Mutagenetix > Incidental Mutation

Incidental Mutation 'R9280:Kif21b'

703532

Institutional Source

Beutler Lab

Gene Symbol

Kif21b

Ensembl Gene

ENSMUSG00000041642

Gene Name

kinesin family member 21B

Synonyms

2610511N21Rik, N-5 kinesin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R9280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136059127-136105736 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 136099445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074661 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000075164

SMART Domains

Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642

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

probably benign
Transcript: ENSMUST00000130864

SMART Domains

Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642

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

Meta Mutation Damage Score

0.9592

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	G	T	6: 125,039,938 (GRCm39)	V514L	probably damaging	Het
Actl11	A	G	9: 107,808,573 (GRCm39)	I965M	probably damaging	Het
Ank3	A	T	10: 69,818,021 (GRCm39)	S1468C	possibly damaging	Het
Aoc1l1	A	G	6: 48,955,116 (GRCm39)	D652G	possibly damaging	Het
Apobec3	A	C	15: 79,791,082 (GRCm39)	N392T		Het
Ccdc33	A	T	9: 57,965,549 (GRCm39)	M591K	probably benign	Het
Ccdc39	T	C	3: 33,870,153 (GRCm39)	E689G	probably damaging	Het
Cnot1	A	T	8: 96,497,227 (GRCm39)	M250K	probably benign	Het
Crppa	T	A	12: 36,571,975 (GRCm39)	S344R	probably benign	Het
Ctbs	A	T	3: 146,160,142 (GRCm39)	Y57F	probably damaging	Het
Dchs2	A	G	3: 83,189,255 (GRCm39)	I1540V	possibly damaging	Het
Dnah8	A	T	17: 31,004,071 (GRCm39)	Q3651H	possibly damaging	Het
Eif2a	A	G	3: 58,447,009 (GRCm39)		probably benign	Het
Entpd2	A	G	2: 25,289,511 (GRCm39)	N331S	possibly damaging	Het
F830045P16Rik	G	A	2: 129,314,774 (GRCm39)	P168S	probably damaging	Het
Fam76b	A	T	9: 13,751,012 (GRCm39)	H302L	possibly damaging	Het
Fancm	A	G	12: 65,153,612 (GRCm39)	E1356G	probably benign	Het
Fat2	G	A	11: 55,201,523 (GRCm39)	T517I	probably benign	Het
Glul	T	C	1: 153,783,611 (GRCm39)	C269R	probably benign	Het
Gm3404	C	T	5: 146,462,756 (GRCm39)	H40Y	possibly damaging	Het
Grb7	T	C	11: 98,345,248 (GRCm39)	F435S	probably damaging	Het
Ide	A	T	19: 37,295,490 (GRCm39)	Y191N		Het
Ide	T	C	19: 37,307,801 (GRCm39)		probably benign	Het
Ighv6-3	T	A	12: 114,355,420 (GRCm39)	T90S	probably damaging	Het
