Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00990:Kif21b'

26783

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif21b

Ensembl Gene

ENSMUSG00000041642

Gene Name

kinesin family member 21B

Synonyms

N-5 kinesin, 2610511N21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

IGL00990

Quality Score

Status

Chromosome

Chromosomal Location

136131389-136177998 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136152342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 539 (S539P)

Ref Sequence

ENSEMBL: ENSMUSP00000074661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075164] [ENSMUST00000130864]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075164
AA Change: S539P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
AA Change: S539P

Domain	Start	End	E-Value	Type
KISc	6	379	6.39e-159	SMART
Blast:KISc	469	543	1e-14	BLAST
low complexity region	578	628	N/A	INTRINSIC
coiled coil region	632	825	N/A	INTRINSIC
low complexity region	847	866	N/A	INTRINSIC
coiled coil region	931	991	N/A	INTRINSIC
low complexity region	1109	1123	N/A	INTRINSIC
low complexity region	1239	1249	N/A	INTRINSIC
low complexity region	1266	1279	N/A	INTRINSIC
WD40	1299	1336	2.89e-5	SMART
WD40	1339	1377	5.69e-4	SMART
WD40	1404	1441	6.42e-1	SMART
WD40	1444	1486	1.5e-3	SMART
WD40	1494	1532	4.8e-2	SMART
WD40	1535	1575	1.55e-5	SMART
WD40	1578	1615	3.81e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122892

