Incidental Mutation 'IGL03038:Kif13a'
ID 408784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.351) question?
Stock # IGL03038
Quality Score
Status
Chromosome 13
Chromosomal Location 46749087-46929867 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46772838 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 264 (L264P)
Ref Sequence ENSEMBL: ENSMUSP00000153657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000223881]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000056978
AA Change: L1247P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: L1247P

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: ENSMUST00000223881
AA Change: L264P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,428,456 Y111H probably damaging Het
Arhgef6 C T X: 57,245,606 V262I probably benign Het
Arsk C A 13: 76,065,513 probably benign Het
Ces1b T C 8: 93,067,052 E303G probably benign Het
Chst9 T C 18: 15,495,303 Q55R probably benign Het
Cntnap3 A T 13: 64,741,025 D1153E possibly damaging Het
D130043K22Rik A G 13: 24,879,619 E681G probably damaging Het
Fhad1 T C 4: 142,002,494 E66G probably benign Het
Flii T C 11: 60,724,832 T69A probably benign Het
Foxl1 A C 8: 121,128,419 E153A probably damaging Het
Gstm3 T C 3: 107,966,169 D162G possibly damaging Het
Gtpbp3 G A 8: 71,489,303 V96I possibly damaging Het
Insig2 G A 1: 121,319,674 T56I probably damaging Het
Lama3 T G 18: 12,419,250 C420G probably damaging Het
Lrp2 C T 2: 69,475,464 G2918S probably damaging Het
Lrrc8b T C 5: 105,481,492 L568P probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Malrd1 G A 2: 16,127,967 D1900N unknown Het
Mastl C A 2: 23,140,615 probably benign Het
Med24 T G 11: 98,716,184 T276P possibly damaging Het
Naip1 A C 13: 100,437,333 Y239* probably null Het
Nhsl2 A G X: 102,078,885 K765E probably damaging Het
Npy A G 6: 49,823,608 N4S probably benign Het
Nsun2 A G 13: 69,619,584 D188G probably damaging Het
Olfr794 A G 10: 129,570,921 T89A probably benign Het
Pde1a C A 2: 79,887,946 probably benign Het
Pik3cb G A 9: 99,065,597 A509V probably damaging Het
Pou2f2 C T 7: 25,097,152 S315N probably damaging Het
Prdm2 A C 4: 143,134,001 S906R probably damaging Het
Prkaca C A 8: 83,994,951 Q300K probably benign Het
Prox2 T C 12: 85,095,264 D55G possibly damaging Het
Ryr3 T A 2: 112,668,120 T3612S possibly damaging Het
S1pr1 T A 3: 115,712,694 I84L possibly damaging Het
Slc47a1 C T 11: 61,353,092 V384M probably benign Het
Slc6a20b T C 9: 123,597,329 N497S possibly damaging Het
Spen C A 4: 141,538,239 R3L unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Ttll6 T C 11: 96,151,960 F444S probably damaging Het
Vwce T A 19: 10,646,671 Y309N possibly damaging Het
Vwf T C 6: 125,604,157 L586P possibly damaging Het
Wdr35 T C 12: 8,974,185 probably benign Het
Other mutations in Kif13a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Kif13a APN 13 46750634 splice site probably benign
IGL01433:Kif13a APN 13 46772908 missense probably damaging 1.00
IGL01528:Kif13a APN 13 46864837 splice site probably benign
IGL01536:Kif13a APN 13 46752289 missense probably damaging 0.96
IGL01620:Kif13a APN 13 46864820 missense probably benign
IGL02020:Kif13a APN 13 46794019 missense probably benign 0.05
IGL02142:Kif13a APN 13 46771535 missense probably benign 0.04
IGL02375:Kif13a APN 13 46825222 missense probably damaging 1.00
IGL02407:Kif13a APN 13 46785293 missense probably damaging 0.99
IGL02476:Kif13a APN 13 46785296 missense probably damaging 1.00
IGL03053:Kif13a APN 13 46752088 missense probably benign 0.01
IGL03366:Kif13a APN 13 46764623 missense probably benign 0.00
R0025:Kif13a UTSW 13 46786511 critical splice donor site probably null
R0106:Kif13a UTSW 13 46825347 splice site probably benign
R0106:Kif13a UTSW 13 46825347 splice site probably benign
R0135:Kif13a UTSW 13 46793943 missense probably damaging 0.99
R0137:Kif13a UTSW 13 46764603 missense probably benign 0.38
R0243:Kif13a UTSW 13 46791351 missense probably benign 0.24
R0346:Kif13a UTSW 13 46814219 missense possibly damaging 0.95
R0403:Kif13a UTSW 13 46791401 missense probably damaging 1.00
R0492:Kif13a UTSW 13 46812742 missense possibly damaging 0.93
R0607:Kif13a UTSW 13 46802711 missense probably damaging 0.96
R0631:Kif13a UTSW 13 46778888 unclassified probably benign
R0654:Kif13a UTSW 13 46812742 missense possibly damaging 0.93
R0697:Kif13a UTSW 13 46848337 missense probably benign 0.19
R0699:Kif13a UTSW 13 46799213 missense possibly damaging 0.92
R0715:Kif13a UTSW 13 46812823 missense probably damaging 0.98
R0834:Kif13a UTSW 13 46814236 missense probably damaging 0.96
R0903:Kif13a UTSW 13 46929259 missense possibly damaging 0.75
