Mutagenetix > Incidental Mutation

Incidental Mutation 'R1541:Kif13a'

171757

Institutional Source

Beutler Lab

Gene Symbol

Kif13a

Ensembl Gene

ENSMUSG00000021375

Gene Name

kinesin family member 13A

Synonyms

4930505I07Rik, N-3 kinesin

MMRRC Submission

039580-MU

Accession Numbers

Essential gene?

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

Stock #

R1541 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46902563-47083343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46962689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 459 (T459A)

Ref Sequence

ENSEMBL: ENSMUSP00000153614 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056978
AA Change: T522A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: T522A

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: ENSMUST00000225591
AA Change: T459A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	A	G	14: 103,286,769 (GRCm39)	D24G	probably damaging	Het
Angptl2	G	A	2: 33,136,177 (GRCm39)	R454H	probably benign	Het
Atat1	T	A	17: 36,215,223 (GRCm39)	N181I	probably damaging	Het
Atp6v0d2	A	C	4: 19,910,645 (GRCm39)	F82V	probably damaging	Het
Calhm4	T	C	10: 33,917,659 (GRCm39)	H264R	probably benign	Het
Casp3	A	G	8: 47,087,369 (GRCm39)	I105M	probably benign	Het
Ccdc33	T	A	9: 58,024,749 (GRCm39)	D159V	probably damaging	Het
Cd163	A	C	6: 124,304,920 (GRCm39)	D1099A	probably benign	Het
Cep128	A	T	12: 91,315,555 (GRCm39)	S110R	probably damaging	Het
Cfap43	A	T	19: 47,752,291 (GRCm39)		probably null	Het
Cfap58	T	C	19: 47,971,969 (GRCm39)	I633T	probably damaging	Het
Clvs1	A	G	4: 9,281,814 (GRCm39)	H86R	probably benign	Het
Comt	T	C	16: 18,230,565 (GRCm39)	K48R	probably benign	Het
Crip2	T	C	12: 113,108,586 (GRCm39)	V64A	possibly damaging	Het
Cstdc5	T	A	16: 36,187,863 (GRCm39)	M1L	probably damaging	Het
Cwf19l2	T	A	9: 3,456,760 (GRCm39)	S698T	probably damaging	Het
Dis3l	T	C	9: 64,214,771 (GRCm39)	I933V	probably benign	Het
Dnah8	C	A	17: 30,966,221 (GRCm39)	N2470K	probably damaging	Het
Dstn	T	C	2: 143,780,408 (GRCm39)	V36A	possibly damaging	Het
Dtx1	T	A	5: 120,848,411 (GRCm39)		probably benign	Het
Dzip1	G	A	14: 119,116,890 (GRCm39)	S782L	probably damaging	Het
Ece1	T	A	4: 137,675,971 (GRCm39)		probably null	Het
Erich1	A	G	8: 14,080,688 (GRCm39)	I277T	probably damaging	Het
Gbp4	T	A	5: 105,266,275 (GRCm39)	M589L	probably benign	Het
Grip1	T	C	10: 119,836,448 (GRCm39)	I440T	probably damaging	Het
Helz	C	T	11: 107,560,874 (GRCm39)	S1311L	probably benign	Het
Herc2	A	T	7: 55,785,405 (GRCm39)	I1552F	probably damaging	Het
Knop1	G	A	7: 118,455,009 (GRCm39)		probably benign	Het
Llgl2	C	A	11: 115,743,947 (GRCm39)	T758K	probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc71	T	C	3: 87,649,148 (GRCm39)	D340G	possibly damaging	Het
Luzp1	A	G	4: 136,270,636 (GRCm39)	D953G	probably damaging	Het
Mst1r	T	C	9: 107,794,562 (GRCm39)	V1247A	probably damaging	Het
Ncoa4	A	T	14: 31,898,845 (GRCm39)	K555M	probably damaging	Het
Ncoa6	A	T	2: 155,257,224 (GRCm39)	L773Q	probably benign	Het
Ndc1	C	T	4: 107,228,485 (GRCm39)	Q70*	probably null	Het
Nfe2l3	C	T	6: 51,434,585 (GRCm39)	L382F	probably damaging	Het
Nlrp4b	C	A	7: 10,458,979 (GRCm39)	T399N	possibly damaging	Het
Nsmce2	T	A	15: 59,473,234 (GRCm39)	D250E	probably damaging	Het
Nudt14	A	T	12: 112,898,548 (GRCm39)	L184Q	probably damaging	Het
Ogdhl	G	A	14: 32,062,624 (GRCm39)	R570H	possibly damaging	Het
Or5p56	T	C	7: 107,590,048 (GRCm39)	F159L	probably benign	Het
Pira13	T	C	7: 3,819,988 (GRCm39)	D525G	probably damaging	Het
Plag1	A	G	4: 3,904,085 (GRCm39)	S369P	probably benign	Het
Ranbp2	A	T	10: 58,318,916 (GRCm39)	T2476S	possibly damaging	Het
Rnmt	T	C	18: 68,440,853 (GRCm39)	L172P	probably damaging	Het
Sec24a	T	A	11: 51,634,623 (GRCm39)	H101L	probably benign	Het
Sirpd	T	A	3: 15,385,744 (GRCm39)	T53S	possibly damaging	Het
Srm	A	G	4: 148,677,881 (GRCm39)	D173G	probably damaging	Het
Srp54b	A	G	12: 55,302,844 (GRCm39)	D380G	probably benign	Het
Svs5	C	T	2: 164,078,929 (GRCm39)	R326Q	possibly damaging	Het
Tent4b	T	C	8: 88,972,227 (GRCm39)	V222A	probably damaging	Het
Tfap2b	C	T	1: 19,304,294 (GRCm39)	T350M	probably damaging	Het
Tie1	A	T	4: 118,341,070 (GRCm39)	C304S	probably damaging	Het
Tsc2	G	T	17: 24,850,950 (GRCm39)	T36N	probably damaging	Het
Wdhd1	A	T	14: 47,505,649 (GRCm39)	Y274*	probably null	Het
Wdr37	T	C	13: 8,870,574 (GRCm39)	T373A	probably benign	Het
Xirp2	A	T	2: 67,342,634 (GRCm39)	N1625I	possibly damaging	Het
Ythdf1	A	C	2: 180,560,936 (GRCm39)	S35A	probably damaging	Het
Zfp462	A	G	4: 55,008,928 (GRCm39)	N298S	possibly damaging	Het
Zfp541	T	A	7: 15,812,437 (GRCm39)	D363E	probably benign	Het
Zgpat	A	G	2: 181,020,658 (GRCm39)	D277G	probably benign	Het
Znfx1	A	T	2: 166,898,110 (GRCm39)	N271K	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
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

Predicted Primers

PCR Primer
(F):5'- AAGTCTTTCAACCAGTCCCGCC -3'
(R):5'- CATTAGAAACACACAGAGTTGGGGACC -3'

Sequencing Primer
(F):5'- GCCGTTTCCTCTTAGGCAAG -3'
(R):5'- TGGGGACCCCTCTTTGAG -3'

Posted On

2014-04-13