Mutagenetix > Incidental Mutation

Incidental Mutation 'R0034:Kifc2'

64605

Institutional Source

Beutler Lab

Gene Symbol

Kifc2

Ensembl Gene

ENSMUSG00000004187

Gene Name

kinesin family member C2

Synonyms

MMRRC Submission

038328-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0034 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

76544058-76552396 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76551300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 613 (C613F)

Ref Sequence

ENSEMBL: ENSMUSP00000155536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004294] [ENSMUST00000037551] [ENSMUST00000037824] [ENSMUST00000135388] [ENSMUST00000230451] [ENSMUST00000230964]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000004294
AA Change: C698F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187
AA Change: C698F

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	36	45	N/A	INTRINSIC
low complexity region	117	129	N/A	INTRINSIC
low complexity region	179	192	N/A	INTRINSIC
coiled coil region	195	235	N/A	INTRINSIC
coiled coil region	274	345	N/A	INTRINSIC
KISc	407	740	3.21e-141	SMART
low complexity region	745	781	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037551

SMART Domains

Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819

Domain	Start	End	E-Value	Type
ANK	70	99	2.5e3	SMART
ANK	103	132	3.41e-3	SMART
ANK	136	165	2.66e-5	SMART
ANK	231	260	2.58e-3	SMART
ANK	264	293	4.03e-5	SMART
low complexity region	323	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037824

SMART Domains

Protein: ENSMUSP00000036591
Gene: ENSMUSG00000033837

Domain	Start	End	E-Value	Type
FH	62	152	2.71e-34	SMART
low complexity region	183	194	N/A	INTRINSIC
low complexity region	331	345	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230207

Predicted Effect

probably benign
Transcript: ENSMUST00000230451
AA Change: C613F

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000230964

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (64/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no apparent defects in development or behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	C	T	7: 136,989,321 (GRCm39)	R60Q	probably benign	Het
Angpt4	C	T	2: 151,771,311 (GRCm39)	T209I	probably benign	Het
Ap3b1	T	C	13: 94,616,393 (GRCm39)		probably benign	Het
Aplp1	A	C	7: 30,143,867 (GRCm39)	V56G	probably damaging	Het
Asns	G	A	6: 7,676,299 (GRCm39)	P419L	probably damaging	Het
Atxn7	A	T	14: 14,100,846 (GRCm38)	H844L	probably damaging	Het
Cd14	A	G	18: 36,859,288 (GRCm39)	Y56H	probably benign	Het
Cd300lb	C	T	11: 114,819,225 (GRCm39)	V135I	probably damaging	Het
Cep152	C	T	2: 125,425,813 (GRCm39)	A851T	probably benign	Het
Cfap74	C	T	4: 155,545,344 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,175,708 (GRCm39)	I47L	probably benign	Het
Dnaaf9	T	C	2: 130,578,492 (GRCm39)	H664R	probably damaging	Het
Eef1d	T	C	15: 75,774,808 (GRCm39)	T200A	probably benign	Het
Exoc1l	A	G	5: 76,664,377 (GRCm39)	I155M	probably damaging	Het
Faap100	A	T	11: 120,262,973 (GRCm39)	M795K	probably benign	Het
Gabpb1	C	T	2: 126,500,454 (GRCm39)	R15Q	possibly damaging	Het
Gata4	C	A	14: 63,438,933 (GRCm39)	M381I	probably benign	Het
Gm5114	A	G	7: 39,058,282 (GRCm39)	S446P	possibly damaging	Het
Gnb1	T	A	4: 155,636,146 (GRCm39)	N155K	probably benign	Het
Haspin	G	A	11: 73,029,044 (GRCm39)	T15M	probably damaging	Het
Heatr5a	A	G	12: 51,971,955 (GRCm39)	L745P	probably damaging	Het
Kcng3	T	A	17: 83,895,812 (GRCm39)		probably benign	Het
Kif15	A	T	9: 122,828,350 (GRCm39)	N887I	possibly damaging	Het
Kif26a	T	C	12: 112,135,397 (GRCm39)		probably benign	Het
Kif9	G	A	9: 110,348,679 (GRCm39)	C738Y	probably benign	Het
Klf12	A	G	14: 100,224,865 (GRCm39)		probably null	Het
Lrp1	A	T	10: 127,381,520 (GRCm39)	I3826N	probably benign	Het
Map2k4	A	G	11: 65,610,437 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,093,913 (GRCm39)	S2006P	probably damaging	Het
Or51m1	T	C	7: 103,578,708 (GRCm39)	V226A	probably benign	Het
Pax4	T	C	6: 28,442,448 (GRCm39)	T285A	probably benign	Het
Pcdhb5	A	G	18: 37,455,137 (GRCm39)	N506D	probably damaging	Het
Pkhd1l1	G	A	15: 44,367,405 (GRCm39)	G768S	probably benign	Het
Plb1	G	T	5: 32,430,457 (GRCm39)	G138V	probably benign	Het
Poln	A	C	5: 34,272,762 (GRCm39)	V398G	possibly damaging	Het
Poteg	A	G	8: 27,952,105 (GRCm39)		probably benign	Het
Rapgef1	C	A	2: 29,614,780 (GRCm39)		probably benign	Het
Rbm43	A	T	2: 51,815,722 (GRCm39)	D166E	probably benign	Het
Rhobtb2	T	C	14: 70,026,137 (GRCm39)	T602A	probably benign	Het
Samd3	G	A	10: 26,147,398 (GRCm39)		probably benign	Het
Sbno2	A	C	10: 79,894,174 (GRCm39)		probably benign	Het
Sec1	A	G	7: 45,328,759 (GRCm39)	V96A	probably benign	Het
Senp7	A	C	16: 55,973,933 (GRCm39)	S385R	possibly damaging	Het
Sgk3	T	C	1: 9,955,902 (GRCm39)	V301A	probably damaging	Het
Sgpl1	A	T	10: 60,938,392 (GRCm39)	M467K	probably damaging	Het
Slc22a26	A	G	19: 7,779,618 (GRCm39)	I66T	probably benign	Het
Stra6	G	A	9: 58,058,752 (GRCm39)		probably null	Het
Tfrc	T	A	16: 32,434,214 (GRCm39)		probably null	Het
Tmem30b	T	C	12: 73,592,779 (GRCm39)	Y112C	probably damaging	Het
Trap1	A	T	16: 3,886,894 (GRCm39)		probably benign	Het
Trpc1	A	G	9: 95,631,814 (GRCm39)	S43P	probably damaging	Het
Tsku	T	C	7: 98,001,870 (GRCm39)	T154A	possibly damaging	Het
Uroc1	T	C	6: 90,322,292 (GRCm39)	V272A	probably damaging	Het
Vmn1r69	T	A	7: 10,314,738 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,435 (GRCm39)	W364R	probably damaging	Het
Wnk2	G	T	13: 49,221,556 (GRCm39)	T377K	possibly damaging	Het
Zfta	C	A	19: 7,397,724 (GRCm39)	H90Q	probably damaging	Het
Zscan20	T	C	4: 128,479,455 (GRCm39)	N1012S	probably damaging	Het

