Mutagenetix > Incidental Mutation

Incidental Mutation 'R9368:Kif5c'

709100

Institutional Source

Beutler Lab

Gene Symbol

Kif5c

Ensembl Gene

ENSMUSG00000026764

Gene Name

kinesin family member 5C

Synonyms

Khc

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49509310-49664790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49622792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 548 (E548V)

Ref Sequence

ENSEMBL: ENSMUSP00000028102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028102] [ENSMUST00000146247]

AlphaFold

P28738

PDB Structure

Crystal Structure of the Kif1A Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With ADP-Mg-AlFx [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With ADP-Mg-VO4 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028102
AA Change: E548V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028102
Gene: ENSMUSG00000026764
AA Change: E548V

Domain	Start	End	E-Value	Type
KISc	6	335	2.8e-173	SMART
low complexity region	340	357	N/A	INTRINSIC
coiled coil region	407	541	N/A	INTRINSIC
coiled coil region	592	803	N/A	INTRINSIC
coiled coil region	826	915	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146247

SMART Domains

Protein: ENSMUSP00000117370
Gene: ENSMUSG00000026764

Domain	Start	End	E-Value	Type
Pfam:Kinesin	1	63	2.1e-23	PFAM
coiled coil region	67	109	N/A	INTRINSIC
coiled coil region	143	243	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homezygous for disruptions in this gene are viable, fertile, and of normal size. The brain is normal but slightly reduced in size with decreased numbers of motor neurons an somewhat more sensory nerves than normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abcc9	A	T	6: 142,640,251 (GRCm39)	L79H	probably damaging	Het
Alb	A	G	5: 90,623,143 (GRCm39)	T601A	probably benign	Het
Aldh1l2	A	T	10: 83,331,816 (GRCm39)	L776*	probably null	Het
Ank3	A	G	10: 69,823,329 (GRCm39)	K666R		Het
Ankrd17	T	C	5: 90,391,986 (GRCm39)	T1895A	possibly damaging	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Ap2a2	T	C	7: 141,207,815 (GRCm39)	F738L	probably benign	Het
Ap4m1	T	A	5: 138,175,445 (GRCm39)	C319*	probably null	Het
Arsj	C	T	3: 126,232,745 (GRCm39)	T497M	probably damaging	Het
Begain	G	T	12: 108,999,918 (GRCm39)	S284R	probably damaging	Het
Bicc1	A	T	10: 70,785,917 (GRCm39)	N408K	probably benign	Het
Cacybp	T	C	1: 160,031,208 (GRCm39)	M207V	possibly damaging	Het
Cct8l1	A	G	5: 25,721,336 (GRCm39)	D17G	probably benign	Het
Cd1d1	C	A	3: 86,905,939 (GRCm39)		probably null	Het
Chd3	C	T	11: 69,251,200 (GRCm39)	C554Y	probably damaging	Het
Chsy1	A	G	7: 65,821,499 (GRCm39)	D578G	probably damaging	Het
Col6a6	T	C	9: 105,663,300 (GRCm39)	Q79R	possibly damaging	Het
Cpne4	A	T	9: 104,563,738 (GRCm39)	R38S	probably damaging	Het
Cyp3a57	A	G	5: 145,318,159 (GRCm39)	D380G	probably benign	Het
Dnah6	A	T	6: 72,998,261 (GRCm39)	S4054T	probably benign	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,762,837 (GRCm39)	R1648G	probably benign	Het
Fam117b	A	T	1: 60,020,740 (GRCm39)	M537L	probably benign	Het
