Incidental Mutation 'R8871:Kif13a'
ID 676310
Institutional Source Beutler Lab
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
MMRRC Submission 068685-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R8871 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 46902563-47083343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46984279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 162 (D162G)
Ref Sequence ENSEMBL: ENSMUSP00000055304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000225591]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000056978
AA Change: D162G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: D162G

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 probably damaging
Transcript: ENSMUST00000225591
AA Change: D99G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency 99% (76/77)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,248,071 (GRCm39) M2606R probably benign Het
Abcg5 C T 17: 84,990,295 (GRCm39) E3K probably benign Het
Adam20 A C 8: 41,248,601 (GRCm39) H237P probably damaging Het
Alg3 T C 16: 20,424,684 (GRCm39) Y361C probably damaging Het
Ano8 A T 8: 71,931,944 (GRCm39) Y752N probably benign Het
AW551984 A T 9: 39,500,998 (GRCm39) L759* probably null Het
Bdp1 A C 13: 100,186,175 (GRCm39) V1759G probably damaging Het
Bicdl2 C A 17: 23,885,777 (GRCm39) Q273K probably damaging Het
Cc2d2a A T 5: 43,857,285 (GRCm39) T491S possibly damaging Het
Cdkl2 A G 5: 92,164,989 (GRCm39) S545P possibly damaging Het
Ceacam5 T A 7: 17,494,827 (GRCm39) I945K probably benign Het
Celf1 A G 2: 90,840,840 (GRCm39) Y369C probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Col14a1 T G 15: 55,245,958 (GRCm39) D487E unknown Het
Crybg3 T C 16: 59,378,519 (GRCm39) N912D probably benign Het
Cstl1 A G 2: 148,596,554 (GRCm39) T86A probably damaging Het
Dixdc1 C T 9: 50,595,096 (GRCm39) V482M possibly damaging Het
Dmbt1 T C 7: 130,718,597 (GRCm39) Y1773H unknown Het
Dock4 T C 12: 40,795,730 (GRCm39) I849T probably benign Het
Fbln2 A T 6: 91,233,215 (GRCm39) probably null Het
Fbxo16 A G 14: 65,531,348 (GRCm39) E84G probably damaging Het
Fras1 T A 5: 96,855,257 (GRCm39) V1922D probably benign Het
G6pc3 A G 11: 102,082,896 (GRCm39) H85R probably damaging Het
Galc A T 12: 98,212,543 (GRCm39) N197K probably damaging Het
Galnt12 T G 4: 47,108,582 (GRCm39) probably null Het
Gm10220 T A 5: 26,322,863 (GRCm39) Q183L probably benign Het
Gxylt2 A G 6: 100,760,109 (GRCm39) T215A probably damaging Het
Hnrnpf T G 6: 117,900,811 (GRCm39) S32A probably benign Het
Hspa1l T C 17: 35,197,799 (GRCm39) Y613H probably benign Het
Il1r2 T A 1: 40,144,424 (GRCm39) V37D probably benign Het
Itga11 C A 9: 62,668,823 (GRCm39) Y693* probably null Het
Itgax T A 7: 127,735,223 (GRCm39) F459L probably damaging Het
Jph1 A G 1: 17,067,719 (GRCm39) V656A possibly damaging Het
Kcnn4 A T 7: 24,083,500 (GRCm39) I394F possibly damaging Het
Kdelr3 T A 15: 79,410,044 (GRCm39) Y176* probably null Het
Klhdc8b G A 9: 108,326,871 (GRCm39) P164S probably damaging Het
