Mutagenetix > Incidental Mutation

Incidental Mutation 'R1802:Kif1a'

203188

Institutional Source

Beutler Lab

Gene Symbol

Kif1a

Ensembl Gene

ENSMUSG00000014602

Gene Name

kinesin family member 1A

Synonyms

N-3 kinesin, C630002N23Rik, Kns1, LOC381283, ATSV

MMRRC Submission

039832-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.847) question?

Stock #

R1802 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92943186-93029673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92993871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 360 (I360F)

Ref Sequence

ENSEMBL: ENSMUSP00000140163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086819] [ENSMUST00000112958] [ENSMUST00000171556] [ENSMUST00000171796] [ENSMUST00000190723]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000086819
AA Change: I360F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084029
Gene: ENSMUSG00000014602
AA Change: I360F

Domain	Start	End	E-Value	Type
KISc	3	362	1.05e-177	SMART
low complexity region	411	429	N/A	INTRINSIC
FHA	524	581	1.39e-8	SMART
coiled coil region	634	688	N/A	INTRINSIC
low complexity region	693	706	N/A	INTRINSIC
low complexity region	762	778	N/A	INTRINSIC
Pfam:KIF1B	814	861	6.4e-13	PFAM
Pfam:DUF3694	1157	1305	1.8e-47	PFAM
low complexity region	1420	1444	N/A	INTRINSIC
low complexity region	1541	1549	N/A	INTRINSIC
PH	1584	1683	1.52e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112958
AA Change: I360F

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

SMART Domains

Protein: ENSMUSP00000108582
Gene: ENSMUSG00000014602
AA Change: I360F

Domain	Start	End	E-Value	Type
KISc	3	362	1.05e-177	SMART
low complexity region	402	420	N/A	INTRINSIC
FHA	515	572	1.39e-8	SMART
coiled coil region	625	679	N/A	INTRINSIC
low complexity region	684	697	N/A	INTRINSIC
low complexity region	753	769	N/A	INTRINSIC
Pfam:KIF1B	805	851	3.9e-15	PFAM
Pfam:DUF3694	1148	1304	5e-40	PFAM
low complexity region	1420	1444	N/A	INTRINSIC
low complexity region	1541	1549	N/A	INTRINSIC
PH	1584	1683	1.52e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171556
AA Change: I360F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130717
Gene: ENSMUSG00000014602
AA Change: I360F

Domain	Start	End	E-Value	Type
KISc	3	362	1.05e-177	SMART
low complexity region	402	420	N/A	INTRINSIC
FHA	515	572	1.39e-8	SMART
coiled coil region	625	679	N/A	INTRINSIC
low complexity region	684	697	N/A	INTRINSIC
low complexity region	753	769	N/A	INTRINSIC
Pfam:KIF1B	805	852	2.7e-13	PFAM
Pfam:DUF3694	1148	1296	8.4e-48	PFAM
low complexity region	1411	1435	N/A	INTRINSIC
low complexity region	1532	1540	N/A	INTRINSIC
PH	1575	1674	1.52e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171796
AA Change: I360F

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

SMART Domains

Protein: ENSMUSP00000128432
Gene: ENSMUSG00000014602
AA Change: I360F

Domain	Start	End	E-Value	Type
KISc	3	362	1.05e-177	SMART
low complexity region	402	420	N/A	INTRINSIC
FHA	515	572	1.39e-8	SMART
coiled coil region	625	679	N/A	INTRINSIC
low complexity region	684	697	N/A	INTRINSIC
low complexity region	753	769	N/A	INTRINSIC
Pfam:KIF1B	805	852	6.4e-13	PFAM
Pfam:DUF3694	1148	1304	1.8e-46	PFAM
low complexity region	1419	1443	N/A	INTRINSIC
low complexity region	1540	1548	N/A	INTRINSIC
PH	1583	1682	1.52e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190249

Predicted Effect

probably damaging
Transcript: ENSMUST00000190723
AA Change: I360F

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

SMART Domains

Protein: ENSMUSP00000140163
Gene: ENSMUSG00000014602
AA Change: I360F

Domain	Start	End	E-Value	Type
KISc	3	362	5.2e-180	SMART
low complexity region	411	429	N/A	INTRINSIC
coiled coil region	438	471	N/A	INTRINSIC
FHA	524	581	6.9e-11	SMART
coiled coil region	634	688	N/A	INTRINSIC
low complexity region	693	706	N/A	INTRINSIC
low complexity region	762	778	N/A	INTRINSIC
Pfam:KIF1B	814	861	4e-10	PFAM
low complexity region	885	900	N/A	INTRINSIC
coiled coil region	901	929	N/A	INTRINSIC
internal_repeat_1	938	957	5.9e-5	PROSPERO
Pfam:DUF3694	1250	1398	1.1e-44	PFAM
low complexity region	1513	1537	N/A	INTRINSIC
low complexity region	1634	1642	N/A	INTRINSIC
PH	1677	1776	6.9e-16	SMART

