Incidental Mutation 'R7285:Kif13a'
ID 565952
Institutional Source Beutler Lab
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
MMRRC Submission 045393-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R7285 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 46902563-47083343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46905931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 671 (V671M)
Ref Sequence ENSEMBL: ENSMUSP00000153657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000223881]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000056978
AA Change: V1619M

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: V1619M

DomainStartEndE-ValueType
KISc 3 360 2.69e-175 SMART
low complexity region 368 381 N/A INTRINSIC
low complexity region 391 406 N/A INTRINSIC
FHA 469 519 7.16e-2 SMART
coiled coil region 605 639 N/A INTRINSIC
coiled coil region 664 704 N/A INTRINSIC
Pfam:KIF1B 748 792 1.7e-19 PFAM
low complexity region 840 854 N/A INTRINSIC
low complexity region 903 915 N/A INTRINSIC
Pfam:DUF3694 1003 1270 2.2e-39 PFAM
low complexity region 1401 1412 N/A INTRINSIC
low complexity region 1475 1492 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000223881
AA Change: V671M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect
Meta Mutation Damage Score 0.0761 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased anxiety. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,388,314 (GRCm39) C185* probably null Het
Abcc3 C T 11: 94,247,873 (GRCm39) A1207T probably benign Het
Adam1b T G 5: 121,639,056 (GRCm39) D663A probably damaging Het
Arhgap12 A T 18: 6,111,920 (GRCm39) L148Q probably damaging Het
Cdh4 A T 2: 179,439,258 (GRCm39) Q135L probably benign Het
Clca3b T C 3: 144,543,519 (GRCm39) I437V probably benign Het
Cldn15 A T 5: 137,001,327 (GRCm39) H124L probably benign Het
Cyp4a30b T C 4: 115,313,848 (GRCm39) M143T probably damaging Het
Dgcr2 A T 16: 17,662,944 (GRCm39) C353* probably null Het
Dhcr24 T A 4: 106,428,716 (GRCm39) probably null Het
Dock1 T G 7: 134,346,737 (GRCm39) L223R probably benign Het
Ece1 T A 4: 137,641,074 (GRCm39) probably null Het
Efcab5 A G 11: 77,028,170 (GRCm39) V387A probably benign Het
Efcab5 A G 11: 77,029,041 (GRCm39) F97L possibly damaging Het
Eme2 A T 17: 25,113,543 (GRCm39) probably null Het
Enpp1 G A 10: 24,536,059 (GRCm39) T447I probably benign Het
Fam222b T C 11: 78,034,007 (GRCm39) S17P probably benign Het
Fbln1 A G 15: 85,121,829 (GRCm39) I317V probably benign Het
Fn1 T C 1: 71,676,498 (GRCm39) K578E probably damaging Het
Fscb A T 12: 64,518,323 (GRCm39) S1048T unknown Het
Fsd1l T A 4: 53,682,200 (GRCm39) probably null Het
Hexa T A 9: 59,471,222 (GRCm39) I492K probably benign Het
Inpp5e G A 2: 26,287,870 (GRCm39) A642V probably benign Het
Ints11 C T 4: 155,970,568 (GRCm39) A241V probably damaging Het
Irs2 A G 8: 11,056,797 (GRCm39) L545P probably damaging Het
Katnal2 G A 18: 77,081,271 (GRCm39) A409V probably benign Het
Lbx2 A G 6: 83,064,877 (GRCm39) K138R probably damaging Het
Lcor A G 19: 41,572,754 (GRCm39) K503R possibly damaging Het
Lpp G A 16: 24,796,029 (GRCm39) A558T probably damaging Het
Lypla1 T C 1: 4,911,321 (GRCm39) I202T probably benign Het