Il23r	A	G	6: 67,429,410 (GRCm39)	C311R	probably damaging	Het
Ilf2	A	G	3: 90,394,922 (GRCm39)	E390G	unknown	Het
Ints1	C	T	5: 139,750,469 (GRCm39)	C896Y	probably damaging	Het
Ipcef1	T	C	10: 6,850,736 (GRCm39)	E289G	probably benign	Het
Kbtbd2	G	A	6: 56,755,997 (GRCm39)	R580W	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mmp27	A	T	9: 7,579,812 (GRCm39)	I429L	probably benign	Het
Mmp8	A	G	9: 7,567,292 (GRCm39)	D431G	possibly damaging	Het
Mpeg1	A	G	19: 12,439,828 (GRCm39)	T429A	probably benign	Het
Mterf1a	A	T	5: 3,941,539 (GRCm39)	Y110N	probably damaging	Het
Myh4	G	A	11: 67,146,135 (GRCm39)	A1398T	probably damaging	Het
Nr3c2	T	A	8: 77,635,973 (GRCm39)	M358K	probably benign	Het
Nup50l	A	C	6: 96,141,982 (GRCm39)	L354R	probably damaging	Het
Or5d14	A	T	2: 87,880,458 (GRCm39)	F170Y	probably damaging	Het
Or5g25	G	A	2: 85,478,504 (GRCm39)	R54*	probably null	Het
Or7e173	A	C	9: 19,938,639 (GRCm39)	S198R	probably benign	Het
Otof	A	G	5: 30,528,894 (GRCm39)	F1838S	probably damaging	Het
Pappa2	G	A	1: 158,675,533 (GRCm39)	T1071I	possibly damaging	Het
Pcdhb15	A	G	18: 37,607,794 (GRCm39)	D342G	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,585 (GRCm39)	L585P	probably damaging	Het
Pde1c	A	T	6: 56,114,505 (GRCm39)	S469R	probably benign	Het
Pla2g6	A	G	15: 79,197,314 (GRCm39)	F87L	probably benign	Het
Rag2	A	T	2: 101,460,145 (GRCm39)	M152L	probably benign	Het
Rasa1	C	T	13: 85,436,732 (GRCm39)	A99T	unknown	Het
Rasgrp1	T	C	2: 117,113,132 (GRCm39)	N760S	probably benign	Het
Rgsl1	A	T	1: 153,669,898 (GRCm39)	M232K	probably benign	Het
Ryr1	G	A	7: 28,802,389 (GRCm39)	H744Y	probably damaging	Het
Slc1a4	A	G	11: 20,282,325 (GRCm39)	S50P	probably damaging	Het
Slc25a36	A	C	9: 96,982,233 (GRCm39)	L34R	probably damaging	Het
Slc39a12	A	T	2: 14,401,003 (GRCm39)	I127F	probably benign	Het
Slco1a8	A	G	6: 141,939,978 (GRCm39)	L175P	possibly damaging	Het
Sntb1	T	C	15: 55,769,771 (GRCm39)	T73A	probably benign	Het
Tbc1d14	T	C	5: 36,680,268 (GRCm39)		probably benign	Het
Tll2	T	A	19: 41,077,309 (GRCm39)	E819V	possibly damaging	Het
Trappc13	C	T	13: 104,290,809 (GRCm39)	A181T	probably benign	Het
Trbj1-1	A	G	6: 41,510,830 (GRCm39)	R11G		Het
Ubash3b	A	C	9: 41,072,877 (GRCm39)	I12S	unknown	Het
Usp37	T	C	1: 74,489,699 (GRCm39)	K828E	probably damaging	Het
Usp8	G	C	2: 126,561,944 (GRCm39)	S46T	unknown	Het
Zfp418	A	G	7: 7,184,408 (GRCm39)	T124A	possibly damaging	Het
Zfp87	T	C	13: 74,520,803 (GRCm39)	T92A	probably benign	Het

