Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Kif21b'

435426

Institutional Source

Beutler Lab

Gene Symbol

Kif21b

Ensembl Gene

ENSMUSG00000041642

Gene Name

kinesin family member 21B

Synonyms

2610511N21Rik, N-5 kinesin

MMRRC Submission

043114-MU

Accession Numbers

Essential gene?

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

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136059127-136105736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 136097797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1352 (N1352K)

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: N1352K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
AA Change: N1352K

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: N1352K

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

SMART Domains

Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
AA Change: N1352K

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

0.3889

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,767,501 (GRCm39)	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,764,949 (GRCm39)	N646K	probably benign	Het
Abi2	C	A	1: 60,478,071 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,863,651 (GRCm39)	S35P	probably benign	Het
B4galt3	A	G	1: 171,100,089 (GRCm39)		probably null	Het
Bag5	T	C	12: 111,676,524 (GRCm39)	N433S	probably benign	Het
Birc7	T	A	2: 180,574,772 (GRCm39)	V218D	probably benign	Het
Catsperg1	T	G	7: 28,895,296 (GRCm39)	N332T	possibly damaging	Het
Ccdc191	A	C	16: 43,728,976 (GRCm39)	T179P	probably damaging	Het
Col4a3	C	T	1: 82,692,968 (GRCm39)		probably benign	Het
Crlf1	A	G	8: 70,951,317 (GRCm39)	I65M	probably benign	Het
Dennd4a	T	G	9: 64,811,509 (GRCm39)	D1376E	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dlg4	C	T	11: 69,933,106 (GRCm39)	P504L	probably damaging	Het
Dop1b	A	G	16: 93,560,819 (GRCm39)	T886A	probably damaging	Het
Dst	T	A	1: 34,321,667 (GRCm39)	V4394E	probably damaging	Het
Endov	T	C	11: 119,393,186 (GRCm39)	M112T	possibly damaging	Het
Eps8	T	C	6: 137,456,094 (GRCm39)	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,771,791 (GRCm39)	Y7*	probably null	Het
Farsb	C	T	1: 78,445,888 (GRCm39)		probably null	Het
Fasn	A	G	11: 120,703,252 (GRCm39)	M1591T	probably benign	Het
Fbn2	C	T	18: 58,248,731 (GRCm39)	A384T	probably benign	Het
Fnta	T	C	8: 26,489,564 (GRCm39)	D349G	probably damaging	Het
Glis3	G	T	19: 28,241,409 (GRCm39)	H842N	probably benign	Het
Gm17067	G	A	7: 42,357,945 (GRCm39)	P186S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hk3	A	T	13: 55,159,888 (GRCm39)	L362*	probably null	Het
Ing3	A	G	6: 21,968,908 (GRCm39)	H130R	possibly damaging	Het
Inpp4b	A	T	8: 82,678,888 (GRCm39)	Q306L	probably damaging	Het
Kcnq2	T	C	2: 180,776,690 (GRCm39)	K66E	probably benign	Het
Lrig3	A	T	10: 125,808,003 (GRCm39)	N84Y	probably damaging	Het
Mill2	T	A	7: 18,589,884 (GRCm39)	Y55*	probably null	Het
Mmachc	T	C	4: 116,563,097 (GRCm39)	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259 (GRCm39)	V524A	probably benign	Het
Or10ag54	A	T	2: 87,099,736 (GRCm39)	T204S	possibly damaging	Het
Or1q1	T	A	2: 36,887,358 (GRCm39)	C179S	probably damaging	Het
Or4c102	G	A	2: 88,422,897 (GRCm39)	V250M	probably damaging	Het
Or5af1	G	A	11: 58,722,813 (GRCm39)	V278I	probably benign	Het
Or5b101	C	A	19: 13,005,004 (GRCm39)	A230S	probably benign	Het
Or7g19	T	C	9: 18,856,466 (GRCm39)	I174T	possibly damaging	Het
Pigu	G	T	2: 155,120,549 (GRCm39)	Y404*	probably null	Het
Plaa	A	T	4: 94,472,244 (GRCm39)		probably null	Het
Plcg2	A	T	8: 118,313,296 (GRCm39)	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,867,580 (GRCm39)	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,000 (GRCm39)	V1030D	probably benign	Het
Raver2	C	A	4: 100,993,336 (GRCm39)	S505R	probably benign	Het
Samd7	A	T	3: 30,810,769 (GRCm39)	Q262L	probably benign	Het
Scn9a	T	A	2: 66,377,447 (GRCm39)	N412Y	probably damaging	Het
Sytl1	C	A	4: 132,986,667 (GRCm39)	R91M	probably damaging	Het
Tead3	A	T	17: 28,555,244 (GRCm39)		probably benign	Het
Tgm1	A	G	14: 55,943,100 (GRCm39)	M580T	probably benign	Het
Themis	A	T	10: 28,657,882 (GRCm39)	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,086,466 (GRCm39)	S41P	possibly damaging	Het
Tnks1bp1	T	C	2: 84,894,144 (GRCm39)	V695A	probably damaging	Het
Trim23	A	T	13: 104,324,017 (GRCm39)	T159S	probably damaging	Het
Trim66	T	C	7: 109,082,944 (GRCm39)	Y166C	probably benign	Het
Troap	A	T	15: 98,973,675 (GRCm39)	T111S	possibly damaging	Het
Ttn	T	C	2: 76,720,734 (GRCm39)		probably null	Het
Tub	T	G	7: 108,624,925 (GRCm39)	S180A	probably damaging	Het
Vcan	A	G	13: 89,851,231 (GRCm39)	V1243A	possibly damaging	Het
Zfp608	T	C	18: 55,120,942 (GRCm39)	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,944,345 (GRCm39)	V1021E	probably damaging	Het
Zim1	T	A	7: 6,680,710 (GRCm39)	I318F	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
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
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'- TATGTCAGTCCAGGACACCTC -3'
(R):5'- TTCGTGCTCACCCAATCAGG -3'

Sequencing Primer
(F):5'- CTCATGGTTATTTAAAGCTCTCAGC -3'
(R):5'- TGCTCACCCAATCAGGCTGTG -3'

Posted On

2016-10-24