Incidental Mutation 'IGL02877:Crnkl1'
ID362674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crnkl1
Ensembl Gene ENSMUSG00000001767
Gene Namecrooked neck pre-mRNA splicing factor 1
Synonyms5730590A01Rik, crn, 1200013P10Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock #IGL02877
Quality Score
Status
Chromosome2
Chromosomal Location145917479-145935014 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 145920671 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 525 (E525*)
Ref Sequence ENSEMBL: ENSMUSP00000001818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001818] [ENSMUST00000002805] [ENSMUST00000110000]
Predicted Effect probably null
Transcript: ENSMUST00000001818
AA Change: E525*
SMART Domains Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: E525*

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
low complexity region 30 52 N/A INTRINSIC
HAT 61 93 4.57e-2 SMART
HAT 95 127 3.48e-7 SMART
HAT 129 161 3.33e-4 SMART
HAT 163 194 2.48e-3 SMART
HAT 196 227 1.32e-7 SMART
HAT 229 264 2.11e-6 SMART
HAT 266 300 2.07e0 SMART
Blast:HAT 310 342 1e-13 BLAST
HAT 344 378 3.88e-5 SMART
HAT 388 424 6.86e-6 SMART
HAT 426 457 1.92e2 SMART
HAT 459 491 1.29e-1 SMART
HAT 493 527 2e-7 SMART
HAT 529 560 8.07e-3 SMART
coiled coil region 566 596 N/A INTRINSIC
low complexity region 655 676 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000002805
SMART Domains Protein: ENSMUSP00000002805
Gene: ENSMUSG00000002728

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 40 140 2.1e-8 PFAM
Pfam:Acetyltransf_1 48 139 4.3e-15 PFAM
Pfam:FR47 67 148 3.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110000
SMART Domains Protein: ENSMUSP00000105627
Gene: ENSMUSG00000002728

DomainStartEndE-ValueType
Pfam:Acetyltransf_10 26 128 5.9e-8 PFAM
Pfam:Acetyltransf_7 40 130 5.1e-10 PFAM
Pfam:Acetyltransf_1 48 129 8.3e-18 PFAM
Pfam:FR47 55 138 7.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129502
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,078,876 Y712* probably null Het
Adcy5 A G 16: 35,298,600 D1107G probably damaging Het
Ankhd1 C A 18: 36,594,823 T504K probably damaging Het
Asb18 C T 1: 89,952,811 C160Y possibly damaging Het
Capn13 A G 17: 73,322,055 S586P probably damaging Het
Cdhr2 A T 13: 54,734,737 T1199S probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Cnot8 A G 11: 58,111,402 E87G probably benign Het
Eif2d T C 1: 131,165,117 probably benign Het
Flywch1 A G 17: 23,760,414 S416P probably damaging Het
Glcci1 T C 6: 8,582,757 S373P probably damaging Het
Gli3 A G 13: 15,724,742 R905G probably damaging Het
Hcn4 T C 9: 58,859,167 V706A unknown Het
Ift74 T C 4: 94,624,781 probably null Het
Ighv8-6 A T 12: 115,166,080 S19T probably damaging Het
Knl1 T A 2: 119,088,831 N1821K probably benign Het
Msx1 G A 5: 37,824,000 P112S possibly damaging Het
Nes A G 3: 87,975,661 D409G probably benign Het
Nsmf A T 2: 25,055,956 I152F possibly damaging Het
Nt5c1a T A 4: 123,216,074 I322N probably damaging Het
Olfr845 T C 9: 19,339,201 V247A possibly damaging Het
Pnpla8 A G 12: 44,283,465 T49A probably benign Het
Ptx3 A G 3: 66,224,775 Y239C probably damaging Het
Rarg G T 15: 102,241,939 probably null Het
Slc33a1 G A 3: 63,943,385 T506I probably benign Het
Spem2 T G 11: 69,817,695 H148P probably benign Het
Trim24 A G 6: 37,965,646 D961G probably damaging Het
Vmn2r14 G A 5: 109,220,188 H313Y probably damaging Het
Other mutations in Crnkl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Crnkl1 APN 2 145918468 missense possibly damaging 0.75
IGL01092:Crnkl1 APN 2 145919948 missense probably benign 0.00
IGL01643:Crnkl1 APN 2 145931348 missense probably damaging 0.99
IGL01902:Crnkl1 APN 2 145924712 splice site probably null
IGL01908:Crnkl1 APN 2 145928155 missense probably benign 0.01
IGL01934:Crnkl1 APN 2 145931282 missense probably benign 0.02
IGL01947:Crnkl1 APN 2 145921824 missense probably benign 0.05
IGL02342:Crnkl1 APN 2 145924713 critical splice donor site probably null
IGL02721:Crnkl1 APN 2 145923881 missense possibly damaging 0.90
IGL02794:Crnkl1 APN 2 145930612 missense possibly damaging 0.55
IGL03131:Crnkl1 APN 2 145932258 missense probably benign 0.02
R0326:Crnkl1 UTSW 2 145919955 missense probably benign
R1462:Crnkl1 UTSW 2 145921819 missense probably damaging 0.97
R1462:Crnkl1 UTSW 2 145921819 missense probably damaging 0.97
R1471:Crnkl1 UTSW 2 145932316 missense possibly damaging 0.69
R1951:Crnkl1 UTSW 2 145928200 missense probably damaging 0.98
R1952:Crnkl1 UTSW 2 145928200 missense probably damaging 0.98
R1953:Crnkl1 UTSW 2 145928200 missense probably damaging 0.98
R2112:Crnkl1 UTSW 2 145930697 nonsense probably null
R2405:Crnkl1 UTSW 2 145928157 nonsense probably null
R2972:Crnkl1 UTSW 2 145932261 missense probably benign 0.07
R2973:Crnkl1 UTSW 2 145932261 missense probably benign 0.07
R2974:Crnkl1 UTSW 2 145932261 missense probably benign 0.07
R3801:Crnkl1 UTSW 2 145919795 missense probably benign
R3811:Crnkl1 UTSW 2 145931306 missense probably damaging 1.00
R4037:Crnkl1 UTSW 2 145932327 missense possibly damaging 0.82
R4038:Crnkl1 UTSW 2 145932327 missense possibly damaging 0.82
R4039:Crnkl1 UTSW 2 145932327 missense possibly damaging 0.82
R4976:Crnkl1 UTSW 2 145923876 missense possibly damaging 0.86
R5396:Crnkl1 UTSW 2 145928212 missense possibly damaging 0.74
R5868:Crnkl1 UTSW 2 145918553 missense probably benign 0.11
R6245:Crnkl1 UTSW 2 145928131 missense probably benign 0.03
R6564:Crnkl1 UTSW 2 145928245 missense possibly damaging 0.67
R7772:Crnkl1 UTSW 2 145930644 missense probably benign 0.17
R7787:Crnkl1 UTSW 2 145925595 missense probably benign 0.05
R7829:Crnkl1 UTSW 2 145931349 missense probably benign 0.20
R8022:Crnkl1 UTSW 2 145918566 missense probably damaging 0.99
R8045:Crnkl1 UTSW 2 145932931 missense probably damaging 1.00
Posted On2015-12-18