Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02407:Kif13a'

292101

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

Essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

IGL02407

Quality Score

Status

Chromosome

Chromosomal Location

46902563-47083343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46938769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 76 (V76M)

Ref Sequence

ENSEMBL: ENSMUSP00000153657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000223881] [ENSMUST00000225591]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056978
AA Change: V1059M

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: V1059M

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000223856

Predicted Effect

probably damaging
Transcript: ENSMUST00000223881
AA Change: V76M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

unknown
Transcript: ENSMUST00000224756
AA Change: V167M

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225591
AA Change: V996M

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225904

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,645,575 (GRCm39)	W1040*	probably null	Het
Adgrv1	C	A	13: 81,627,789 (GRCm39)	A3691S	probably damaging	Het
Als2cl	T	A	9: 110,718,295 (GRCm39)	Y345*	probably null	Het
Aplp2	A	T	9: 31,069,823 (GRCm39)	Y496*	probably null	Het
Ash1l	T	C	3: 88,979,855 (GRCm39)	V2793A	probably damaging	Het
Bfsp1	A	T	2: 143,668,853 (GRCm39)	D575E	probably benign	Het
Ceacam20	G	T	7: 19,704,332 (GRCm39)	V128F	probably benign	Het
Cers4	A	T	8: 4,570,306 (GRCm39)	K204*	probably null	Het
Cog1	T	C	11: 113,544,852 (GRCm39)	Y345H	probably benign	Het
Col14a1	T	C	15: 55,312,272 (GRCm39)		probably benign	Het
Col19a1	A	T	1: 24,351,453 (GRCm39)		probably null	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Cyp3a16	A	T	5: 145,388,652 (GRCm39)	M275K	probably damaging	Het
Degs2	T	G	12: 108,658,254 (GRCm39)	T242P	probably damaging	Het
Elac2	T	C	11: 64,890,001 (GRCm39)	V612A	probably benign	Het
Elovl6	T	A	3: 129,398,733 (GRCm39)	F45I	probably damaging	Het
Exoc1	A	C	5: 76,693,193 (GRCm39)	N360H	probably damaging	Het
Fam221b	A	T	4: 43,666,309 (GRCm39)	S101T	possibly damaging	Het
Garre1	A	T	7: 33,955,909 (GRCm39)	N393K	probably damaging	Het
Glyr1	A	G	16: 4,854,812 (GRCm39)	F89L	probably benign	Het
Herc4	C	A	10: 63,142,203 (GRCm39)	T668K	probably damaging	Het
Hibadh	C	T	6: 52,525,874 (GRCm39)	V259I	possibly damaging	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Ift80	G	T	3: 68,805,869 (GRCm39)	D724E	probably benign	Het
Igkv3-10	T	C	6: 70,550,223 (GRCm39)		probably benign	Het
Irf9	G	T	14: 55,842,678 (GRCm39)	A75S	possibly damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Lgals8	A	G	13: 12,469,699 (GRCm39)	W87R	probably benign	Het
Mccc2	G	A	13: 100,127,816 (GRCm39)	P96L	probably damaging	Het
Megf11	A	C	9: 64,587,531 (GRCm39)	D443A	probably damaging	Het
Nckap5l	T	C	15: 99,321,008 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,281 (GRCm39)	V230A	probably benign	Het
Nif3l1	G	T	1: 58,496,956 (GRCm39)	V294L	possibly damaging	Het
Or4k39	T	A	2: 111,238,923 (GRCm39)		noncoding transcript	Het
Pcdhb13	T	A	18: 37,576,128 (GRCm39)	Y169N	probably damaging	Het
Peg3	A	G	7: 6,710,635 (GRCm39)	I1529T	probably damaging	Het
Piezo2	T	A	18: 63,279,915 (GRCm39)	I219F	probably damaging	Het
Prpf38a	G	A	4: 108,424,836 (GRCm39)	R242W	unknown	Het
Prrc2a	A	T	17: 35,379,480 (GRCm39)	D255E	unknown	Het
Rapgef6	G	T	11: 54,567,181 (GRCm39)	D1121Y	possibly damaging	Het
Ryr3	T	A	2: 112,585,303 (GRCm39)	H2761L	probably damaging	Het
Sel1l	A	T	12: 91,810,042 (GRCm39)		probably benign	Het
Slc30a9	A	G	5: 67,510,065 (GRCm39)	D539G	probably damaging	Het
Slc38a9	A	G	13: 112,826,777 (GRCm39)	S172G	probably benign	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Smurf1	A	T	5: 144,821,534 (GRCm39)	M496K	probably damaging	Het
Srgap2	A	T	1: 131,247,340 (GRCm39)	V564D	probably damaging	Het
Stk32a	T	C	18: 43,430,576 (GRCm39)	I162T	probably benign	Het
Tchhl1	A	T	3: 93,378,634 (GRCm39)	N446I	possibly damaging	Het
Tmem64	T	A	4: 15,266,584 (GRCm39)	H211Q	probably damaging	Het
Trim3	T	C	7: 105,262,218 (GRCm39)	N586S	probably benign	Het
Trpm1	A	G	7: 63,868,869 (GRCm39)	E507G	probably damaging	Het
Tyk2	G	T	9: 21,020,523 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,365,316 (GRCm39)	K310*	probably null	Het
Unc13a	T	A	8: 72,101,586 (GRCm39)	N1022Y	probably damaging	Het
Vmn1r172	A	T	7: 23,359,228 (GRCm39)	N38Y	probably damaging	Het
Vmn2r100	A	T	17: 19,741,770 (GRCm39)	I161F	probably damaging	Het
Zcchc17	A	G	4: 130,243,108 (GRCm39)	M25T	probably benign	Het
Zfp563	G	A	17: 33,323,795 (GRCm39)	R130Q	probably benign	Het
Zhx2	A	G	15: 57,686,802 (GRCm39)	S724G	probably benign	Het

Other mutations in Kif13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16