Mutagenetix > Incidental Mutations

Incidental Mutation 'R3723:Kif18b'

270638

Institutional Source

Beutler Lab

Gene Symbol

Kif18b

Ensembl Gene

ENSMUSG00000051378

Gene Name

kinesin family member 18B

Synonyms

3000004C01Rik, N-8 kinesin

MMRRC Submission

040714-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102905529-102925124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102916276 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 78 (F78L)

Ref Sequence

ENSEMBL: ENSMUSP00000021311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021311]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021311
AA Change: F78L

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

SMART Domains

Protein: ENSMUSP00000021311
Gene: ENSMUSG00000051378
AA Change: F78L

Domain	Start	End	E-Value	Type
KISc	7	361	1.47e-158	SMART
coiled coil region	368	404	N/A	INTRINSIC
low complexity region	510	522	N/A	INTRINSIC
low complexity region	676	682	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181125

Meta Mutation Damage Score

0.4847

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

95% (38/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 9,016,853	V5167A	possibly damaging	Het
Ano5	A	G	7: 51,576,528	Y510C	probably damaging	Het
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Apob	A	T	12: 8,006,327	Q1570L	probably damaging	Het
Apob	A	G	12: 8,011,763	N3415S	possibly damaging	Het
Arsk	T	A	13: 76,066,653	I361F	probably damaging	Het
C9	G	A	15: 6,483,080	E228K	possibly damaging	Het
Celsr2	A	G	3: 108,397,415		probably benign	Het
Cfap53	A	G	18: 74,359,569	I455V	probably benign	Het
Ckap4	A	G	10: 84,528,392	L269P	probably damaging	Het
Dnah7a	T	A	1: 53,447,346	D3352V	probably benign	Het
Dync2h1	A	T	9: 7,041,658	M3335K	probably benign	Het
Fam171a1	A	G	2: 3,220,375		probably benign	Het
Glis3	A	T	19: 28,262,591	C97*	probably null	Het
Gm13101	T	C	4: 143,966,681	T76A	probably benign	Het
Gm14221	C	G	2: 160,568,427		noncoding transcript	Het
Gm8603	A	C	17: 13,516,813		probably null	Het
Gm9767	G	T	10: 26,078,571		probably benign	Het
Kctd16	A	G	18: 40,258,859	T167A	possibly damaging	Het
Mefv	A	G	16: 3,708,194		probably null	Het
Mipol1	C	A	12: 57,457,092	L349I	probably damaging	Het
Myo10	T	C	15: 25,803,288	V1527A	probably damaging	Het
Naip5	G	T	13: 100,223,014	Y571*	probably null	Het
Npl	A	G	1: 153,515,464	F182L	probably benign	Het
Pan3	T	A	5: 147,503,208		probably benign	Het
Pcdh15	A	T	10: 74,645,848	T342S	probably benign	Het
Pcdhga1	A	G	18: 37,662,992	T350A	possibly damaging	Het
Prdm4	A	G	10: 85,899,281	S666P	probably damaging	Het
Rere	A	G	4: 150,468,795	E148G	probably damaging	Het
Scube2	T	C	7: 109,808,406		probably benign	Het
Sptbn1	A	G	11: 30,137,335	S1035P	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Supt3	A	G	17: 44,994,387	D108G	probably damaging	Het
Tnfsf13b	A	G	8: 10,031,545	I236V	possibly damaging	Het
Tns1	T	C	1: 73,924,940	S1511G	probably damaging	Het
Tpm1	G	A	9: 67,031,945		probably benign	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Vmn1r117	T	A	7: 20,883,455	I223F	probably damaging	Het
Vmn2r91	G	A	17: 18,085,278		probably null	Het
Zfp30	A	G	7: 29,793,353	E344G	probably damaging	Het

Other mutations in Kif18b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Kif18b	APN	11	102914675	missense	probably damaging	0.99
IGL01570:Kif18b	APN	11	102912391	missense	probably benign	0.04
IGL02965:Kif18b	APN	11	102916512	start gained	probably benign
IGL02997:Kif18b	APN	11	102909084	missense	probably damaging	1.00
IGL03135:Kif18b	APN	11	102914260	missense	probably damaging	1.00
IGL02988:Kif18b	UTSW	11	102908320	missense	probably damaging	1.00
R0541:Kif18b	UTSW	11	102915175	missense	probably damaging	0.98
R1446:Kif18b	UTSW	11	102914699	missense	probably damaging	0.99
R1674:Kif18b	UTSW	11	102913060	missense	probably benign	0.04
R1729:Kif18b	UTSW	11	102915541	critical splice donor site	probably null
R1784:Kif18b	UTSW	11	102915541	critical splice donor site	probably null
R2249:Kif18b	UTSW	11	102912388	missense	probably benign	0.01
R2291:Kif18b	UTSW	11	102908270	missense	probably damaging	1.00
R5496:Kif18b	UTSW	11	102913742	missense	possibly damaging	0.88
R5500:Kif18b	UTSW	11	102915700	missense	probably damaging	1.00
R5598:Kif18b	UTSW	11	102908189	missense	possibly damaging	0.89
R5820:Kif18b	UTSW	11	102913048	missense	probably benign	0.00
R5910:Kif18b	UTSW	11	102913544	missense	probably benign
R5912:Kif18b	UTSW	11	102912991	missense	probably benign
R6394:Kif18b	UTSW	11	102914410	missense	probably damaging	1.00
R6541:Kif18b	UTSW	11	102914266	missense	probably damaging	1.00
R6911:Kif18b	UTSW	11	102916380	missense	probably damaging	0.96
R7467:Kif18b	UTSW	11	102916408	missense	probably damaging	1.00
R7467:Kif18b	UTSW	11	102912348	splice site	probably null
R7526:Kif18b	UTSW	11	102914667	missense	probably damaging	1.00
R7581:Kif18b	UTSW	11	102914722	missense	probably damaging	1.00
R8314:Kif18b	UTSW	11	102913074	missense	probably benign
R8378:Kif18b	UTSW	11	102916473	missense	probably damaging	1.00
RF013:Kif18b	UTSW	11	102912366	missense	probably benign	0.00
Z1088:Kif18b	UTSW	11	102908157	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCACCACGAGTTCAAACTTG -3'
(R):5'- CCCTAAGGAGCTAGAGAGTCAG -3'

Sequencing Primer
(F):5'- ATTGGCTACTGTAGACTAGGACCC -3'
(R):5'- GCTAGAGAGTCAGCGGCG -3'

Posted On

2015-03-18