Incidental Mutation 'IGL03131:Crnkl1'
ID 410307
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 # IGL03131
Quality Score
Status
Chromosome 2
Chromosomal Location 145759402-145776620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 145774178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 95 (K95R)
Ref Sequence ENSEMBL: ENSMUSP00000001818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001818] [ENSMUST00000116398] [ENSMUST00000118002] [ENSMUST00000126415] [ENSMUST00000130168] [ENSMUST00000133433] [ENSMUST00000138774] [ENSMUST00000152515]
AlphaFold P63154
Predicted Effect probably benign
Transcript: ENSMUST00000001818
AA Change: K95R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: K95R

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: ENSMUST00000116398
SMART Domains Protein: ENSMUSP00000112099
Gene: ENSMUSG00000037143

DomainStartEndE-ValueType
SCOP:d1b87a_ 183 237 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118002
SMART Domains Protein: ENSMUSP00000113529
Gene: ENSMUSG00000037143

DomainStartEndE-ValueType
transmembrane domain 133 155 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126415
SMART Domains Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143

DomainStartEndE-ValueType
SCOP:d1b87a_ 183 244 1e-5 SMART
low complexity region 355 368 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130168
SMART Domains Protein: ENSMUSP00000121294
Gene: ENSMUSG00000037143

DomainStartEndE-ValueType
transmembrane domain 133 155 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133433
SMART Domains Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143

DomainStartEndE-ValueType
Pfam:DUF4821 15 272 1.1e-96 PFAM
low complexity region 355 368 N/A INTRINSIC
low complexity region 661 672 N/A INTRINSIC
low complexity region 1172 1182 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147904
Predicted Effect probably benign
Transcript: ENSMUST00000138774
SMART Domains Protein: ENSMUSP00000120838
Gene: ENSMUSG00000037143

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
transmembrane domain 49 71 N/A INTRINSIC
SCOP:d1b87a_ 99 153 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152515
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,473,251 (GRCm39) R135S unknown Het
A1bg T C 15: 60,791,605 (GRCm39) Y277C probably damaging Het
Abca12 A T 1: 71,385,861 (GRCm39) F252L probably benign Het
Abcd3 A T 3: 121,575,640 (GRCm39) probably benign Het
Acvr2b C A 9: 119,260,350 (GRCm39) F364L possibly damaging Het
Adamts12 T C 15: 11,345,650 (GRCm39) C1564R probably damaging Het
Agap3 A G 5: 24,682,130 (GRCm39) T392A probably benign Het
Ano1 A G 7: 144,157,322 (GRCm39) F767L possibly damaging Het
Atg10 C A 13: 91,085,412 (GRCm39) R179I probably null Het
Bsph1 A T 7: 13,207,012 (GRCm39) K129N probably damaging Het
Calml4 A G 9: 62,782,765 (GRCm39) D77G probably benign Het
Cc2d1a T A 8: 84,870,056 (GRCm39) K153M probably damaging Het
Col4a2 G A 8: 11,475,979 (GRCm39) V672I probably benign Het
Crtap T C 9: 114,209,072 (GRCm39) D324G possibly damaging Het
Csmd1 C T 8: 16,138,231 (GRCm39) G1607E probably damaging Het
Dcbld2 T G 16: 58,272,051 (GRCm39) I369R probably benign Het
Dmc1 T A 15: 79,452,892 (GRCm39) I246L probably benign Het
Dock1 G T 7: 134,475,912 (GRCm39) V896L possibly damaging Het
Eftud2 G A 11: 102,761,009 (GRCm39) T112M probably damaging Het
F5 A T 1: 163,989,388 (GRCm39) I97F possibly damaging Het
Fasn C T 11: 120,701,550 (GRCm39) V1939M possibly damaging Het
Gpatch2l T C 12: 86,328,285 (GRCm39) V414A probably benign Het
Gpd2 T C 2: 57,228,855 (GRCm39) probably benign Het
Gria4 T G 9: 4,432,876 (GRCm39) N769T probably damaging Het
Gtf3c2 A T 5: 31,314,964 (GRCm39) F885I probably damaging Het
Ifi209 C T 1: 173,468,800 (GRCm39) T210I possibly damaging Het
Kmt2c A G 5: 25,520,359 (GRCm39) V1917A probably benign Het
Mad1l1 G A 5: 140,293,458 (GRCm39) A120V probably benign Het
Mef2c T C 13: 83,810,494 (GRCm39) I382T probably damaging Het
Ms4a14 A T 19: 11,285,056 (GRCm39) L171I probably benign Het
Myf6 T A 10: 107,330,132 (GRCm39) Q145L probably damaging Het
Myh3 G A 11: 66,981,935 (GRCm39) probably benign Het
Nbas A G 12: 13,329,417 (GRCm39) I121V probably benign Het
Ncoa2 A T 1: 13,247,398 (GRCm39) S342T probably damaging Het
Nlrp1b C T 11: 71,052,741 (GRCm39) D896N possibly damaging Het
Prss41 A G 17: 24,061,498 (GRCm39) Y98H probably benign Het
Ptpn13 A T 5: 103,665,425 (GRCm39) T450S probably benign Het
Rab39 G A 9: 53,597,861 (GRCm39) R135C probably damaging Het
Radil A G 5: 142,481,097 (GRCm39) V570A probably damaging Het
Sbno1 C T 5: 124,526,668 (GRCm39) R949Q probably damaging Het
Sec61a2 T A 2: 5,887,689 (GRCm39) K98* probably null Het
Serbp1 T A 6: 67,258,807 (GRCm39) probably null Het
Serpinb3c G T 1: 107,199,457 (GRCm39) Q355K probably benign Het
Slc34a3 T G 2: 25,121,246 (GRCm39) D307A probably benign Het
Smarcad1 T A 6: 65,051,937 (GRCm39) S357T probably damaging Het
Spag17 G A 3: 99,918,075 (GRCm39) D353N possibly damaging Het
Spdl1 T A 11: 34,721,592 (GRCm39) Q39L possibly damaging Het
Syne2 A C 12: 76,104,264 (GRCm39) Q5485P probably damaging Het
Synj1 C A 16: 90,785,056 (GRCm39) V227F probably damaging Het
Syt12 T C 19: 4,506,882 (GRCm39) T88A probably benign Het
Tasor C T 14: 27,183,136 (GRCm39) Q532* probably null Het
Tlr12 A G 4: 128,509,670 (GRCm39) F860S probably damaging Het
Trdn C A 10: 33,274,410 (GRCm39) S461* probably null Het
Trip4 G A 9: 65,764,727 (GRCm39) P413S probably benign Het
Wdr17 A G 8: 55,149,302 (GRCm39) probably null Het
Wnt9a T C 11: 59,221,855 (GRCm39) L251P probably damaging Het
Xrcc1 A T 7: 24,272,719 (GRCm39) K618* probably null Het
Zfp759 T C 13: 67,286,728 (GRCm39) L93P 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
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 2016-08-02