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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 member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
PHENOTYPE: Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, other(1) Gene trapped(1)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	G	T	15: 91,047,305 (GRCm39)	R583S	probably benign	Het
Ago2	A	T	15: 72,993,029 (GRCm39)	F492Y	probably damaging	Het
Ano4	T	A	10: 88,816,878 (GRCm39)	D610V	probably damaging	Het
Atp6v0d2	A	G	4: 19,922,366 (GRCm39)		probably null	Het
Atxn7	T	G	14: 14,089,419 (GRCm38)	S312A	probably benign	Het
Azgp1	A	G	5: 137,983,493 (GRCm39)	Y56C	probably damaging	Het
Bcan	A	G	3: 87,900,415 (GRCm39)	V606A	possibly damaging	Het
Btnl9	T	A	11: 49,066,617 (GRCm39)	I335F	probably benign	Het
Ccdc63	T	C	5: 122,267,940 (GRCm39)	R9G	probably damaging	Het
Cdyl	T	A	13: 36,056,619 (GRCm39)	L534*	probably null	Het
Celf2	T	C	2: 6,554,744 (GRCm39)	E445G	probably damaging	Het
Cfap97d1	T	A	11: 101,879,302 (GRCm39)	Y25N	possibly damaging	Het
Cimap3	T	A	3: 105,921,866 (GRCm39)	Q19L	possibly damaging	Het
Cnot8	T	C	11: 58,008,361 (GRCm39)	C276R	probably benign	Het
Dock4	A	G	12: 40,844,597 (GRCm39)	I1135V	possibly damaging	Het
Edc3	A	G	9: 57,634,598 (GRCm39)	D205G	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Fancl	T	G	11: 26,409,709 (GRCm39)	S188R	probably benign	Het
Fbn2	T	A	18: 58,186,048 (GRCm39)	K1767*	probably null	Het
Glrb	A	T	3: 80,769,264 (GRCm39)	H154Q	probably damaging	Het
Gm19965	C	T	1: 116,748,633 (GRCm39)	R105*	probably null	Het
Grhpr	C	A	4: 44,988,950 (GRCm39)	Y202*	probably null	Het
Herc2	A	G	7: 55,834,080 (GRCm39)	E3095G	probably damaging	Het
Il22ra2	A	T	10: 19,502,447 (GRCm39)	N89Y	probably damaging	Het
Itgb6	T	C	2: 60,483,625 (GRCm39)	D261G	probably benign	Het
Jmjd7	C	T	2: 119,860,589 (GRCm39)	L39F	probably damaging	Het
Kmt2d	T	C	15: 98,760,866 (GRCm39)	Q828R	unknown	Het
Marchf10	C	A	11: 105,280,741 (GRCm39)	A515S	probably benign	Het
Mios	T	A	6: 8,216,385 (GRCm39)	Y436*	probably null	Het
Mprip	C	T	11: 59,645,867 (GRCm39)	L684F	probably damaging	Het
Mybpc2	T	A	7: 44,161,894 (GRCm39)	N519Y	possibly damaging	Het
Naga	C	T	15: 82,221,669 (GRCm39)	R24Q	probably benign	Het
Nr2c1	G	A	10: 93,999,648 (GRCm39)	V103M	possibly damaging	Het
Oca2	A	G	7: 55,904,728 (GRCm39)	S65G	possibly damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or52ab7	A	G	7: 102,977,854 (GRCm39)	I54V	probably benign	Het
Phyhipl	A	T	10: 70,434,855 (GRCm39)	I28N	probably benign	Het
Pik3cb	C	A	9: 98,983,342 (GRCm39)	E89*	probably null	Het
Plekhm2	A	T	4: 141,361,658 (GRCm39)	S262T	probably benign	Het
Ppm1a	T	A	12: 72,840,481 (GRCm39)		probably null	Het
Relt	T	C	7: 100,499,401 (GRCm39)	I173V	probably damaging	Het
Rfx7	T	A	9: 72,526,919 (GRCm39)	S1370T	possibly damaging	Het
Rps7	G	A	12: 28,684,258 (GRCm39)	R81C	probably benign	Het
Saa3	T	C	7: 46,361,550 (GRCm39)	*123W	probably null	Het
Serpina3b	C	A	12: 104,104,896 (GRCm39)	H357Q	probably damaging	Het
Slc9c1	T	A	16: 45,378,644 (GRCm39)	N493K	probably benign	Het
Spata31	T	C	13: 65,070,197 (GRCm39)	Y782H	probably benign	Het
Tfap2a	T	C	13: 40,878,646 (GRCm39)	D166G	probably damaging	Het
Thada	A	T	17: 84,771,835 (GRCm39)	M9K	probably benign	Het
Tmem269	A	T	4: 119,068,070 (GRCm39)		probably null	Het
Tnxb	C	A	17: 34,922,863 (GRCm39)	P2482Q	probably damaging	Het
Vit	T	C	17: 78,912,940 (GRCm39)	V291A	possibly damaging	Het
Zfp930	G	T	8: 69,679,046 (GRCm39)	A18S	possibly damaging	Het
Zup1	A	T	10: 33,819,714 (GRCm39)	V200D	probably damaging	Het

