Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01337:Kifc5b'

74679

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: 0.394) question?

Stock #

IGL01337

Quality Score

Status

Chromosome

Chromosomal Location

27136065-27151553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27143718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 497 (T497A)

Ref Sequence

ENSEMBL: ENSMUSP00000077984 (fasta)

Gene Model

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

AlphaFold

E9PUA5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078961
AA Change: T497A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077984
Gene: ENSMUSG00000024301
AA Change: T497A

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: ENSMUST00000184919

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,645,529 (GRCm39)	Y1025H	probably damaging	Het
Adarb2	T	C	13: 8,620,282 (GRCm39)	L256P	probably benign	Het
Arsj	A	G	3: 126,158,763 (GRCm39)	Y114C	probably damaging	Het
Bdp1	G	A	13: 100,192,700 (GRCm39)	P1378L	probably benign	Het
Clca3a2	T	C	3: 144,800,939 (GRCm39)	Y138C	probably damaging	Het
Dsp	G	A	13: 38,376,663 (GRCm39)	D1483N	probably benign	Het
Etl4	T	C	2: 20,790,198 (GRCm39)	S617P	probably benign	Het
Fbxo34	T	C	14: 47,767,674 (GRCm39)	S345P	probably benign	Het
Gm5420	A	G	10: 21,567,514 (GRCm39)		noncoding transcript	Het
Gpr182	T	A	10: 127,586,655 (GRCm39)	I99F	possibly damaging	Het
Hectd1	A	G	12: 51,849,057 (GRCm39)	I349T	possibly damaging	Het
Mllt3	A	C	4: 87,759,057 (GRCm39)	D330E	probably damaging	Het
Mpp3	T	C	11: 101,891,411 (GRCm39)	T576A	probably benign	Het
Mroh2b	A	G	15: 4,934,506 (GRCm39)	M126V	probably benign	Het
Naalad2	T	G	9: 18,238,669 (GRCm39)	D644A	probably damaging	Het
Or4a74	A	G	2: 89,439,720 (GRCm39)	I242T	probably damaging	Het
Otof	C	A	5: 30,563,121 (GRCm39)	A242S	possibly damaging	Het
Otof	T	C	5: 30,576,856 (GRCm39)	D132G	probably benign	Het
Pdk4	T	A	6: 5,491,869 (GRCm39)	M68L	probably benign	Het
Ptprf	A	G	4: 118,093,488 (GRCm39)	Y385H	probably damaging	Het
Rxrb	A	G	17: 34,255,605 (GRCm39)	N254S	probably damaging	Het
Samd5	T	A	10: 9,504,768 (GRCm39)	Y162F	probably benign	Het
Sapcd2	A	G	2: 25,266,491 (GRCm39)	*392W	probably null	Het
Senp6	T	C	9: 80,043,792 (GRCm39)	Y635H	probably damaging	Het
Serpine1	C	A	5: 137,098,185 (GRCm39)	V163L	probably damaging	Het
Slc15a1	T	C	14: 121,698,091 (GRCm39)	E678G	possibly damaging	Het
Slc22a16	T	C	10: 40,471,310 (GRCm39)	F494L	possibly damaging	Het
Slc5a12	T	A	2: 110,450,718 (GRCm39)	C304*	probably null	Het
Spink1	G	A	18: 43,870,216 (GRCm39)		probably benign	Het
Star	G	A	8: 26,299,892 (GRCm39)	G78E	probably damaging	Het
Stx1a	T	C	5: 135,074,518 (GRCm39)	I203T	probably damaging	Het
Tap2	A	G	17: 34,424,386 (GRCm39)		probably benign	Het
Trim75	T	C	8: 65,436,387 (GRCm39)	D21G	possibly damaging	Het
Vmn1r62	T	A	7: 5,679,144 (GRCm39)	I275N	probably damaging	Het

Other mutations in Kifc5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01886:Kifc5b	APN	17	27,151,091 (GRCm39)	missense	probably damaging	0.99
FR4449:Kifc5b	UTSW	17	27,143,191 (GRCm39)	missense	probably benign
R0394:Kifc5b	UTSW	17	27,142,056 (GRCm39)	missense	probably benign	0.37
R0800:Kifc5b	UTSW	17	27,142,158 (GRCm39)	missense	probably benign	0.01
R0890:Kifc5b	UTSW	17	27,141,996 (GRCm39)	missense	possibly damaging	0.67
R1122:Kifc5b	UTSW	17	27,143,035 (GRCm39)	missense	probably benign	0.01
R1651:Kifc5b	UTSW	17	27,144,504 (GRCm39)	missense	probably damaging	1.00
R1875:Kifc5b	UTSW	17	27,136,264 (GRCm39)	splice site	probably null
R1955:Kifc5b	UTSW	17	27,145,271 (GRCm39)	critical splice donor site	probably null
R2279:Kifc5b	UTSW	17	27,144,515 (GRCm39)	missense	probably damaging	0.99
R4921:Kifc5b	UTSW	17	27,139,997 (GRCm39)	missense	probably damaging	1.00
R4949:Kifc5b	UTSW	17	27,144,488 (GRCm39)	missense	probably damaging	1.00
R5044:Kifc5b	UTSW	17	27,143,761 (GRCm39)	missense	probably damaging	1.00
R6144:Kifc5b	UTSW	17	27,140,826 (GRCm39)	missense	probably benign	0.01
R6393:Kifc5b	UTSW	17	27,140,816 (GRCm39)	missense	probably benign	0.08
R6484:Kifc5b	UTSW	17	27,143,746 (GRCm39)	missense	probably damaging	1.00
R7075:Kifc5b	UTSW	17	27,144,872 (GRCm39)	missense	probably benign	0.30
R7385:Kifc5b	UTSW	17	27,144,597 (GRCm39)	missense	probably damaging	1.00
R7743:Kifc5b	UTSW	17	27,143,176 (GRCm39)	missense	probably damaging	1.00
R8710:Kifc5b	UTSW	17	27,139,880 (GRCm39)	missense	probably damaging	0.98
R9661:Kifc5b	UTSW	17	27,140,836 (GRCm39)	critical splice donor site	probably null
R9765:Kifc5b	UTSW	17	27,142,239 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-10-07