Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02142:Kif13a'

281627

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: 0.264) question?

Stock #

IGL02142

Quality Score

Status

Chromosome

Chromosomal Location

46902563-47083343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46925011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 308 (T308A)

Ref Sequence

ENSEMBL: ENSMUSP00000153657 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056978
AA Change: T1291A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: T1291A

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

noncoding transcript
Transcript: ENSMUST00000082624

Predicted Effect

probably benign
Transcript: ENSMUST00000223881
AA Change: T308A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,963,575 (GRCm39)	S2060P	probably benign	Het
Abcg4	A	G	9: 44,189,014 (GRCm39)	F426S	probably benign	Het
Actn1	C	T	12: 80,222,929 (GRCm39)		probably null	Het
Adgrd1	T	A	5: 129,208,648 (GRCm39)	H251Q	probably benign	Het
Adgrg3	C	T	8: 95,766,483 (GRCm39)	P385S	probably damaging	Het
Ampd2	G	T	3: 107,987,660 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,155,360 (GRCm39)	S86P	probably damaging	Het
Art5	C	T	7: 101,747,123 (GRCm39)	E121K	probably null	Het
Atad5	G	A	11: 79,985,023 (GRCm39)	E37K	probably benign	Het
Atp13a5	A	G	16: 29,053,315 (GRCm39)	V1084A	probably benign	Het
Cfap44	T	C	16: 44,241,507 (GRCm39)	I626T	probably benign	Het
Col16a1	T	A	4: 129,945,440 (GRCm39)		probably null	Het
Defa22	T	G	8: 21,653,130 (GRCm39)	C81G	possibly damaging	Het
Dnm2	A	G	9: 21,411,649 (GRCm39)	Y622C	probably damaging	Het
Efna5	T	A	17: 62,914,340 (GRCm39)	L201F	unknown	Het
Elac1	T	C	18: 73,871,991 (GRCm39)	R335G	probably benign	Het
Enpp5	T	C	17: 44,396,468 (GRCm39)	V460A	probably benign	Het
Esr2	A	G	12: 76,169,969 (GRCm39)	V453A	probably benign	Het
Fam210b	T	A	2: 172,194,497 (GRCm39)		probably benign	Het
Fcgr1	T	C	3: 96,191,893 (GRCm39)	Y305C	probably benign	Het
Fcrlb	A	G	1: 170,736,248 (GRCm39)	V176A	probably damaging	Het
Gabrq	T	A	X: 71,879,783 (GRCm39)	V256E	possibly damaging	Het
Gba1	T	C	3: 89,113,148 (GRCm39)	L193P	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Helq	A	G	5: 100,930,960 (GRCm39)	F597L	probably benign	Het
Hrh1	A	T	6: 114,457,204 (GRCm39)	I162L	probably damaging	Het
Jph1	A	T	1: 17,161,884 (GRCm39)	F259L	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Kdm4c	T	A	4: 74,225,253 (GRCm39)		probably null	Het
Lars1	C	T	18: 42,360,345 (GRCm39)	V704M	probably benign	Het
Lcmt2	A	G	2: 120,969,394 (GRCm39)	L343P	possibly damaging	Het
Lhfpl1	A	G	X: 144,123,733 (GRCm39)	F125L	probably benign	Het
Lmbrd2	C	A	15: 9,186,772 (GRCm39)	D582E	probably damaging	Het
Lrrn2	T	A	1: 132,866,983 (GRCm39)	S683T	possibly damaging	Het
Macf1	T	C	4: 123,365,842 (GRCm39)	D1408G	probably benign	Het
Magi3	T	C	3: 103,923,219 (GRCm39)	K1166R	probably benign	Het
Marchf5	T	C	19: 37,197,892 (GRCm39)		probably benign	Het
Ms4a20	G	A	19: 11,087,695 (GRCm39)	Q79*	probably null	Het
Naa25	A	G	5: 121,564,825 (GRCm39)	Q555R	possibly damaging	Het
Npat	A	G	9: 53,481,207 (GRCm39)	T1005A	probably benign	Het
Nt5c3	G	A	6: 56,863,670 (GRCm39)	A108V	probably damaging	Het
Ocrl	T	A	X: 47,024,995 (GRCm39)	M322K	probably damaging	Het
Odad2	C	A	18: 7,214,601 (GRCm39)	W733C	probably damaging	Het
Or8g2	A	G	9: 39,821,935 (GRCm39)	T279A	possibly damaging	Het
Psg23	A	T	7: 18,344,345 (GRCm39)	V370E	probably benign	Het
Rassf2	A	T	2: 131,838,353 (GRCm39)	M311K	possibly damaging	Het
Rhobtb3	A	G	13: 76,025,614 (GRCm39)	Y501H	probably damaging	Het
Rpl4	A	G	9: 64,083,488 (GRCm39)	D179G	possibly damaging	Het
Scn2a	T	A	2: 65,546,182 (GRCm39)	I915N	probably damaging	Het
Scn3a	T	A	2: 65,356,965 (GRCm39)	T160S	possibly damaging	Het
Slx4ip	T	G	2: 136,909,942 (GRCm39)	N242K	possibly damaging	Het
Spidr	T	A	16: 15,865,945 (GRCm39)	Q288L	probably benign	Het
Sun1	A	T	5: 139,216,918 (GRCm39)	H255L	possibly damaging	Het
Tacc1	C	T	8: 25,665,233 (GRCm39)	G51S	probably damaging	Het
Tet2	T	A	3: 133,185,900 (GRCm39)	N1179I	possibly damaging	Het
Tgfbrap1	T	C	1: 43,101,752 (GRCm39)	Y349C	probably damaging	Het
Tnrc6a	T	C	7: 122,751,414 (GRCm39)		probably benign	Het
Trim32	T	C	4: 65,532,736 (GRCm39)	L431P	probably damaging	Het
Vmn1r35	A	G	6: 66,656,334 (GRCm39)	L112S	probably damaging	Het
Vmn2r100	A	C	17: 19,742,583 (GRCm39)	H319P	probably damaging	Het
Wdr20rt	A	G	12: 65,274,039 (GRCm39)	T328A	probably benign	Het
Zbtb17	T	C	4: 141,192,293 (GRCm39)	Y413H	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
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
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