Other mutations in Kif1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Kif1a	APN	1	92,982,656 (GRCm39)	missense	probably damaging	1.00
IGL01574:Kif1a	APN	1	93,010,062 (GRCm39)	missense	probably damaging	1.00
IGL01637:Kif1a	APN	1	92,967,575 (GRCm39)	missense	possibly damaging	0.95
IGL01895:Kif1a	APN	1	92,953,455 (GRCm39)	missense	possibly damaging	0.65
IGL02215:Kif1a	APN	1	92,948,271 (GRCm39)	missense	probably benign	0.05
IGL02571:Kif1a	APN	1	92,948,178 (GRCm39)	critical splice donor site	probably null
IGL02734:Kif1a	APN	1	92,990,280 (GRCm39)	missense	probably damaging	1.00
IGL02752:Kif1a	APN	1	92,967,569 (GRCm39)	missense	possibly damaging	0.92
IGL02990:Kif1a	APN	1	92,966,985 (GRCm39)	missense	probably damaging	1.00
IGL03298:Kif1a	APN	1	92,993,903 (GRCm39)	missense	probably damaging	1.00
IGL03309:Kif1a	APN	1	92,986,579 (GRCm39)	nonsense	probably null
IGL03354:Kif1a	APN	1	92,987,957 (GRCm39)	missense	probably damaging	1.00
asbestos	UTSW	1	92,950,227 (GRCm39)	missense	probably damaging	1.00
chrysolite	UTSW	1	93,002,670 (GRCm39)	splice site	probably benign
osmium	UTSW	1	92,986,532 (GRCm39)	splice site	probably benign
R4538_Kif1a_397	UTSW	1	93,004,769 (GRCm39)	missense	probably damaging	1.00
1mM(1):Kif1a	UTSW	1	93,004,790 (GRCm39)	missense	probably benign	0.00
IGL03046:Kif1a	UTSW	1	93,010,128 (GRCm39)	missense	probably damaging	1.00
PIT4508001:Kif1a	UTSW	1	92,974,451 (GRCm39)	missense	probably damaging	1.00
R0025:Kif1a	UTSW	1	92,970,080 (GRCm39)	missense	probably damaging	1.00
R0115:Kif1a	UTSW	1	92,974,500 (GRCm39)	splice site	probably benign
R0243:Kif1a	UTSW	1	92,969,815 (GRCm39)	missense	probably damaging	1.00
R0270:Kif1a	UTSW	1	92,982,164 (GRCm39)	splice site	probably benign
R0335:Kif1a	UTSW	1	92,980,288 (GRCm39)	splice site	probably benign
R0380:Kif1a	UTSW	1	92,983,753 (GRCm39)	critical splice acceptor site	probably null
R0472:Kif1a	UTSW	1	92,946,719 (GRCm39)	missense	probably damaging	0.99
R0501:Kif1a	UTSW	1	92,983,967 (GRCm39)	missense	probably damaging	1.00
R0538:Kif1a	UTSW	1	92,971,360 (GRCm39)	missense	probably damaging	0.99
R0628:Kif1a	UTSW	1	92,947,605 (GRCm39)	missense	probably damaging	1.00
R0848:Kif1a	UTSW	1	92,947,620 (GRCm39)	missense	probably damaging	1.00
R1110:Kif1a	UTSW	1	92,951,175 (GRCm39)	splice site	probably benign
R1132:Kif1a	UTSW	1	92,983,743 (GRCm39)	missense	probably damaging	0.99
R1387:Kif1a	UTSW	1	92,983,672 (GRCm39)	splice site	probably benign
R1466:Kif1a	UTSW	1	92,982,651 (GRCm39)	missense	possibly damaging	0.68
R1466:Kif1a	UTSW	1	92,982,651 (GRCm39)	missense	possibly damaging	0.68
R1544:Kif1a	UTSW	1	93,002,670 (GRCm39)	splice site	probably benign
R1569:Kif1a	UTSW	1	92,986,532 (GRCm39)	splice site	probably benign
