Incidental Mutation 'IGL02342:Crnkl1'
ID 289166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crnkl1
Ensembl Gene ENSMUSG00000001767
Gene Name crooked neck pre-mRNA splicing factor 1
Synonyms crn, 5730590A01Rik, 1200013P10Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL02342
Quality Score
Status
Chromosome 2
Chromosomal Location 145759402-145776620 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 145766633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001818] [ENSMUST00000001818]
AlphaFold P63154
Predicted Effect probably null
Transcript: ENSMUST00000001818
SMART Domains Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767

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 null
Transcript: ENSMUST00000001818
SMART Domains Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik C A 10: 43,050,997 (GRCm39) P97Q probably damaging Het
Abcb10 A T 8: 124,688,773 (GRCm39) V501E probably damaging Het
Acsf3 T C 8: 123,544,237 (GRCm39) Y572H probably benign Het
Adamts3 A T 5: 89,839,332 (GRCm39) probably null Het
Alox8 A G 11: 69,077,053 (GRCm39) L480P probably damaging Het
Arhgap35 G A 7: 16,296,305 (GRCm39) T920I probably benign Het
Brca2 C A 5: 150,466,289 (GRCm39) L2018M possibly damaging Het
Brdt C A 5: 107,490,069 (GRCm39) H45N probably damaging Het
C1s2 A G 6: 124,609,075 (GRCm39) F155L probably damaging Het
Ccser2 A G 14: 36,640,562 (GRCm39) probably benign Het
Cd8a T A 6: 71,350,723 (GRCm39) C63S probably damaging Het
Clk2 A T 3: 89,082,998 (GRCm39) T424S probably benign Het
Cntn1 A G 15: 92,143,898 (GRCm39) E287G probably benign Het
Cobl A C 11: 12,203,672 (GRCm39) V928G possibly damaging Het
Col12a1 A G 9: 79,557,178 (GRCm39) probably null Het
Defb26 T C 2: 152,350,121 (GRCm39) N53S possibly damaging Het
Duox1 A T 2: 122,177,793 (GRCm39) T1526S probably damaging Het
Dync2h1 A G 9: 7,142,246 (GRCm39) L1233P probably damaging Het
Eif5a2 A G 3: 28,847,910 (GRCm39) E116G possibly damaging Het
Garin1b A G 6: 29,323,829 (GRCm39) T185A possibly damaging Het
Gdap2 G A 3: 100,085,632 (GRCm39) A185T probably damaging Het
Grm8 T C 6: 27,363,803 (GRCm39) R571G probably benign Het
Hjv G A 3: 96,435,488 (GRCm39) D249N possibly damaging Het
Hsp90b1 T C 10: 86,531,603 (GRCm39) probably null Het
Ift70a1 G T 2: 75,810,976 (GRCm39) T369K probably benign Het
Ighv1-75 T G 12: 115,797,878 (GRCm39) probably benign Het
Ikzf1 A G 11: 11,650,216 (GRCm39) probably benign Het
Itprid2 A G 2: 79,490,629 (GRCm39) N943S probably benign Het
Kdm4d A G 9: 14,374,860 (GRCm39) W333R probably damaging Het
Lama3 A T 18: 12,624,533 (GRCm39) N1426I probably damaging Het
Lmbrd1 A G 1: 24,743,959 (GRCm39) Y119C probably damaging Het
Mctp1 A G 13: 77,172,976 (GRCm39) Y884C probably damaging Het
Naip6 G T 13: 100,439,748 (GRCm39) P340T possibly damaging Het
Nfkbib G T 7: 28,461,528 (GRCm39) H70N probably damaging Het
Nol4 A T 18: 22,903,926 (GRCm39) probably benign Het
Obscn C T 11: 58,891,914 (GRCm39) A6873T probably benign Het
Or2ag1 A G 7: 106,313,232 (GRCm39) S219P probably benign Het
Or51b4 T A 7: 103,530,587 (GRCm39) I288F probably benign Het
Or6x1 T A 9: 40,098,823 (GRCm39) N137K probably benign Het
Paqr6 A G 3: 88,273,491 (GRCm39) Y136C probably damaging Het
Pcdh18 T A 3: 49,710,493 (GRCm39) D274V probably damaging Het
Phip A G 9: 82,768,745 (GRCm39) Y1196H probably damaging Het
Prc1 T C 7: 79,959,190 (GRCm39) L345S probably damaging Het
Smpdl3a A G 10: 57,685,276 (GRCm39) probably benign Het
Tac1 G T 6: 7,559,119 (GRCm39) probably null Het
Tasor T A 14: 27,198,624 (GRCm39) S1319T possibly damaging Het
Tg A G 15: 66,636,140 (GRCm39) T576A probably benign Het
Thbs2 A T 17: 14,896,578 (GRCm39) D770E probably damaging Het
