Incidental Mutation 'R3801:Crnkl1'
ID 272960
Institutional Source Beutler Lab
Gene Symbol Crnkl1
Ensembl Gene ENSMUSG00000001767
Gene Name crooked neck pre-mRNA splicing factor 1
Synonyms crn, 5730590A01Rik, 1200013P10Rik
MMRRC Submission 040760-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R3801 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 145759402-145776620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 145761715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 614 (D614G)
Ref Sequence ENSEMBL: ENSMUSP00000001818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001818] [ENSMUST00000002805] [ENSMUST00000110000] [ENSMUST00000149461] [ENSMUST00000165635] [ENSMUST00000169732]
AlphaFold P63154
Predicted Effect probably benign
Transcript: ENSMUST00000001818
AA Change: D614G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: D614G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik C T 8: 79,974,922 (GRCm39) E54K probably benign Het
Als2 A C 1: 59,206,358 (GRCm39) M1634R probably damaging Het
Ankfy1 T C 11: 72,640,246 (GRCm39) S531P probably benign Het
Atp6v1e1 A G 6: 120,778,020 (GRCm39) Y172H probably benign Het
Brd1 C T 15: 88,601,243 (GRCm39) V464M probably damaging Het
Btaf1 A T 19: 36,963,948 (GRCm39) T840S probably benign Het
Btaf1 A T 19: 36,966,373 (GRCm39) H1047L probably benign Het
Cacnb2 A G 2: 14,829,074 (GRCm39) D3G possibly damaging Het
Capn13 G A 17: 73,646,396 (GRCm39) P339L probably benign Het
Cgrrf1 G T 14: 47,069,820 (GRCm39) G30C probably damaging Het
Cyp2c23 C T 19: 43,995,478 (GRCm39) V430I probably benign Het
Dazl G A 17: 50,588,309 (GRCm39) R289W probably benign Het
Dsg1b C T 18: 20,523,260 (GRCm39) P96S probably damaging Het
Dusp14 A G 11: 83,939,535 (GRCm39) S169P possibly damaging Het
Egfem1 A G 3: 29,206,075 (GRCm39) D91G probably benign Het
Eif1 A G 11: 100,211,650 (GRCm39) K95E probably damaging Het
Fap C T 2: 62,376,994 (GRCm39) V191I probably benign Het
Flnc T C 6: 29,447,403 (GRCm39) Y1069H probably damaging Het
Fndc7 T C 3: 108,776,464 (GRCm39) T526A possibly damaging Het
Fras1 A T 5: 96,881,791 (GRCm39) T2508S probably benign Het
Gast T C 11: 100,227,636 (GRCm39) S73P probably damaging Het
Grap2 A G 15: 80,507,947 (GRCm39) T4A possibly damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Hyal5 A T 6: 24,876,523 (GRCm39) H132L probably benign Het
Iqcm C A 8: 76,396,021 (GRCm39) T188K possibly damaging Het
Kank4 A G 4: 98,668,370 (GRCm39) S26P probably damaging Het
Lipo3 C T 19: 33,762,257 (GRCm39) C80Y probably damaging Het
Lrrk2 A G 15: 91,621,314 (GRCm39) R963G probably benign Het
Lrtm2 G A 6: 119,294,444 (GRCm39) T229I probably damaging Het
Mb21d2 A T 16: 28,646,755 (GRCm39) D406E possibly damaging Het
Meikin T A 11: 54,290,697 (GRCm39) probably null Het
Mybl1 A T 1: 9,743,439 (GRCm39) F538I probably damaging Het
Nectin2 T C 7: 19,451,561 (GRCm39) D491G probably benign Het
Nf1 A G 11: 79,450,347 (GRCm39) D511G probably null Het
Nid2 T C 14: 19,860,065 (GRCm39) C1328R probably damaging Het
Nlrp1a T A 11: 71,013,529 (GRCm39) M574L probably benign Het
Nrap C T 19: 56,310,211 (GRCm39) D1595N probably damaging Het
Nrg3 G A 14: 38,098,391 (GRCm39) P496S probably damaging Het
Or4k41 A T 2: 111,279,910 (GRCm39) I142F probably benign Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Phkb G T 8: 86,648,858 (GRCm39) E225* probably null Het
Plaa T C 4: 94,458,125 (GRCm39) D615G probably damaging Het
Prdm12 A G 2: 31,541,959 (GRCm39) K223E probably damaging Het
Prkd1 C A 12: 50,430,205 (GRCm39) R634L possibly damaging Het
Rassf3 T A 10: 121,250,271 (GRCm39) I181F possibly damaging Het
Samd8 G A 14: 21,825,133 (GRCm39) V30M probably damaging Het
Sema4f A T 6: 82,895,608 (GRCm39) H308Q possibly damaging Het
Skint4 G T 4: 111,975,378 (GRCm39) V113L probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slpi A G 2: 164,198,158 (GRCm39) L12P probably damaging Het
Smco1 A G 16: 32,092,716 (GRCm39) Y129C probably benign Het
Spag17 A G 3: 99,961,169 (GRCm39) K985R possibly damaging Het
Stc1 T C 14: 69,275,924 (GRCm39) I239T probably benign Het
Suclg2 A T 6: 95,474,649 (GRCm39) I372N probably damaging Het
Tmed4 C A 11: 6,224,233 (GRCm39) V80F probably damaging Het
Tnpo2 T A 8: 85,781,800 (GRCm39) probably null Het
Top1 A G 2: 160,544,688 (GRCm39) H268R probably damaging Het
Triobp A T 15: 78,857,900 (GRCm39) Q1167L probably benign Het
Txndc16 G A 14: 45,388,809 (GRCm39) P536L possibly damaging Het
Usp13 C T 3: 32,935,657 (GRCm39) A360V possibly damaging Het
Vhl G A 6: 113,606,423 (GRCm39) V147I probably benign Het
Vldlr A T 19: 27,195,021 (GRCm39) T3S probably damaging Het
Vps54 T A 11: 21,218,832 (GRCm39) D130E probably benign Het
Zfp808 T A 13: 62,319,897 (GRCm39) H375Q probably damaging Het
Zfp87 A T 13: 67,669,334 (GRCm39) N37K probably damaging 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
IGL02342:Crnkl1 APN 2 145,766,633 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- AGCCTCAGGATTGGTTTCCC -3'
(R):5'- TTGAGTTATCGTCTGGGAAAGAAGG -3'

Sequencing Primer
(F):5'- GGTTTCCCTCTATAAGGTGAAGCTC -3'
(R):5'- GAAGTGTGGCTAAATGCAGAC -3'
Posted On 2015-03-25