Incidental Mutation 'IGL02739:Kif20a'
ID 305799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif20a
Ensembl Gene ENSMUSG00000003779
Gene Name kinesin family member 20A
Synonyms Rabkinesin-6, Rab6kifl
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02739
Quality Score
Status
Chromosome 18
Chromosomal Location 34757677-34766330 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 34761996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 399 (K399*)
Ref Sequence ENSEMBL: ENSMUSP00000130045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003876] [ENSMUST00000025228] [ENSMUST00000097626] [ENSMUST00000115765] [ENSMUST00000115766] [ENSMUST00000133181] [ENSMUST00000167161] [ENSMUST00000166044]
AlphaFold P97329
Predicted Effect probably null
Transcript: ENSMUST00000003876
SMART Domains Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778

DomainStartEndE-ValueType
Blast:SANT 15 74 4e-33 BLAST
coiled coil region 97 132 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 265 282 N/A INTRINSIC
low complexity region 323 339 N/A INTRINSIC
low complexity region 363 378 N/A INTRINSIC
low complexity region 386 404 N/A INTRINSIC
low complexity region 505 516 N/A INTRINSIC
low complexity region 759 773 N/A INTRINSIC
BROMO 778 886 7.59e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000025228
SMART Domains Protein: ENSMUSP00000025228
Gene: ENSMUSG00000024370

DomainStartEndE-ValueType
Pfam:APC8 22 152 1.9e-42 PFAM
Blast:TPR 175 202 4e-10 BLAST
TPR 263 296 4.21e1 SMART
TPR 331 364 1.74e-4 SMART
TPR 365 398 1.83e-3 SMART
TPR 399 432 1.37e-2 SMART
TPR 433 466 8.97e0 SMART
TPR 510 543 1.82e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000097626
SMART Domains Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778

DomainStartEndE-ValueType
Blast:SANT 15 74 3e-33 BLAST
coiled coil region 97 132 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 250 266 N/A INTRINSIC
low complexity region 290 305 N/A INTRINSIC
low complexity region 313 331 N/A INTRINSIC
low complexity region 432 443 N/A INTRINSIC
low complexity region 686 700 N/A INTRINSIC
BROMO 705 813 7.59e-40 SMART
Predicted Effect probably null
Transcript: ENSMUST00000115765
SMART Domains Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778

DomainStartEndE-ValueType
Blast:SANT 15 74 5e-33 BLAST
coiled coil region 97 132 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 265 282 N/A INTRINSIC
low complexity region 323 339 N/A INTRINSIC
low complexity region 363 378 N/A INTRINSIC
low complexity region 386 404 N/A INTRINSIC
low complexity region 505 516 N/A INTRINSIC
low complexity region 759 773 N/A INTRINSIC
BROMO 778 886 7.59e-40 SMART
Predicted Effect probably null
Transcript: ENSMUST00000115766
SMART Domains Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778

DomainStartEndE-ValueType
Blast:SANT 15 74 4e-33 BLAST
coiled coil region 97 132 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 265 282 N/A INTRINSIC
low complexity region 323 337 N/A INTRINSIC
low complexity region 435 446 N/A INTRINSIC
low complexity region 689 703 N/A INTRINSIC
BROMO 708 816 7.59e-40 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127159
Predicted Effect probably benign
Transcript: ENSMUST00000133181
SMART Domains Protein: ENSMUSP00000122420
Gene: ENSMUSG00000024370

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Pfam:ANAPC8 28 151 6.9e-31 PFAM
Blast:TPR 175 202 4e-10 BLAST
TPR 263 296 4.21e1 SMART
TPR 331 364 1.74e-4 SMART
TPR 365 398 1.83e-3 SMART
TPR 399 432 1.37e-2 SMART
TPR 433 466 8.97e0 SMART
TPR 510 543 1.82e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000167161
AA Change: K399*
SMART Domains Protein: ENSMUSP00000130045
Gene: ENSMUSG00000003779
AA Change: K399*

