Mutagenetix > Incidental Mutation

Incidental Mutation 'R5496:Kif18b'

432362

Institutional Source

Beutler Lab

Gene Symbol

Kif18b

Ensembl Gene

ENSMUSG00000051378

Gene Name

kinesin family member 18B

Synonyms

3000004C01Rik, N-8 kinesin

MMRRC Submission

043057-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102905529-102925124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102913742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 362 (I362N)

Ref Sequence

ENSEMBL: ENSMUSP00000021311 (fasta)

Gene Model

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

AlphaFold

Q6PFD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021311
AA Change: I362N

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021311
Gene: ENSMUSG00000051378
AA Change: I362N

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

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,674,818	V84I	probably benign	Het
Adam10	T	G	9: 70,722,739	F151C	probably damaging	Het
Akap6	A	G	12: 53,140,653	S1617G	possibly damaging	Het
Ano6	T	A	15: 95,967,614		probably null	Het
Atmin	A	G	8: 116,957,172	T524A	probably benign	Het
Bicra	C	T	7: 15,987,841	V584I	probably benign	Het
Carmil1	G	A	13: 24,155,450	R54C	probably damaging	Het
Cbln1	A	G	8: 87,471,696	I127T	possibly damaging	Het
Ccl26	A	G	5: 135,563,363	V40A	probably benign	Het
Cdh7	T	A	1: 110,048,917	I104N	probably damaging	Het
Cdt1	C	T	8: 122,570,500	R311W	probably damaging	Het
Col12a1	A	G	9: 79,602,185		probably benign	Het
Csf2rb	A	G	15: 78,340,561	E173G	probably damaging	Het
Cyb561	A	G	11: 105,937,719	Y94H	probably damaging	Het
Cyp3a16	T	A	5: 145,467,531	K34M	probably damaging	Het
Diras2	C	T	13: 52,507,750	V174M	probably benign	Het
Dnah7a	T	G	1: 53,457,768	M3110L	probably benign	Het
Dyrk2	T	C	10: 118,860,051	E434G	probably damaging	Het
Ebag9	T	G	15: 44,640,420	*214E	probably null	Het
Egln3	A	T	12: 54,203,324	W80R	probably damaging	Het
Eps15l1	A	G	8: 72,382,775	Y336H	probably benign	Het
Gak	A	G	5: 108,576,617	S1076P	probably benign	Het
Glra1	T	C	11: 55,527,415	Y168C	probably damaging	Het
Glrx2	T	A	1: 143,745,207	M108K	probably damaging	Het
Gm3604	A	T	13: 62,371,579	S59T	possibly damaging	Het
Gm8212	A	T	14: 44,201,157		probably benign	Het
Gmcl1	G	T	6: 86,697,525	A457D	probably damaging	Het
H2-M11	T	C	17: 36,547,979	F137S	possibly damaging	Het
Ighv1-55	C	G	12: 115,208,520	W3S	probably damaging	Het
Il22	T	G	10: 118,205,097	V36G	possibly damaging	Het
Ints1	G	A	5: 139,755,198	A1904V	probably benign	Het
Iqgap2	A	G	13: 95,630,053	Y1481H	probably damaging	Het
Kcnn3	C	T	3: 89,609,490	A402V	possibly damaging	Het
Kif5c	C	G	2: 49,730,190	A223G	possibly damaging	Het
Kntc1	A	G	5: 123,784,182	D948G	probably benign	Het
Krba1	A	G	6: 48,406,356	T229A	possibly damaging	Het
Leprot	T	A	4: 101,657,896	I113N	probably damaging	Het
Lrp1b	T	C	2: 40,927,973	D2415G	probably benign	Het
Maats1	A	G	16: 38,321,493	I359T	probably damaging	Het
Mnd1	T	A	3: 84,088,174	D171V	probably damaging	Het
Mthfsd	A	T	8: 121,098,814	Y339*	probably null	Het
Nfatc2	G	A	2: 168,536,278	T268M	probably damaging	Het
Olfr1097	G	T	2: 86,890,314	P287Q	probably damaging	Het
Olfr1097	G	C	2: 86,890,315	P287A	probably damaging	Het
Olfr116	T	C	17: 37,624,578	D19G	probably benign	Het
Olfr653	G	C	7: 104,580,494	A283P	probably damaging	Het
Pan3	G	A	5: 147,527,128		probably null	Het
Pde6a	A	T	18: 61,253,665		probably null	Het
Prss39	T	C	1: 34,500,261	I194T	possibly damaging	Het
Rfx8	T	C	1: 39,670,347	S507G	probably benign	Het
Rif1	T	C	2: 52,098,916	S774P	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Smurf1	C	A	5: 144,882,593	E601*	probably null	Het
Stau2	T	C	1: 16,390,021	S231G	probably damaging	Het
Timp2	T	G	11: 118,303,881	M161L	probably benign	Het
Tlr5	T	C	1: 182,973,632	L167P	probably damaging	Het
Trhr	G	A	15: 44,197,536	A151T	probably benign	Het
Unc13d	A	G	11: 116,066,708	V807A	probably damaging	Het
Usp2	T	C	9: 44,085,208	V7A	possibly damaging	Het
Uspl1	A	G	5: 149,209,779	T447A	probably damaging	Het
Zan	A	G	5: 137,436,345	I2232T	unknown	Het
Zfp12	C	A	5: 143,244,795	C292*	probably null	Het
Zfp850	A	C	7: 28,007,346	M43R	probably damaging	Het
Zic5	G	A	14: 122,459,343	T620M	unknown	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
R3723:Kif18b	UTSW	11	102916276	missense	probably damaging	1.00
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'- AGCCTCATACATCTGGAGTTTC -3'
(R):5'- GCCTGTCTAGAGTGTTCCAG -3'

Sequencing Primer
(F):5'- ACAGTAGCTAGCTCAGTCTGCAG -3'
(R):5'- CTAGAGTGTTCCAGTCAGAGGC -3'

Posted On

2016-10-05