Magi3 G A 3: 103,941,430 (GRCm39) P842S probably benign Het
Meioc G A 11: 102,557,168 (GRCm39) V25M probably benign Het
Mthfr C T 4: 148,138,056 (GRCm39) T557I probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Or2t44 T A 11: 58,677,310 (GRCm39) Y83* probably null Het
Or5d20-ps1 A T 2: 87,932,049 (GRCm39) I94N probably damaging Het
Osbpl10 A T 9: 115,052,771 (GRCm39) I440F probably damaging Het
Otx2 G A 14: 48,898,922 (GRCm39) A36V probably benign Het
Parg A G 14: 31,932,465 (GRCm39) Y435C probably damaging Het
Parvb A T 15: 84,166,985 (GRCm39) D100V possibly damaging Het
Prss27 A G 17: 24,264,665 (GRCm39) H276R probably benign Het
Prune1 T A 3: 95,162,357 (GRCm39) S439C probably damaging Het
Pudp C G 18: 50,701,287 (GRCm39) E149Q possibly damaging Het
Qng1 T C 13: 58,532,199 (GRCm39) Y119C probably damaging Het
Sin3a C A 9: 57,034,583 (GRCm39) T1252N possibly damaging Het
Sptbn2 A G 19: 4,787,471 (GRCm39) D927G probably benign Het
Stx18 C T 5: 38,262,251 (GRCm39) T89I possibly damaging Het
Ticrr T C 7: 79,310,610 (GRCm39) S175P possibly damaging Het
Tinag T C 9: 76,952,943 (GRCm39) T14A probably benign Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Trpm1 G T 7: 63,859,729 (GRCm39) E396* probably null Het
Txndc11 A G 16: 10,902,163 (GRCm39) Y684H probably damaging Het
Usp47 G A 7: 111,692,315 (GRCm39) E926K probably benign Het
Vmn1r233 A G 17: 21,214,221 (GRCm39) I243T probably damaging Het
Ythdf3 T A 3: 16,258,049 (GRCm39) probably null Het
Zfp12 A G 5: 143,230,444 (GRCm39) K289R probably damaging Het
Zfp950 T A 19: 61,107,550 (GRCm39) H511L probably benign Het
Other mutations in Kif13a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Kif13a APN 13 46,904,110 (GRCm39) splice site probably benign
IGL01433:Kif13a APN 13 46,926,384 (GRCm39) missense probably damaging 1.00
IGL01528:Kif13a APN 13 47,018,313 (GRCm39) splice site probably benign
IGL01536:Kif13a APN 13 46,905,765 (GRCm39) missense probably damaging 0.96
IGL01620:Kif13a APN 13 47,018,296 (GRCm39) missense probably benign
IGL02020:Kif13a APN 13 46,947,495 (GRCm39) missense probably benign 0.05
IGL02142:Kif13a APN 13 46,925,011 (GRCm39) missense probably benign 0.04
IGL02375:Kif13a APN 13 46,978,698 (GRCm39) missense probably damaging 1.00
IGL02407:Kif13a APN 13 46,938,769 (GRCm39) missense probably damaging 0.99
IGL02476:Kif13a APN 13 46,938,772 (GRCm39) missense probably damaging 1.00
IGL03038:Kif13a APN 13 46,926,314 (GRCm39) missense probably damaging 1.00
IGL03053:Kif13a APN 13 46,905,564 (GRCm39) missense probably benign 0.01
IGL03366:Kif13a APN 13 46,918,099 (GRCm39) missense probably benign 0.00
R0025:Kif13a UTSW 13 46,939,987 (GRCm39) critical splice donor site probably null
R0106:Kif13a UTSW 13 46,978,823 (GRCm39) splice site probably benign
R0106:Kif13a UTSW 13 46,978,823 (GRCm39) splice site probably benign
R0135:Kif13a UTSW 13 46,947,419 (GRCm39) missense probably damaging 0.99
R0137:Kif13a UTSW 13 46,918,079 (GRCm39) missense probably benign 0.38
R0243:Kif13a UTSW 13 46,944,827 (GRCm39) missense probably benign 0.24
R0346:Kif13a UTSW 13 46,967,695 (GRCm39) missense possibly damaging 0.95
