: 94,410,188 (GRCm39) R496Q probably damaging Het
Stard9 A G 2: 120,527,388 (GRCm39) H1215R possibly damaging Het
Stau1 A G 2: 166,792,768 (GRCm39) Y371H probably benign Het
Sult2a1 A C 7: 13,566,520 (GRCm39) W152G probably benign Het
Syt16 A T 12: 74,281,832 (GRCm39) K319* probably null Het
Tcf7 T A 11: 52,144,797 (GRCm39) probably benign Het
Tfdp1 A G 8: 13,419,546 (GRCm39) N92D possibly damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Csrnp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01676:Csrnp3 APN 2 65,779,336 (GRCm39) missense probably damaging 0.99
IGL02427:Csrnp3 APN 2 65,708,380 (GRCm39) utr 5 prime probably benign
IGL02605:Csrnp3 APN 2 65,853,153 (GRCm39) missense probably damaging 1.00
Uncle UTSW 2 65,852,615 (GRCm39) missense probably benign 0.34
IGL02984:Csrnp3 UTSW 2 65,852,553 (GRCm39) missense probably benign 0.37
R0417:Csrnp3 UTSW 2 65,849,887 (GRCm39) missense probably benign 0.43
R0709:Csrnp3 UTSW 2 65,852,907 (GRCm39) missense probably damaging 0.99
R1340:Csrnp3 UTSW 2 65,832,740 (GRCm39) missense probably damaging 1.00
R1712:Csrnp3 UTSW 2 65,832,826 (GRCm39) missense probably damaging 1.00
R1960:Csrnp3 UTSW 2 65,853,363 (GRCm39) missense probably null 1.00
R1997:Csrnp3 UTSW 2 65,779,446 (GRCm39) missense probably damaging 1.00
R4839:Csrnp3 UTSW 2 65,852,375 (GRCm39) nonsense probably null
R5233:Csrnp3 UTSW 2 65,852,684 (GRCm39) missense possibly damaging 0.95
R5340:Csrnp3 UTSW 2 65,852,781 (GRCm39) missense probably benign 0.00
R6157:Csrnp3 UTSW 2 65,779,363 (GRCm39) missense probably damaging 1.00
R6781:Csrnp3 UTSW 2 65,852,615 (GRCm39) missense probably benign 0.34
R6974:Csrnp3 UTSW 2 65,779,408 (GRCm39) missense possibly damaging 0.59
R7120:Csrnp3 UTSW 2 65,853,354 (GRCm39) missense probably damaging 1.00
R7293:Csrnp3 UTSW 2 65,779,344 (GRCm39) missense probably damaging 1.00
R8250:Csrnp3 UTSW 2 65,852,562 (GRCm39) missense probably damaging 0.99
R8478:Csrnp3 UTSW 2 65,708,400 (GRCm39) splice site probably null
R8899:Csrnp3 UTSW 2 65,852,987 (GRCm39) missense possibly damaging 0.71
R9396:Csrnp3 UTSW 2 65,832,841 (GRCm39) missense probably damaging 1.00
R9477:Csrnp3 UTSW 2 65,852,819 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16