Mutagenetix > Incidental Mutation

Incidental Mutation 'R1648:Kif20b'

174066

Institutional Source

Beutler Lab

Gene Symbol

Kif20b

Ensembl Gene

ENSMUSG00000024795

Gene Name

kinesin family member 20B

Synonyms

Kif20b, Mphosph1, N-6 kinesin

MMRRC Submission

039684-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R1648 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34922361-34975745 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34936790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 355 (T355S)

Ref Sequence

ENSEMBL: ENSMUSP00000153034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223907] [ENSMUST00000225408]

AlphaFold

Q80WE4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087341
AA Change: T355S

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: T355S

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

possibly damaging
Transcript: ENSMUST00000223907
AA Change: T355S

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

unknown
Transcript: ENSMUST00000224728
AA Change: T22S

Predicted Effect

probably benign
Transcript: ENSMUST00000225408

Meta Mutation Damage Score

0.2276

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.4%

Validation Efficiency

95% (73/77)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,069,420	N1457D	probably benign	Het
Adgb	A	G	10: 10,395,371	F817L	probably damaging	Het
Akap6	A	T	12: 53,142,006	K2068*	probably null	Het
Alms1	T	C	6: 85,678,402	L3310P	probably damaging	Het
Ankrd27	T	A	7: 35,603,853	D219E	probably benign	Het
Atp10a	T	C	7: 58,784,827	V283A	probably damaging	Het
Atp11a	C	T	8: 12,847,495	S270L	probably damaging	Het
Casp3	T	C	8: 46,638,074	S254P	probably benign	Het
Cep104	G	A	4: 153,979,096		probably null	Het
Cep170b	C	T	12: 112,736,372	T423I	probably damaging	Het
Cfap58	A	G	19: 47,955,405	E348G	probably benign	Het
Chd6	A	G	2: 161,042,058	L89S	probably damaging	Het
Cyp2a22	T	C	7: 26,932,368	S488G	probably damaging	Het
D130040H23Rik	C	A	8: 69,302,981	H363Q	probably benign	Het
Dcaf7	T	A	11: 106,051,802	F192I	probably damaging	Het
Ddx20	T	C	3: 105,679,188	I614V	probably benign	Het
Ehbp1	G	A	11: 22,096,000	T558I	probably damaging	Het
Eif2ak3	T	A	6: 70,883,631	V397D	possibly damaging	Het
Eif2b5	T	C	16: 20,502,585	V296A	possibly damaging	Het
Esr1	A	G	10: 5,001,260	E546G	possibly damaging	Het
Fras1	T	A	5: 96,726,613		probably null	Het
G930045G22Rik	T	C	6: 50,846,718		noncoding transcript	Het
Gemin5	A	T	11: 58,147,979	L568*	probably null	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,301,883		probably benign	Het
Gpr155	T	C	2: 73,364,164		probably null	Het
Has1	A	G	17: 17,849,985	Y225H	probably damaging	Het
Hk3	A	G	13: 55,014,461	F110S	probably damaging	Het
Iars	A	G	13: 49,723,002	K848E	possibly damaging	Het
Kif17	A	G	4: 138,269,895	Y43C	probably damaging	Het
Kif21a	T	C	15: 90,994,367	T237A	probably damaging	Het
Klc1	T	C	12: 111,776,887	L216P	probably damaging	Het
Krt7	A	C	15: 101,412,567	S32R	probably damaging	Het
Lama3	A	G	18: 12,532,199	D2330G	possibly damaging	Het
Limch1	T	A	5: 66,999,256	S511R	probably damaging	Het