Tmem117 T C 15: 94,909,331 (GRCm39) V248A possibly damaging Het
Trpm8 T C 1: 88,255,972 (GRCm39) I209T possibly damaging Het
Wrap53 A G 11: 69,454,417 (GRCm39) F244L probably damaging Het
Wrap73 A T 4: 154,233,237 (GRCm39) Q137L probably benign Het
Zfhx4 A T 3: 5,467,434 (GRCm39) T2531S probably benign Het
Other mutations in Crnkl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Crnkl1 APN 2 145,760,388 (GRCm39) missense possibly damaging 0.75
IGL01092:Crnkl1 APN 2 145,761,868 (GRCm39) missense probably benign 0.00
IGL01643:Crnkl1 APN 2 145,773,268 (GRCm39) missense probably damaging 0.99
IGL01902:Crnkl1 APN 2 145,766,632 (GRCm39) splice site probably null
IGL01908:Crnkl1 APN 2 145,770,075 (GRCm39) missense probably benign 0.01
IGL01934:Crnkl1 APN 2 145,773,202 (GRCm39) missense probably benign 0.02
IGL01947:Crnkl1 APN 2 145,763,744 (GRCm39) missense probably benign 0.05
IGL02721:Crnkl1 APN 2 145,765,801 (GRCm39) missense possibly damaging 0.90
IGL02794:Crnkl1 APN 2 145,772,532 (GRCm39) missense possibly damaging 0.55
IGL02877:Crnkl1 APN 2 145,762,591 (GRCm39) nonsense probably null
IGL03131:Crnkl1 APN 2 145,774,178 (GRCm39) missense probably benign 0.02
R0326:Crnkl1 UTSW 2 145,761,875 (GRCm39) missense probably benign
R1462:Crnkl1 UTSW 2 145,763,739 (GRCm39) missense probably damaging 0.97
R1462:Crnkl1 UTSW 2 145,763,739 (GRCm39) missense probably damaging 0.97
R1471:Crnkl1 UTSW 2 145,774,236 (GRCm39) missense possibly damaging 0.69
R1951:Crnkl1 UTSW 2 145,770,120 (GRCm39) missense probably damaging 0.98
R1952:Crnkl1 UTSW 2 145,770,120 (GRCm39) missense probably damaging 0.98
R1953:Crnkl1 UTSW 2 145,770,120 (GRCm39) missense probably damaging 0.98
R2112:Crnkl1 UTSW 2 145,772,617 (GRCm39) nonsense probably null
R2405:Crnkl1 UTSW 2 145,770,077 (GRCm39) nonsense probably null
R2972:Crnkl1 UTSW 2 145,774,181 (GRCm39) missense probably benign 0.07
R2973:Crnkl1 UTSW 2 145,774,181 (GRCm39) missense probably benign 0.07
R2974:Crnkl1 UTSW 2 145,774,181 (GRCm39) missense probably benign 0.07
R3801:Crnkl1 UTSW 2 145,761,715 (GRCm39) missense probably benign
R3811:Crnkl1 UTSW 2 145,773,226 (GRCm39) missense probably damaging 1.00
R4037:Crnkl1 UTSW 2 145,774,247 (GRCm39) missense possibly damaging 0.82
R4038:Crnkl1 UTSW 2 145,774,247 (GRCm39) missense possibly damaging 0.82
R4039:Crnkl1 UTSW 2 145,774,247 (GRCm39) missense possibly damaging 0.82
R4976:Crnkl1 UTSW 2 145,765,796 (GRCm39) missense possibly damaging 0.86
R5396:Crnkl1 UTSW 2 145,770,132 (GRCm39) missense possibly damaging 0.74
R5868:Crnkl1 UTSW 2 145,760,473 (GRCm39) missense probably benign 0.11
R6245:Crnkl1 UTSW 2 145,770,051 (GRCm39) missense probably benign 0.03
R6564:Crnkl1 UTSW 2 145,770,165 (GRCm39) missense possibly damaging 0.67
R7772:Crnkl1 UTSW 2 145,772,564 (GRCm39) missense probably benign 0.17
R7787:Crnkl1 UTSW 2 145,767,515 (GRCm39) missense probably benign 0.05
R7829:Crnkl1 UTSW 2 145,773,269 (GRCm39) missense probably benign 0.20
R8022:Crnkl1 UTSW 2 145,760,486 (GRCm39) missense probably damaging 0.99
R8045:Crnkl1 UTSW 2 145,774,851 (GRCm39) missense probably damaging 1.00
R8805:Crnkl1 UTSW 2 145,773,350 (GRCm39) critical splice acceptor site probably null
R9211:Crnkl1 UTSW 2 145,774,773 (GRCm39) missense probably damaging 0.99
R9256:Crnkl1 UTSW 2 145,770,216 (GRCm39) missense possibly damaging 0.68
R9274:Crnkl1 UTSW 2 145,765,836 (GRCm39) missense probably damaging 1.00
R9525:Crnkl1 UTSW 2 145,770,198 (GRCm39) missense probably benign 0.02
R9547:Crnkl1 UTSW 2 145,772,550 (GRCm39) missense possibly damaging 0.71
R9678:Crnkl1 UTSW 2 145,761,875 (GRCm39) missense probably benign
Posted On 2015-04-16