Mutagenetix > Incidental Mutation

Incidental Mutation 'R1019:Kifc1'

96801

Institutional Source

Beutler Lab

Gene Symbol

Kifc1

Ensembl Gene

ENSMUSG00000079553

Gene Name

kinesin family member C1

Synonyms

kinesin family c-terminal 5A, Knsl2a, Tctex-7, KNSL2, Kifc5a, Gm4137, Tctex7a, Tctex7, HSET, Tctex-7A

MMRRC Submission

039123-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1019 (G1)

Quality Score

124

Status

Not validated

Chromosome

Chromosomal Location

33875666-33890661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33884711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 195 (R195C)

Ref Sequence

ENSEMBL: ENSMUSP00000133758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114361] [ENSMUST00000173386] [ENSMUST00000173492]

AlphaFold

Q9QWT9

Predicted Effect

probably benign
Transcript: ENSMUST00000114361

SMART Domains

Protein: ENSMUSP00000110001
Gene: ENSMUSG00000079553

Domain	Start	End	E-Value	Type
low complexity region	65	76	N/A	INTRINSIC
Blast:KISc	82	155	2e-12	BLAST
low complexity region	156	179	N/A	INTRINSIC
KISc	246	609	1.77e-143	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172608

Predicted Effect

probably benign
Transcript: ENSMUST00000173386
AA Change: R195C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000133758
Gene: ENSMUSG00000079553
AA Change: R195C

Domain	Start	End	E-Value	Type
Blast:KISc	67	204	4e-31	BLAST
low complexity region	206	218	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173492
AA Change: R213C

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

SMART Domains

Protein: ENSMUSP00000134572
Gene: ENSMUSG00000079553
AA Change: R213C

Domain	Start	End	E-Value	Type
low complexity region	108	119	N/A	INTRINSIC
low complexity region	224	242	N/A	INTRINSIC
KISc	309	672	1.77e-143	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173885

Predicted Effect

probably benign
Transcript: ENSMUST00000173982

SMART Domains

Protein: ENSMUSP00000133520
Gene: ENSMUSG00000079553

Domain	Start	End	E-Value	Type
Blast:KISc	2	44	8e-22	BLAST
PDB:2REP\|A	2	51	6e-20	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185129

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	C	8: 120,145,470	E46Q	probably damaging	Het
9130401M01Rik	A	G	15: 58,022,427	I353T	possibly damaging	Het
A830031A19Rik	G	A	11: 24,049,438	R53C	unknown	Het
Abcc6	T	C	7: 46,014,107	R378G	possibly damaging	Het
Adam10	A	G	9: 70,761,640	N413D	probably benign	Het
Csmd2	T	C	4: 128,522,014	V2712A	probably benign	Het
Dnhd1	T	C	7: 105,709,171	F3289S	probably damaging	Het
Hectd1	A	G	12: 51,748,657	S2330P	probably damaging	Het
Ift74	C	T	4: 94,635,835	A196V	probably benign	Het
Lipo2	A	T	19: 33,730,857	C252*	probably null	Het
Mrgpra1	C	G	7: 47,335,085	C282S	probably benign	Het
Nfatc2	A	T	2: 168,504,879	L765Q	probably damaging	Het
Olfr355	A	G	2: 36,927,752	F121L	probably benign	Het
Olfr541	C	T	7: 140,704,494	P81L	probably damaging	Het
Otof	C	A	5: 30,370,743	V1924L	probably damaging	Het
Pdhb	T	C	14: 8,171,442	Q62R	probably benign	Het
Plbd1	A	G	6: 136,651,905	V55A	probably benign	Het
Poteg	T	A	8: 27,447,824	F3I	possibly damaging	Het
Rptor	A	G	11: 119,843,743	D46G	probably damaging	Het
Slc18a1	C	T	8: 69,075,033		probably null	Het
Slc37a1	A	G	17: 31,315,594	N80S	probably benign	Het
Slc6a18	T	A	13: 73,677,879	R17S	probably damaging	Het
Spata31d1a	A	G	13: 59,702,368	S649P	probably benign	Het
Syngr3	G	T	17: 24,687,560	Q94K	possibly damaging	Het
Tgm2	C	A	2: 158,124,154	E527*	probably null	Het
Tnc	T	A	4: 63,962,082	T1952S	probably damaging	Het
Ubqln3	C	T	7: 104,141,386	R499Q	probably benign	Het
Uck1	A	G	2: 32,256,193	V230A	possibly damaging	Het
Unc13d	G	A	11: 116,068,074	R754C	probably benign	Het
Zfp708	C	T	13: 67,074,098	A73T	probably benign	Het

Other mutations in Kifc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02707:Kifc1	APN	17	33881493	nonsense	probably null
R0540:Kifc1	UTSW	17	33886647	missense	probably damaging	0.98
R0607:Kifc1	UTSW	17	33886647	missense	probably damaging	0.98
R1218:Kifc1	UTSW	17	33884711	missense	probably benign	0.02
R1219:Kifc1	UTSW	17	33884711	missense	probably benign	0.02
R1222:Kifc1	UTSW	17	33884711	missense	probably benign	0.02
R1374:Kifc1	UTSW	17	33883875	missense	probably benign	0.12
R1523:Kifc1	UTSW	17	33883662	missense	probably benign	0.23
R1818:Kifc1	UTSW	17	33884711	missense	probably benign	0.02
R1958:Kifc1	UTSW	17	33884711	missense	probably benign	0.02
R1960:Kifc1	UTSW	17	33884587	critical splice donor site	probably null
R5439:Kifc1	UTSW	17	33886665	missense	probably damaging	1.00
R5941:Kifc1	UTSW	17	33883085	splice site	probably benign
R6643:Kifc1	UTSW	17	33885855	missense	probably benign	0.23
R6663:Kifc1	UTSW	17	33881456	unclassified	probably benign
R6724:Kifc1	UTSW	17	33886733	splice site	probably null
R7033:Kifc1	UTSW	17	33883697	missense	probably damaging	1.00
R7498:Kifc1	UTSW	17	33883872	missense	probably benign
R7515:Kifc1	UTSW	17	33884803	missense	probably damaging	1.00
R7733:Kifc1	UTSW	17	33883569	missense	probably damaging	1.00
R7803:Kifc1	UTSW	17	33884740	missense	probably benign
R7947:Kifc1	UTSW	17	33883875	missense	probably benign	0.12
R8024:Kifc1	UTSW	17	33883203	missense	probably damaging	1.00
R8979:Kifc1	UTSW	17	33883254	missense	possibly damaging	0.56
R9259:Kifc1	UTSW	17	33882191	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GGAAGCTCTCTCAGAGCAACACTAAG -3'
(R):5'- ACTCAAACGCTGGAACTGGAGAAC -3'

Sequencing Primer
(F):5'- TCTTCCCAAGTGCCTGAGAG -3'
(R):5'- ACTGGAGAACCGGGGTC -3'

Posted On

2014-01-05