Other mutations in Kif21b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Kif21b	APN	1	136,080,080 (GRCm39)	missense	possibly damaging	0.68
IGL01020:Kif21b	APN	1	136,081,832 (GRCm39)	splice site	probably benign
IGL01288:Kif21b	APN	1	136,099,922 (GRCm39)	missense	probably benign	0.00
IGL02105:Kif21b	APN	1	136,099,041 (GRCm39)	missense	probably benign
IGL02264:Kif21b	APN	1	136,087,495 (GRCm39)	missense	probably damaging	1.00
IGL02303:Kif21b	APN	1	136,087,495 (GRCm39)	missense	probably damaging	1.00
IGL02308:Kif21b	APN	1	136,087,495 (GRCm39)	missense	probably damaging	1.00
IGL02310:Kif21b	APN	1	136,087,495 (GRCm39)	missense	probably damaging	1.00
IGL02419:Kif21b	APN	1	136,079,005 (GRCm39)	missense	probably benign	0.00
IGL02553:Kif21b	APN	1	136,081,859 (GRCm39)	missense	probably damaging	1.00
IGL02568:Kif21b	APN	1	136,100,605 (GRCm39)	missense	probably damaging	0.96
IGL02657:Kif21b	APN	1	136,099,968 (GRCm39)	missense	possibly damaging	0.88
IGL03068:Kif21b	APN	1	136,086,093 (GRCm39)	unclassified	probably benign
IGL03230:Kif21b	APN	1	136,090,550 (GRCm39)	missense	probably benign	0.03
R0629_Kif21b_729	UTSW	1	136,099,895 (GRCm39)	critical splice acceptor site	probably null
Schiessen	UTSW	1	136,075,607 (GRCm39)	critical splice donor site	probably null
wolfen	UTSW	1	136,072,496 (GRCm39)	nonsense	probably null
R0190:Kif21b	UTSW	1	136,098,957 (GRCm39)	missense	probably benign	0.32
R0349:Kif21b	UTSW	1	136,077,049 (GRCm39)	missense	probably damaging	0.97
R0501:Kif21b	UTSW	1	136,090,837 (GRCm39)	missense	probably benign	0.44
R0620:Kif21b	UTSW	1	136,087,166 (GRCm39)	missense	possibly damaging	0.88
R0629:Kif21b	UTSW	1	136,099,895 (GRCm39)	critical splice acceptor site	probably null
R0741:Kif21b	UTSW	1	136,087,482 (GRCm39)	missense	probably damaging	1.00
R1087:Kif21b	UTSW	1	136,090,561 (GRCm39)	missense	probably damaging	1.00
R1217:Kif21b	UTSW	1	136,080,114 (GRCm39)	missense	probably damaging	1.00
R1464:Kif21b	UTSW	1	136,083,891 (GRCm39)	missense	possibly damaging	0.50
R1464:Kif21b	UTSW	1	136,083,891 (GRCm39)	missense	possibly damaging	0.50
R1511:Kif21b	UTSW	1	136,097,062 (GRCm39)	critical splice donor site	probably null
R1512:Kif21b	UTSW	1	136,080,543 (GRCm39)	missense	probably benign	0.01
R1513:Kif21b	UTSW	1	136,083,849 (GRCm39)	missense	probably damaging	0.98
R1591:Kif21b	UTSW	1	136,077,055 (GRCm39)	missense	probably damaging	1.00
R1616:Kif21b	UTSW	1	136,099,423 (GRCm39)	missense	probably damaging	1.00
R1628:Kif21b	UTSW	1	136,098,958 (GRCm39)	missense	probably benign	0.01
R1658:Kif21b	UTSW	1	136,099,023 (GRCm39)	missense	probably damaging	1.00
R1728:Kif21b	UTSW	1	136,087,859 (GRCm39)	missense	possibly damaging	0.85
R1741:Kif21b	UTSW	1	136,083,880 (GRCm39)	missense	probably damaging	1.00
R1784:Kif21b	UTSW	1	136,087,859 (GRCm39)	missense	possibly damaging	0.85
R1807:Kif21b	UTSW	1	136,075,531 (GRCm39)	missense	possibly damaging	0.94
R1896:Kif21b	UTSW	1	136,075,583 (GRCm39)	missense	possibly damaging	0.90
R1970:Kif21b	UTSW	1	136,098,894 (GRCm39)	missense	probably damaging	1.00
R1984:Kif21b	UTSW	1	136,075,284 (GRCm39)	missense	probably damaging	1.00
R1985:Kif21b	UTSW	1	136,075,284 (GRCm39)	missense	probably damaging	1.00
R1986:Kif21b	UTSW	1	136,075,284 (GRCm39)	missense	probably damaging	1.00
R1988:Kif21b	UTSW	1	136,080,002 (GRCm39)	missense	probably damaging	0.98
R1990:Kif21b	UTSW	1	136,089,508 (GRCm39)	missense	probably damaging	1.00
R2014:Kif21b	UTSW	1	136,076,020 (GRCm39)	missense	probably damaging	1.00
R2045:Kif21b	UTSW	1	136,088,051 (GRCm39)	missense	probably damaging	1.00
R2141:Kif21b	UTSW	1	136,080,002 (GRCm39)	missense	probably damaging	0.98
R2248:Kif21b	UTSW	1	136,100,704 (GRCm39)	missense	probably damaging	1.00
R2886:Kif21b	UTSW	1	136,075,612 (GRCm39)	splice site	probably benign
R2896:Kif21b	UTSW	1	136,081,955 (GRCm39)	missense	possibly damaging	0.82
