Mutagenetix > Incidental Mutation

Incidental Mutation 'R5929:Kif21b'

460064

Institutional Source

Beutler Lab

Gene Symbol

Kif21b

Ensembl Gene

ENSMUSG00000041642

Gene Name

kinesin family member 21B

Synonyms

2610511N21Rik, N-5 kinesin

MMRRC Submission

044124-MU

Accession Numbers

Essential gene?

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

Stock #

R5929 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

136059127-136105736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136078945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 431 (E431G)

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: E431G

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

SMART Domains

Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
AA Change: E431G

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 damaging
Transcript: ENSMUST00000130864
AA Change: E431G

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

SMART Domains

Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
AA Change: E431G

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

0.3306

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

99% (84/85)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	C	T	14: 52,001,708 (GRCm39)	C80Y	probably damaging	Het
Ankib1	T	C	5: 3,819,633 (GRCm39)	I95M	possibly damaging	Het
Ankrd1	T	C	19: 36,095,277 (GRCm39)	E137G	possibly damaging	Het
Car6	T	C	4: 150,280,592 (GRCm39)	H84R	probably damaging	Het
Casd1	T	A	6: 4,629,993 (GRCm39)	L463Q	probably damaging	Het
Casz1	T	A	4: 149,023,426 (GRCm39)	L491Q	probably damaging	Het
Casz1	C	T	4: 149,023,153 (GRCm39)	S400L	probably damaging	Het
Catsperd	A	T	17: 56,959,493 (GRCm39)	H311L	probably benign	Het
Ccdc83	A	G	7: 89,885,524 (GRCm39)		probably benign	Het
Cd163	G	A	6: 124,303,568 (GRCm39)		probably null	Het
Cd244a	A	T	1: 171,386,935 (GRCm39)	R15W	probably damaging	Het
Ces3b	A	G	8: 105,819,797 (GRCm39)	K490R	probably damaging	Het
Chordc1	T	C	9: 18,215,658 (GRCm39)	S137P	possibly damaging	Het
Col4a1	T	A	8: 11,266,788 (GRCm39)	T1140S	probably benign	Het
Col6a4	T	C	9: 105,940,243 (GRCm39)	E1229G	probably benign	Het
Cr2	A	G	1: 194,853,419 (GRCm39)	S20P	possibly damaging	Het
Dcaf13	T	A	15: 39,007,048 (GRCm39)	H327Q	possibly damaging	Het
Depdc5	G	T	5: 33,132,850 (GRCm39)	E646*	probably null	Het
Dnah5	G	A	15: 28,311,353 (GRCm39)	M1777I	probably benign	Het
Dnah5	G	T	15: 28,311,354 (GRCm39)	A1778S	probably damaging	Het
Dnajc5b	T	C	3: 19,601,019 (GRCm39)	Y39H	probably damaging	Het
Dsp	A	T	13: 38,379,410 (GRCm39)	I1453F	possibly damaging	Het
Fyn	T	A	10: 39,427,457 (GRCm39)	W447R	probably damaging	Het
Gabra6	T	A	11: 42,208,389 (GRCm39)	M148L	probably damaging	Het
Gcfc2	T	A	6: 81,923,580 (GRCm39)	V32D	probably damaging	Het
Ginm1	G	T	10: 7,649,814 (GRCm39)	L160I	probably benign	Het
Gm19345	A	G	7: 19,591,747 (GRCm39)	Y221H	probably damaging	Het
Gpr155	G	A	2: 73,204,011 (GRCm39)	R268*	probably null	Het
Hacl1	T	A	14: 31,338,345 (GRCm39)	M411L	probably benign	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Hmcn1	C	A	1: 150,453,047 (GRCm39)	E5423*	probably null	Het
Ipo4	T	C	14: 55,868,646 (GRCm39)	H454R	probably benign	Het
Itpr1	A	T	6: 108,400,297 (GRCm39)	I1693F	probably benign	Het
Kif12	T	C	4: 63,086,754 (GRCm39)	T361A	probably damaging	Het
Kif27	C	T	13: 58,491,784 (GRCm39)	A452T	probably benign	Het
Kifbp	A	T	10: 62,395,181 (GRCm39)	I487N	probably damaging	Het
Lhcgr	A	T	17: 89,050,436 (GRCm39)	Y363*	probably null	Het
Lrrc8d	A	T	5: 105,960,472 (GRCm39)	K294I	probably damaging	Het
Mapk3	A	C	7: 126,359,030 (GRCm39)		probably benign	Het
Mogat1	A	T	1: 78,500,370 (GRCm39)	I145F	probably benign	Het
Mtmr7	T	C	8: 41,011,399 (GRCm39)		probably null	Het
Ndufaf6	T	C	4: 11,051,150 (GRCm39)	N317D	probably benign	Het
Nfe2l1	G	T	11: 96,718,185 (GRCm39)	Q117K	probably damaging	Het
Odad3	T	C	9: 21,913,718 (GRCm39)	E18G	possibly damaging	Het
Olfm3	T	G	3: 114,895,529 (GRCm39)	I137S	probably damaging	Het
Or4f7d-ps1	T	A	2: 111,674,631 (GRCm39)		noncoding transcript	Het
Otub1	G	A	19: 7,177,350 (GRCm39)	S99F	probably damaging	Het
Padi2	T	G	4: 140,671,848 (GRCm39)		probably null	Het
Paip1	C	T	13: 119,582,326 (GRCm39)	T268I	probably damaging	Het
Pak1ip1	T	C	13: 41,158,276 (GRCm39)	S50P	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phkb	A	G	8: 86,697,543 (GRCm39)	I451V	probably benign	Het
Plcg1	T	A	2: 160,595,522 (GRCm39)		probably null	Het
Prg4	A	G	1: 150,329,880 (GRCm39)	F722S	probably benign	Het
Prss3	T	C	6: 41,353,738 (GRCm39)		probably null	Het
Psmd3	C	T	11: 98,586,422 (GRCm39)	P530L	probably damaging	Het
Rims1	A	T	1: 22,507,322 (GRCm39)	D609E	probably damaging	Het
Sema3f	T	C	9: 107,569,392 (GRCm39)	Y82C	probably damaging	Het
Shoc1	G	T	4: 59,092,497 (GRCm39)	S228*	probably null	Het
Slc35b2	G	T	17: 45,877,587 (GRCm39)	W238L	probably benign	Het
Sox12	T	C	2: 152,239,308 (GRCm39)	Y104C	probably damaging	Het
Stx5a	T	G	19: 8,719,675 (GRCm39)	D13E	probably damaging	Het
Tlr7	C	A	X: 166,089,878 (GRCm39)	G536V	probably damaging	Het
Tspan12	A	G	6: 21,772,746 (GRCm39)	S220P	possibly damaging	Het
Utp11	T	C	4: 124,576,036 (GRCm39)	T173A	probably damaging	Het
Wrnip1	G	C	13: 32,990,949 (GRCm39)	D403H	probably damaging	Het
Xpnpep1	T	C	19: 53,001,920 (GRCm39)	T109A	probably damaging	Het
Zfp354b	A	T	11: 50,813,282 (GRCm39)	F548I	probably damaging	Het
Zup1	A	T	10: 33,825,043 (GRCm39)	Y146*	probably null	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
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'- AGGAGCTACATTAGGAAACCTG -3'
(R):5'- AGCCTGCTTGATACTGAGGG -3'

Sequencing Primer
(F):5'- TGGAGATAAAGACCAGAGTCCCAC -3'
(R):5'- CTGCTTGATACTGAGGGTGGGG -3'

Posted On

2017-02-28