Fcrl2	C	T	3: 87,164,906 (GRCm39)	V207I	possibly damaging	Het
Ffar1	A	G	7: 30,560,457 (GRCm39)	S147P	probably benign	Het
Fgfr3	G	A	5: 33,885,216 (GRCm39)	R110Q	probably benign	Het
Frmd6	T	A	12: 70,933,865 (GRCm39)		probably null	Het
Fry	A	G	5: 150,401,403 (GRCm39)	R356G		Het
Fsip2	A	G	2: 82,811,039 (GRCm39)	R2453G	possibly damaging	Het
Glipr1l3	G	A	10: 111,983,923 (GRCm39)	T181I	probably benign	Het
Hoxc10	A	G	15: 102,879,382 (GRCm39)	I301V	possibly damaging	Het
Igf2bp2	T	A	16: 21,883,895 (GRCm39)	D463V	probably damaging	Het
Ints13	T	C	6: 146,467,129 (GRCm39)	D194G	probably null	Het
Lrp2	T	C	2: 69,357,979 (GRCm39)	D350G	probably damaging	Het
Lrrc61	T	C	6: 48,545,245 (GRCm39)	S23P	possibly damaging	Het
Mcpt4	T	C	14: 56,299,134 (GRCm39)	M35V	probably damaging	Het
Mical1	T	A	10: 41,357,302 (GRCm39)	M369K	possibly damaging	Het
Mre11a	T	A	9: 14,736,514 (GRCm39)	F548L	probably benign	Het
Muc20	C	T	16: 32,614,471 (GRCm39)	C302Y	possibly damaging	Het
Nlgn1	T	C	3: 25,488,622 (GRCm39)	D571G	probably damaging	Het
Nup88	T	C	11: 70,858,756 (GRCm39)	K131E	probably damaging	Het
Nwd2	A	G	5: 63,962,306 (GRCm39)	D630G	probably damaging	Het
Or3a1	A	G	11: 74,225,193 (GRCm39)	L288P	probably damaging	Het
Or5h19	C	T	16: 58,856,678 (GRCm39)	V141M	probably benign	Het
Or6c212	A	T	10: 129,558,881 (GRCm39)	C177*	probably null	Het
Pdzd8	A	T	19: 59,289,219 (GRCm39)	L727*	probably null	Het
Pi16	T	A	17: 29,546,852 (GRCm39)	N475K	probably benign	Het
Pikfyve	G	A	1: 65,307,901 (GRCm39)	A1826T	probably damaging	Het
Plxna1	A	T	6: 89,314,138 (GRCm39)	S768T	probably benign	Het
Plxnc1	T	A	10: 94,700,599 (GRCm39)	R656*	probably null	Het
Poglut1	A	G	16: 38,349,850 (GRCm39)	W308R	probably damaging	Het
Prmt9	T	G	8: 78,285,663 (GRCm39)	V165G	probably benign	Het
Ptch2	A	G	4: 116,961,969 (GRCm39)	E102G	probably damaging	Het
Rpn2	G	T	2: 157,141,500 (GRCm39)	A303S	possibly damaging	Het
Rttn	A	C	18: 89,078,576 (GRCm39)	H1334P	probably damaging	Het
Septin3	A	T	15: 82,163,739 (GRCm39)	D32V	probably damaging	Het
Sftpa1	G	T	14: 40,854,417 (GRCm39)	M1I	probably null	Het
Slc15a2	G	A	16: 36,574,080 (GRCm39)	T591I	probably benign	Het
Slc18a2	C	T	19: 59,262,791 (GRCm39)	T252I	probably benign	Het
Smchd1	A	G	17: 71,694,071 (GRCm39)	F1225L	probably damaging	Het
Sppl2c	G	A	11: 104,078,561 (GRCm39)	G454S	probably damaging	Het
Swt1	A	G	1: 151,286,767 (GRCm39)	S242P	possibly damaging	Het
Tcaim	C	A	9: 122,647,928 (GRCm39)	H148N	probably damaging	Het
Tgfbr3l	T	C	8: 4,299,640 (GRCm39)	V141A	probably damaging	Het
Ticrr	A	G	7: 79,330,735 (GRCm39)	D711G	probably damaging	Het
Trim45	A	T	3: 100,832,319 (GRCm39)	Q184L	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp25	G	A	16: 76,904,843 (GRCm39)	R803H	probably damaging	Het
Vmn2r71	T	A	7: 85,273,442 (GRCm39)	M752K	probably damaging	Het
Wdr35	G	A	12: 9,071,826 (GRCm39)	V893I	probably benign	Het
Zdhhc7	G	T	8: 120,814,494 (GRCm39)	P105Q	probably damaging	Het
Zfp316	A	G	5: 143,250,046 (GRCm39)		probably null	Het
Zfp454	G	C	11: 50,764,537 (GRCm39)	N298K	possibly damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het

