Mutagenetix > Incidental Mutation

Incidental Mutation 'R9250:Kif13a'

701503

Institutional Source

Beutler Lab

Gene Symbol

Kif13a

Ensembl Gene

ENSMUSG00000021375

Gene Name

kinesin family member 13A

Synonyms

4930505I07Rik, N-3 kinesin

MMRRC Submission

068989-MU

Accession Numbers

Essential gene?

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

Stock #

R9250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46902563-47083343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46928909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 1159 (H1159N)

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: H1159N

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

SMART Domains

Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: H1159N

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: H176N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224756

Predicted Effect

probably benign
Transcript: ENSMUST00000225591

Meta Mutation Damage Score

0.8592

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

98% (55/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	G	3: 137,772,389 (GRCm39)	A526G	probably damaging	Het
AAdacl4fm3	A	T	4: 144,442,011 (GRCm39)	I80K	probably benign	Het
Ablim3	A	G	18: 61,944,501 (GRCm39)	L526P	probably damaging	Het
Aknad1	T	C	3: 108,664,143 (GRCm39)	S369P	probably damaging	Het
Aldh8a1	T	C	10: 21,258,259 (GRCm39)	S119P	probably damaging	Het
Brpf3	T	C	17: 29,054,788 (GRCm39)	I1110T	probably damaging	Het
Cdk12	T	C	11: 98,101,398 (GRCm39)	S419P	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Crim1	C	T	17: 78,677,471 (GRCm39)	H891Y	probably benign	Het
Dapp1	T	C	3: 137,638,919 (GRCm39)	E269G	probably benign	Het
Ddt	T	C	10: 75,609,063 (GRCm39)	D32G	probably benign	Het
Dlg5	T	C	14: 24,240,543 (GRCm39)	D236G	probably benign	Het
Edem1	C	A	6: 108,805,850 (GRCm39)	D50E	probably benign	Het
Exoc5	A	T	14: 49,256,915 (GRCm39)	N490K	probably damaging	Het
Fam117a	C	A	11: 95,228,071 (GRCm39)	D60E	possibly damaging	Het
Fam186a	A	G	15: 99,845,330 (GRCm39)	S305P	unknown	Het
Fbxw21	A	G	9: 108,972,846 (GRCm39)	F363L	probably benign	Het
Fhl2	A	G	1: 43,167,422 (GRCm39)	C224R	probably damaging	Het
Gad1	T	A	2: 70,409,543 (GRCm39)	N211K	probably damaging	Het
Igdcc4	A	G	9: 65,038,932 (GRCm39)	T906A	possibly damaging	Het
Igkv3-5	T	C	6: 70,640,758 (GRCm39)	S80P	probably benign	Het
Igkv4-90	C	A	6: 68,784,331 (GRCm39)	G62*	probably null	Het
Il31ra	A	T	13: 112,669,508 (GRCm39)	Y386N	probably damaging	Het
Kmt2a	G	A	9: 44,759,683 (GRCm39)	S722F	possibly damaging	Het
Mipep	T	C	14: 61,028,358 (GRCm39)	Y157H	probably damaging	Het
Mipol1	A	G	12: 57,461,169 (GRCm39)	E293G	probably damaging	Het
Mmp7	A	T	9: 7,697,885 (GRCm39)		probably benign	Het
Mr1	A	G	1: 155,013,325 (GRCm39)	L84P	probably damaging	Het
Neb	A	G	2: 52,168,913 (GRCm39)	V1874A	possibly damaging	Het
Nefm	T	C	14: 68,358,570 (GRCm39)		probably benign	Het
Nek1	T	C	8: 61,465,151 (GRCm39)	M80T	probably damaging	Het
Nubp2	A	G	17: 25,103,373 (GRCm39)		probably null	Het
Or10ab4	C	T	7: 107,655,014 (GRCm39)	T275M	probably damaging	Het
Or5w11	T	C	2: 87,459,278 (GRCm39)	I41T	probably benign	Het
Or8b101	T	A	9: 38,020,718 (GRCm39)	C240*	probably null	Het
Ovch2	C	A	7: 107,392,542 (GRCm39)	R267L	probably damaging	Het
Pole	A	G	5: 110,447,687 (GRCm39)	E741G	possibly damaging	Het
Ptprh	T	A	7: 4,576,289 (GRCm39)	T324S	probably benign	Het
Pxk	T	A	14: 8,144,123 (GRCm38)	H290Q	probably damaging	Het
Rab11fip3	G	T	17: 26,237,219 (GRCm39)	T5N	unknown	Het
Rp9	G	A	9: 22,365,086 (GRCm39)	Q124*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,125,459 (GRCm39)	L19P	probably benign	Het
Sf1	C	T	19: 6,424,764 (GRCm39)	P473L	unknown	Het
Slc9a2	C	T	1: 40,806,987 (GRCm39)	T758I	probably benign	Het
Spef1l	C	A	7: 139,556,395 (GRCm39)	K197N	probably benign	Het
Tas2r105	T	G	6: 131,663,951 (GRCm39)	H159P	probably benign	Het
Tas2r120	T	A	6: 132,633,954 (GRCm39)	M12K	probably benign	Het
Thoc2l	A	G	5: 104,667,320 (GRCm39)	Y614C	probably benign	Het
Trpv4	T	C	5: 114,764,941 (GRCm39)	Y691C	probably damaging	Het
Unc93a	A	G	17: 13,334,488 (GRCm39)	V337A	probably benign	Het
Usp17le	T	G	7: 104,418,839 (GRCm39)	Q101P	probably damaging	Het
Usp3	A	T	9: 66,449,793 (GRCm39)		probably null	Het
Zfp445	T	C	9: 122,681,092 (GRCm39)	S950G	possibly damaging	Het
Zfp644	T	G	5: 106,784,699 (GRCm39)	D616A	probably damaging	Het
Zfp759	T	G	13: 67,288,461 (GRCm39)	C671G	probably damaging	Het
Zgrf1	G	T	3: 127,379,797 (GRCm39)	C1111F	probably damaging	Het
Zmym2	T	A	14: 57,148,732 (GRCm39)	S349T	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
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
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'- TGTGACCAAAGCCACACTG -3'
(R):5'- TTCTCACAGCAGAATCATGCC -3'

Sequencing Primer
(F):5'- AAGCCACACTGTCACCTAGTTTG -3'
(R):5'- CACTGTAGGGCATCTCATCTAAGG -3'

Posted On

2022-03-25