Lmbrd1 A T 1: 24,783,435 (GRCm39) Q357L probably damaging Het
Lrrc37a T C 11: 103,347,375 (GRCm39) M3107V unknown Het
Mllt3 ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT 4: 87,759,552 (GRCm39) probably benign Het
Muc16 C A 9: 18,567,344 (GRCm39) G1725V unknown Het
Myo5c T C 9: 75,185,585 (GRCm39) S983P probably benign Het
Naip1 G A 13: 100,580,146 (GRCm39) H217Y probably damaging Het
Nlrc3 T C 16: 3,781,968 (GRCm39) probably benign Het
Nrl A T 14: 55,758,184 (GRCm39) L181Q probably damaging Het
Olig1 T C 16: 91,067,545 (GRCm39) *261R probably null Het
Or12k5 T C 2: 36,895,060 (GRCm39) T189A probably benign Het
Or2l13b T C 16: 19,349,536 (GRCm39) I45V Het
Or8j3c T C 2: 86,253,697 (GRCm39) M108V probably benign Het
Oscp1 T A 4: 125,952,535 (GRCm39) L21Q probably damaging Het
Oxct1 G A 15: 4,064,763 (GRCm39) V34I probably benign Het
Pdzph1 A G 17: 59,195,033 (GRCm39) L1074P probably damaging Het
Pkd1l1 T A 11: 8,900,503 (GRCm39) S463C Het
Pnpla3 G A 15: 84,063,509 (GRCm39) E296K probably benign Het
Prss35 T G 9: 86,637,244 (GRCm39) L5V possibly damaging Het
Rbck1 T C 2: 152,164,096 (GRCm39) E336G possibly damaging Het
Rgl2 G A 17: 34,153,974 (GRCm39) R460Q probably damaging Het
Rmi1 T A 13: 58,557,156 (GRCm39) N468K probably benign Het
Rptor T A 11: 119,494,751 (GRCm39) I39N probably benign Het
S1pr1 A G 3: 115,505,628 (GRCm39) F322S probably damaging Het
Scgb1b10 T A 7: 31,800,544 (GRCm39) Y44* probably null Het
Setx A G 2: 29,038,114 (GRCm39) D1533G probably benign Het
Sf3b1 A G 1: 55,029,508 (GRCm39) Y1165H probably damaging Het
Sgcz A T 8: 38,420,103 (GRCm39) Y50N probably damaging Het
Sh3gl2 C A 4: 85,305,817 (GRCm39) P227Q Het
She T C 3: 89,759,795 (GRCm39) probably null Het
Slc9a4 T C 1: 40,642,015 (GRCm39) I328T probably damaging Het
Sort1 G A 3: 108,262,887 (GRCm39) probably null Het
Srebf1 A G 11: 60,091,595 (GRCm39) S977P probably benign Het
Srsf9 T C 5: 115,468,712 (GRCm39) V116A probably damaging Het
Tex15 G A 8: 34,066,992 (GRCm39) V2141I possibly damaging Het
Tmprss13 A T 9: 45,249,704 (GRCm39) H347L probably damaging Het
Trpv4 A G 5: 114,768,511 (GRCm39) F519S probably benign Het
Trrap A G 5: 144,758,649 (GRCm39) T2159A probably benign Het
Vmn1r36 A T 6: 66,693,442 (GRCm39) Y144* probably null Het
Vmn2r10 A G 5: 109,146,899 (GRCm39) I463T possibly damaging Het
Vps13a T A 19: 16,641,186 (GRCm39) N2312I probably damaging Het
Wdr81 A T 11: 75,343,919 (GRCm39) Y449* probably null Het
Zfhx3 A G 8: 109,676,867 (GRCm39) D2639G possibly damaging Het
Zfp120 A G 2: 149,959,995 (GRCm39) V131A probably benign Het
Zfp574 G T 7: 24,780,562 (GRCm39) C528F probably damaging Het
Zfp947 A T 17: 22,364,695 (GRCm39) N326K 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
R7285:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
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
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'- CATCGGAACAGTGACCAATGG -3'
(R):5'- CAGGTTCTGGAAAGTCCTTTTC -3'

Sequencing Primer
(F):5'- CTCAGCTGTTAAGAGCACTGACTG -3'
(R):5'- GAAAGTCCTTTTCCATGATGGGCC -3'
Posted On 2021-07-15