Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01886:Kifc5b'

179147

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kifc5b

Ensembl Gene

ENSMUSG00000024301

Gene Name

kinesin family member C5B

Synonyms

kinesin family c-terminal 5B

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

26917091-26932579 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26932117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 663 (V663A)

Ref Sequence

ENSEMBL: ENSMUSP00000077984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073724] [ENSMUST00000078961]

AlphaFold

E9PUA5

Predicted Effect

probably benign
Transcript: ENSMUST00000073724

SMART Domains

Protein: ENSMUSP00000073402
Gene: ENSMUSG00000024193

Domain	Start	End	E-Value	Type
TUDOR	29	86	5.61e-11	SMART
PHD	89	140	2.81e-8	SMART
PHD	188	238	2.42e0	SMART
low complexity region	410	416	N/A	INTRINSIC
low complexity region	481	495	N/A	INTRINSIC
Pfam:Mtf2_C	523	557	7.7e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000078961
AA Change: V663A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077984
Gene: ENSMUSG00000024301
AA Change: V663A

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
low complexity region	108	117	N/A	INTRINSIC
low complexity region	222	240	N/A	INTRINSIC
KISc	307	670	1.34e-143	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184739

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,659,158	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,730,265	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613	N768K	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Clec7a	A	T	6: 129,463,177		probably benign	Het
Cyp3a13	G	A	5: 137,898,820	P411S	probably damaging	Het
Elavl2	A	G	4: 91,264,093	V129A	probably damaging	Het
Ercc6	T	A	14: 32,569,580	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262	K8I	probably damaging	Het
Esr1	T	A	10: 4,856,861	I259K	probably damaging	Het
Filip1l	A	G	16: 57,571,250	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814	I891F	probably damaging	Het
Kat7	T	C	11: 95,306,133	T27A	probably benign	Het
Kdm1a	A	G	4: 136,561,016		probably null	Het
Lama1	T	G	17: 67,807,797	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984	V279I	probably benign	Het
Mast3	A	T	8: 70,782,139	L774Q	possibly damaging	Het
Med27	C	A	2: 29,413,482	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,169,090		probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	T	C	2: 52,183,845		probably benign	Het
Nlrp1a	T	C	11: 71,123,501	T308A	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,509	Y99C	probably damaging	Het
Olfr926	G	T	9: 38,877,548	C124F	probably damaging	Het
Orc1	T	A	4: 108,603,957		probably null	Het
Pnkp	G	A	7: 44,862,207	A76T	probably damaging	Het
Polr3h	T	C	15: 81,917,390	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,304,447	M62K	unknown	Het
Prpf8	C	A	11: 75,495,744	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,342,042	N778K	probably damaging	Het
Riok3	T	A	18: 12,139,385	N204K	probably damaging	Het
Shank3	A	G	15: 89,531,663	K650E	probably damaging	Het
Sim1	T	A	10: 50,984,315	S758T	probably damaging	Het
Slu7	T	G	11: 43,439,260	N171K	probably damaging	Het
Sult6b2	A	G	6: 142,790,126		probably null	Het
Taf6l	C	T	19: 8,778,086		probably null	Het
Ubtfl1	G	A	9: 18,409,721	V182M	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Kifc5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01337:Kifc5b	APN	17	26,924,744 (GRCm38)	missense	possibly damaging	0.82
FR4449:Kifc5b	UTSW	17	26,924,217 (GRCm38)	missense	probably benign
R0394:Kifc5b	UTSW	17	26,923,082 (GRCm38)	missense	probably benign	0.37
R0800:Kifc5b	UTSW	17	26,923,184 (GRCm38)	missense	probably benign	0.01
R0890:Kifc5b	UTSW	17	26,923,022 (GRCm38)	missense	possibly damaging	0.67
R1122:Kifc5b	UTSW	17	26,924,061 (GRCm38)	missense	probably benign	0.01
R1651:Kifc5b	UTSW	17	26,925,530 (GRCm38)	missense	probably damaging	1.00
R1875:Kifc5b	UTSW	17	26,917,290 (GRCm38)	splice site	probably null
R1955:Kifc5b	UTSW	17	26,926,297 (GRCm38)	critical splice donor site	probably null
R2279:Kifc5b	UTSW	17	26,925,541 (GRCm38)	missense	probably damaging	0.99
R4921:Kifc5b	UTSW	17	26,921,023 (GRCm38)	missense	probably damaging	1.00
R4949:Kifc5b	UTSW	17	26,925,514 (GRCm38)	missense	probably damaging	1.00
R5044:Kifc5b	UTSW	17	26,924,787 (GRCm38)	missense	probably damaging	1.00
R6144:Kifc5b	UTSW	17	26,921,852 (GRCm38)	missense	probably benign	0.01
R6393:Kifc5b	UTSW	17	26,921,842 (GRCm38)	missense	probably benign	0.08
R6484:Kifc5b	UTSW	17	26,924,772 (GRCm38)	missense	probably damaging	1.00
R7075:Kifc5b	UTSW	17	26,925,898 (GRCm38)	missense	probably benign	0.30
R7385:Kifc5b	UTSW	17	26,925,623 (GRCm38)	missense	probably damaging	1.00
R7743:Kifc5b	UTSW	17	26,924,202 (GRCm38)	missense	probably damaging	1.00
R8710:Kifc5b	UTSW	17	26,920,906 (GRCm38)	missense	probably damaging	0.98
R9661:Kifc5b	UTSW	17	26,921,862 (GRCm38)	critical splice donor site	probably null
R9765:Kifc5b	UTSW	17	26,923,265 (GRCm38)	missense	probably damaging	0.98

Posted On

2014-05-07