Mutagenetix > Incidental Mutations

Incidental Mutation 'R5662:Kif3c'

444149

Institutional Source

Beutler Lab

Gene Symbol

Kif3c

Ensembl Gene

ENSMUSG00000020668

Gene Name

kinesin family member 3C

Synonyms

N-4 kinesin

MMRRC Submission

043305-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R5662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3365132-3406494 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3367031 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 351 (Y351N)

Ref Sequence

ENSEMBL: ENSMUSP00000151286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020999] [ENSMUST00000220210]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020999
AA Change: Y351N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020999
Gene: ENSMUSG00000020668
AA Change: Y351N

Domain	Start	End	E-Value	Type
KISc	8	375	5.43e-171	SMART
low complexity region	404	421	N/A	INTRINSIC
low complexity region	435	443	N/A	INTRINSIC
low complexity region	486	505	N/A	INTRINSIC
Blast:KISc	508	579	3e-8	BLAST
low complexity region	580	602	N/A	INTRINSIC
Blast:KISc	603	666	1e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217965

Predicted Effect

probably damaging
Transcript: ENSMUST00000220210
AA Change: Y351N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220255

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 79,100,107	V1542D	possibly damaging	Het
Acsm4	T	G	7: 119,694,800	N131K	possibly damaging	Het
Ankrd54	A	G	15: 79,062,614	S62P	possibly damaging	Het
Ccdc186	A	G	19: 56,793,488	I753T	probably benign	Het
Cers2	C	T	3: 95,320,984	R112C	probably damaging	Het
Col6a4	C	G	9: 106,068,001	R971S	probably damaging	Het
Ctsf	T	C	19: 4,856,578	S178P	probably damaging	Het
D430042O09Rik	A	G	7: 125,842,703	R595G	probably benign	Het
Dennd4c	C	T	4: 86,795,288	T492I	probably benign	Het
Dhx8	A	G	11: 101,766,758	K1212E	possibly damaging	Het
Dnah8	A	G	17: 30,737,333	T2096A	probably damaging	Het
Ephb4	A	T	5: 137,372,195	I886F	probably damaging	Het
Eprs	T	G	1: 185,394,425	N519K	possibly damaging	Het
Fam3c	T	C	6: 22,355,062		probably benign	Het
Galnt17	G	A	5: 131,086,006	R219C	probably damaging	Het
Gm10645	A	G	8: 83,165,857		probably benign	Het
Gpr132	G	A	12: 112,852,796	R137C	probably damaging	Het
Hydin	T	G	8: 110,580,709	S3907A	probably benign	Het
Ighv1-49	A	T	12: 115,055,407	V56E	probably damaging	Het
Igtp	A	G	11: 58,206,279	D92G	probably damaging	Het
Itga1	C	T	13: 114,986,171	V750I	probably benign	Het
Klhdc1	T	A	12: 69,283,165	I356N	probably benign	Het
Lrrc34	T	C	3: 30,631,324	Y292C	probably benign	Het
Ly75	G	A	2: 60,352,381	T526M	probably damaging	Het
Mroh4	A	T	15: 74,625,428	D181E	possibly damaging	Het
Nutm1	T	C	2: 112,249,300	N757D	probably benign	Het
Olfr24	A	G	9: 18,755,600	F12L	probably damaging	Het
Olfr384	T	C	11: 73,603,179	F200L	probably benign	Het
Olfr466	T	C	13: 65,152,253	F10L	possibly damaging	Het
Olfr811	T	C	10: 129,802,307	T73A	possibly damaging	Het
Paxbp1	G	A	16: 91,037,397	T167M	probably benign	Het
Pnpla7	A	G	2: 25,052,384	D1238G	probably damaging	Het
Pom121l2	T	C	13: 21,982,188	S210P	probably benign	Het
Ripor3	T	G	2: 167,993,556	N165T	probably benign	Het
Serpine3	T	G	14: 62,670,842	S106R	probably benign	Het
Slc25a11	G	A	11: 70,645,419	R158*	probably null	Het
Slc26a6	G	A	9: 108,859,339	V506M	possibly damaging	Het
Slc45a2	A	G	15: 11,022,083	K304E	probably benign	Het
Slc4a4	C	T	5: 89,028,244	L25F	probably damaging	Het
Smarcb1	T	C	10: 75,904,570	N267S	possibly damaging	Het
Spink6	C	A	18: 44,074,414	Q24K	possibly damaging	Het
Srebf2	T	C	15: 82,195,003	S811P	probably benign	Het
Ssc4d	A	G	5: 135,960,894	*587R	probably null	Het
Sult2a8	C	T	7: 14,427,840	R27H	probably benign	Het
Sun2	C	T	15: 79,738,868	A90T	probably benign	Het
Ubr7	T	C	12: 102,768,267	S267P	probably benign	Het
Wdr55	G	A	18: 36,760,395	V37M	possibly damaging	Het
Xdh	C	T	17: 73,941,115	G45S	probably damaging	Het
Zfp638	T	A	6: 83,943,129	S570T	probably damaging	Het

Other mutations in Kif3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0049:Kif3c	UTSW	12	3367090	missense	possibly damaging	0.91
R0049:Kif3c	UTSW	12	3367090	missense	possibly damaging	0.91
R0189:Kif3c	UTSW	12	3365989	missense	probably benign	0.10
R0727:Kif3c	UTSW	12	3366776	missense	probably benign	0.01
R0885:Kif3c	UTSW	12	3365981	start codon destroyed	probably benign	0.00
R1796:Kif3c	UTSW	12	3367299	missense	probably benign	0.01
R2229:Kif3c	UTSW	12	3366671	missense	probably benign	0.01
R4728:Kif3c	UTSW	12	3365873	start gained	probably benign
R4870:Kif3c	UTSW	12	3401735	missense	probably damaging	1.00
R5586:Kif3c	UTSW	12	3389656	missense	probably benign	0.41
R6969:Kif3c	UTSW	12	3366114	missense	probably benign	0.30
R7216:Kif3c	UTSW	12	3366126	missense	probably benign	0.06
R7372:Kif3c	UTSW	12	3387592	missense	probably benign	0.03
R7533:Kif3c	UTSW	12	3366510	missense	probably damaging	1.00
R8373:Kif3c	UTSW	12	3366089	missense	probably benign	0.44
X0052:Kif3c	UTSW	12	3367027	missense	probably benign	0.30
X0064:Kif3c	UTSW	12	3366868	missense	probably damaging	1.00
Z1177:Kif3c	UTSW	12	3367245	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATCAATCTCTCGCTGTCCGC -3'
(R):5'- AATCACGGACCCCTCTGGATAG -3'

Sequencing Primer
(F):5'- CTCGCTGTCCGCCCTGG -3'
(R):5'- GGCAGACACGGCCTTCTTTC -3'

Posted On

2016-11-09