R0403:Kif13a UTSW 13 46,944,877 (GRCm39) missense probably damaging 1.00
R0492:Kif13a UTSW 13 46,966,218 (GRCm39) missense possibly damaging 0.93
R0607:Kif13a UTSW 13 46,956,187 (GRCm39) missense probably damaging 0.96
R0631:Kif13a UTSW 13 46,932,364 (GRCm39) unclassified probably benign
R0654:Kif13a UTSW 13 46,966,218 (GRCm39) missense possibly damaging 0.93
R0697:Kif13a UTSW 13 47,001,813 (GRCm39) missense probably benign 0.19
R0699:Kif13a UTSW 13 46,952,689 (GRCm39) missense possibly damaging 0.92
R0715:Kif13a UTSW 13 46,966,299 (GRCm39) missense probably damaging 0.98
R0834:Kif13a UTSW 13 46,967,712 (GRCm39) missense probably damaging 0.96
R0903:Kif13a UTSW 13 47,082,735 (GRCm39) missense possibly damaging 0.75
R1419:Kif13a UTSW 13 46,978,711 (GRCm39) missense probably damaging 1.00
R1428:Kif13a UTSW 13 46,944,987 (GRCm39) splice site probably benign
R1449:Kif13a UTSW 13 46,966,212 (GRCm39) missense probably damaging 1.00
R1463:Kif13a UTSW 13 47,083,088 (GRCm39) missense possibly damaging 0.75
R1541:Kif13a UTSW 13 46,962,689 (GRCm39) missense probably benign
R1579:Kif13a UTSW 13 46,906,332 (GRCm39) missense possibly damaging 0.93
R1582:Kif13a UTSW 13 46,947,398 (GRCm39) missense probably benign 0.03
R1644:Kif13a UTSW 13 46,947,398 (GRCm39) missense probably benign 0.31
R1752:Kif13a UTSW 13 46,951,885 (GRCm39) missense probably damaging 1.00
R1755:Kif13a UTSW 13 46,927,154 (GRCm39) missense possibly damaging 0.50
R1755:Kif13a UTSW 13 46,906,089 (GRCm39) missense possibly damaging 0.73
R1858:Kif13a UTSW 13 47,018,314 (GRCm39) splice site probably benign
R1891:Kif13a UTSW 13 47,082,695 (GRCm39) missense possibly damaging 0.63
R1902:Kif13a UTSW 13 46,941,638 (GRCm39) missense probably benign 0.00
R1928:Kif13a UTSW 13 46,966,221 (GRCm39) missense probably damaging 1.00
R1960:Kif13a UTSW 13 47,018,314 (GRCm39) splice site probably benign
R1961:Kif13a UTSW 13 47,018,314 (GRCm39) splice site probably benign
R2016:Kif13a UTSW 13 46,964,275 (GRCm39) missense probably benign 0.13
R2139:Kif13a UTSW 13 46,905,945 (GRCm39) missense possibly damaging 0.92
R2174:Kif13a UTSW 13 46,922,652 (GRCm39) missense probably damaging 0.99
R2407:Kif13a UTSW 13 46,930,573 (GRCm39) missense probably damaging 1.00
R2504:Kif13a UTSW 13 46,967,676 (GRCm39) missense probably damaging 1.00
R3122:Kif13a UTSW 13 46,918,072 (GRCm39) splice site probably benign
R3499:Kif13a UTSW 13 46,978,815 (GRCm39) missense probably damaging 1.00
R3905:Kif13a UTSW 13 46,956,166 (GRCm39) missense probably damaging 1.00
R4474:Kif13a UTSW 13 46,967,631 (GRCm39) splice site probably null
R4771:Kif13a UTSW 13 46,978,687 (GRCm39) missense probably damaging 1.00
R4838:Kif13a UTSW 13 46,980,224 (GRCm39) missense probably damaging 1.00
R4924:Kif13a UTSW 13 47,083,075 (GRCm39) missense probably damaging 1.00
R4931:Kif13a UTSW 13 46,962,531 (GRCm39) missense probably damaging 0.96
R4980:Kif13a UTSW 13 46,906,222 (GRCm39) missense possibly damaging 0.76
R4992:Kif13a UTSW 13 46,930,639 (GRCm39) missense probably damaging 0.96
R5047:Kif13a UTSW 13 46,941,561 (GRCm39) missense probably benign 0.00
R5054:Kif13a UTSW 13 46,956,122 (GRCm39) missense probably damaging 1.00
R5141:Kif13a UTSW 13 46,906,197 (GRCm39) missense probably benign