Predicted Effect

probably benign
Transcript: ENSMUST00000130864
AA Change: S539P

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
AA Change: S539P

Domain	Start	End	E-Value	Type
KISc	6	379	6.39e-159	SMART
Blast:KISc	469	543	1e-14	BLAST
low complexity region	578	628	N/A	INTRINSIC
coiled coil region	632	825	N/A	INTRINSIC
low complexity region	847	866	N/A	INTRINSIC
coiled coil region	931	991	N/A	INTRINSIC
low complexity region	1109	1123	N/A	INTRINSIC
low complexity region	1239	1249	N/A	INTRINSIC
low complexity region	1266	1279	N/A	INTRINSIC
WD40	1299	1336	2.89e-5	SMART
WD40	1339	1377	5.69e-4	SMART
WD40	1404	1441	6.42e-1	SMART
WD40	1444	1486	1.5e-3	SMART
WD40	1494	1532	4.8e-2	SMART
WD40	1535	1575	1.55e-5	SMART
WD40	1578	1615	5.1e-6	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin superfamily. Kinesins are ATP-dependent microtubule-based motor proteins that are involved in the intracellular transport of membranous organelles. Single nucleotide polymorphisms in this gene are associated with inflammatory bowel disease and multiple sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous KO reduces dendrite branching and spine density as a result of reduced microtubule growth, resulting in impaired spatial learning and cued conditioning behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 150 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	C	7: 139,978,103	V60G	probably damaging	Het
Adcy8	C	A	15: 64,822,313	V372L	probably benign	Het
Bod1l	T	C	5: 41,828,865	D458G	probably benign	Het
C87414	T	A	5: 93,636,477	Q376L	probably damaging	Het
Cacna1c	G	T	6: 118,613,295	H1416N	probably damaging	Het
Cacna2d1	T	C	5: 15,935,069	I19T	probably benign	Het
Cadps	T	A	14: 12,715,374	T153S	possibly damaging	Het
Cd200r1	A	T	16: 44,794,309	D317V	possibly damaging	Het
Dcaf5	C	T	12: 80,338,832	R840H	probably benign	Het
Dnhd1	A	C	7: 105,721,688	H4725P	possibly damaging	Het
Echdc3	C	A	2: 6,195,727	L149F	probably benign	Het
Efhb	T	G	17: 53,462,621	Q220P	possibly damaging	Het
Efr3b	A	T	12: 3,975,411	Y18*	probably null	Het
Eri1	T	C	8: 35,482,682	K41R	possibly damaging	Het
Eri1	C	A	8: 35,482,646	G53V	probably benign	Het
Gm10212	A	G	19: 11,569,560		noncoding transcript	Het
Gm11168	T	G	9: 3,005,124	F201C	probably damaging	Het
Gm14412	A	C	2: 177,315,686	S139A	probably benign	Het
Gm21411	C	T	4: 146,892,610	S69N	possibly damaging	Het
Gm21671	A	C	5: 25,954,224	W41G	probably benign	Het
Gm21738	A	G	14: 19,418,885	C16R	probably benign	Het
Gm21967	T	A	13: 119,609,535		probably benign	Het
Gm4952	A	T	19: 12,623,623	D69V	probably damaging	Het
Gm5591	T	G	7: 38,520,414	K345T	probably benign	Het
Gm7647	T	C	5: 94,962,980	S7P	probably benign	Het
Gm9733	C	T	3: 15,332,145		probably null	Het
Gm9758	G	A	5: 14,913,508		probably benign	Het
Gtse1	C	A	15: 85,868,817	Q378K	possibly damaging	Het
Haus3	T	C	5: 34,166,346	K307E	probably benign	Het
Hjurp	A	G	1: 88,270,269	L96S	probably benign	Het
Ifi205	T	A	1: 174,027,333		probably benign	Het
Ighg1	A	G	12: 113,329,184	V255A	unknown	Het
Ighv14-4	T	A	12: 114,176,632	M49L	probably benign	Het
