Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Kif13a'

390731

Institutional Source

Beutler Lab

Gene Symbol

Kif13a

Ensembl Gene

ENSMUSG00000021375

Gene Name

kinesin family member 13A

Synonyms

4930505I07Rik, N-3 kinesin

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

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

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46902563-47083343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46956122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 561 (Y561H)

Ref Sequence

ENSEMBL: ENSMUSP00000153614 (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: Y624H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: Y624H

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 damaging
Transcript: ENSMUST00000225591
AA Change: Y561H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.2294

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,837,315 (GRCm39)	Y257H	probably damaging	Het
Adam28	C	T	14: 68,855,164 (GRCm39)	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 26,991,732 (GRCm39)	E627K	probably damaging	Het
Atad5	T	A	11: 79,985,502 (GRCm39)	S196R	probably benign	Het
Bcam	T	A	7: 19,490,785 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,962,320 (GRCm39)	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,804,471 (GRCm39)	I190V	probably benign	Het
Ccdc8	T	C	7: 16,728,970 (GRCm39)	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,540,529 (GRCm39)	R68G	probably damaging	Het
Dock3	T	C	9: 106,815,105 (GRCm39)	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007 (GRCm39)	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,700,318 (GRCm39)	V271L	possibly damaging	Het
Eif1ad15	T	C	12: 88,288,071 (GRCm39)	I61V	probably benign	Het
Eif2s2	A	C	2: 154,734,590 (GRCm39)		probably null	Het
Fndc7	A	G	3: 108,788,663 (GRCm39)	S193P	probably damaging	Het
Fzr1	G	A	10: 81,207,253 (GRCm39)		probably benign	Het
Gm17472	T	C	6: 42,957,938 (GRCm39)	I69T	probably damaging	Het
Gmppa	C	A	1: 75,416,015 (GRCm39)	Y137*	probably null	Het
Gpr45	A	G	1: 43,071,809 (GRCm39)	I151V	probably benign	Het
H1f0	G	A	15: 78,912,973 (GRCm39)	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,491,063 (GRCm39)	V114I	probably benign	Het
Impa2	C	A	18: 67,439,797 (GRCm39)	P98Q	probably damaging	Het
Kazn	T	C	4: 141,835,957 (GRCm39)	N573D	unknown	Het
Kcna2	A	T	3: 107,011,656 (GRCm39)	D79V	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klra1	T	A	6: 130,352,247 (GRCm39)	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,570,869 (GRCm39)	R318S	probably damaging	Het
Mgat4d	G	A	8: 84,094,837 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,641,312 (GRCm39)		probably null	Het
Nostrin	A	T	2: 69,006,057 (GRCm39)	Q247L	possibly damaging	Het
Obi1	C	T	14: 104,745,466 (GRCm39)	G70E	probably damaging	Het
Obscn	T	C	11: 58,964,443 (GRCm39)	E3033G	probably damaging	Het
Pam	C	A	1: 97,749,642 (GRCm39)	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,795,157 (GRCm39)	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337 (GRCm39)	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ptar1	G	T	19: 23,671,729 (GRCm39)	R44L	probably damaging	Het
Rad51c	T	C	11: 87,288,580 (GRCm39)	H201R	probably benign	Het
Rims2	A	T	15: 39,381,265 (GRCm39)		probably null	Het
Rpl22l1	T	G	3: 28,860,985 (GRCm39)	S67A	possibly damaging	Het
Rps10	A	G	17: 27,849,454 (GRCm39)	S143P	probably damaging	Het
Rundc1	T	C	11: 101,315,967 (GRCm39)	V13A	probably benign	Het
Sephs2	C	A	7: 126,872,564 (GRCm39)	M176I	probably benign	Het
Serpina16	C	T	12: 103,641,189 (GRCm39)	V179I	probably benign	Het
Serpini2	T	A	3: 75,166,784 (GRCm39)	T158S	probably damaging	Het
Slc12a3	A	G	8: 95,072,979 (GRCm39)	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,650,436 (GRCm39)	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,136,672 (GRCm39)		probably benign	Het
Tbr1	A	T	2: 61,636,346 (GRCm39)	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,247,064 (GRCm39)		probably null	Het
Tlr12	T	A	4: 128,511,063 (GRCm39)	K396*	probably null	Het
Tmppe	A	G	9: 114,235,026 (GRCm39)	I442V	probably benign	Het
Tubb3	T	C	8: 124,147,607 (GRCm39)	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,416,901 (GRCm39)	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,671,708 (GRCm39)	V482L	possibly damaging	Het
Zfp184	G	T	13: 22,143,452 (GRCm39)	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,192,792 (GRCm39)	V270E	probably damaging	Het
Zfp985	A	T	4: 147,667,438 (GRCm39)	Y102F	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAAGAGCCAAACTAGATCCGGG -3'
(R):5'- GCAGGACATGTTTCTTCCTGG -3'

Sequencing Primer
(F):5'- TTCACAGGCCTCTCCAGG -3'
(R):5'- TCTTCCTGGAAGAGGCCC -3'

Posted On

2016-06-06