Incidental Mutation 'R4372:Kif20a'
ID 326037
Institutional Source Beutler Lab
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 # R4372 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 34757677-34766330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34762531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 468 (Q468L)
Ref Sequence ENSEMBL: ENSMUSP00000130045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003876] [ENSMUST00000025228] [ENSMUST00000097626] [ENSMUST00000115765] [ENSMUST00000115766] [ENSMUST00000167161] [ENSMUST00000166044] [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 probably damaging
Transcript: ENSMUST00000167161
AA Change: Q468L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130045
Gene: ENSMUSG00000003779
AA Change: Q468L

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 damaging
Transcript: ENSMUST00000166044
AA Change: Q468L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132659
Gene: ENSMUSG00000003779
AA Change: Q468L

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: ENSMUST00000138400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153569
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik T C 11: 106,919,293 (GRCm39) Y213H probably damaging Het
Alg5 T C 3: 54,646,376 (GRCm39) probably null Het
Bend7 A T 2: 4,754,421 (GRCm39) I175F probably damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dnah1 C T 14: 31,026,879 (GRCm39) R715H probably damaging Het
Ipp T A 4: 116,372,560 (GRCm39) D196E possibly damaging Het
Kcna5 A G 6: 126,510,320 (GRCm39) *603Q probably null Het
Kdm3b A G 18: 34,960,497 (GRCm39) T1161A probably benign Het
Map7d2 A G X: 158,273,680 (GRCm39) probably benign Het
Mdn1 A G 4: 32,743,809 (GRCm39) E4015G probably benign Het
Mri1 A G 8: 84,980,554 (GRCm39) V296A probably benign Het
Mtmr7 A G 8: 41,007,386 (GRCm39) S516P probably damaging Het
Pcdhb10 T C 18: 37,546,366 (GRCm39) S481P possibly damaging Het
Pip4p2 C T 4: 14,912,463 (GRCm39) R191C probably damaging Het
Pklr C T 3: 89,052,830 (GRCm39) R528* probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Samsn1 G A 16: 75,656,344 (GRCm39) T368I possibly damaging Het
Sema4d T C 13: 51,866,767 (GRCm39) E241G probably damaging Het
Shank2 G A 7: 143,964,599 (GRCm39) G729R probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Vmn2r53 A G 7: 12,315,656 (GRCm39) V721A probably damaging Het
Wdr17 T A 8: 55,092,930 (GRCm39) Y1076F probably damaging Het
Wdr75 T C 1: 45,845,833 (GRCm39) probably benign Het
Zhx2 A G 15: 57,686,697 (GRCm39) S689G 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
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
Predicted Primers PCR Primer
(F):5'- TCAGCAGAACCGGTAAGCTG -3'
(R):5'- AGAGCTATTTTAAGATTGCCAGTCC -3'

Sequencing Primer
(F):5'- CAGAACCGGTAAGCTGTAGGC -3'
(R):5'- GTTCTAGGATAGCTGGACTACAC -3'
Posted On 2015-07-06