Mutagenetix > Incidental Mutations

Incidental Mutation 'R8373:Kif3c'

646553

Institutional Source

Beutler Lab

Gene Symbol

Kif3c

Ensembl Gene

ENSMUSG00000020668

Gene Name

kinesin family member 3C

Synonyms

N-4 kinesin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.332) question?

Stock #

R8373 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3365132-3406494 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3366089 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 37 (V37L)

Ref Sequence

ENSEMBL: ENSMUSP00000020999 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020999
AA Change: V37L

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020999
Gene: ENSMUSG00000020668
AA Change: V37L

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

probably benign
Transcript: ENSMUST00000220210
AA Change: V37L

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	T	G	6: 41,031,688	T231P	possibly damaging	Het
Adgrg6	T	C	10: 14,467,334	T290A	probably benign	Het
Aff4	C	T	11: 53,400,267	Q685*	probably null	Het
Ankmy1	A	G	1: 92,896,094	M150T	probably damaging	Het
Armc1	T	C	3: 19,149,567	Y65C	probably damaging	Het
Armc8	A	G	9: 99,527,099	V222A	probably benign	Het
Bcar1	A	T	8: 111,715,738	Y228*	probably null	Het
Cct2	T	C	10: 117,060,824	D158G	possibly damaging	Het
Cul1	T	A	6: 47,515,063	C426S	possibly damaging	Het
Deup1	G	T	9: 15,592,375	L297M	possibly damaging	Het
Dpp10	A	G	1: 123,854,229	S74P	possibly damaging	Het
Epha4	A	G	1: 77,507,079	Y98H	possibly damaging	Het
Epn3	T	G	11: 94,492,936	D296A	probably damaging	Het
Eri2	A	C	7: 119,772,597	I252S	probably benign	Het
Gm14025	T	A	2: 129,038,171	I612F		Het
Gp9	C	T	6: 87,779,012	T3I	probably benign	Het
H2-Q5	T	A	17: 35,394,456	V55E		Het
Lct	A	T	1: 128,303,840	N757K	probably damaging	Het
Lhx8	A	C	3: 154,324,658	N112K	probably damaging	Het
Loxl3	T	A	6: 83,048,891	S373R	possibly damaging	Het
Mettl4	G	A	17: 94,733,649	T359I	probably damaging	Het
Mpp7	A	G	18: 7,444,096	S109P	probably damaging	Het
Nckap5	A	G	1: 126,026,295	V840A	probably benign	Het
Ncoa4	T	A	14: 32,176,936	L571Q	probably damaging	Het
Olfr453	T	C	6: 42,744,346	F103S	probably damaging	Het
Olfr46	A	T	7: 140,610,295	Y35F	possibly damaging	Het
Phgdh	G	A	3: 98,321,245	T204I	probably damaging	Het
Pla2g4d	C	T	2: 120,277,499	V310M	probably null	Het
Psmd12	C	T	11: 107,497,624	P421L	probably damaging	Het
Ptch1	A	G	13: 63,541,168	Y432H	probably damaging	Het
Rapgef1	G	A	2: 29,710,231	G655S	probably damaging	Het
Rilpl2	C	A	5: 124,478,034	A18S	probably damaging	Het
Srsf7	T	C	17: 80,205,386	R88G	probably benign	Het
St6galnac1	T	C	11: 116,769,233	K85E	possibly damaging	Het
Trip12	A	T	1: 84,795,767	S49R	probably damaging	Het
Wdr48	A	G	9: 119,905,494	T160A	probably damaging	Het
Zfp704	G	A	3: 9,609,442	T93M	unknown	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
R5662:Kif3c	UTSW	12	3367031	missense	probably damaging	0.99
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
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'- AGGCTGCATGCGGATTGAAG -3'
(R):5'- TGCCGTTGAAACCCTGAAG -3'

Sequencing Primer
(F):5'- ACTGATCCCGACCTAGGAGTAG -3'
(R):5'- GTTGAAACCCTGAAGCACTGAGTC -3'

Posted On

2020-09-02