Jak1	A	C	4: 101,171,357	L508R	probably damaging	Het
Kif18a	A	G	2: 109,334,422	Q821R	probably benign	Het
Klhdc2	T	C	12: 69,307,213	V266A	probably benign	Het
Lonp2	G	T	8: 86,641,533		probably benign	Het
Mpdz	C	T	4: 81,303,584		probably benign	Het
Mroh2a	G	A	1: 88,230,746	E172K	probably damaging	Het
Mroh2a	G	T	1: 88,244,970	M823I	probably benign	Het
Mroh2a	G	A	1: 88,234,120	G309D	possibly damaging	Het
Mtif3	C	A	5: 146,959,104	G58*	probably null	Het
Muc4	T	G	16: 32,753,863	N1246K	probably benign	Het
Muc4	G	T	16: 32,753,848	K1241N	probably benign	Het
Muc4	G	A	16: 32,753,849	G1242R	probably benign	Het
Muc4	C	T	16: 32,755,805		probably benign	Het
Muc4	C	T	16: 32,753,823	P1233L	probably benign	Het
Muc4	C	A	16: 32,753,955	T1277K	possibly damaging	Het
Muc4	A	G	16: 32,754,071	R1316G	probably benign	Het
Muc4	A	T	16: 32,753,886	E1254V	probably benign	Het
Muc4	C	T	16: 32,752,569	P816S	probably benign	Het
Muc6	C	T	7: 141,638,890	A1957T	possibly damaging	Het
Naca	T	A	10: 128,043,800		probably benign	Het
Nars2	A	T	7: 97,002,790		probably benign	Het
Odf3l1	T	C	9: 56,849,057	E225G	probably benign	Het
Olfr1445	G	T	19: 12,883,901	V7L	probably benign	Het
Olfr342	A	C	2: 36,527,993	I194L	probably benign	Het
Olfr549	G	T	7: 102,554,891	L202F	probably damaging	Het
Olfr812	T	C	10: 129,842,473	T190A	probably damaging	Het
Pcdh7	G	A	5: 57,720,464	E454K	possibly damaging	Het
Pip5kl1	C	A	2: 32,583,347	A332D	probably benign	Het
Pisd	A	T	5: 32,739,358	S280T	probably benign	Het
Pramel5	A	G	4: 144,273,979	L9P	probably damaging	Het
Prkd3	G	T	17: 78,954,523	N787K	probably benign	Het
Prkdc	A	T	16: 15,702,115	H1139L	probably benign	Het
R3hdm1	A	G	1: 128,162,196		probably benign	Het
Rbfox2	T	C	15: 77,102,936	N206D	probably damaging	Het
Rlf	T	C	4: 121,148,339	E1258G	possibly damaging	Het
Rpl8	T	C	15: 76,905,042		probably benign	Het
Senp5	A	C	16: 31,990,274	V27G	probably benign	Het
Serpina1b	T	A	12: 103,728,266	K406N	probably damaging	Het
Sfi1	G	A	11: 3,134,337	A975V	probably benign	Het
Sfi1	T	C	11: 3,143,689		probably benign	Het
Sfi1	C	T	11: 3,135,671	A853T	probably damaging	Het
Shc1	T	C	3: 89,424,229	S154P	probably damaging	Het
Skint5	A	G	4: 113,542,873		probably null	Het
Slc17a8	T	C	10: 89,576,530	D531G	probably benign	Het
Slc4a10	A	C	2: 62,286,940	T718P	probably damaging	Het
Slc7a11	C	T	3: 50,379,069	R411Q	probably damaging	Het
Slitrk3	A	G	3: 73,050,081	F453L	probably damaging	Het
Slk	A	C	19: 47,580,252	Q20P	probably damaging	Het
Smg5	T	C	3: 88,343,038		probably null	Het
Sp110	G	A	1: 85,586,281	R252C	possibly damaging	Het
Sp140	C	T	1: 85,626,165	R242C	possibly damaging	Het
Sp140	G	A	1: 85,626,133	R231K	probably benign	Het
Speer4b	G	A	5: 27,501,274	P30S	probably damaging	Het
Stim1	T	A	7: 102,426,747	H395Q	probably damaging	Het
Sult2a1	T	C	7: 13,804,036	I187M	probably benign	Het
Thap1	C	T	8: 26,160,882	P37L	possibly damaging	Het
Thap1	G	A	8: 26,162,731	D189N	probably benign	Het
Thrap3	C	T	4: 126,165,395		probably benign	Het
Tmem132d	C	T	5: 127,784,832	V742I	possibly damaging	Het
Tmprss9	A	G	10: 80,892,292	D572G	possibly damaging	Het
