Incidental Mutation 'R9369:Kif13a'
ID 709229
Institutional Source Beutler Lab
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R9369 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 46902563-47083343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46940099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 989 (I989V)
Ref Sequence ENSEMBL: ENSMUSP00000055304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000223881] [ENSMUST00000225591]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000056978
AA Change: I989V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: I989V

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
Predicted Effect probably damaging
Transcript: ENSMUST00000223881
AA Change: I6V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000225591
AA Change: I926V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
9330159F19Rik T A 10: 29,100,974 (GRCm39) V449D probably damaging Het
Abca13 G T 11: 9,328,444 (GRCm39) V3506L probably damaging Het
Accs G A 2: 93,666,093 (GRCm39) Q498* probably null Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
C2cd2 T C 16: 97,723,333 (GRCm39) I61M possibly damaging Het
Cd22 T C 7: 30,576,999 (GRCm39) T103A probably benign Het
Cd55 A T 1: 130,375,187 (GRCm39) L150* probably null Het
Ces3b A G 8: 105,813,502 (GRCm39) S258G probably damaging Het
Cln6 A G 9: 62,754,431 (GRCm39) T158A probably damaging Het
Dnah7a T C 1: 53,543,421 (GRCm39) K2250E probably benign Het
Dnah7a T A 1: 53,564,222 (GRCm39) N1946Y possibly damaging Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Eps15 T A 4: 109,240,034 (GRCm39) D492E probably damaging Het
Ern1 A T 11: 106,305,259 (GRCm39) M377K probably benign Het
Esrrb A G 12: 86,517,102 (GRCm39) D78G probably damaging Het
Fat2 A T 11: 55,201,514 (GRCm39) M520K possibly damaging Het
Foxb1 A G 9: 69,666,930 (GRCm39) L200P probably damaging Het
Gli2 G T 1: 118,765,885 (GRCm39) N755K probably benign Het
Gnal A G 18: 67,324,439 (GRCm39) probably null Het
Gxylt1 A T 15: 93,172,896 (GRCm39) F23I possibly damaging Het
Hsd17b13 T A 5: 104,125,034 (GRCm39) R50W probably damaging Het
Htr5b G C 1: 121,455,482 (GRCm39) A146G possibly damaging Het
Ifi206 A G 1: 173,301,489 (GRCm39) F730L unknown Het
Ifrd2 C T 9: 107,467,802 (GRCm39) Q163* probably null Het
Ift88 A T 14: 57,685,137 (GRCm39) I318F probably benign Het
Ighv5-12 T A 12: 113,665,985 (GRCm39) K38* probably null Het
Il17rc T C 6: 113,449,641 (GRCm39) S112P probably benign Het
Itgb7 T C 15: 102,131,821 (GRCm39) N254S probably damaging Het
Jak2 T A 19: 29,266,203 (GRCm39) probably null Het
Jmjd8 A T 17: 26,048,686 (GRCm39) H100L unknown Het
Kcnh4 T C 11: 100,648,428 (GRCm39) E92G probably damaging Het
Kif5b A T 18: 6,223,584 (GRCm39) N308K probably damaging Het
Loxl3 A T 6: 83,027,393 (GRCm39) T683S probably benign Het
Macf1 C T 4: 123,349,150 (GRCm39) probably null Het
Met A G 6: 17,492,228 (GRCm39) K330R probably benign Het
Mideas A G 12: 84,219,670 (GRCm39) V428A probably benign Het
Mybl1 T C 1: 9,742,829 (GRCm39) E593G probably damaging Het
N4bp2 T G 5: 65,964,259 (GRCm39) D769E probably damaging Het
Or10ak13 T A 4: 118,639,077 (GRCm39) Q235L probably benign Het
Or10j3b A G 1: 173,043,451 (GRCm39) I78V possibly damaging Het
Or52ae7 A G 7: 103,119,555 (GRCm39) Y103C probably benign Het
Otoa C T 7: 120,744,840 (GRCm39) A866V probably benign Het
Pak4 A G 7: 28,260,240 (GRCm39) L492P probably damaging Het
Pctp A T 11: 89,876,938 (GRCm39) L187H probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Phf8-ps T G 17: 33,285,579 (GRCm39) T408P probably damaging Het
Pik3ap1 T G 19: 41,317,743 (GRCm39) D204A probably damaging Het
Pitrm1 T C 13: 6,603,280 (GRCm39) V110A probably benign Het
Prokr1 A T 6: 87,558,407 (GRCm39) V326E possibly damaging Het
Prrt2 T C 7: 126,619,343 (GRCm39) I41V probably benign Het
Psmb1 A G 17: 15,710,478 (GRCm39) Y24H probably damaging Het
Ptpdc1 C T 13: 48,736,722 (GRCm39) A683T possibly damaging Het
Ptprb A G 10: 116,151,057 (GRCm39) K240E probably benign Het
Ranbp2 T C 10: 58,316,486 (GRCm39) V2402A probably benign Het
Rictor T C 15: 6,773,848 (GRCm39) F79L probably benign Het
Ripk2 A C 4: 16,127,651 (GRCm39) S364A probably benign Het
S100a4 A T 3: 90,512,394 (GRCm39) K26* probably null Het
Shank1 A G 7: 44,001,478 (GRCm39) T1066A unknown Het
Slc9b2 A G 3: 135,036,446 (GRCm39) T417A probably benign Het
Slf2 C T 19: 44,923,953 (GRCm39) Q256* probably null Het
Smad5 T C 13: 56,885,242 (GRCm39) V450A possibly damaging Het
Smok3c A C 5: 138,063,770 (GRCm39) D419A probably damaging Het
Tdpoz4 A T 3: 93,703,741 (GRCm39) T13S probably damaging Het
Tdrd6 A T 17: 43,936,217 (GRCm39) N1610K probably damaging Het
Tex19.2 A G 11: 121,007,566 (GRCm39) L294P possibly damaging Het
Tex44 T C 1: 86,355,383 (GRCm39) W431R probably damaging Het
Tmcc1 A T 6: 116,111,050 (GRCm39) V77E probably benign Het
Tmed4 A T 11: 6,224,133 (GRCm39) M121K possibly damaging Het
Trit1 T C 4: 122,945,898 (GRCm39) V349A possibly damaging Het
Txndc15 C T 13: 55,869,507 (GRCm39) A220V probably benign Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ufd1 T C 16: 18,634,113 (GRCm39) probably null Het
Umps T C 16: 33,777,206 (GRCm39) N458S probably benign Het
Vmn2r24 A C 6: 123,792,357 (GRCm39) Q561H probably damaging Het
Vwce T G 19: 10,624,061 (GRCm39) S317R probably benign Het
Zfp7 TGCGGGAAAGGTTTCCACCTGAGCG TGCG 15: 76,774,800 (GRCm39) probably benign Het
Zfp977 A T 7: 42,229,518 (GRCm39) F336I probably damaging Het
Zranb3 A T 1: 127,887,828 (GRCm39) D866E 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
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
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'- ACTGAGCAAGCAGGCTGAC -3'
(R):5'- GAAGGAACCTGCGAGGCATC -3'

Sequencing Primer
(F):5'- CACCAAAGAATTGTTCGCCGTTG -3'
(R):5'- CTGCGAGGCATCCCTGG -3'
Posted On 2022-04-18