R1917:Kif1a	UTSW	1	92,946,753 (GRCm39)	missense	possibly damaging	0.95
R1919:Kif1a	UTSW	1	92,946,753 (GRCm39)	missense	possibly damaging	0.95
R1999:Kif1a	UTSW	1	92,988,517 (GRCm39)	missense	probably damaging	0.98
R2000:Kif1a	UTSW	1	92,982,051 (GRCm39)	missense	probably damaging	0.99
R2276:Kif1a	UTSW	1	92,996,199 (GRCm39)	splice site	probably benign
R2307:Kif1a	UTSW	1	93,006,491 (GRCm39)	missense	probably damaging	1.00
R2919:Kif1a	UTSW	1	92,974,464 (GRCm39)	missense	probably damaging	1.00
R3440:Kif1a	UTSW	1	92,964,575 (GRCm39)	missense	possibly damaging	0.53
R3441:Kif1a	UTSW	1	92,964,575 (GRCm39)	missense	possibly damaging	0.53
R3618:Kif1a	UTSW	1	93,004,765 (GRCm39)	missense	probably null	1.00
R3957:Kif1a	UTSW	1	92,953,416 (GRCm39)	missense	probably damaging	1.00
R4010:Kif1a	UTSW	1	92,950,131 (GRCm39)	missense	probably benign	0.42
R4013:Kif1a	UTSW	1	93,004,014 (GRCm39)	missense	probably damaging	1.00
R4017:Kif1a	UTSW	1	93,004,014 (GRCm39)	missense	probably damaging	1.00
R4115:Kif1a	UTSW	1	92,980,260 (GRCm39)	missense	probably damaging	1.00
R4386:Kif1a	UTSW	1	92,996,272 (GRCm39)	missense	probably damaging	1.00
R4538:Kif1a	UTSW	1	93,004,769 (GRCm39)	missense	probably damaging	1.00
R4608:Kif1a	UTSW	1	92,952,368 (GRCm39)	missense	possibly damaging	0.81
R4625:Kif1a	UTSW	1	92,970,381 (GRCm39)	missense	probably benign	0.00
R4701:Kif1a	UTSW	1	93,006,557 (GRCm39)	missense	probably damaging	0.99
R4794:Kif1a	UTSW	1	92,953,449 (GRCm39)	missense	probably damaging	1.00
R4830:Kif1a	UTSW	1	92,948,931 (GRCm39)	splice site	probably null
R4903:Kif1a	UTSW	1	92,949,456 (GRCm39)	missense	probably damaging	1.00
R4915:Kif1a	UTSW	1	93,002,700 (GRCm39)	missense	probably benign	0.21
R4918:Kif1a	UTSW	1	93,002,700 (GRCm39)	missense	probably benign	0.21
R4991:Kif1a	UTSW	1	93,006,530 (GRCm39)	missense	probably benign	0.00
R5028:Kif1a	UTSW	1	92,982,049 (GRCm39)	missense	possibly damaging	0.68
R5051:Kif1a	UTSW	1	93,003,876 (GRCm39)	splice site	probably null
R5073:Kif1a	UTSW	1	92,950,227 (GRCm39)	missense	probably damaging	1.00
R5103:Kif1a	UTSW	1	92,974,418 (GRCm39)	missense	probably damaging	1.00
R5314:Kif1a	UTSW	1	92,946,220 (GRCm39)	missense	probably damaging	1.00
R5481:Kif1a	UTSW	1	92,987,966 (GRCm39)	missense	probably benign	0.01
R5510:Kif1a	UTSW	1	92,969,414 (GRCm39)	missense	possibly damaging	0.93
R5610:Kif1a	UTSW	1	92,953,450 (GRCm39)	missense	probably damaging	1.00
R5643:Kif1a	UTSW	1	92,983,489 (GRCm39)	missense	probably damaging	0.98
R5808:Kif1a	UTSW	1	92,970,420 (GRCm39)	missense	probably damaging	0.99
R6027:Kif1a	UTSW	1	92,953,365 (GRCm39)	missense	probably benign	0.33
R6056:Kif1a	UTSW	1	92,952,370 (GRCm39)	missense	probably damaging	1.00
