Mutagenetix > Incidental Mutations

Incidental Mutation 'R4553:Kif3a'

341786

Institutional Source

Beutler Lab

Gene Symbol

Kif3a

Ensembl Gene

ENSMUSG00000018395

Gene Name

kinesin family member 3A

Synonyms

Kns3, kinesin-II subunit, N-4 kinesin, Kif3, Kifl

MMRRC Submission

041595-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4553 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53567379-53601967 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53578918 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 119 (L119I)

Ref Sequence

ENSEMBL: ENSMUSP00000113848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057330] [ENSMUST00000118353] [ENSMUST00000120613] [ENSMUST00000132496] [ENSMUST00000173744]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057330
AA Change: L119I

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000056197
Gene: ENSMUSG00000018395
AA Change: L119I

Domain	Start	End	E-Value	Type
KISc	12	353	9.79e-187	SMART
coiled coil region	416	593	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118353
AA Change: L119I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113848
Gene: ENSMUSG00000018395
AA Change: L119I

Domain	Start	End	E-Value	Type
KISc	12	353	9.79e-187	SMART
low complexity region	365	418	N/A	INTRINSIC
coiled coil region	443	620	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120613
AA Change: L119I

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112782
Gene: ENSMUSG00000018395
AA Change: L119I

Domain	Start	End	E-Value	Type
KISc	12	353	4.6e-189	SMART
coiled coil region	354	383	N/A	INTRINSIC
coiled coil region	419	596	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132496
AA Change: L118I

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115161
Gene: ENSMUSG00000018395
AA Change: L118I

Domain	Start	End	E-Value	Type
KISc	11	178	4.96e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132653

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140359

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173744
AA Change: L119I

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133432
Gene: ENSMUSG00000018395
AA Change: L119I

Domain	Start	End	E-Value	Type
KISc	12	353	9.79e-187	SMART
low complexity region	365	406	N/A	INTRINSIC
low complexity region	462	473	N/A	INTRINSIC
low complexity region	481	494	N/A	INTRINSIC
low complexity region	498	526	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Nullizygous mutations result in embryonic lethality, failure to synthesize cilia in the embryonic node, randomization of left-right asymmetry and structural abnormalities of the neural tube, pericardium, branchial arches, and somites. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	T	C	5: 114,813,193	Y49C	probably damaging	Het
Adat1	T	C	8: 111,990,280	T32A	probably damaging	Het
Adra2a	T	C	19: 54,046,735	V174A	possibly damaging	Het
Armcx5	T	A	X: 135,746,507	V444D	probably damaging	Het
Cand2	C	A	6: 115,792,211	R661S	probably damaging	Het
Cd274	T	C	19: 29,380,448	V180A	probably benign	Het
Crat	T	C	2: 30,408,217	T157A	probably benign	Het
Cts6	G	A	13: 61,197,593	P230L	probably damaging	Het
Dppa2	A	G	16: 48,310,514	Y3C	possibly damaging	Het
Epgn	A	T	5: 91,027,562	K14*	probably null	Het
Fam71f2	A	G	6: 29,287,706	I210M	probably benign	Het
Gsap	A	T	5: 21,290,571	D79V	probably damaging	Het
Hgfac	T	A	5: 35,042,856	C130S	probably damaging	Het
Ifi35	T	C	11: 101,457,891	V188A	probably damaging	Het
Iqsec2	A	G	X: 152,211,281	H585R	probably benign	Het
Itih4	T	C	14: 30,900,953	L842P	probably damaging	Het
Lrp2	T	C	2: 69,513,285	D910G	probably benign	Het
Lyve1	T	C	7: 110,852,360		probably null	Het
Mtss1l	A	G	8: 110,738,505	T464A	probably damaging	Het
Mx2	A	G	16: 97,552,005	T398A	possibly damaging	Het
Nlrp4e	T	C	7: 23,320,979	M297T	probably benign	Het
Nog	A	G	11: 89,301,422	L200P	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Papolb	T	C	5: 142,529,178	I237V	probably benign	Het
Phf11b	G	A	14: 59,341,285	P11S	probably benign	Het
Plcb1	T	C	2: 135,335,493	S582P	probably benign	Het
Pld1	G	T	3: 28,124,702	R915L	probably benign	Het
Sell	C	T	1: 164,072,116	T34I	probably benign	Het
Slc34a1	G	A	13: 55,412,061		probably null	Het
Slc8b1	T	C	5: 120,529,598	V432A	probably damaging	Het
Tipin	T	A	9: 64,288,103		probably null	Het
Vmn1r117	A	T	7: 20,883,592	F177Y	probably damaging	Het
Xab2	T	C	8: 3,611,015	T700A	probably benign	Het

Other mutations in Kif3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Kif3a	APN	11	53593523	missense	possibly damaging	0.53
IGL01862:Kif3a	APN	11	53570541	missense	possibly damaging	0.63
IGL02411:Kif3a	APN	11	53570698	missense	probably damaging	1.00
R0049:Kif3a	UTSW	11	53590733	splice site	probably benign
R0049:Kif3a	UTSW	11	53590733	splice site	probably benign
R0078:Kif3a	UTSW	11	53578985	missense	probably benign	0.22
R0131:Kif3a	UTSW	11	53586916	missense	possibly damaging	0.53
R1079:Kif3a	UTSW	11	53570581	missense	possibly damaging	0.87
R1168:Kif3a	UTSW	11	53598312	missense	probably damaging	1.00
R1554:Kif3a	UTSW	11	53598327	missense	probably damaging	0.98
R1817:Kif3a	UTSW	11	53598734	missense	probably damaging	1.00
R2022:Kif3a	UTSW	11	53570581	missense	probably damaging	1.00
R2964:Kif3a	UTSW	11	53578930	missense	probably damaging	1.00
R3861:Kif3a	UTSW	11	53597978	missense	probably benign	0.33
R3928:Kif3a	UTSW	11	53570614	missense	probably benign	0.02
R5158:Kif3a	UTSW	11	53588751	missense	probably benign
R5437:Kif3a	UTSW	11	53598726	missense	probably damaging	0.99
R6621:Kif3a	UTSW	11	53579130	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACATGTTGGTACTAAAGGCCAAAC -3'
(R):5'- CCTGTAAGGACAATGGTGGAAC -3'

Sequencing Primer
(F):5'- AGAGTCTTACTATGTAGCCCAGGC -3'
(R):5'- TGGAACACTCAATGTCTGAAAAGTG -3'

Posted On

2015-09-24