Incidental Mutation 'IGL02721:Crnkl1'
ID304989
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: 0.961) question?
Stock #IGL02721
Quality Score
Status
Chromosome2
Chromosomal Location145917479-145935014 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 145923881 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 423 (I423K)
Ref Sequence ENSEMBL: ENSMUSP00000001818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001818]
Predicted Effect possibly damaging
Transcript: ENSMUST00000001818
AA Change: I423K

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: I423K

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,980,840 I398L probably benign Het
4931414P19Rik A G 14: 54,585,745 S332P probably damaging Het
Abca7 T C 10: 80,013,635 S1877P possibly damaging Het
Adora2b G T 11: 62,265,105 A127S probably damaging Het
Ahnak A G 19: 9,009,707 K2785R probably benign Het
Anapc2 G A 2: 25,274,668 W21* probably null Het
Atp7b A G 8: 22,022,477 S457P probably benign Het
Catsperb A G 12: 101,625,297 Q1046R probably null Het
Comp A T 8: 70,376,081 N188Y probably damaging Het
Crtap A T 9: 114,381,639 V289E probably damaging Het
Ctnna2 T C 6: 76,981,869 N454S probably damaging Het
Dnah5 A T 15: 28,234,243 probably null Het
Dstyk T G 1: 132,449,316 V220G probably benign Het
E230025N22Rik C T 18: 36,695,611 V5M probably damaging Het
Fam111a T G 19: 12,586,972 N28K probably benign Het
Fbxo32 A G 15: 58,182,962 I284T possibly damaging Het
Fgb A C 3: 83,043,367 V360G possibly damaging Het
Gm3404 A T 5: 146,526,928 R128* probably null Het
Gm5152 T C 5: 10,243,916 K106E probably damaging Het
Hal G T 10: 93,507,498 G535* probably null Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Igsf5 T A 16: 96,391,022 S274T probably damaging Het
Kdm7a C T 6: 39,173,437 A134T possibly damaging Het
Klhl25 G T 7: 75,866,900 W518L probably damaging Het
Map1a A T 2: 121,304,037 D1778V probably benign Het
Nif3l1 A G 1: 58,457,849 D311G probably damaging Het
Numa1 A G 7: 101,999,911 T950A probably benign Het
Nup54 A T 5: 92,417,857 I406N possibly damaging Het
Olfr1389 T A 11: 49,430,641 L55* probably null Het
Olfr509 G T 7: 108,646,375 S67* probably null Het
Olfr800 C T 10: 129,659,955 P50S probably benign Het
Olfr801 A T 10: 129,670,123 I132N probably benign Het
Pcdhb18 T A 18: 37,490,031 M138K probably benign Het
Pik3c2g A G 6: 139,736,973 T27A probably benign Het
Plekhb2 A G 1: 34,869,364 N163S probably benign Het
Ros1 G A 10: 52,172,831 probably benign Het
Sh3gl1 A G 17: 56,017,577 L357P possibly damaging Het
Skint5 T A 4: 113,942,549 D141V probably damaging Het
Slc10a5 A G 3: 10,334,535 V355A probably benign Het
Ssh2 G T 11: 77,454,725 G1179* probably null Het
Syde2 A G 3: 146,002,004 N566S probably damaging Het
Sytl1 T C 4: 133,258,878 R149G probably benign Het
Tnpo2 A G 8: 85,054,690 probably null Het
Top2b T C 14: 16,409,236 L793P probably damaging Het
U2surp T A 9: 95,474,435 E789D probably benign Het
Vps13c G A 9: 67,964,149 probably benign Het
Zbtb34 C T 2: 33,411,258 G424R probably damaging Het
Zfhx4 A G 3: 5,243,307 D531G possibly damaging Het
Zfp787 C T 7: 6,132,464 probably null 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
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 On2015-04-16