Mutagenetix > Incidental Mutation

Incidental Mutation 'R6694:Kif20a'

528516

Institutional Source

Beutler Lab

Gene Symbol

Kif20a

Ensembl Gene

ENSMUSG00000003779

Gene Name

kinesin family member 20A

Synonyms

Rabkinesin-6, Rab6kifl

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34624624-34633265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34625526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 16 (E16G)

Ref Sequence

ENSEMBL: ENSMUSP00000130045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003876] [ENSMUST00000097626] [ENSMUST00000115765] [ENSMUST00000115766] [ENSMUST00000166044] [ENSMUST00000167161]

AlphaFold

P97329

Predicted Effect

probably benign
Transcript: ENSMUST00000003876

SMART Domains

Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778

Domain	Start	End	E-Value	Type
Blast:SANT	15	74	4e-33	BLAST
coiled coil region	97	132	N/A	INTRINSIC
low complexity region	148	161	N/A	INTRINSIC
low complexity region	265	282	N/A	INTRINSIC
low complexity region	323	339	N/A	INTRINSIC
low complexity region	363	378	N/A	INTRINSIC
low complexity region	386	404	N/A	INTRINSIC
low complexity region	505	516	N/A	INTRINSIC
low complexity region	759	773	N/A	INTRINSIC
BROMO	778	886	7.59e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097626

SMART Domains

Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778

Domain	Start	End	E-Value	Type
Blast:SANT	15	74	3e-33	BLAST
coiled coil region	97	132	N/A	INTRINSIC
low complexity region	148	161	N/A	INTRINSIC
low complexity region	250	266	N/A	INTRINSIC
low complexity region	290	305	N/A	INTRINSIC
low complexity region	313	331	N/A	INTRINSIC
low complexity region	432	443	N/A	INTRINSIC
low complexity region	686	700	N/A	INTRINSIC
BROMO	705	813	7.59e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115765

SMART Domains

Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778

Domain	Start	End	E-Value	Type
Blast:SANT	15	74	5e-33	BLAST
coiled coil region	97	132	N/A	INTRINSIC
low complexity region	148	161	N/A	INTRINSIC
low complexity region	265	282	N/A	INTRINSIC
low complexity region	323	339	N/A	INTRINSIC
low complexity region	363	378	N/A	INTRINSIC
low complexity region	386	404	N/A	INTRINSIC
low complexity region	505	516	N/A	INTRINSIC
low complexity region	759	773	N/A	INTRINSIC
BROMO	778	886	7.59e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115766

SMART Domains

Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778

Domain	Start	End	E-Value	Type
Blast:SANT	15	74	4e-33	BLAST
coiled coil region	97	132	N/A	INTRINSIC
low complexity region	148	161	N/A	INTRINSIC
low complexity region	265	282	N/A	INTRINSIC
low complexity region	323	337	N/A	INTRINSIC
low complexity region	435	446	N/A	INTRINSIC
low complexity region	689	703	N/A	INTRINSIC
BROMO	708	816	7.59e-40	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153569

Predicted Effect

probably damaging
Transcript: ENSMUST00000166044
AA Change: E16G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132659
Gene: ENSMUSG00000003779
AA Change: E16G

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 damaging
Transcript: ENSMUST00000167161
AA Change: E16G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130045
Gene: ENSMUSG00000003779
AA Change: E16G

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,930,546	S160N	probably benign	Het
4930444G20Rik	T	C	10: 22,067,721	E120G	probably damaging	Het
Arap3	A	C	18: 37,991,537		probably null	Het
Arhgap10	A	G	8: 77,411,063	F300L	probably benign	Het
Ccdc116	T	C	16: 17,142,791	E54G	probably benign	Het
Cd53	T	A	3: 106,767,386	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,624,505		probably benign	Het
Ddx60	A	G	8: 62,037,070	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,186,882		probably null	Het
Exoc1	T	A	5: 76,549,552	M392K	probably damaging	Het
Exoc3l	G	C	8: 105,290,490	R622G	probably benign	Het
Grid2	C	G	6: 63,931,047	R224G	possibly damaging	Het
Kit	T	C	5: 75,640,757	V568A	possibly damaging	Het
Lhx4	T	C	1: 155,704,710	S257G	probably benign	Het
Med18	C	T	4: 132,459,982	V114I	probably benign	Het
Mrps30	C	T	13: 118,386,961	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,564,333	V645I	probably benign	Het
Nuak2	T	G	1: 132,332,310	S609A	probably damaging	Het
Olfr1393	A	T	11: 49,280,552	I135F	probably benign	Het
Plk4	T	C	3: 40,801,828	V58A	probably damaging	Het
Polq	T	A	16: 37,015,173	F145L	probably null	Het
Rab11fip2	T	C	19: 59,937,275	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,759,984	V246A	probably benign	Het
Rc3h2	A	G	2: 37,400,543	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,579,928		probably benign	Het
Sae1	G	T	7: 16,368,536	A171E	probably damaging	Het
Setd5	T	A	6: 113,143,708	N959K	probably benign	Het
Siae	T	A	9: 37,616,823	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311	G51D	probably damaging	Het
Slc5a11	A	G	7: 123,267,789	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,622,654	S470P	probably damaging	Het
Timd2	A	T	11: 46,670,952	C288*	probably null	Het
Timeless	T	G	10: 128,239,999		probably null	Het
Ubxn8	G	T	8: 33,621,544	Q274K	possibly damaging	Het
Usp29	A	G	7: 6,962,277	E373G	probably benign	Het
Zap70	A	G	1: 36,782,517	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,200,472	Y195D	probably damaging	Het
Zfp74	G	A	7: 29,935,134	A383V	probably damaging	Het
Zfp93	A	T	7: 24,275,913	Q441L	probably damaging	Het
Zfp976	A	T	7: 42,614,186	Y76N	probably damaging	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
R4231:Kif20a	UTSW	18	34632038	missense	probably benign
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
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'- CCCTTAGCTGATAGTGGTGTATAGTC -3'
(R):5'- CAGGATTACTGGCTTTTGATCTC -3'

Sequencing Primer
(F):5'- GGTGTATAGTCTAGGCATCCCAC -3'
(R):5'- ACCTTGTATAAACAACTGTTAGCTG -3'

Posted On

2018-07-24