Incidental Mutation 'R6490:Kif20a'
ID 522835
Institutional Source Beutler Lab
Gene Symbol Kif20a
Ensembl Gene ENSMUSG00000003779
Gene Name kinesin family member 20A
Synonyms Rabkinesin-6, Rab6kifl
MMRRC Submission 044622-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6490 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 34757677-34766330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34762543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 472 (T472K)
Ref Sequence ENSEMBL: ENSMUSP00000130045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003876] [ENSMUST00000025228] [ENSMUST00000097626] [ENSMUST00000115765] [ENSMUST00000115766] [ENSMUST00000166044] [ENSMUST00000167161] [ENSMUST00000133181]
AlphaFold P97329
Predicted Effect probably benign
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 benign
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 benign
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 benign
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 possibly damaging
Transcript: ENSMUST00000166044
AA Change: T472K

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132659
Gene: ENSMUSG00000003779
AA Change: T472K

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 possibly damaging
Transcript: ENSMUST00000167161
AA Change: T472K

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130045
Gene: ENSMUSG00000003779
AA Change: T472K

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: ENSMUST00000145431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138400
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 noncoding transcript
Transcript: ENSMUST00000153569
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik T G 8: 122,267,293 (GRCm39) K38T probably benign Het
Abca13 A G 11: 9,248,661 (GRCm39) T2803A probably benign Het
Adam23 A G 1: 63,596,613 (GRCm39) D565G probably damaging Het
Adcy3 A G 12: 4,262,150 (GRCm39) T1067A probably damaging Het
Agrn A T 4: 156,251,819 (GRCm39) Y1921* probably null Het
Apc2 A G 10: 80,149,757 (GRCm39) N1604D probably benign Het
Atxn7 A T 14: 14,089,446 (GRCm38) R321* probably null Het
Axin1 T A 17: 26,361,968 (GRCm39) I104N probably damaging Het
Bahd1 T C 2: 118,747,619 (GRCm39) S413P probably benign Het
Baz2b C T 2: 59,732,073 (GRCm39) C2024Y probably damaging Het
Cacna1i T A 15: 80,262,448 (GRCm39) V1388E probably damaging Het
Ces4a G A 8: 105,876,090 (GRCm39) V544M probably benign Het
Cntn3 G A 6: 102,255,301 (GRCm39) T199I probably damaging Het
Col6a4 A T 9: 105,952,191 (GRCm39) L569* probably null Het
Ctnna2 A G 6: 77,120,892 (GRCm39) I12T probably benign Het
Dhx37 A G 5: 125,496,196 (GRCm39) M754T probably benign Het
Dmrt1 T A 19: 25,523,395 (GRCm39) S249T possibly damaging Het
Ell G T 8: 71,025,553 (GRCm39) S59I probably damaging Het
Fam89a G A 8: 125,467,982 (GRCm39) S110F probably damaging Het
Fer1l4 A C 2: 155,889,834 (GRCm39) F278V possibly damaging Het
Fyn T C 10: 39,427,398 (GRCm39) I427T probably damaging Het
Galnt14 T C 17: 73,832,365 (GRCm39) D250G probably damaging Het
Glp1r T C 17: 31,143,546 (GRCm39) V194A probably damaging Het
Glt1d1 T A 5: 127,721,360 (GRCm39) probably null Het