Other mutations in Kifc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Kifc2	APN	15	76,551,662 (GRCm39)	utr 3 prime	probably benign
IGL01341:Kifc2	APN	15	76,547,098 (GRCm39)	critical splice donor site	probably null
IGL02161:Kifc2	APN	15	76,550,245 (GRCm39)	missense	probably damaging	1.00
IGL02675:Kifc2	APN	15	76,547,179 (GRCm39)	missense	probably damaging	1.00
IGL02997:Kifc2	APN	15	76,548,539 (GRCm39)	missense	possibly damaging	0.83
R1818:Kifc2	UTSW	15	76,550,281 (GRCm39)	missense	probably damaging	1.00
R1961:Kifc2	UTSW	15	76,547,025 (GRCm39)	missense	probably damaging	1.00
R2104:Kifc2	UTSW	15	76,545,454 (GRCm39)	missense	probably damaging	0.99
R2149:Kifc2	UTSW	15	76,546,421 (GRCm39)	missense	probably benign	0.00
R3086:Kifc2	UTSW	15	76,551,452 (GRCm39)	missense	probably benign	0.01
R4704:Kifc2	UTSW	15	76,547,177 (GRCm39)	splice site	probably null
R4782:Kifc2	UTSW	15	76,548,548 (GRCm39)	missense	possibly damaging	0.89
R4834:Kifc2	UTSW	15	76,545,511 (GRCm39)	start codon destroyed	probably null	0.48
R5085:Kifc2	UTSW	15	76,545,496 (GRCm39)	missense	probably damaging	1.00
R5160:Kifc2	UTSW	15	76,547,177 (GRCm39)	missense	probably damaging	1.00
R5253:Kifc2	UTSW	15	76,550,481 (GRCm39)	missense	possibly damaging	0.94
R5543:Kifc2	UTSW	15	76,551,242 (GRCm39)	missense	probably damaging	0.99
R5786:Kifc2	UTSW	15	76,548,578 (GRCm39)	missense	probably damaging	1.00
R5805:Kifc2	UTSW	15	76,546,353 (GRCm39)	missense	probably benign	0.00
R7290:Kifc2	UTSW	15	76,544,904 (GRCm39)	missense	probably damaging	1.00
R7311:Kifc2	UTSW	15	76,547,010 (GRCm39)	missense	probably damaging	1.00
R7511:Kifc2	UTSW	15	76,545,537 (GRCm39)	missense	possibly damaging	0.50
R7782:Kifc2	UTSW	15	76,548,328 (GRCm39)	missense	probably benign	0.00
R8816:Kifc2	UTSW	15	76,548,371 (GRCm39)	missense	probably damaging	1.00
R8834:Kifc2	UTSW	15	76,551,250 (GRCm39)	missense	probably damaging	1.00
R9010:Kifc2	UTSW	15	76,550,885 (GRCm39)	missense	possibly damaging	0.69
R9574:Kifc2	UTSW	15	76,546,397 (GRCm39)	missense	probably damaging	1.00
Z1177:Kifc2	UTSW	15	76,545,488 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGACTTTACGTGCAGCGTCTCC -3'
(R):5'- AACTTGAGCGAGCAGATGGTCTCC -3'

Sequencing Primer
(F):5'- CAGAGTTTCTAGCTCCCTGAAAG -3'
(R):5'- AGCAGATGGTCTCCCCGAG -3'

Posted On

2013-08-06