R1419:Kif13a UTSW 13 46825235 missense probably damaging 1.00
R1428:Kif13a UTSW 13 46791511 splice site probably benign
R1449:Kif13a UTSW 13 46812736 missense probably damaging 1.00
R1463:Kif13a UTSW 13 46929612 missense possibly damaging 0.75
R1541:Kif13a UTSW 13 46809213 missense probably benign
R1579:Kif13a UTSW 13 46752856 missense possibly damaging 0.93
R1582:Kif13a UTSW 13 46793922 missense probably benign 0.03
R1644:Kif13a UTSW 13 46793922 missense probably benign 0.31
R1752:Kif13a UTSW 13 46798409 missense probably damaging 1.00
R1755:Kif13a UTSW 13 46752613 missense possibly damaging 0.73
R1755:Kif13a UTSW 13 46773678 missense possibly damaging 0.50
R1858:Kif13a UTSW 13 46864838 splice site probably benign
R1891:Kif13a UTSW 13 46929219 missense possibly damaging 0.63
R1902:Kif13a UTSW 13 46788162 missense probably benign 0.00
R1928:Kif13a UTSW 13 46812745 missense probably damaging 1.00
R1960:Kif13a UTSW 13 46864838 splice site probably benign
R1961:Kif13a UTSW 13 46864838 splice site probably benign
R2016:Kif13a UTSW 13 46810799 missense probably benign 0.13
R2139:Kif13a UTSW 13 46752469 missense possibly damaging 0.92
R2174:Kif13a UTSW 13 46769176 missense probably damaging 0.99
R2407:Kif13a UTSW 13 46777097 missense probably damaging 1.00
R2504:Kif13a UTSW 13 46814200 missense probably damaging 1.00
R3122:Kif13a UTSW 13 46764596 splice site probably benign
R3499:Kif13a UTSW 13 46825339 missense probably damaging 1.00
R3905:Kif13a UTSW 13 46802690 missense probably damaging 1.00
R4474:Kif13a UTSW 13 46814155 splice site probably null
R4771:Kif13a UTSW 13 46825211 missense probably damaging 1.00
R4838:Kif13a UTSW 13 46826748 missense probably damaging 1.00
R4924:Kif13a UTSW 13 46929599 missense probably damaging 1.00
R4931:Kif13a UTSW 13 46809055 missense probably damaging 0.96
R4980:Kif13a UTSW 13 46752746 missense possibly damaging 0.76
R4992:Kif13a UTSW 13 46777163 missense probably damaging 0.96
R5047:Kif13a UTSW 13 46788085 missense probably benign 0.00
R5054:Kif13a UTSW 13 46802646 missense probably damaging 1.00
R5141:Kif13a UTSW 13 46752721 missense probably benign
R5329:Kif13a UTSW 13 46775401 critical splice donor site probably null
R5429:Kif13a UTSW 13 46772769 critical splice donor site probably null
R5499:Kif13a UTSW 13 46832736 missense probably damaging 1.00
R5509:Kif13a UTSW 13 46752115 missense probably benign 0.13
R5594:Kif13a UTSW 13 46752862 missense probably damaging 1.00
R5921:Kif13a UTSW 13 46825300 missense probably damaging 1.00
R5964:Kif13a UTSW 13 46771524 missense probably damaging 1.00
R6115:Kif13a UTSW 13 46801313 missense probably damaging 1.00
R6317:Kif13a UTSW 13 46826757 missense probably damaging 1.00
R6318:Kif13a UTSW 13 46815207 splice site probably null
R6393:Kif13a UTSW 13 46752455 missense possibly damaging 0.95
R6394:Kif13a UTSW 13 46752455 missense possibly damaging 0.95
R6395:Kif13a UTSW 13 46752455 missense possibly damaging 0.95
R6735:Kif13a UTSW 13 46752746 missense possibly damaging 0.76
R7037:Kif13a UTSW 13 46752455 missense possibly damaging 0.95
R7038:Kif13a UTSW 13 46752455 missense possibly damaging 0.95
R7039:Kif13a UTSW 13 46752455 missense possibly damaging 0.95
R7237:Kif13a UTSW 13 46809156 critical splice donor site probably null
R7285:Kif13a UTSW 13 46752455 missense possibly damaging 0.95
R7286:Kif13a UTSW 13 46752455 missense possibly damaging 0.95
R7287:Kif13a UTSW 13 46752455 missense possibly damaging 0.95
R7341:Kif13a UTSW 13 46826745 missense probably damaging 1.00
R7693:Kif13a UTSW 13 46750613 missense probably benign 0.01
R7761:Kif13a UTSW 13 46798479 missense probably benign
R8098:Kif13a UTSW 13 46815304 missense probably damaging 1.00
R8171:Kif13a UTSW 13 46778968 missense probably damaging 1.00
R8271:Kif13a UTSW 13 46752581 missense probably benign 0.01
R8806:Kif13a UTSW 13 46761337 missense possibly damaging 0.49
R8871:Kif13a UTSW 13 46830803 missense probably damaging 1.00
R8877:Kif13a UTSW 13 46801445 critical splice acceptor site probably null
R8906:Kif13a UTSW 13 46773678 missense probably benign 0.17
R9028:Kif13a UTSW 13 46798365 missense probably damaging 1.00
R9058:Kif13a UTSW 13 46791465 missense probably damaging 1.00
R9062:Kif13a UTSW 13 46788060 missense possibly damaging 0.91
R9070:Kif13a UTSW 13 46752458 missense probably benign 0.00
R9083:Kif13a UTSW 13 46812787 missense probably damaging 1.00
R9250:Kif13a UTSW 13 46775433 missense probably damaging 1.00
R9328:Kif13a UTSW 13 46798362 missense probably damaging 1.00
R9360:Kif13a UTSW 13 46808996 missense probably benign 0.01
R9369:Kif13a UTSW 13 46786623 missense probably damaging 0.99
X0013:Kif13a UTSW 13 46929270 missense possibly damaging 0.49
Posted On 2016-08-02