Mutagenetix > Incidental Mutation

Incidental Mutation 'R5085:Kifc2'

387393

Institutional Source

Beutler Lab

Gene Symbol

Kifc2

Ensembl Gene

ENSMUSG00000004187

Gene Name

kinesin family member C2

Synonyms

MMRRC Submission

042674-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76544058-76552396 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76545496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 81 (L81Q)

Ref Sequence

ENSEMBL: ENSMUSP00000004294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004294] [ENSMUST00000066677] [ENSMUST00000081291] [ENSMUST00000176274] [ENSMUST00000177359] [ENSMUST00000230964] [ENSMUST00000230451] [ENSMUST00000231152] [ENSMUST00000229524]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000004294
AA Change: L81Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187
AA Change: L81Q

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: ENSMUST00000066677

SMART Domains

Protein: ENSMUSP00000063317
Gene: ENSMUSG00000053929

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
transmembrane domain	35	52	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC
transmembrane domain	91	108	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC
low complexity region	151	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081291

SMART Domains

Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929

Domain	Start	End	E-Value	Type
SCOP:d1jm7a_	21	88	3e-5	SMART
Blast:RING	27	62	8e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000176274

SMART Domains

Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929

Domain	Start	End	E-Value	Type
low complexity region	3	48	N/A	INTRINSIC
low complexity region	78	91	N/A	INTRINSIC
RING	106	150	1.9e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177359

SMART Domains

Protein: ENSMUSP00000135505
Gene: ENSMUSG00000053929

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
transmembrane domain	35	52	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC
transmembrane domain	91	108	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC
low complexity region	151	163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229513

Predicted Effect

probably damaging
Transcript: ENSMUST00000230964
AA Change: L81Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230124

Predicted Effect

probably benign
Transcript: ENSMUST00000230451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229541

Predicted Effect

probably benign
Transcript: ENSMUST00000231152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230719

