Mutagenetix > Incidental Mutation

Incidental Mutation 'R1132:Kif1a'

94669

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

039205-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R1132 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92943186-93029673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92983743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 653 (E653G)

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 benign
Transcript: ENSMUST00000086819
AA Change: E653G

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084029
Gene: ENSMUSG00000014602
AA Change: E653G

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 benign
Transcript: ENSMUST00000112958
AA Change: E644G

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108582
Gene: ENSMUSG00000014602
AA Change: E644G

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 benign
Transcript: ENSMUST00000171556
AA Change: E644G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000130717
Gene: ENSMUSG00000014602
AA Change: E644G

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 benign
Transcript: ENSMUST00000171796
AA Change: E644G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128432
Gene: ENSMUSG00000014602
AA Change: E644G

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

probably benign
Transcript: ENSMUST00000186828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188493

Predicted Effect

probably damaging
Transcript: ENSMUST00000190723
AA Change: E653G

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

SMART Domains

Protein: ENSMUSP00000140163
Gene: ENSMUSG00000014602
AA Change: E653G

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: 99.0%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,894,917 (GRCm39)	V451A	possibly damaging	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,093,420 (GRCm39)		probably benign	Het
C3	C	T	17: 57,514,531 (GRCm39)		probably null	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cd163	G	T	6: 124,286,055 (GRCm39)	G202*	probably null	Het
Cdk8	A	G	5: 146,236,625 (GRCm39)	T347A	probably benign	Het
Cep170	C	A	1: 176,577,603 (GRCm39)	R1257L	probably damaging	Het
Cib1	A	G	7: 79,877,778 (GRCm39)	F168S	probably damaging	Het
Cntnap5c	G	A	17: 58,601,351 (GRCm39)	G833D	probably damaging	Het
Dhx37	A	T	5: 125,498,103 (GRCm39)	I702N	probably damaging	Het
Dnah3	T	C	7: 119,538,227 (GRCm39)	K3586R	possibly damaging	Het
Fbxo31	ACGGCGCGGCG	ACGGCGCGGCGCGGCG	8: 122,279,015 (GRCm39)		probably null	Het
Fbxo31	CGCGG	CGCGGAGCGG	8: 122,279,019 (GRCm39)		probably null	Het
Fhod3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	18: 25,153,722 (GRCm39)		probably benign	Het
Gaa	T	C	11: 119,175,885 (GRCm39)	S953P	probably damaging	Het
Inpp5j	T	C	11: 3,452,305 (GRCm39)	E315G	possibly damaging	Het
Itsn2	T	C	12: 4,708,464 (GRCm39)	Y840H	probably damaging	Het
Loxhd1	T	C	18: 77,517,639 (GRCm39)	V1829A	possibly damaging	Het
Myh8	C	T	11: 67,187,957 (GRCm39)	Q910*	probably null	Het
Or12d12	T	C	17: 37,610,423 (GRCm39)	R297G	probably benign	Het
Or14a257	A	T	7: 86,138,425 (GRCm39)	F111L	probably benign	Het
Or14j4	G	T	17: 37,921,333 (GRCm39)	T103K	possibly damaging	Het
Or2ag17	A	T	7: 106,389,758 (GRCm39)	I150N	possibly damaging	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Rad50	T	C	11: 53,585,788 (GRCm39)	K331E	possibly damaging	Het
Rbbp6	A	G	7: 122,599,336 (GRCm39)		probably benign	Het
Selenbp1	C	G	3: 94,844,644 (GRCm39)	I100M	probably benign	Het
Skint6	A	G	4: 112,755,296 (GRCm39)		probably null	Het
Stac3	T	C	10: 127,343,128 (GRCm39)	S208P	probably benign	Het
Tfap2a	T	C	13: 40,874,867 (GRCm39)		probably null	Het
Trhde	T	C	10: 114,248,383 (GRCm39)	K939E	possibly damaging	Het
Vmn1r22	T	C	6: 57,877,826 (GRCm39)	I50M	probably benign	Het
Vmn1r39	C	T	6: 66,781,428 (GRCm39)	V260I	probably benign	Het
Zdhhc25	T	C	15: 88,484,926 (GRCm39)	L87P	probably damaging	Het
Zfp202	T	C	9: 40,122,318 (GRCm39)	L360P	probably benign	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
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
R1802:Kif1a	UTSW	1	92,993,871 (GRCm39)	missense	probably damaging	1.00
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'- ATGGAGACTGAGACAGCCTCATCC -3'
(R):5'- TGAGCGAACACCTTGTGCAGAGAC -3'

Sequencing Primer
(F):5'- GAGACAGCCTCATCCCAGTC -3'
(R):5'- ACCTTGTGCAGAGACACCTG -3'

Posted On

2014-01-05