Incidental Mutation 'IGL01092:Crnkl1'
ID50477
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 #IGL01092
Quality Score
Status
Chromosome2
Chromosomal Location145917479-145935014 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 145919948 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 563 (K563R)
Ref Sequence ENSEMBL: ENSMUSP00000001818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001818] [ENSMUST00000002805] [ENSMUST00000110000] [ENSMUST00000149461] [ENSMUST00000165635] [ENSMUST00000169732]
Predicted Effect probably benign
Transcript: ENSMUST00000001818
AA Change: K563R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: K563R

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
Predicted Effect probably benign
Transcript: ENSMUST00000149461
SMART Domains Protein: ENSMUSP00000127918
Gene: ENSMUSG00000002728

DomainStartEndE-ValueType
SCOP:d1cjwa_ 3 73 5e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165635
Predicted Effect probably benign
Transcript: ENSMUST00000169732
SMART Domains Protein: ENSMUSP00000132857
Gene: ENSMUSG00000002728

DomainStartEndE-ValueType
Pfam:Acetyltransf_1 40 112 2.2e-9 PFAM
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,529,946 R335G probably damaging Het
Atad2b C T 12: 5,017,987 S995L probably damaging Het
Atrn A T 2: 130,947,636 R340* probably null Het
Ccdc83 A T 7: 90,247,105 D85E probably benign Het
Chd2 A T 7: 73,441,686 H1602Q possibly damaging Het
Cog2 A G 8: 124,545,280 D511G probably damaging Het
Col4a4 G T 1: 82,466,545 P1334T unknown Het
Creb3l4 T C 3: 90,237,738 E369G probably damaging Het
Dbi T C 1: 120,113,477 K131E probably benign Het
Edn1 A G 13: 42,303,671 D60G probably damaging Het
Erbin T C 13: 103,834,012 N1032S probably damaging Het
Ero1l T C 14: 45,303,586 D107G probably benign Het
Glmn A T 5: 107,578,512 probably null Het
Grxcr1 T C 5: 68,110,562 probably benign Het
Itih3 T A 14: 30,909,781 K593I probably damaging Het
Kmt2b T C 7: 30,580,507 Y1356C probably damaging Het
Lrp1b C T 2: 40,750,947 C3495Y probably damaging Het
Map3k13 A T 16: 21,928,016 T950S probably damaging Het
Me1 A T 9: 86,598,748 V348D probably damaging Het
Morc2a T C 11: 3,684,042 V718A probably benign Het
Myh7 T C 14: 54,971,632 E1883G possibly damaging Het
Olfr1338 T A 4: 118,753,762 I259F possibly damaging Het
Olfr913 T G 9: 38,594,905 I228R probably damaging Het
Pdcd6ip A G 9: 113,680,181 probably benign Het
Plcb3 T A 19: 6,955,322 E1025V probably benign Het
Ppp1r26 C T 2: 28,453,860 probably benign Het
Prkd1 T C 12: 50,383,515 probably benign Het
Rwdd4a C T 8: 47,544,112 T122M possibly damaging Het
Sdhb T G 4: 140,977,480 C251G probably damaging Het
Siglec1 A T 2: 131,079,217 I678N probably damaging Het
Snrnp70 T C 7: 45,377,377 D215G probably damaging Het
Ston1 A G 17: 88,644,443 E674G probably benign Het
Tbl3 A T 17: 24,705,252 I177N probably damaging Het
Tbl3 T C 17: 24,701,905 probably benign Het
Tnrc6c T C 11: 117,721,985 V483A probably damaging Het
Other mutations in Crnkl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Crnkl1 APN 2 145918468 missense possibly damaging 0.75
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
IGL02877:Crnkl1 APN 2 145920671 nonsense probably null
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 On2013-06-21