Mutagenetix > Incidental Mutation

Incidental Mutation 'R2307:Kif1a'

244613

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

040306-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R2307 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92943186-93029673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 93006491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 59 (H59N)

Ref Sequence

ENSEMBL: ENSMUSP00000140163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086819] [ENSMUST00000112958] [ENSMUST00000171556] [ENSMUST00000171796] [ENSMUST00000186861] [ENSMUST00000190723]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000086819
AA Change: H59N

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

SMART Domains

Protein: ENSMUSP00000084029
Gene: ENSMUSG00000014602
AA Change: H59N

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: H59N

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

SMART Domains

Protein: ENSMUSP00000108582
Gene: ENSMUSG00000014602
AA Change: H59N

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: H59N

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

SMART Domains

Protein: ENSMUSP00000130717
Gene: ENSMUSG00000014602
AA Change: H59N

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: H59N

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

SMART Domains

Protein: ENSMUSP00000128432
Gene: ENSMUSG00000014602
AA Change: H59N

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

possibly damaging
Transcript: ENSMUST00000186861
AA Change: H59N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141194
Gene: ENSMUSG00000014602
AA Change: H59N

Domain	Start	End	E-Value	Type
KISc	3	109	9.7e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188493

Predicted Effect

probably damaging
Transcript: ENSMUST00000190723
AA Change: H59N

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

SMART Domains

Protein: ENSMUSP00000140163
Gene: ENSMUSG00000014602
AA Change: H59N

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: 99.4%
3x: 98.6%
10x: 97.0%
20x: 93.9%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	C	12: 84,122,375 (GRCm39)	F320L	possibly damaging	Het
Alox12e	T	C	11: 70,212,087 (GRCm39)	K170R	probably damaging	Het
Ano2	T	C	6: 125,969,849 (GRCm39)	S722P	probably benign	Het
Cep192	A	G	18: 67,946,970 (GRCm39)	Y215C	probably benign	Het
Ces2g	A	G	8: 105,695,044 (GRCm39)	N555S	probably benign	Het
Cfap58	C	T	19: 47,950,925 (GRCm39)	Q429*	probably null	Het
Clcnkb	A	G	4: 141,139,640 (GRCm39)	S121P	probably damaging	Het
Cltb	T	A	13: 54,746,564 (GRCm39)	E67D	probably damaging	Het
Ddhd1	A	T	14: 45,846,447 (GRCm39)	L581Q	probably damaging	Het
Dnajc3	T	C	14: 119,190,633 (GRCm39)		probably null	Het
Fgf14	T	A	14: 124,221,234 (GRCm39)	N190I	probably damaging	Het
Galnt17	T	G	5: 130,929,460 (GRCm39)	Y449S	probably damaging	Het
Grin3a	C	T	4: 49,793,033 (GRCm39)		probably null	Het
Gxylt2	A	G	6: 100,764,173 (GRCm39)	N286S	probably damaging	Het
H2-K2	A	G	17: 34,216,113 (GRCm39)	V120A	probably benign	Het
Inpp5f	T	C	7: 128,296,034 (GRCm39)	V168A	probably damaging	Het
Krt24	T	C	11: 99,175,456 (GRCm39)	Q193R	possibly damaging	Het
Krtap5-4	C	A	7: 141,857,351 (GRCm39)	S7*	probably null	Het
Ltn1	A	G	16: 87,229,312 (GRCm39)		probably null	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mep1b	A	T	18: 21,221,632 (GRCm39)	D194V	probably damaging	Het
Mettl25b	A	T	3: 87,834,162 (GRCm39)	M171K	possibly damaging	Het
Orc3	C	T	4: 34,586,503 (GRCm39)	V382M	probably damaging	Het
Pclo	T	A	5: 14,728,665 (GRCm39)		probably benign	Het
Pcolce	T	C	5: 137,607,356 (GRCm39)	H45R	probably damaging	Het
Prf1	T	C	10: 61,138,942 (GRCm39)	V300A	possibly damaging	Het
Prorp	T	C	12: 55,351,101 (GRCm39)	F137L	probably damaging	Het
Prss53	T	C	7: 127,490,037 (GRCm39)	I18V	probably benign	Het
Rnase2b	A	G	14: 51,400,188 (GRCm39)	T90A	probably benign	Het
Rpap1	G	A	2: 119,614,247 (GRCm39)	P50L	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec16b	G	A	1: 157,363,062 (GRCm39)	V298I	probably damaging	Het
Smarcd3	C	T	5: 24,800,746 (GRCm39)	R156Q	probably damaging	Het
St6galnac2	C	T	11: 116,572,731 (GRCm39)	A242T	probably damaging	Het
Syce1l	T	C	8: 114,369,937 (GRCm39)		probably null	Het
Tcam1	T	C	11: 106,174,940 (GRCm39)	C132R	probably damaging	Het
Trpa1	T	C	1: 14,982,605 (GRCm39)	I84V	probably benign	Het
Ttn	G	A	2: 76,717,342 (GRCm39)	R455*	probably null	Het
Ubl5	T	A	9: 20,557,876 (GRCm39)		probably benign	Het
Ubr2	T	A	17: 47,277,141 (GRCm39)	K779*	probably null	Het
Ugt1a10	A	G	1: 87,983,669 (GRCm39)	I156V	probably benign	Het
Unc13b	A	G	4: 43,239,854 (GRCm39)	T3513A	probably damaging	Het
Vmn1r20	C	T	6: 57,409,121 (GRCm39)	T149I	probably benign	Het
Zfp804a	T	A	2: 82,087,201 (GRCm39)	D343E	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
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
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
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'- ACAGCTGTGCACATAAGGATCTG -3'
(R):5'- TGTGACTGCAAGTGGGTCTC -3'

Sequencing Primer
(F):5'- ATCTGATCCTTATAGGTTGGTGATC -3'
(R):5'- AAGTGGGTCTCTGGTCCC -3'

Posted On

2014-10-30