DomainStartEndE-ValueType
KISc 61 514 3.95e-141 SMART
coiled coil region 559 760 N/A INTRINSIC
low complexity region 831 842 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000166044
AA Change: K399*
SMART Domains Protein: ENSMUSP00000132659
Gene: ENSMUSG00000003779
AA Change: K399*

DomainStartEndE-ValueType
KISc 61 514 3.95e-141 SMART
coiled coil region 559 760 N/A INTRINSIC
low complexity region 831 842 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138400
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,026,364 (GRCm39) C887S possibly damaging Het
Adamdec1 C A 14: 68,807,605 (GRCm39) E352* probably null Het
Bglap2 A T 3: 88,285,319 (GRCm39) probably null Het
Bsn A T 9: 107,989,745 (GRCm39) H2002Q probably benign Het
Chtop T A 3: 90,409,557 (GRCm39) Q165L possibly damaging Het
Clcn1 A T 6: 42,263,714 (GRCm39) probably null Het
Ctsr T C 13: 61,309,658 (GRCm39) T184A probably benign Het
Defb36 T C 2: 152,446,439 (GRCm39) L11P unknown Het
Dock8 A G 19: 25,165,852 (GRCm39) E1912G probably damaging Het
Dpp3 A G 19: 4,973,756 (GRCm39) Y106H probably damaging Het
Epas1 A G 17: 87,112,710 (GRCm39) T103A probably damaging Het
Epcam A T 17: 87,947,922 (GRCm39) T131S probably benign Het
Fam169a A G 13: 97,230,563 (GRCm39) probably benign Het
Gh T A 11: 106,192,559 (GRCm39) probably benign Het
Lrp1b A G 2: 41,388,227 (GRCm39) I466T probably damaging Het
Nlk A G 11: 78,465,677 (GRCm39) V409A probably benign Het
Nomo1 A G 7: 45,693,731 (GRCm39) probably null Het
Nr2c1 T A 10: 93,992,834 (GRCm39) M16K probably damaging Het
Nxph2 A T 2: 23,289,912 (GRCm39) Q88L probably benign Het
Or51a39 A G 7: 102,363,521 (GRCm39) I33T possibly damaging Het
Pkdrej T A 15: 85,703,895 (GRCm39) R680S probably benign Het
Pkhd1l1 A T 15: 44,404,346 (GRCm39) N2325I probably benign Het
Pnliprp2 T C 19: 58,748,941 (GRCm39) probably null Het
Ppp1r42 T A 1: 10,039,078 (GRCm39) K347N probably benign Het
Prtg T C 9: 72,758,867 (GRCm39) V407A possibly damaging Het
Psmb8 C A 17: 34,419,728 (GRCm39) S194* probably null Het
Rnf214 T C 9: 45,780,772 (GRCm39) I406V probably benign Het
Rreb1 C T 13: 38,077,797 (GRCm39) S3L probably damaging Het
Sdad1 C T 5: 92,437,931 (GRCm39) A539T probably benign Het
Sema3a A G 5: 13,501,128 (GRCm39) Y57C probably damaging Het
Susd5 A G 9: 113,925,101 (GRCm39) E328G possibly damaging Het
Syngr3 T C 17: 24,905,372 (GRCm39) T175A probably damaging Het
Tcf20 T A 15: 82,740,281 (GRCm39) Q390L probably damaging Het
Tex15 A G 8: 34,071,721 (GRCm39) T2423A possibly damaging Het
Tlr1 T C 5: 65,084,469 (GRCm39) N36S probably benign Het
Uchl4 C T 9: 64,142,819 (GRCm39) T100M probably damaging Het
Uhrf1 A G 17: 56,612,129 (GRCm39) K11R probably benign Het
Vps13b T A 15: 35,880,046 (GRCm39) D3040E probably damaging Het
Wdr62 A T 7: 29,941,885 (GRCm39) Y640* probably null Het
Zkscan17 T G 11: 59,394,352 (GRCm39) E83A probably damaging Het