R5329:Kif13a UTSW 13 46,928,877 (GRCm39) critical splice donor site probably null
R5429:Kif13a UTSW 13 46,926,245 (GRCm39) critical splice donor site probably null
R5499:Kif13a UTSW 13 46,986,212 (GRCm39) missense probably damaging 1.00
R5509:Kif13a UTSW 13 46,905,591 (GRCm39) missense probably benign 0.13
R5594:Kif13a UTSW 13 46,906,338 (GRCm39) missense probably damaging 1.00
R5921:Kif13a UTSW 13 46,978,776 (GRCm39) missense probably damaging 1.00
R5964:Kif13a UTSW 13 46,925,000 (GRCm39) missense probably damaging 1.00
R6115:Kif13a UTSW 13 46,954,789 (GRCm39) missense probably damaging 1.00
R6317:Kif13a UTSW 13 46,980,233 (GRCm39) missense probably damaging 1.00
R6318:Kif13a UTSW 13 46,968,683 (GRCm39) splice site probably null
R6393:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R6394:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R6395:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R6735:Kif13a UTSW 13 46,906,222 (GRCm39) missense possibly damaging 0.76
R7037:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R7038:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R7039:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R7237:Kif13a UTSW 13 46,962,632 (GRCm39) critical splice donor site probably null
R7286:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R7287:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R7341:Kif13a UTSW 13 46,980,221 (GRCm39) missense probably damaging 1.00
R7693:Kif13a UTSW 13 46,904,089 (GRCm39) missense probably benign 0.01
R7761:Kif13a UTSW 13 46,951,955 (GRCm39) missense probably benign
R8098:Kif13a UTSW 13 46,968,780 (GRCm39) missense probably damaging 1.00
R8171:Kif13a UTSW 13 46,932,444 (GRCm39) missense probably damaging 1.00
R8271:Kif13a UTSW 13 46,906,057 (GRCm39) missense probably benign 0.01
R8806:Kif13a UTSW 13 46,914,813 (GRCm39) missense possibly damaging 0.49
R8871:Kif13a UTSW 13 46,984,279 (GRCm39) missense probably damaging 1.00
R8877:Kif13a UTSW 13 46,954,921 (GRCm39) critical splice acceptor site probably null
R8906:Kif13a UTSW 13 46,927,154 (GRCm39) missense probably benign 0.17
R9028:Kif13a UTSW 13 46,951,841 (GRCm39) missense probably damaging 1.00
R9058:Kif13a UTSW 13 46,944,941 (GRCm39) missense probably damaging 1.00
R9062:Kif13a UTSW 13 46,941,536 (GRCm39) missense possibly damaging 0.91
R9070:Kif13a UTSW 13 46,905,934 (GRCm39) missense probably benign 0.00
R9083:Kif13a UTSW 13 46,966,263 (GRCm39) missense probably damaging 1.00
R9250:Kif13a UTSW 13 46,928,909 (GRCm39) missense probably damaging 1.00
R9328:Kif13a UTSW 13 46,951,838 (GRCm39) missense probably damaging 1.00
R9360:Kif13a UTSW 13 46,962,472 (GRCm39) missense probably benign 0.01
R9369:Kif13a UTSW 13 46,940,099 (GRCm39) missense probably damaging 0.99
R9589:Kif13a UTSW 13 46,956,020 (GRCm39) missense probably benign 0.01
R9749:Kif13a UTSW 13 46,914,227 (GRCm39) missense probably damaging 0.96
X0013:Kif13a UTSW 13 47,082,746 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- GAACTCTGTGAAGGAATGGTCC -3'
(R):5'- CAATGCCACTCTGTCTGACATG -3'

Sequencing Primer
(F):5'- CCTCCAAAATGTTTGTAGTGTGTTC -3'
(R):5'- ACTCTGTCTGACATGGCAGTC -3'
Posted On 2019-06-26