Tmtc1	T	G	6: 148,443,944	T86P	probably benign	Het
Trip12	A	T	1: 84,751,884	N1026K	probably damaging	Het
Ttll5	T	A	12: 85,876,589	V280E	probably damaging	Het
Ubn2	T	A	6: 38,482,605	D592E	possibly damaging	Het
Ubr1	T	G	2: 120,930,872	H608P	probably damaging	Het
Ugt1a6b	A	T	1: 88,215,178		probably null	Het
Vmn1r77	C	A	7: 12,041,768	S89Y	probably benign	Het
Vmn1r77	A	C	7: 12,041,476	I60L	probably benign	Het
Vmn2r114	A	T	17: 23,291,238	L756Q	probably damaging	Het
Vmn2r114	G	T	17: 23,290,983	S841Y	probably benign	Het
Vmn2r114	G	A	17: 23,290,965	A847V	probably benign	Het
Vmn2r115	G	A	17: 23,359,779	G742D	probably damaging	Het
Vmn2r115	C	T	17: 23,346,264	S375F	probably benign	Het
Vmn2r115	G	T	17: 23,348,034	G507*	probably null	Het
Vmn2r115	T	A	17: 23,359,824	L757Q	probably damaging	Het
Vmn2r115	A	G	17: 23,356,960	M511V	probably benign	Het
Vmn2r115	C	T	17: 23,346,371	Q411*	probably null	Het
Vmn2r115	A	G	17: 23,346,372	Q411R	probably benign	Het
Vmn2r115	C	T	17: 23,359,397	P615S	probably damaging	Het
Vmn2r115	A	G	17: 23,346,161	N341D	probably benign	Het
Vmn2r115	A	T	17: 23,346,206	M356L	possibly damaging	Het
Vmn2r115	G	T	17: 23,359,349	A599S	probably benign	Het
Vmn2r115	C	T	17: 23,346,176	P346S	probably benign	Het
Vmn2r115	G	A	17: 23,346,278	E380K	probably benign	Het
Vmn2r115	A	C	17: 23,346,339	N400T	probably damaging	Het
Vmn2r116	C	T	17: 23,397,727	P540S	probably damaging	Het
Vmn2r116	C	T	17: 23,387,236	S374F	probably benign	Het
Vmn2r117	C	T	17: 23,477,840	A198T	probably damaging	Het
Vmn2r117	A	C	17: 23,479,546	S18A	probably benign	Het
Vmn2r117	T	G	17: 23,475,429	K481N	probably damaging	Het
Vmn2r121	T	G	X: 124,127,802	K840N	probably benign	Het
Vmn2r121	T	A	X: 124,127,783	N847Y	possibly damaging	Het
Vmn2r121	C	T	X: 124,133,716	E73K	probably benign	Het
Vmn2r125	A	C	4: 156,350,900	Q191P	probably benign	Het
Vmn2r125	C	A	4: 156,350,899	Q191K	probably benign	Het
Vmn2r125	T	C	4: 156,350,966	V213A	probably benign	Het
Vmn2r125	T	C	4: 156,351,383	M352T	probably benign	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Vmn2r125	A	T	4: 156,351,037	T237S	probably benign	Het
Vmn2r125	T	A	4: 156,351,226	L300M	probably benign	Het
Vmn2r88	A	G	14: 51,413,125	I98M	probably benign	Het
Vmn2r88	T	C	14: 51,413,060	F77L	probably benign	Het
Vmn2r88	T	C	14: 51,413,256	I142T	probably benign	Het
Vmn2r88	C	T	14: 51,416,802	P539L	possibly damaging	Het
Vmn2r89	A	C	14: 51,455,971	Q259H	probably benign	Het
Vmn2r89	T	G	14: 51,457,493	L477V	probably benign	Het
Vmn2r-ps159	T	C	4: 156,334,263		noncoding transcript	Het
Vmn2r-ps159	C	A	4: 156,338,435		noncoding transcript	Het
Vmn2r-ps159	G	T	4: 156,338,460		noncoding transcript	Het
Vmn2r-ps159	T	G	4: 156,334,562		noncoding transcript	Het
Vmn2r-ps159	T	G	4: 156,338,484		noncoding transcript	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Vmn2r-ps159	A	T	4: 156,338,146		noncoding transcript	Het
Zfp180	G	A	7: 24,104,416	C85Y	possibly damaging	Het
Zfp180	C	T	7: 24,104,830	R225C	probably benign	Het
Zfp180	G	A	7: 24,104,995	V280M	possibly damaging	Het
Zfp982	G	A	4: 147,512,369	C61Y	probably benign	Het