Predicted Effect

probably benign
Transcript: ENSMUST00000229524

Meta Mutation Damage Score

0.0855

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

92% (69/75)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,653,837 (GRCm39)	K129*	probably null	Het
Adamts6	A	T	13: 104,443,751 (GRCm39)	D162V	probably damaging	Het
Alms1	C	A	6: 85,597,714 (GRCm39)	P1316T	possibly damaging	Het
AU040320	A	T	4: 126,722,664 (GRCm39)	N394I	possibly damaging	Het
Cacng8	T	C	7: 3,464,096 (GRCm39)	L416P	possibly damaging	Het
Ccdc136	T	A	6: 29,419,313 (GRCm39)	N944K	probably damaging	Het
Clcn1	C	T	6: 42,290,814 (GRCm39)	T896I	probably benign	Het
Col16a1	A	T	4: 129,947,964 (GRCm39)	Y228F	probably damaging	Het
Cyfip1	A	G	7: 55,548,083 (GRCm39)	D561G	probably benign	Het
Ddr1	T	A	17: 35,993,667 (GRCm39)		probably null	Het
Dedd2	A	T	7: 24,918,411 (GRCm39)	L48Q	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dph3b-ps	A	G	13: 106,683,558 (GRCm39)		noncoding transcript	Het
Dppa3	T	C	6: 122,606,891 (GRCm39)	F127S	probably damaging	Het
Dpy19l4	C	T	4: 11,265,943 (GRCm39)		probably null	Het
Flrt3	T	C	2: 140,502,177 (GRCm39)	T484A	probably damaging	Het
Gldc	T	C	19: 30,128,936 (GRCm39)	E179G	probably damaging	Het
Gm14403	A	G	2: 177,200,282 (GRCm39)	E76G	probably benign	Het
Gm6421	G	A	13: 117,494,969 (GRCm39)		noncoding transcript	Het
Grk5	T	C	19: 61,065,122 (GRCm39)	V262A	probably damaging	Het
Grp	A	G	18: 66,013,230 (GRCm39)	Q132R	probably benign	Het
Hap1	A	G	11: 100,246,537 (GRCm39)	F123L	probably damaging	Het
Hrc	A	G	7: 44,986,445 (GRCm39)	D532G	probably damaging	Het
Igsf9b	C	A	9: 27,228,733 (GRCm39)	F164L	probably benign	Het
Irag1	G	T	7: 110,470,700 (GRCm39)	L672I	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kansl1	C	T	11: 104,315,168 (GRCm39)	R290Q	probably damaging	Het
Klrc3	T	C	6: 129,616,538 (GRCm39)	R160G	probably damaging	Het
Mal	A	G	2: 127,482,193 (GRCm39)	M70T	probably benign	Het
Mep1a	T	G	17: 43,789,035 (GRCm39)	R580S	probably damaging	Het
Methig1	A	T	15: 100,251,130 (GRCm39)	I14F	probably damaging	Het
Mtf1	T	C	4: 124,715,101 (GRCm39)	L242P	probably damaging	Het
Nfkb1	C	A	3: 135,309,568 (GRCm39)	A509S	probably benign	Het
Or2h2b-ps1	C	G	17: 37,480,858 (GRCm39)	S227T	probably benign	Het
Or2n1b	G	A	17: 38,460,003 (GRCm39)	D175N	probably damaging	Het
Or5ac24	A	T	16: 59,165,449 (GRCm39)	I205K	probably damaging	Het
Or7a36	G	T	10: 78,819,928 (GRCm39)	M101I	probably benign	Het
Or8k23	A	T	2: 86,186,318 (GRCm39)	M136K	probably damaging	Het
Pabpc2	A	T	18: 39,907,635 (GRCm39)	N300I	probably damaging	Het
Peg10	C	T	6: 4,755,864 (GRCm39)		probably benign	Het
Ppp1r3a	T	A	6: 14,719,603 (GRCm39)	D437V	probably damaging	Het
Prickle1	A	G	15: 93,398,783 (GRCm39)	S682P	probably damaging	Het
Prkab2	T	C	3: 97,580,308 (GRCm39)		probably benign	Het
Pus3	T	A	9: 35,476,932 (GRCm39)	L243Q	possibly damaging	Het
Relch	A	G	1: 105,605,905 (GRCm39)	S182G	probably damaging	Het
Rgs19	G	A	2: 181,331,336 (GRCm39)	T99M	possibly damaging	Het
Ripk2	A	G	4: 16,127,663 (GRCm39)	S360P	possibly damaging	Het
Rock1	A	G	18: 10,140,210 (GRCm39)	I127T	probably damaging	Het
Serpinb10	T	G	1: 107,469,947 (GRCm39)	M143R	probably damaging	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Skint6	T	A	4: 113,093,465 (GRCm39)	Q226L	probably damaging	Het
Slc6a19	T	C	13: 73,839,872 (GRCm39)	M137V	probably benign	Het
Supv3l1	A	T	10: 62,271,291 (GRCm39)	N415K	probably benign	Het
Tekt4	A	G	17: 25,692,749 (GRCm39)	R192G	probably damaging	Het
Trgv7	A	T	13: 19,362,598 (GRCm39)	K96*	probably null	Het
Tshz1	T	C	18: 84,032,053 (GRCm39)	N785S	probably benign	Het
Usb1	A	G	8: 96,070,679 (GRCm39)	T202A	probably damaging	Het
Utp18	A	T	11: 93,761,363 (GRCm39)	D348E	possibly damaging	Het
Vmn1r42	T	G	6: 89,821,598 (GRCm39)	I324L	probably benign	Het
Wnt8a	A	T	18: 34,678,656 (GRCm39)	R157*	probably null	Het
Ypel1	A	G	16: 16,902,472 (GRCm39)		probably null	Het
Zfp235	A	G	7: 23,836,546 (GRCm39)	K31E	probably damaging	Het
Zhx2	G	C	15: 57,686,089 (GRCm39)	W486S	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
R0034:Kifc2	UTSW	15	76,551,300 (GRCm39)	missense	probably benign	0.18
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
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'- GTAGGTGCATACTAGGAGCTG -3'
(R):5'- TCACCAGGCTGTGAAGGAAG -3'

Sequencing Primer
(F):5'- GCATACTAGGAGCTGCTGGG -3'
(R):5'- GTAAGAACCAAAGCAGAGGTGTTG -3'

Posted On

2016-06-06