Mutagenetix > Incidental Mutations

Incidental Mutation 'R5558:Kif20b'

436439

Institutional Source

Beutler Lab

Gene Symbol

Kif20b

Ensembl Gene

ENSMUSG00000024795

Gene Name

kinesin family member 20B

Synonyms

Kif20b, Mphosph1, N-6 kinesin

MMRRC Submission

043115-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R5558 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34922361-34975745 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34951549 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1192 (Q1192K)

Ref Sequence

ENSEMBL: ENSMUSP00000153034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223907] [ENSMUST00000223937]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087341
AA Change: Q1232K

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

SMART Domains

Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: Q1232K

Domain	Start	End	E-Value	Type
Blast:KISc	2	46	5e-15	BLAST
KISc	56	483	1.19e-103	SMART
low complexity region	521	551	N/A	INTRINSIC
coiled coil region	565	602	N/A	INTRINSIC
coiled coil region	705	746	N/A	INTRINSIC
coiled coil region	823	947	N/A	INTRINSIC
coiled coil region	1020	1325	N/A	INTRINSIC
coiled coil region	1348	1510	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000223907
AA Change: Q1192K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223937

Predicted Effect

probably benign
Transcript: ENSMUST00000224728

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	C	3: 88,693,096	H164P	probably damaging	Het
Abcg4	T	C	9: 44,281,408	K177E	probably damaging	Het
Acvr1	T	C	2: 58,459,017	T378A	probably damaging	Het
Agtpbp1	A	G	13: 59,482,580	V779A	probably benign	Het
Alms1	C	T	6: 85,641,329	Q2786*	probably null	Het
Arhgef28	A	C	13: 97,961,460	L882R	probably damaging	Het
Cbx2	A	G	11: 119,028,949	T447A	probably benign	Het
Ch25h	A	G	19: 34,474,463	W222R	probably damaging	Het
Chsy3	T	G	18: 59,176,397	S241A	probably damaging	Het
Cyfip1	T	C	7: 55,892,001	S345P	possibly damaging	Het
Cyp4a30b	C	A	4: 115,458,866	D291E	probably damaging	Het
Dcstamp	A	G	15: 39,759,540	Y419C	probably damaging	Het
Eif3d	G	A	15: 77,961,847	R359C	probably damaging	Het
Elavl4	C	A	4: 110,206,603	G267V	probably benign	Het
Gars	T	C	6: 55,065,607	S442P	probably damaging	Het
Gas6	C	T	8: 13,466,764	R578Q	probably null	Het
Hist1h4d	C	A	13: 23,581,796	N65K	possibly damaging	Het
Ifitm6	T	C	7: 141,016,072	I103V	probably benign	Het
Igsf5	T	A	16: 96,386,531	I241N	possibly damaging	Het
Iqce	A	G	5: 140,671,805		probably null	Het
Lap3	A	G	5: 45,504,751	N298D	probably benign	Het
Lca5	A	T	9: 83,401,743	S246T	probably damaging	Het
Mrps5	G	A	2: 127,602,435	G330S	probably damaging	Het
Myh15	C	T	16: 49,069,537	R164C	probably benign	Het
Myo19	C	G	11: 84,910,448	P940R	probably damaging	Het
Olfr1406	T	C	1: 173,184,018	R139G	probably benign	Het
Olfr1445	T	C	19: 12,884,387	F169L	probably benign	Het
Pcdh10	A	G	3: 45,384,168	D920G	probably damaging	Het
Pgm5	A	T	19: 24,824,451		probably null	Het
Phactr4	T	C	4: 132,378,455	E137G	probably damaging	Het
Pkn1	C	T	8: 83,684,722	V239M	probably damaging	Het
Plcz1	T	A	6: 140,039,755	D20V	probably damaging	Het
Prkca	A	T	11: 107,981,647	I429N	probably damaging	Het
Ptk2	A	T	15: 73,304,445	Y251N	probably damaging	Het
R3hdm2	T	C	10: 127,444,402	F31S	probably damaging	Het
Rab11fip1	T	A	8: 27,151,975	E932V	probably damaging	Het
Rilp	A	G	11: 75,511,425	Y250C	probably damaging	Het
Sclt1	A	G	3: 41,661,590	I474T	probably benign	Het
Slc14a2	T	A	18: 78,159,166	D583V	possibly damaging	Het
Slc30a4	A	G	2: 122,686,983	I324T	probably damaging	Het
Slc6a5	G	A	7: 49,927,573	V326I	probably benign	Het
Slco1c1	C	T	6: 141,567,496	T617I	probably damaging	Het
Sntg1	A	G	1: 8,414,271	S442P	possibly damaging	Het
Sys1	G	T	2: 164,464,509	A128S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tmed5	A	G	5: 108,124,596	I212T	probably benign	Het
Tnks	T	C	8: 34,965,665	M1V	probably null	Het
Trpa1	T	C	1: 14,898,268	H452R	probably damaging	Het
Trpm3	T	C	19: 22,978,573	V1133A	probably damaging	Het
Ttn	T	A	2: 76,725,051	I30537F	probably damaging	Het
Ush2a	T	C	1: 188,797,827	V3271A	possibly damaging	Het
Utp20	C	G	10: 88,751,467	G2489R	probably damaging	Het
Vmn1r70	A	T	7: 10,634,475	S278C	probably benign	Het
Wdpcp	G	A	11: 21,711,732	A335T	probably benign	Het
Zc3h18	G	T	8: 122,386,920	R217L	probably damaging	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,036,509		probably benign	Het
Zfp955b	C	T	17: 33,302,187	T210I	possibly damaging	Het