Other mutations in Kif21b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Kif21b	APN	1	136154094	splice site	probably benign
IGL01288:Kif21b	APN	1	136172184	missense	probably benign	0.00
IGL02105:Kif21b	APN	1	136171303	missense	probably benign
IGL02264:Kif21b	APN	1	136159757	missense	probably damaging	1.00
IGL02303:Kif21b	APN	1	136159757	missense	probably damaging	1.00
IGL02308:Kif21b	APN	1	136159757	missense	probably damaging	1.00
IGL02310:Kif21b	APN	1	136159757	missense	probably damaging	1.00
IGL02419:Kif21b	APN	1	136151267	missense	probably benign	0.00
IGL02553:Kif21b	APN	1	136154121	missense	probably damaging	1.00
IGL02568:Kif21b	APN	1	136172867	missense	probably damaging	0.96
IGL02657:Kif21b	APN	1	136172230	missense	possibly damaging	0.88
IGL03068:Kif21b	APN	1	136158355	unclassified	probably benign
IGL03230:Kif21b	APN	1	136162812	missense	probably benign	0.03
R0629_Kif21b_729	UTSW	1	136172157	critical splice acceptor site	probably null
Schiessen	UTSW	1	136147869	critical splice donor site	probably null
wolfen	UTSW	1	136144758	nonsense	probably null
R0190:Kif21b	UTSW	1	136171219	missense	probably benign	0.32
R0349:Kif21b	UTSW	1	136149311	missense	probably damaging	0.97
R0501:Kif21b	UTSW	1	136163099	missense	probably benign	0.44
R0620:Kif21b	UTSW	1	136159428	missense	possibly damaging	0.88
R0629:Kif21b	UTSW	1	136172157	critical splice acceptor site	probably null
R0741:Kif21b	UTSW	1	136159744	missense	probably damaging	1.00
R1087:Kif21b	UTSW	1	136162823	missense	probably damaging	1.00
R1217:Kif21b	UTSW	1	136152376	missense	probably damaging	1.00
R1464:Kif21b	UTSW	1	136156153	missense	possibly damaging	0.50
R1464:Kif21b	UTSW	1	136156153	missense	possibly damaging	0.50
R1511:Kif21b	UTSW	1	136169324	critical splice donor site	probably null
R1512:Kif21b	UTSW	1	136152805	missense	probably benign	0.01
R1513:Kif21b	UTSW	1	136156111	missense	probably damaging	0.98
R1591:Kif21b	UTSW	1	136149317	missense	probably damaging	1.00
R1616:Kif21b	UTSW	1	136171685	missense	probably damaging	1.00
R1628:Kif21b	UTSW	1	136171220	missense	probably benign	0.01
R1658:Kif21b	UTSW	1	136171285	missense	probably damaging	1.00
R1728:Kif21b	UTSW	1	136160121	missense	possibly damaging	0.85
R1741:Kif21b	UTSW	1	136156142	missense	probably damaging	1.00
R1784:Kif21b	UTSW	1	136160121	missense	possibly damaging	0.85
R1807:Kif21b	UTSW	1	136147793	missense	possibly damaging	0.94
R1896:Kif21b	UTSW	1	136147845	missense	possibly damaging	0.90
R1970:Kif21b	UTSW	1	136171156	missense	probably damaging	1.00
R1984:Kif21b	UTSW	1	136147546	missense	probably damaging	1.00
R1985:Kif21b	UTSW	1	136147546	missense	probably damaging	1.00
R1986:Kif21b	UTSW	1	136147546	missense	probably damaging	1.00
R1988:Kif21b	UTSW	1	136152264	missense	probably damaging	0.98
R1990:Kif21b	UTSW	1	136161770	missense	probably damaging	1.00
R2014:Kif21b	UTSW	1	136148282	missense	probably damaging	1.00
R2045:Kif21b	UTSW	1	136160313	missense	probably damaging	1.00
R2141:Kif21b	UTSW	1	136152264	missense	probably damaging	0.98
R2248:Kif21b	UTSW	1	136172966	missense	probably damaging	1.00
R2886:Kif21b	UTSW	1	136147874	splice site	probably benign
R2896:Kif21b	UTSW	1	136154217	missense	possibly damaging	0.82
R3706:Kif21b	UTSW	1	136159410	missense	probably benign	0.06
R3780:Kif21b	UTSW	1	136156226	missense	probably damaging	0.99
R3827:Kif21b	UTSW	1	136162994	critical splice donor site	probably null
R4227:Kif21b	UTSW	1	136154093	splice site	probably null
R4600:Kif21b	UTSW	1	136147864	missense	probably benign	0.39
R4608:Kif21b	UTSW	1	136148186	intron	probably benign
R4749:Kif21b	UTSW	1	136144749	nonsense	probably null
R4841:Kif21b	UTSW	1	136145220	missense	probably damaging	1.00
R4842:Kif21b	UTSW	1	136145220	missense	probably damaging	1.00
R4933:Kif21b	UTSW	1	136151325	splice site	probably null
R4959:Kif21b	UTSW	1	136148370	missense	possibly damaging	0.90
R5018:Kif21b	UTSW	1	136172234	missense	probably benign	0.30
R5116:Kif21b	UTSW	1	136152783	missense	probably damaging	0.99
R5119:Kif21b	UTSW	1	136163100	missense	probably benign
R5197:Kif21b	UTSW	1	136144625	missense	probably damaging	1.00
R5230:Kif21b	UTSW	1	136171673	missense	probably damaging	1.00
R5249:Kif21b	UTSW	1	136169228	missense	probably damaging	1.00
R5337:Kif21b	UTSW	1	136171143	missense	probably damaging	1.00
R5358:Kif21b	UTSW	1	136172292	missense	possibly damaging	0.85
R5466:Kif21b	UTSW	1	136147525	missense	probably damaging	1.00
R5557:Kif21b	UTSW	1	136170059	missense	probably damaging	1.00
R5727:Kif21b	UTSW	1	136170009	missense	probably damaging	1.00
R5865:Kif21b	UTSW	1	136151137	nonsense	probably null
R5929:Kif21b	UTSW	1	136151207	missense	probably damaging	1.00
R6274:Kif21b	UTSW	1	136149418	missense	possibly damaging	0.57
R6349:Kif21b	UTSW	1	136158326	missense	probably damaging	1.00
R6648:Kif21b	UTSW	1	136152397	missense	probably benign	0.00
R6831:Kif21b	UTSW	1	136144758	nonsense	probably null
R7156:Kif21b	UTSW	1	136147824	missense	probably damaging	1.00
R7165:Kif21b	UTSW	1	136149448	missense	probably damaging	0.98
R7327:Kif21b	UTSW	1	136159649	missense	possibly damaging	0.60
R7680:Kif21b	UTSW	1	136147869	critical splice donor site	probably null
R7975:Kif21b	UTSW	1	136171173	missense	probably damaging	1.00
R8356:Kif21b	UTSW	1	136172945	missense	probably damaging	1.00
R8467:Kif21b	UTSW	1	136172283	missense	probably damaging	0.98
R9031:Kif21b	UTSW	1	136145304	missense	probably damaging	0.99
R9101:Kif21b	UTSW	1	136151155	missense	probably damaging	0.96
R9191:Kif21b	UTSW	1	136172821	nonsense	probably null
R9261:Kif21b	UTSW	1	136149424	missense	probably damaging	1.00
R9280:Kif21b	UTSW	1	136171707	critical splice donor site	probably null
R9307:Kif21b	UTSW	1	136174062	missense	probably benign
R9562:Kif21b	UTSW	1	136149352	missense	probably damaging	0.99
R9563:Kif21b	UTSW	1	136149428	missense	probably damaging	1.00
R9565:Kif21b	UTSW	1	136149352	missense	probably damaging	0.99
R9758:Kif21b	UTSW	1	136153223	missense	probably damaging	1.00
R9760:Kif21b	UTSW	1	136148683	missense	probably damaging	1.00
RF024:Kif21b	UTSW	1	136158341	missense	probably damaging	1.00
X0053:Kif21b	UTSW	1	136149316	missense	probably damaging	1.00
X0066:Kif21b	UTSW	1	136172945	missense	probably damaging	1.00
Z1176:Kif21b	UTSW	1	136154137	missense	probably benign	0.00
Z1177:Kif21b	UTSW	1	136148312	missense	probably damaging	1.00

Posted On

2013-04-17