Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Kif3a'

555341

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53567379-53601967 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53579114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 147 (V147A)

Ref Sequence

ENSEMBL: ENSMUSP00000056197 (fasta)

Gene Model

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

AlphaFold

P28741

Predicted Effect

probably benign
Transcript: ENSMUST00000057330
AA Change: V147A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056197
Gene: ENSMUSG00000018395
AA Change: V147A

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: V147A

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113848
Gene: ENSMUSG00000018395
AA Change: V147A

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: V147A

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112782
Gene: ENSMUSG00000018395
AA Change: V147A

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: V146A

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115161
Gene: ENSMUSG00000018395
AA Change: V146A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132653

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173744
AA Change: V147A

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133432
Gene: ENSMUSG00000018395
AA Change: V147A

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: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	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
R4553:Kif3a	UTSW	11	53578918	missense	possibly damaging	0.93
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
R7028:Kif3a	UTSW	11	53586906	nonsense	probably null
R7384:Kif3a	UTSW	11	53578854	missense	probably damaging	0.99
R8182:Kif3a	UTSW	11	53594306	nonsense	probably null
R8493:Kif3a	UTSW	11	53598800	nonsense	probably null
R8971:Kif3a	UTSW	11	53583362	missense	probably damaging	1.00
R9261:Kif3a	UTSW	11	53593421	small deletion	probably benign
R9577:Kif3a	UTSW	11	53584404	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCACATATTTGGTCACATCGC -3'
(R):5'- AGTTCTAACCCGACTCAGCAG -3'

Sequencing Primer
(F):5'- TTTGGTCACATCGCAAAAGCAG -3'
(R):5'- TTATGCTCAAACGGGACTGC -3'

Posted On

2019-06-07