R6077:Kif1a	UTSW	1	92,982,618 (GRCm39)	missense	possibly damaging	0.54
R6120:Kif1a	UTSW	1	92,952,296 (GRCm39)	splice site	probably null
R6126:Kif1a	UTSW	1	92,947,621 (GRCm39)	missense	probably damaging	1.00
R6130:Kif1a	UTSW	1	92,964,623 (GRCm39)	missense	probably damaging	1.00
R6255:Kif1a	UTSW	1	92,947,705 (GRCm39)	missense	probably damaging	1.00
R6301:Kif1a	UTSW	1	92,982,663 (GRCm39)	nonsense	probably null
R6326:Kif1a	UTSW	1	93,004,048 (GRCm39)	missense	probably damaging	1.00
R6594:Kif1a	UTSW	1	92,949,035 (GRCm39)	missense	probably benign	0.00
R6653:Kif1a	UTSW	1	93,005,420 (GRCm39)	missense	probably damaging	1.00
R6791:Kif1a	UTSW	1	92,993,859 (GRCm39)	missense	probably damaging	1.00
R6853:Kif1a	UTSW	1	92,967,524 (GRCm39)	missense	possibly damaging	0.47
R7022:Kif1a	UTSW	1	92,993,820 (GRCm39)	missense	probably benign	0.31
R7059:Kif1a	UTSW	1	92,974,551 (GRCm39)	intron	probably benign
R7103:Kif1a	UTSW	1	93,005,507 (GRCm39)	missense	probably damaging	1.00
R7248:Kif1a	UTSW	1	92,969,305 (GRCm39)	missense	probably benign	0.35
R7259:Kif1a	UTSW	1	93,001,532 (GRCm39)	nonsense	probably null
R7424:Kif1a	UTSW	1	92,982,039 (GRCm39)	missense	possibly damaging	0.89
R7659:Kif1a	UTSW	1	92,974,542 (GRCm39)	intron	probably benign
R7681:Kif1a	UTSW	1	92,982,666 (GRCm39)	missense	probably benign
R7976:Kif1a	UTSW	1	92,967,496 (GRCm39)	missense	probably damaging	1.00
R8056:Kif1a	UTSW	1	92,982,423 (GRCm39)	intron	probably benign
R8420:Kif1a	UTSW	1	92,950,141 (GRCm39)	missense	probably benign
R8994:Kif1a	UTSW	1	92,983,457 (GRCm39)	missense	possibly damaging	0.77
R9016:Kif1a	UTSW	1	92,953,395 (GRCm39)	missense	probably damaging	1.00
R9206:Kif1a	UTSW	1	92,979,202 (GRCm39)	missense	probably damaging	0.99
R9246:Kif1a	UTSW	1	93,005,501 (GRCm39)	missense	probably damaging	0.98
R9252:Kif1a	UTSW	1	93,002,776 (GRCm39)	missense	probably damaging	1.00
R9388:Kif1a	UTSW	1	93,000,029 (GRCm39)	critical splice donor site	probably null
R9413:Kif1a	UTSW	1	92,949,019 (GRCm39)	missense	probably benign	0.00
R9612:Kif1a	UTSW	1	92,953,416 (GRCm39)	missense	probably damaging	1.00
R9621:Kif1a	UTSW	1	92,983,445 (GRCm39)	missense	probably benign
R9625:Kif1a	UTSW	1	93,000,766 (GRCm39)	missense	probably benign	0.42
R9694:Kif1a	UTSW	1	92,950,173 (GRCm39)	missense	probably benign
Z1176:Kif1a	UTSW	1	92,950,213 (GRCm39)	missense	probably damaging	1.00
Z1176:Kif1a	UTSW	1	92,949,038 (GRCm39)	missense	probably damaging	0.97
Z1176:Kif1a	UTSW	1	92,983,419 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCTGACAAATGTGGCTACAG -3'
(R):5'- TGGGTTCTCATTCTGCTAGC -3'

Sequencing Primer
(F):5'- ACATCAGTAGGAGGCAGCCC -3'
(R):5'- CTGCTAGCCTAGGTCAAATATTTTC -3'

Posted On

2014-06-23