Other mutations in Kif20b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Kif20b	APN	19	34947660	missense	possibly damaging	0.77
IGL01021:Kif20b	APN	19	34938260	missense	possibly damaging	0.89
IGL01590:Kif20b	APN	19	34954726	missense	possibly damaging	0.87
IGL01691:Kif20b	APN	19	34935743	splice site	probably benign
IGL01730:Kif20b	APN	19	34950523	nonsense	probably null
IGL02078:Kif20b	APN	19	34935644	missense	probably damaging	1.00
IGL02174:Kif20b	APN	19	34934458	splice site	probably benign
IGL02536:Kif20b	APN	19	34974559	missense	probably benign	0.42
IGL03029:Kif20b	APN	19	34950913	missense	probably benign
IGL03186:Kif20b	APN	19	34934944	missense	probably benign	0.45
IGL03205:Kif20b	APN	19	34959463	missense	probably damaging	1.00
IGL03493:Kif20b	APN	19	34959550	nonsense	probably null
R0319:Kif20b	UTSW	19	34947732	splice site	probably benign
R1069:Kif20b	UTSW	19	34950851	missense	probably damaging	1.00
R1137:Kif20b	UTSW	19	34937086	critical splice donor site	probably null
R1255:Kif20b	UTSW	19	34950106	missense	probably benign	0.08
R1352:Kif20b	UTSW	19	34924635	missense	probably benign
R1466:Kif20b	UTSW	19	34950599	missense	probably benign	0.00
R1466:Kif20b	UTSW	19	34950599	missense	probably benign	0.00
R1473:Kif20b	UTSW	19	34974496	missense	possibly damaging	0.93
R1545:Kif20b	UTSW	19	34928918	missense	probably damaging	1.00
R1647:Kif20b	UTSW	19	34936790	missense	possibly damaging	0.65
R1648:Kif20b	UTSW	19	34936790	missense	possibly damaging	0.65
R1752:Kif20b	UTSW	19	34938336	missense	probably benign	0.13
R1835:Kif20b	UTSW	19	34956038	missense	probably damaging	1.00
R1889:Kif20b	UTSW	19	34941208	unclassified	probably benign
R1937:Kif20b	UTSW	19	34952878	missense	possibly damaging	0.73
R2112:Kif20b	UTSW	19	34931732	missense	probably benign	0.04
R2315:Kif20b	UTSW	19	34931599	missense	probably damaging	1.00
R2385:Kif20b	UTSW	19	34959419	missense	probably damaging	0.98
R2867:Kif20b	UTSW	19	34940128	missense	probably damaging	1.00
R2867:Kif20b	UTSW	19	34940128	missense	probably damaging	1.00
R3086:Kif20b	UTSW	19	34929715	missense	probably damaging	1.00
R3116:Kif20b	UTSW	19	34970080	missense	probably benign	0.38
R3407:Kif20b	UTSW	19	34950500	missense	probably damaging	1.00
R3834:Kif20b	UTSW	19	34935028	missense	probably damaging	1.00
R3882:Kif20b	UTSW	19	34950080	missense	probably damaging	1.00
R4698:Kif20b	UTSW	19	34951544	missense	probably damaging	1.00
R4721:Kif20b	UTSW	19	34938373	missense	probably benign	0.41
R4883:Kif20b	UTSW	19	34966122	missense	probably benign	0.00
R4901:Kif20b	UTSW	19	34934436	missense	probably benign	0.00
R4923:Kif20b	UTSW	19	34941211	critical splice acceptor site	probably null
R5538:Kif20b	UTSW	19	34952964	nonsense	probably null
R5540:Kif20b	UTSW	19	34938460	missense	probably benign	0.01
R5580:Kif20b	UTSW	19	34949728	splice site	probably null
R5934:Kif20b	UTSW	19	34941321	missense	probably benign	0.02
R6019:Kif20b	UTSW	19	34950464	missense	probably benign	0.00
R6464:Kif20b	UTSW	19	34934441	missense	probably benign
R6613:Kif20b	UTSW	19	34936984	nonsense	probably null
R6745:Kif20b	UTSW	19	34928876	missense	possibly damaging	0.94
R7097:Kif20b	UTSW	19	34974492	missense	probably damaging	0.98
R7237:Kif20b	UTSW	19	34950605	missense	probably damaging	1.00
R7260:Kif20b	UTSW	19	34950210	missense	probably damaging	1.00
R7373:Kif20b	UTSW	19	34935671	missense	probably damaging	1.00
R7418:Kif20b	UTSW	19	34929687	missense	probably damaging	0.99
R7814:Kif20b	UTSW	19	34950955	missense	possibly damaging	0.63
R7861:Kif20b	UTSW	19	34939922	missense	probably damaging	1.00
R7944:Kif20b	UTSW	19	34939922	missense	probably damaging	1.00
Z1088:Kif20b	UTSW	19	34950451	missense	probably damaging	0.99
Z1176:Kif20b	UTSW	19	34952875	missense	probably benign	0.11
Z1177:Kif20b	UTSW	19	34950466	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACTCATTGCTAGTTTACATGCG -3'
(R):5'- CAGGCAGGGGTCATTTCCAAAG -3'

Sequencing Primer
(F):5'- CTCATTGCTAGTTTACATGCGTTAAG -3'
(R):5'- GCAGGGGTCATTTCCAAAGCTATTAC -3'

Posted On

2016-10-24