Luzp2	T	A	7: 55,264,270		probably null	Het
Macc1	T	C	12: 119,446,421	M308T	probably benign	Het
Mroh9	T	G	1: 163,046,056	E510A	probably damaging	Het
Myo1h	G	T	5: 114,336,275	L458F	probably damaging	Het
Neto1	A	T	18: 86,500,054	Y528F	probably damaging	Het
Nlrp9b	T	A	7: 20,026,544	C187S	possibly damaging	Het
Nup160	T	C	2: 90,710,088	Y854H	probably damaging	Het
Odc1	T	C	12: 17,548,537		probably benign	Het
Olfr1436	T	A	19: 12,298,659	I158L	probably benign	Het
Olfr519	A	G	7: 108,893,765	I214T	probably damaging	Het
Olfr642	A	G	7: 104,050,169	Y62H	probably damaging	Het
Plcb2	A	T	2: 118,723,780	M64K	possibly damaging	Het
Plcxd3	A	T	15: 4,375,809	I33F	probably benign	Het
Postn	A	G	3: 54,376,101	T534A	probably damaging	Het
Prkd2	T	A	7: 16,857,807	F588I	possibly damaging	Het
Prrg4	C	A	2: 104,832,743	A173S	probably benign	Het
Rinl	C	T	7: 28,797,632	A519V	probably damaging	Het
Rpgrip1l	A	C	8: 91,252,889	V975G	probably damaging	Het
Rps6ka4	C	A	19: 6,839,362	V118L	probably benign	Het
Rtkn	T	C	6: 83,135,994	S16P	probably damaging	Het
Sbspon	C	A	1: 15,883,759	R99L	probably damaging	Het
Sdf4	G	A	4: 155,999,429	A119T	probably damaging	Het
Sgpp1	T	A	12: 75,716,216	H397L	possibly damaging	Het
Shc2	T	A	10: 79,626,111	M367L	probably benign	Het
Slc26a5	T	A	5: 21,813,976	K590*	probably null	Het
Slc39a12	T	C	2: 14,451,992	V597A	probably benign	Het
Smcp	A	T	3: 92,584,481	C20S	unknown	Het
Tdrd6	A	C	17: 43,627,109	V1016G	possibly damaging	Het
Tmem132c	T	A	5: 127,463,056		probably benign	Het
Tmem170b	A	T	13: 41,606,262	Q16L	probably null	Het
Tmem30a	A	G	9: 79,793,029	F61S	probably damaging	Het
Tnfsf13b	T	C	8: 10,031,534	M232T	probably damaging	Het
Trip11	T	A	12: 101,884,392	K853*	probably null	Het
Tusc3	C	A	8: 39,046,567	S64*	probably null	Het
Vmn2r111	A	T	17: 22,569,061	D436E	probably benign	Het
Zfp607a	T	C	7: 27,879,068	V521A	probably benign	Het
Zfp704	A	T	3: 9,471,039	S140R	probably 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
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
R5558:Kif20b	UTSW	19	34951549	missense	probably damaging	1.00
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
R8017:Kif20b	UTSW	19	34939879	missense	probably damaging	1.00
R8696:Kif20b	UTSW	19	34937352	missense	probably benign	0.02
R8724:Kif20b	UTSW	19	34938746	unclassified	probably benign
R8849:Kif20b	UTSW	19	34938316	nonsense	probably null
R8947:Kif20b	UTSW	19	34941229	missense	possibly damaging	0.46
R8998:Kif20b	UTSW	19	34936853	splice site	probably benign
R9017:Kif20b	UTSW	19	34949803	missense	probably benign	0.00
R9245:Kif20b	UTSW	19	34938325	missense	probably benign	0.02
R9613:Kif20b	UTSW	19	34942534	missense	possibly damaging	0.80
R9619:Kif20b	UTSW	19	34956029	missense	probably damaging	1.00
R9732:Kif20b	UTSW	19	34952953	missense	probably benign	0.18
R9746:Kif20b	UTSW	19	34950749	nonsense	probably null
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'- TCGAGTCCAGGGTTTCACATGCAC -3'
(R):5'- TCATGCTTCGTTCTGAACCAGCAAG -3'

Sequencing Primer
(F):5'- cagagacccattcagtagcc -3'
(R):5'- GTTCTGAACCAGCAAGATCACATAG -3'

Posted On

2014-04-24