Other mutations in Kif20a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02448:Kif20a APN 18 34,761,507 (GRCm39) missense possibly damaging 0.49
IGL02654:Kif20a APN 18 34,765,076 (GRCm39) missense probably damaging 1.00
R0600:Kif20a UTSW 18 34,762,262 (GRCm39) missense probably damaging 1.00
R0748:Kif20a UTSW 18 34,761,241 (GRCm39) splice site probably benign
R0856:Kif20a UTSW 18 34,764,271 (GRCm39) missense probably benign
R1278:Kif20a UTSW 18 34,759,830 (GRCm39) missense probably benign 0.00
R1752:Kif20a UTSW 18 34,764,634 (GRCm39) missense possibly damaging 0.82
R2036:Kif20a UTSW 18 34,761,515 (GRCm39) missense possibly damaging 0.91
R2143:Kif20a UTSW 18 34,758,657 (GRCm39) missense possibly damaging 0.55
R2144:Kif20a UTSW 18 34,758,657 (GRCm39) missense possibly damaging 0.55
R4231:Kif20a UTSW 18 34,765,091 (GRCm39) missense probably benign
R4372:Kif20a UTSW 18 34,762,531 (GRCm39) missense probably damaging 1.00
R4426:Kif20a UTSW 18 34,764,994 (GRCm39) missense probably damaging 1.00
R4584:Kif20a UTSW 18 34,765,664 (GRCm39) missense probably damaging 1.00
R5524:Kif20a UTSW 18 34,763,678 (GRCm39) critical splice donor site probably null
R5867:Kif20a UTSW 18 34,765,468 (GRCm39) missense probably benign 0.01
R5869:Kif20a UTSW 18 34,765,468 (GRCm39) missense probably benign 0.01
R5949:Kif20a UTSW 18 34,765,468 (GRCm39) missense probably benign 0.01
R5958:Kif20a UTSW 18 34,765,468 (GRCm39) missense probably benign 0.01
R5959:Kif20a UTSW 18 34,765,468 (GRCm39) missense probably benign 0.01
R5967:Kif20a UTSW 18 34,763,580 (GRCm39) missense probably benign 0.10
R5969:Kif20a UTSW 18 34,765,468 (GRCm39) missense probably benign 0.01
R6175:Kif20a UTSW 18 34,761,199 (GRCm39) missense probably damaging 0.98
R6490:Kif20a UTSW 18 34,762,543 (GRCm39) missense possibly damaging 0.84
R6694:Kif20a UTSW 18 34,758,579 (GRCm39) missense probably damaging 0.98
R6866:Kif20a UTSW 18 34,761,546 (GRCm39) missense probably benign 0.10
R7129:Kif20a UTSW 18 34,765,588 (GRCm39) missense probably benign 0.00
R7217:Kif20a UTSW 18 34,762,613 (GRCm39) missense probably benign 0.14
R7397:Kif20a UTSW 18 34,760,729 (GRCm39) missense probably damaging 1.00
R7585:Kif20a UTSW 18 34,758,591 (GRCm39) missense probably benign 0.03
R8302:Kif20a UTSW 18 34,765,030 (GRCm39) missense probably damaging 1.00
R8306:Kif20a UTSW 18 34,761,444 (GRCm39) missense probably benign 0.00
R8325:Kif20a UTSW 18 34,759,975 (GRCm39) missense possibly damaging 0.68
R8697:Kif20a UTSW 18 34,761,584 (GRCm39) missense probably benign 0.19
R9022:Kif20a UTSW 18 34,760,898 (GRCm39) missense probably benign 0.00
R9331:Kif20a UTSW 18 34,762,562 (GRCm39) nonsense probably null
R9345:Kif20a UTSW 18 34,759,779 (GRCm39) missense probably benign 0.00
R9716:Kif20a UTSW 18 34,762,228 (GRCm39) missense possibly damaging 0.66
X0027:Kif20a UTSW 18 34,758,583 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16