Gm7995 A G 14: 42,133,327 (GRCm39) K69R probably benign Het
Grip1 A G 10: 119,822,329 (GRCm39) T379A possibly damaging Het
Gtpbp2 G T 17: 46,479,147 (GRCm39) A570S probably benign Het
Hmcn1 T C 1: 150,459,029 (GRCm39) I5192V probably benign Het
Igfl3 A T 7: 17,913,844 (GRCm39) I65F possibly damaging Het
Igsf10 G T 3: 59,236,992 (GRCm39) T1063K probably benign Het
Itfg1 A G 8: 86,466,930 (GRCm39) V381A probably benign Het
Itprid1 A G 6: 55,953,405 (GRCm39) D907G probably damaging Het
Jmjd8 T A 17: 26,048,086 (GRCm39) V16E probably benign Het
Kank1 A G 19: 25,387,449 (GRCm39) Y374C probably damaging Het
Kcnma1 C T 14: 23,386,165 (GRCm39) V891I possibly damaging Het
Klhl32 A T 4: 24,711,578 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,347,486 (GRCm39) S3070P unknown Het
Mettl21e T G 1: 44,249,425 (GRCm39) Y77S probably damaging Het
Mlst8 G T 17: 24,696,935 (GRCm39) D82E probably benign Het
Mrgprx2 A T 7: 48,132,617 (GRCm39) L67Q probably damaging Het
Mylk T A 16: 34,750,237 (GRCm39) L1192Q possibly damaging Het
Myt1l A T 12: 29,882,365 (GRCm39) Y520F unknown Het
Naip2 A T 13: 100,297,193 (GRCm39) W948R probably benign Het
Nlrp9a A C 7: 26,250,311 (GRCm39) K25N probably damaging Het
Nsd3 T C 8: 26,204,212 (GRCm39) C414R probably damaging Het
Oit3 A T 10: 59,274,374 (GRCm39) V142D possibly damaging Het
Or2aj6 C T 16: 19,443,194 (GRCm39) V219M probably benign Het
P2ry6 T C 7: 100,587,580 (GRCm39) T260A probably damaging Het
Papola A G 12: 105,771,196 (GRCm39) Q87R probably benign Het
Pla2g4a T A 1: 149,727,086 (GRCm39) R557* probably null Het
Rgs13 G T 1: 144,016,576 (GRCm39) H56N probably damaging Het
Sbf1 T C 15: 89,189,111 (GRCm39) S537G probably benign Het
Sntg1 A C 1: 8,653,508 (GRCm39) L243R possibly damaging Het
Spata31h1 A T 10: 82,125,138 (GRCm39) L2624Q possibly damaging Het
Stam2 T C 2: 52,610,954 (GRCm39) T23A probably benign Het
Tbl1xr1 C A 3: 22,258,141 (GRCm39) H467Q probably damaging Het
Tmem131l A G 3: 83,820,587 (GRCm39) S1222P possibly damaging Het
Tmem43 G T 6: 91,455,759 (GRCm39) Q123H probably damaging Het
Tmem43 T A 6: 91,463,862 (GRCm39) I379N possibly damaging Het
Trim43c A T 9: 88,727,003 (GRCm39) I277F possibly damaging Het
Ttn A G 2: 76,703,211 (GRCm39) probably benign Het
Vmn1r75 T A 7: 11,615,003 (GRCm39) V245D probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vps53 A T 11: 75,967,881 (GRCm39) M414K probably benign Het
Wrn T G 8: 33,809,248 (GRCm39) L249F probably benign Het
Zc3h13 TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT TGATGTCCGGGATGTCCGGGATGTCCGGGATGT 14: 75,560,998 (GRCm39) probably benign Het
Zfp454 T C 11: 50,764,950 (GRCm39) N161D probably benign Het
Zfp619 G A 7: 39,183,586 (GRCm39) G60R probably benign Het
Zfp623 T A 15: 75,820,308 (GRCm39) H421Q probably damaging Het
Zfp827 A G 8: 79,916,606 (GRCm39) probably benign 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
IGL02739:Kif20a APN 18 34,761,996 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- TTTGCTCAGTTCCTGGTCAG -3'
(R):5'- GAGCTATTTTAAGATTGCCAGTCC -3'

Sequencing Primer
(F):5'- AGTTCCTGGTCAGCCCTGAG -3'
(R):5'- GTTCTAGGATAGCTGGACTACAC -3'
Posted On 2018-06-06