Mutagenetix > Incidental Mutation

Incidental Mutation 'R5337:Kif21b'

475490

Institutional Source

Beutler Lab

Gene Symbol

Kif21b

Ensembl Gene

ENSMUSG00000041642

Gene Name

kinesin family member 21B

Synonyms

2610511N21Rik, N-5 kinesin

MMRRC Submission

042917-MU

Accession Numbers

Essential gene?

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

Stock #

R5337 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136059127-136105736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136098881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1390 (S1390P)

Ref Sequence

ENSEMBL: ENSMUSP00000114297 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075164
AA Change: S1390P

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

SMART Domains

Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
AA Change: S1390P

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 damaging
Transcript: ENSMUST00000130864
AA Change: S1390P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
AA Change: S1390P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165333

Meta Mutation Damage Score

0.7133

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	T	A	11: 77,409,665 (GRCm39)		probably null	Het
Akap8l	A	G	17: 32,555,368 (GRCm39)	M237T	possibly damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Api5	G	T	2: 94,256,033 (GRCm39)	A218E	possibly damaging	Het
Bltp2	T	A	11: 78,156,034 (GRCm39)	I182N	possibly damaging	Het
Cfap68	C	A	9: 50,677,049 (GRCm39)	C14F	probably benign	Het
Cftr	A	G	6: 18,319,058 (GRCm39)	D1336G	probably damaging	Het
Chd1l	G	A	3: 97,469,932 (GRCm39)	R865W	probably damaging	Het
Cimip2b	C	T	4: 43,427,687 (GRCm39)		probably null	Het
Cmya5	T	C	13: 93,219,781 (GRCm39)	K3223E	probably benign	Het
Cspg4b	T	A	13: 113,455,299 (GRCm39)	H448Q	probably damaging	Het
Cuzd1	A	G	7: 130,917,803 (GRCm39)	Y266H	probably damaging	Het
Dnajc5b	A	T	3: 19,628,946 (GRCm39)	Y80F	probably damaging	Het
Dock6	A	G	9: 21,740,844 (GRCm39)	S915P	possibly damaging	Het
Fat4	T	A	3: 38,945,776 (GRCm39)	D1556E	probably damaging	Het
Fat4	A	G	3: 39,064,527 (GRCm39)	T4828A	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gja3	T	G	14: 57,273,289 (GRCm39)	D361A	probably benign	Het
Gpr155	T	C	2: 73,178,592 (GRCm39)	E704G	probably benign	Het
Greb1l	A	G	18: 10,509,143 (GRCm39)	E485G	probably damaging	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
H6pd	A	G	4: 150,066,241 (GRCm39)	V715A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnip1	T	G	11: 33,592,389 (GRCm39)		probably benign	Het
Lrrc61	G	A	6: 48,545,308 (GRCm39)	V44M	probably damaging	Het
Map3k4	G	T	17: 12,490,497 (GRCm39)	N311K	probably damaging	Het
Mgat5	T	C	1: 127,387,658 (GRCm39)	F538S	possibly damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ndst1	A	T	18: 60,823,079 (GRCm39)	L829Q	probably damaging	Het
Neto1	A	T	18: 86,416,434 (GRCm39)	H47L	probably benign	Het
Or10ak11	T	C	4: 118,686,863 (GRCm39)	Y258C	probably benign	Het
Or10p22	A	G	10: 128,826,548 (GRCm39)	T256A	probably benign	Het
Or51r1	T	C	7: 102,228,481 (GRCm39)	S260P	probably damaging	Het
Or5p61	A	T	7: 107,758,480 (GRCm39)	V200D	probably benign	Het
Or6c214	A	T	10: 129,590,403 (GRCm39)	C305*	probably null	Het
Pds5b	T	C	5: 150,717,062 (GRCm39)	F1120L	probably benign	Het
Phkb	A	G	8: 86,604,874 (GRCm39)	Y93C	probably damaging	Het
Pilra	C	T	5: 137,834,032 (GRCm39)		probably benign	Het
Pmvk	T	C	3: 89,375,878 (GRCm39)	V146A	probably benign	Het
Proz	T	A	8: 13,116,854 (GRCm39)	D135E	probably benign	Het
Psg23	A	T	7: 18,345,997 (GRCm39)	W233R	probably benign	Het
Rgl2	A	T	17: 34,153,958 (GRCm39)	I455F	probably damaging	Het
Rhpn1	A	G	15: 75,580,054 (GRCm39)	Q39R	probably benign	Het
Rims4	T	G	2: 163,707,763 (GRCm39)	M100L	probably benign	Het
Sacs	T	A	14: 61,430,963 (GRCm39)		probably benign	Het
Slfn4	T	C	11: 83,080,055 (GRCm39)	F189L	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Tmem127	T	C	2: 127,098,065 (GRCm39)	Y129H	probably damaging	Het
Trim50	C	T	5: 135,396,330 (GRCm39)	T426M	probably damaging	Het
Trpc3	A	T	3: 36,692,519 (GRCm39)		probably benign	Het
Tsga10ip	A	T	19: 5,444,363 (GRCm39)	S23T	probably benign	Het
Tut7	G	A	13: 59,939,666 (GRCm39)	T695I	probably damaging	Het
Uspl1	T	C	5: 149,151,556 (GRCm39)	S720P	probably damaging	Het
Zc3h18	A	G	8: 123,113,641 (GRCm39)	D211G	probably damaging	Het
Zswim4	G	A	8: 84,961,708 (GRCm39)	P55L	probably damaging	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
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
R9280:Kif21b	UTSW	1	136,099,445 (GRCm39)	critical splice donor site	probably null
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'- TCCCTGGACTCTTAACAGGC -3'
(R):5'- TTTCAGCGGCAGAGGACAAG -3'

Sequencing Primer
(F):5'- CTGGACTCTTAACAGGCTATTCAAAC -3'
(R):5'- ACAGTTGAGGTGCTGCC -3'

Posted On

2017-04-28