Mutagenetix > Incidental Mutation

Incidental Mutation 'R3861:Kif3a'

276362

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

040788-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53458206-53492794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53488805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 634 (V634A)

Ref Sequence

ENSEMBL: ENSMUSP00000113848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057330] [ENSMUST00000118353] [ENSMUST00000120613] [ENSMUST00000130037] [ENSMUST00000173744]

AlphaFold

P28741

Predicted Effect

probably benign
Transcript: ENSMUST00000057330
AA Change: V607A

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000056197
Gene: ENSMUSG00000018395
AA Change: V607A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118353
AA Change: V634A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113848
Gene: ENSMUSG00000018395
AA Change: V634A

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: V610A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112782
Gene: ENSMUSG00000018395
AA Change: V610A

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: ENSMUST00000130037
AA Change: V94A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000116509
Gene: ENSMUSG00000018395
AA Change: V94A

Domain	Start	End	E-Value	Type
SCOP:d1cm5a_	5	88	2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173744
AA Change: V603A

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

SMART Domains

Protein: ENSMUSP00000133432
Gene: ENSMUSG00000018395
AA Change: V603A

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

0.2637

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (55/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	G	A	12: 18,583,411 (GRCm39)	S157N	probably benign	Het
A830018L16Rik	T	C	1: 11,658,778 (GRCm39)		probably benign	Het
Akip1	C	T	7: 109,306,613 (GRCm39)		probably benign	Het
Anxa5	T	C	3: 36,504,807 (GRCm39)	T252A	probably benign	Het
Arhgef10l	A	G	4: 140,242,798 (GRCm39)	F1072L	possibly damaging	Het
Armc1	C	T	3: 19,189,196 (GRCm39)	R186Q	probably damaging	Het
Atxn2l	A	T	7: 126,101,123 (GRCm39)		probably null	Het
Cadps2	A	G	6: 23,355,860 (GRCm39)	I849T	probably damaging	Het
Ccdc28a	T	A	10: 18,100,743 (GRCm39)	Q28L	probably damaging	Het
Cdh4	T	A	2: 179,515,890 (GRCm39)	V356D	probably damaging	Het
Chd8	T	A	14: 52,474,578 (GRCm39)	Q151L	probably benign	Het
Chgb	T	A	2: 132,635,064 (GRCm39)	H335Q	probably damaging	Het
Col19a1	G	A	1: 24,365,098 (GRCm39)	P506S	probably damaging	Het
Col5a2	T	C	1: 45,419,397 (GRCm39)	T1228A	probably damaging	Het
Cpxm2	A	G	7: 131,656,648 (GRCm39)	V538A	probably benign	Het
Cramp1	A	T	17: 25,216,588 (GRCm39)		probably benign	Het
Cttnbp2	T	C	6: 18,423,832 (GRCm39)	R831G	probably benign	Het
Cyp4f17	A	G	17: 32,747,078 (GRCm39)	D436G	probably damaging	Het
Dcaf6	A	T	1: 165,256,838 (GRCm39)	N48K	probably damaging	Het
Ddx50	C	A	10: 62,478,725 (GRCm39)	V154L	possibly damaging	Het
Dnah9	T	C	11: 65,943,820 (GRCm39)		probably benign	Het
Dnm3	T	A	1: 162,138,974 (GRCm39)	I395L	possibly damaging	Het
Elp2	C	T	18: 24,739,977 (GRCm39)	R68C	probably benign	Het
Frg1	A	T	8: 41,860,820 (GRCm39)		probably null	Het
Fsip2	G	T	2: 82,815,120 (GRCm39)	D3618Y	probably damaging	Het
Gabra2	T	C	5: 71,130,886 (GRCm39)	D314G	probably damaging	Het
Gramd1a	A	C	7: 30,835,365 (GRCm39)	D407E	possibly damaging	Het
Grm5	T	A	7: 87,779,202 (GRCm39)	S881T	possibly damaging	Het
Ikbkb	T	A	8: 23,168,852 (GRCm39)	I216F	possibly damaging	Het
Ltbp1	A	T	17: 75,666,333 (GRCm39)	Y1342F	possibly damaging	Het
Mia2	G	T	12: 59,155,807 (GRCm39)	V508L	probably benign	Het
Mtus2	C	T	5: 148,250,223 (GRCm39)	T155M	probably damaging	Het
Napepld	A	T	5: 21,888,287 (GRCm39)	V54E	probably benign	Het
Nlrc4	T	C	17: 74,752,616 (GRCm39)	E589G	probably benign	Het
Nphp3	G	T	9: 103,916,525 (GRCm39)		probably benign	Het
Nr2f1	T	A	13: 78,343,794 (GRCm39)	R10*	probably null	Het
Nsfl1c	C	A	2: 151,352,824 (GRCm39)		probably null	Het
Or14a258	A	G	7: 86,035,331 (GRCm39)	V179A	possibly damaging	Het
Pcdhgc3	A	G	18: 37,941,581 (GRCm39)	T661A	probably damaging	Het
Pdzrn3	A	G	6: 101,149,332 (GRCm39)	V332A	possibly damaging	Het
Pip4p2	A	G	4: 14,902,506 (GRCm39)	N169S	probably damaging	Het
Pkhd1	C	T	1: 20,271,151 (GRCm39)	C3134Y	probably damaging	Het
Ptprz1	T	C	6: 23,036,894 (GRCm39)	V1131A	probably damaging	Het
Rccd1	T	C	7: 79,970,116 (GRCm39)	E167G	probably benign	Het
Ror1	T	C	4: 100,265,120 (GRCm39)	I198T	possibly damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Scly	C	T	1: 91,230,573 (GRCm39)		probably benign	Het
Scn4a	T	C	11: 106,216,950 (GRCm39)		probably benign	Het
Sh3rf2	T	C	18: 42,286,384 (GRCm39)	S594P	probably damaging	Het
Slc19a1	G	A	10: 76,877,809 (GRCm39)	V115M	possibly damaging	Het
Slc26a6	A	T	9: 108,731,395 (GRCm39)		probably benign	Het
Smg7	C	T	1: 152,728,349 (GRCm39)	R439K	probably null	Het
Spata31e3	T	C	13: 50,400,887 (GRCm39)	K480E	probably benign	Het
Syne2	A	G	12: 76,013,253 (GRCm39)	R2815G	probably damaging	Het
Trim75	G	A	8: 65,435,479 (GRCm39)	R324C	probably damaging	Het
Ucp3	T	C	7: 100,129,458 (GRCm39)	S98P	probably benign	Het
Zscan29	G	C	2: 120,991,212 (GRCm39)	R859G	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
R0131:Kif3a	UTSW	11	53,477,743 (GRCm39)	missense	possibly damaging	0.53
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
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'- CCCTACCCATCATGTACGGTAC -3'
(R):5'- AACGCTCTCCACATTGCTG -3'

Sequencing Primer
(F):5'- CGCAGTAGTGATAAATGCAAGGCC -3'
(R):5'- GTGAATCAGAAAGATATTCTATCCGG -3'

Posted On

2015-04-06