Other mutations in Kif5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Kif5c	APN	2	49,584,828 (GRCm39)	missense	possibly damaging	0.81
IGL01432:Kif5c	APN	2	49,591,089 (GRCm39)	missense	probably damaging	1.00
IGL01459:Kif5c	APN	2	49,625,569 (GRCm39)	missense	probably benign	0.36
IGL02127:Kif5c	APN	2	49,591,122 (GRCm39)	splice site	probably null
IGL03088:Kif5c	APN	2	49,634,455 (GRCm39)	missense	probably benign	0.01
IGL03379:Kif5c	APN	2	49,591,104 (GRCm39)	missense	probably damaging	0.97
IGL02988:Kif5c	UTSW	2	49,509,729 (GRCm39)	missense	probably damaging	0.97
PIT4131001:Kif5c	UTSW	2	49,584,044 (GRCm39)	missense	probably damaging	0.99
PIT4469001:Kif5c	UTSW	2	49,631,360 (GRCm39)	missense	probably benign	0.00
R0017:Kif5c	UTSW	2	49,622,725 (GRCm39)	missense	probably benign
R0017:Kif5c	UTSW	2	49,622,725 (GRCm39)	missense	probably benign
R0116:Kif5c	UTSW	2	49,642,251 (GRCm39)	splice site	probably benign
R0550:Kif5c	UTSW	2	49,648,924 (GRCm39)	missense	possibly damaging	0.53
R0760:Kif5c	UTSW	2	49,578,765 (GRCm39)	missense	probably damaging	1.00
R0967:Kif5c	UTSW	2	49,588,128 (GRCm39)	unclassified	probably benign
R1015:Kif5c	UTSW	2	49,634,377 (GRCm39)	missense	probably benign	0.13
R1758:Kif5c	UTSW	2	49,613,145 (GRCm39)	missense	probably benign	0.00
R1786:Kif5c	UTSW	2	49,648,817 (GRCm39)	splice site	probably benign
R1828:Kif5c	UTSW	2	49,570,252 (GRCm39)	critical splice donor site	probably null
R2130:Kif5c	UTSW	2	49,648,817 (GRCm39)	splice site	probably benign
R2132:Kif5c	UTSW	2	49,648,817 (GRCm39)	splice site	probably benign
R2237:Kif5c	UTSW	2	49,584,020 (GRCm39)	missense	probably benign	0.35
R3970:Kif5c	UTSW	2	49,578,756 (GRCm39)	missense	probably damaging	1.00
R4439:Kif5c	UTSW	2	49,578,737 (GRCm39)	missense	possibly damaging	0.90
R5260:Kif5c	UTSW	2	49,625,602 (GRCm39)	missense	probably damaging	0.99
R5318:Kif5c	UTSW	2	49,561,840 (GRCm39)	missense	probably benign
R5345:Kif5c	UTSW	2	49,613,078 (GRCm39)	missense	probably benign
R5490:Kif5c	UTSW	2	49,648,870 (GRCm39)	missense	probably benign
R5496:Kif5c	UTSW	2	49,620,202 (GRCm39)	missense	possibly damaging	0.69
R5567:Kif5c	UTSW	2	49,620,211 (GRCm39)	missense	possibly damaging	0.64
R5570:Kif5c	UTSW	2	49,620,211 (GRCm39)	missense	possibly damaging	0.64
R6019:Kif5c	UTSW	2	49,625,521 (GRCm39)	missense	probably benign	0.09
R6688:Kif5c	UTSW	2	49,578,749 (GRCm39)	missense	probably benign	0.06
R7006:Kif5c	UTSW	2	49,625,526 (GRCm39)	missense	probably damaging	0.97
R7009:Kif5c	UTSW	2	49,647,441 (GRCm39)	missense	probably benign
R7081:Kif5c	UTSW	2	49,631,373 (GRCm39)	missense	probably benign	0.00
R7372:Kif5c	UTSW	2	49,648,671 (GRCm39)	splice site	probably null
R7512:Kif5c	UTSW	2	49,590,977 (GRCm39)	missense	probably damaging	1.00
R7549:Kif5c	UTSW	2	49,591,105 (GRCm39)	missense	probably benign	0.11
R7764:Kif5c	UTSW	2	49,639,339 (GRCm39)	missense	probably damaging	1.00
R7764:Kif5c	UTSW	2	49,617,973 (GRCm39)	critical splice donor site	probably null
R7904:Kif5c	UTSW	2	49,591,095 (GRCm39)	missense	probably damaging	1.00
R8292:Kif5c	UTSW	2	49,625,497 (GRCm39)	missense	probably benign	0.05
R8735:Kif5c	UTSW	2	49,584,783 (GRCm39)	missense	probably damaging	1.00
R8816:Kif5c	UTSW	2	49,584,799 (GRCm39)	missense	probably damaging	1.00
R9109:Kif5c	UTSW	2	49,620,151 (GRCm39)	missense	probably damaging	1.00
R9139:Kif5c	UTSW	2	49,620,291 (GRCm39)	missense	probably benign	0.00
R9257:Kif5c	UTSW	2	49,590,604 (GRCm39)	nonsense	probably null
R9325:Kif5c	UTSW	2	49,639,378 (GRCm39)	missense	probably benign	0.04
R9748:Kif5c	UTSW	2	49,584,859 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGAGCTGGGTCTGGCATG -3'
(R):5'- AAAGGCAAACTGTTCCTCTCC -3'

Sequencing Primer
(F):5'- CTGGCATGGGCTGTTGAGC -3'
(R):5'- CTTTTTCAGCATGCGCCAGG -3'

Posted On

2022-04-18