Mutagenetix > Incidental Mutations

Incidental Mutation 'R4231:Kif20a'

320883

Institutional Source

Beutler Lab

Gene Symbol

Kif20a

Ensembl Gene

ENSMUSG00000003779

Gene Name

kinesin family member 20A

Synonyms

Rabkinesin-6, Rab6kifl

MMRRC Submission

041050-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34624624-34633265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34632038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 775 (N775S)

Ref Sequence

ENSEMBL: ENSMUSP00000130045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025228] [ENSMUST00000133181] [ENSMUST00000166044] [ENSMUST00000167161]

AlphaFold

P97329

Predicted Effect

probably benign
Transcript: ENSMUST00000025228

SMART Domains

Protein: ENSMUSP00000025228
Gene: ENSMUSG00000024370

Domain	Start	End	E-Value	Type
Pfam:APC8	22	152	1.9e-42	PFAM
Blast:TPR	175	202	4e-10	BLAST
TPR	263	296	4.21e1	SMART
TPR	331	364	1.74e-4	SMART
TPR	365	398	1.83e-3	SMART
TPR	399	432	1.37e-2	SMART
TPR	433	466	8.97e0	SMART
TPR	510	543	1.82e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133162

Predicted Effect

probably benign
Transcript: ENSMUST00000133181

SMART Domains

Protein: ENSMUSP00000122420
Gene: ENSMUSG00000024370

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
Pfam:ANAPC8	28	151	6.9e-31	PFAM
Blast:TPR	175	202	4e-10	BLAST
TPR	263	296	4.21e1	SMART
TPR	331	364	1.74e-4	SMART
TPR	365	398	1.83e-3	SMART
TPR	399	432	1.37e-2	SMART
TPR	433	466	8.97e0	SMART
TPR	510	543	1.82e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138400

Predicted Effect

probably benign
Transcript: ENSMUST00000166044
AA Change: N775S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132659
Gene: ENSMUSG00000003779
AA Change: N775S

Domain	Start	End	E-Value	Type
KISc	61	514	3.95e-141	SMART
coiled coil region	559	760	N/A	INTRINSIC
low complexity region	831	842	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167161
AA Change: N775S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130045
Gene: ENSMUSG00000003779
AA Change: N775S

Domain	Start	End	E-Value	Type
KISc	61	514	3.95e-141	SMART
coiled coil region	559	760	N/A	INTRINSIC
low complexity region	831	842	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 24,911,653	G494R	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Crat	T	C	2: 30,413,011	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Fam196b	A	T	11: 34,403,143	E395V	probably benign	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Lrrc71	A	G	3: 87,740,991	I438T	probably benign	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,619,541	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr53	T	C	7: 140,652,740	Y254H	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Pcdh7	G	A	5: 57,719,289	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,808,900	V402A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sart3	A	G	5: 113,771,418	M73T	probably benign	Het
Scn10a	G	T	9: 119,631,544	T1088K	probably damaging	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Setd7	T	C	3: 51,542,730	N92D	probably benign	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	Het

Other mutations in Kif20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02448:Kif20a	APN	18	34628454	missense	possibly damaging	0.49
IGL02654:Kif20a	APN	18	34632023	missense	probably damaging	1.00
IGL02739:Kif20a	APN	18	34628943	nonsense	probably null
R0600:Kif20a	UTSW	18	34629209	missense	probably damaging	1.00
R0748:Kif20a	UTSW	18	34628188	splice site	probably benign
R0856:Kif20a	UTSW	18	34631218	missense	probably benign
R1278:Kif20a	UTSW	18	34626777	missense	probably benign	0.00
R1752:Kif20a	UTSW	18	34631581	missense	possibly damaging	0.82
R2036:Kif20a	UTSW	18	34628462	missense	possibly damaging	0.91
R2143:Kif20a	UTSW	18	34625604	missense	possibly damaging	0.55
R2144:Kif20a	UTSW	18	34625604	missense	possibly damaging	0.55
R4372:Kif20a	UTSW	18	34629478	missense	probably damaging	1.00
R4426:Kif20a	UTSW	18	34631941	missense	probably damaging	1.00
R4584:Kif20a	UTSW	18	34632611	missense	probably damaging	1.00
R5524:Kif20a	UTSW	18	34630625	critical splice donor site	probably null
R5867:Kif20a	UTSW	18	34632415	missense	probably benign	0.01
R5869:Kif20a	UTSW	18	34632415	missense	probably benign	0.01
R5949:Kif20a	UTSW	18	34632415	missense	probably benign	0.01
R5958:Kif20a	UTSW	18	34632415	missense	probably benign	0.01
R5959:Kif20a	UTSW	18	34632415	missense	probably benign	0.01
R5967:Kif20a	UTSW	18	34630527	missense	probably benign	0.10
R5969:Kif20a	UTSW	18	34632415	missense	probably benign	0.01
R6175:Kif20a	UTSW	18	34628146	missense	probably damaging	0.98
R6490:Kif20a	UTSW	18	34629490	missense	possibly damaging	0.84
R6694:Kif20a	UTSW	18	34625526	missense	probably damaging	0.98
R6866:Kif20a	UTSW	18	34628493	missense	probably benign	0.10
R7129:Kif20a	UTSW	18	34632535	missense	probably benign	0.00
R7217:Kif20a	UTSW	18	34629560	missense	probably benign	0.14
R7397:Kif20a	UTSW	18	34627676	missense	probably damaging	1.00
R7585:Kif20a	UTSW	18	34625538	missense	probably benign	0.03
R8302:Kif20a	UTSW	18	34631977	missense	probably damaging	1.00
R8306:Kif20a	UTSW	18	34628391	missense	probably benign	0.00
R8325:Kif20a	UTSW	18	34626922	missense	possibly damaging	0.68
R8697:Kif20a	UTSW	18	34628531	missense	probably benign	0.19
R9022:Kif20a	UTSW	18	34627845	missense	probably benign	0.00
R9331:Kif20a	UTSW	18	34629509	nonsense	probably null
R9345:Kif20a	UTSW	18	34626726	missense	probably benign	0.00
X0027:Kif20a	UTSW	18	34625530	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGTCTGTCTTCAAATGGCTGTTG -3'
(R):5'- TATTCTGCAGCTCAGCCAG -3'

Sequencing Primer
(F):5'- CTGTTGATTGATTTTGGCCACAATC -3'
(R):5'- CCAGGGTCTGGTTCTAAGAAC -3'

Posted On

2015-06-12