R3706:Kif21b	UTSW	1	136,087,148 (GRCm39)	missense	probably benign	0.06
R3780:Kif21b	UTSW	1	136,083,964 (GRCm39)	missense	probably damaging	0.99
R3827:Kif21b	UTSW	1	136,090,732 (GRCm39)	critical splice donor site	probably null
R4227:Kif21b	UTSW	1	136,081,831 (GRCm39)	splice site	probably null
R4600:Kif21b	UTSW	1	136,075,602 (GRCm39)	missense	probably benign	0.39
R4608:Kif21b	UTSW	1	136,075,924 (GRCm39)	intron	probably benign
R4749:Kif21b	UTSW	1	136,072,487 (GRCm39)	nonsense	probably null
R4841:Kif21b	UTSW	1	136,072,958 (GRCm39)	missense	probably damaging	1.00
R4842:Kif21b	UTSW	1	136,072,958 (GRCm39)	missense	probably damaging	1.00
R4933:Kif21b	UTSW	1	136,079,063 (GRCm39)	splice site	probably null
R4959:Kif21b	UTSW	1	136,076,108 (GRCm39)	missense	possibly damaging	0.90
R5018:Kif21b	UTSW	1	136,099,972 (GRCm39)	missense	probably benign	0.30
R5116:Kif21b	UTSW	1	136,080,521 (GRCm39)	missense	probably damaging	0.99
R5119:Kif21b	UTSW	1	136,090,838 (GRCm39)	missense	probably benign
R5197:Kif21b	UTSW	1	136,072,363 (GRCm39)	missense	probably damaging	1.00
R5230:Kif21b	UTSW	1	136,099,411 (GRCm39)	missense	probably damaging	1.00
R5249:Kif21b	UTSW	1	136,096,966 (GRCm39)	missense	probably damaging	1.00
R5337:Kif21b	UTSW	1	136,098,881 (GRCm39)	missense	probably damaging	1.00
R5358:Kif21b	UTSW	1	136,100,030 (GRCm39)	missense	possibly damaging	0.85
R5466:Kif21b	UTSW	1	136,075,263 (GRCm39)	missense	probably damaging	1.00
R5557:Kif21b	UTSW	1	136,097,797 (GRCm39)	missense	probably damaging	1.00
R5727:Kif21b	UTSW	1	136,097,747 (GRCm39)	missense	probably damaging	1.00
R5865:Kif21b	UTSW	1	136,078,875 (GRCm39)	nonsense	probably null
R5929:Kif21b	UTSW	1	136,078,945 (GRCm39)	missense	probably damaging	1.00
R6274:Kif21b	UTSW	1	136,077,156 (GRCm39)	missense	possibly damaging	0.57
R6349:Kif21b	UTSW	1	136,086,064 (GRCm39)	missense	probably damaging	1.00
R6648:Kif21b	UTSW	1	136,080,135 (GRCm39)	missense	probably benign	0.00
R6831:Kif21b	UTSW	1	136,072,496 (GRCm39)	nonsense	probably null
R7156:Kif21b	UTSW	1	136,075,562 (GRCm39)	missense	probably damaging	1.00
R7165:Kif21b	UTSW	1	136,077,186 (GRCm39)	missense	probably damaging	0.98
R7327:Kif21b	UTSW	1	136,087,387 (GRCm39)	missense	possibly damaging	0.60
R7680:Kif21b	UTSW	1	136,075,607 (GRCm39)	critical splice donor site	probably null
R7975:Kif21b	UTSW	1	136,098,911 (GRCm39)	missense	probably damaging	1.00
R8356:Kif21b	UTSW	1	136,100,683 (GRCm39)	missense	probably damaging	1.00
R8467:Kif21b	UTSW	1	136,100,021 (GRCm39)	missense	probably damaging	0.98
R9031:Kif21b	UTSW	1	136,073,042 (GRCm39)	missense	probably damaging	0.99
R9101:Kif21b	UTSW	1	136,078,893 (GRCm39)	missense	probably damaging	0.96
R9191:Kif21b	UTSW	1	136,100,559 (GRCm39)	nonsense	probably null
R9261:Kif21b	UTSW	1	136,077,162 (GRCm39)	missense	probably damaging	1.00
R9307:Kif21b	UTSW	1	136,101,800 (GRCm39)	missense	probably benign
R9562:Kif21b	UTSW	1	136,077,090 (GRCm39)	missense	probably damaging	0.99
R9563:Kif21b	UTSW	1	136,077,166 (GRCm39)	missense	probably damaging	1.00
R9565:Kif21b	UTSW	1	136,077,090 (GRCm39)	missense	probably damaging	0.99
R9758:Kif21b	UTSW	1	136,080,961 (GRCm39)	missense	probably damaging	1.00
R9760:Kif21b	UTSW	1	136,076,421 (GRCm39)	missense	probably damaging	1.00
RF024:Kif21b	UTSW	1	136,086,079 (GRCm39)	missense	probably damaging	1.00
X0053:Kif21b	UTSW	1	136,077,054 (GRCm39)	missense	probably damaging	1.00
X0066:Kif21b	UTSW	1	136,100,683 (GRCm39)	missense	probably damaging	1.00
Z1176:Kif21b	UTSW	1	136,081,875 (GRCm39)	missense	probably benign	0.00
Z1177:Kif21b	UTSW	1	136,076,050 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAAGTGCCCTCTGACCATAC -3'
(R):5'- TGCATCATCTCCCATTCAGAGG -3'

Sequencing Primer
(F):5'- GTAAGTGCCCTCTGACCATACTATCC -3'
(R):5'- TCACACACTGAGGTCGTTAC -3'

Posted On

2022-03-25