Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Kif3a'

262208

Institutional Source

Beutler Lab

Gene Symbol

Kif3a

Ensembl Gene

ENSMUSG00000018395

Gene Name

kinesin family member 3A

Synonyms

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

MMRRC Submission

038416-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0131 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

53458206-53492794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53477743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 404 (K404R)

Ref Sequence

ENSEMBL: ENSMUSP00000113848 (fasta)

Gene Model

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

AlphaFold

P28741

Predicted Effect

probably benign
Transcript: ENSMUST00000057330
AA Change: K404R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000056197
Gene: ENSMUSG00000018395
AA Change: K404R

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: K404R

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113848
Gene: ENSMUSG00000018395
AA Change: K404R

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

probably benign
Transcript: ENSMUST00000120613
AA Change: K404R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112782
Gene: ENSMUSG00000018395
AA Change: K404R

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

probably benign
Transcript: ENSMUST00000132653

Predicted Effect

probably benign
Transcript: ENSMUST00000173744
AA Change: K404R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133432
Gene: ENSMUSG00000018395
AA Change: K404R

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Dazap1	T	G	10: 80,114,060 (GRCm39)		probably null	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Fat2	A	T	11: 55,164,037 (GRCm39)	S3073T	probably benign	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
Gm16069	T	C	3: 89,088,232 (GRCm39)		probably benign	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Or8u10	T	C	2: 85,915,844 (GRCm39)	I92M	probably damaging	Het
Pkp2	T	C	16: 16,058,577 (GRCm39)		probably benign	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tbc1d9b	T	C	11: 50,026,751 (GRCm39)	I73T	probably benign	Het
Tgtp1	A	G	11: 48,878,159 (GRCm39)	F182S	probably benign	Het
Tmcc3	T	C	10: 94,381,437 (GRCm39)		probably benign	Het
Tmem116	A	G	5: 121,631,845 (GRCm39)		probably benign	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Tusc1	A	T	4: 93,223,070 (GRCm39)	H196Q	probably benign	Het
Ugt2a1	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Zfp879	C	A	11: 50,724,426 (GRCm39)	G210V	probably damaging	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	probably benign	Het

Other mutations in Kif3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Kif3a	APN	11	53,484,350 (GRCm39)	missense	possibly damaging	0.53
IGL01862:Kif3a	APN	11	53,461,368 (GRCm39)	missense	possibly damaging	0.63
IGL02411:Kif3a	APN	11	53,461,525 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Kif3a	UTSW	11	53,469,941 (GRCm39)	missense	probably benign	0.16
R0049:Kif3a	UTSW	11	53,481,560 (GRCm39)	splice site	probably benign
R0049:Kif3a	UTSW	11	53,481,560 (GRCm39)	splice site	probably benign
R0078:Kif3a	UTSW	11	53,469,812 (GRCm39)	missense	probably benign	0.22
R1079:Kif3a	UTSW	11	53,461,408 (GRCm39)	missense	possibly damaging	0.87
R1168:Kif3a	UTSW	11	53,489,139 (GRCm39)	missense	probably damaging	1.00
R1554:Kif3a	UTSW	11	53,489,154 (GRCm39)	missense	probably damaging	0.98
R1817:Kif3a	UTSW	11	53,489,561 (GRCm39)	missense	probably damaging	1.00
R2022:Kif3a	UTSW	11	53,461,408 (GRCm39)	missense	probably damaging	1.00
R2964:Kif3a	UTSW	11	53,469,757 (GRCm39)	missense	probably damaging	1.00
R3861:Kif3a	UTSW	11	53,488,805 (GRCm39)	missense	probably benign	0.33
R3928:Kif3a	UTSW	11	53,461,441 (GRCm39)	missense	probably benign	0.02
R4553:Kif3a	UTSW	11	53,469,745 (GRCm39)	missense	possibly damaging	0.93
R5158:Kif3a	UTSW	11	53,479,578 (GRCm39)	missense	probably benign
R5437:Kif3a	UTSW	11	53,489,553 (GRCm39)	missense	probably damaging	0.99
R6621:Kif3a	UTSW	11	53,469,957 (GRCm39)	missense	probably damaging	1.00
R7028:Kif3a	UTSW	11	53,477,733 (GRCm39)	nonsense	probably null
R7384:Kif3a	UTSW	11	53,469,681 (GRCm39)	missense	probably damaging	0.99
R8182:Kif3a	UTSW	11	53,485,133 (GRCm39)	nonsense	probably null
R8493:Kif3a	UTSW	11	53,489,627 (GRCm39)	nonsense	probably null
R8971:Kif3a	UTSW	11	53,474,189 (GRCm39)	missense	probably damaging	1.00
R9261:Kif3a	UTSW	11	53,484,248 (GRCm39)	small deletion	probably benign
R9577:Kif3a	UTSW	11	53,475,231 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACAGTGCAGGTGGTGTTCC -3'
(R):5'- CTCTGGGCACATGGCTTTTAACAAC -3'

Sequencing Primer
(F):5'- tgggaccaggggaagac -3'
(R):5'- GTAAAACTGCCCAATGCTGTG -3'

Posted On

2015-02-04