Mutagenetix > Incidental Mutation

Incidental Mutation 'R5524:Kif20a'

431787

Institutional Source

Beutler Lab

Gene Symbol

Kif20a

Ensembl Gene

ENSMUSG00000003779

Gene Name

kinesin family member 20A

Synonyms

Rabkinesin-6, Rab6kifl

MMRRC Submission

043082-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34757677-34766330 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 34763678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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: ENSMUST00000138400

Predicted Effect

probably null
Transcript: ENSMUST00000166044

SMART Domains

Protein: ENSMUSP00000132659
Gene: ENSMUSG00000003779

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 null
Transcript: ENSMUST00000167161

SMART Domains

Protein: ENSMUSP00000130045
Gene: ENSMUSG00000003779

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

0.9496

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	A	7: 82,503,150 (GRCm39)		noncoding transcript	Het
6030469F06Rik	A	G	12: 31,234,862 (GRCm39)		noncoding transcript	Het
A830031A19Rik	T	A	11: 24,008,776 (GRCm39)	I13F	unknown	Het
Acsbg2	A	C	17: 57,157,197 (GRCm39)	L309R	probably damaging	Het
Adam32	A	T	8: 25,412,328 (GRCm39)	M76K	probably damaging	Het
Adamts14	C	A	10: 61,066,222 (GRCm39)	R297L	probably damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Asb14	A	G	14: 26,622,408 (GRCm39)	K80E	possibly damaging	Het
Baiap2l1	T	C	5: 144,217,759 (GRCm39)	T276A	probably benign	Het
Cacna1d	G	A	14: 29,764,086 (GRCm39)	P2127S	probably benign	Het
Ces2g	A	G	8: 105,693,527 (GRCm39)	T403A	probably benign	Het
Cgn	A	C	3: 94,687,299 (GRCm39)	M1R	probably null	Het
Chd5	T	G	4: 152,461,087 (GRCm39)	S1226A	probably benign	Het
Col18a1	A	G	10: 76,894,558 (GRCm39)	V1497A	probably damaging	Het
Cpd	A	T	11: 76,688,727 (GRCm39)	Y848*	probably null	Het
Cyp2a12	T	C	7: 26,730,656 (GRCm39)	V207A	probably benign	Het
Cyth1	G	A	11: 118,073,593 (GRCm39)	R247W	probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eml1	A	T	12: 108,487,635 (GRCm39)	I518L	probably damaging	Het
Eri1	A	G	8: 35,945,763 (GRCm39)	V174A	probably benign	Het
Fgd3	T	A	13: 49,431,053 (GRCm39)	I435F	probably damaging	Het
Foxd1	T	G	13: 98,492,412 (GRCm39)	S429A	unknown	Het
Ftcd	T	A	10: 76,425,165 (GRCm39)		probably benign	Het
Gm5478	G	T	15: 101,553,102 (GRCm39)	N323K	probably benign	Het
Gnpda1	G	T	18: 38,468,161 (GRCm39)	P45Q	probably damaging	Het
Klrb1	T	C	6: 128,689,296 (GRCm39)		probably null	Het
Lcorl	C	A	5: 45,932,864 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,932,865 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,000,900 (GRCm39)	K2108M	probably damaging	Het
Lyst	C	T	13: 13,921,364 (GRCm39)	P3437S	probably benign	Het
Macrod2	A	T	2: 142,159,863 (GRCm39)	M349L	possibly damaging	Het
Marchf7	T	C	2: 60,075,647 (GRCm39)		probably benign	Het
Mcm9	A	T	10: 53,424,786 (GRCm39)	C601*	probably null	Het
Muc19	G	T	15: 91,778,587 (GRCm39)		noncoding transcript	Het
Mycbp2	T	C	14: 103,532,673 (GRCm39)	D427G	probably damaging	Het
Nap1l5	C	A	6: 58,883,763 (GRCm39)	V64L	possibly damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Npas3	T	C	12: 54,115,721 (GRCm39)	V863A	possibly damaging	Het
Nr2c2	T	A	6: 92,116,746 (GRCm39)		probably null	Het
Oosp3	T	C	19: 11,682,794 (GRCm39)	F56S	possibly damaging	Het
Or1a1b	A	T	11: 74,097,409 (GRCm39)	L211Q	probably damaging	Het
Or5k17	C	T	16: 58,746,172 (GRCm39)	C254Y	probably benign	Het
Or8g20	C	T	9: 39,396,283 (GRCm39)	V89M	probably damaging	Het
Plgrkt	G	A	19: 29,327,850 (GRCm39)	P78S	probably damaging	Het
Prss36	G	A	7: 127,533,637 (GRCm39)	Q56*	probably null	Het
Ptprz1	A	G	6: 22,986,317 (GRCm39)		probably null	Het
Qsox2	A	T	2: 26,107,699 (GRCm39)	F265I	probably damaging	Het
R3hcc1l	G	T	19: 42,552,307 (GRCm39)	E435*	probably null	Het
Shbg	T	C	11: 69,507,588 (GRCm39)	D163G	probably benign	Het
Skint7	T	A	4: 111,837,546 (GRCm39)	L108H	probably damaging	Het
Smtnl1	T	A	2: 84,649,238 (GRCm39)	E5D	probably benign	Het
Spock1	C	T	13: 57,704,608 (GRCm39)	G120D	probably damaging	Het
Stk11ip	G	T	1: 75,508,971 (GRCm39)	C700F	probably damaging	Het
Sult4a1	C	T	15: 83,974,159 (GRCm39)		probably null	Het
Syngap1	A	G	17: 27,176,126 (GRCm39)	H138R	probably damaging	Het
Tdrd7	A	G	4: 46,034,301 (GRCm39)	K1016E	probably benign	Het
Tmem167b	T	C	3: 108,467,569 (GRCm39)	K26E	possibly damaging	Het
Tnfaip3	A	G	10: 18,883,943 (GRCm39)	S146P	probably damaging	Het
Ttn	C	T	2: 76,607,060 (GRCm39)	V16242I	possibly damaging	Het
Vmn2r-ps3	T	A	3: 63,960,870 (GRCm39)		noncoding transcript	Het
Vps13c	T	C	9: 67,864,838 (GRCm39)	F3049S	probably damaging	Het
Vstm2l	T	C	2: 157,777,355 (GRCm39)	W78R	probably damaging	Het
Wbp1l	C	A	19: 46,642,695 (GRCm39)	A216D	possibly damaging	Het
Zer1	C	G	2: 29,994,866 (GRCm39)	V510L	probably damaging	Het
Zfp28	A	T	7: 6,397,850 (GRCm39)		probably null	Het
Zfp352	C	A	4: 90,113,341 (GRCm39)	P494T	possibly damaging	Het
Zfp353-ps	A	G	8: 42,535,600 (GRCm39)		noncoding transcript	Het
Zfp563	A	T	17: 33,321,515 (GRCm39)		probably null	Het
Zim1	T	C	7: 6,680,320 (GRCm39)	N448D	probably benign	Het

Other mutations in Kif20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02448:Kif20a	APN	18	34,761,507 (GRCm39)	missense	possibly damaging	0.49
IGL02654:Kif20a	APN	18	34,765,076 (GRCm39)	missense	probably damaging	1.00
IGL02739:Kif20a	APN	18	34,761,996 (GRCm39)	nonsense	probably null
R0600:Kif20a	UTSW	18	34,762,262 (GRCm39)	missense	probably damaging	1.00
R0748:Kif20a	UTSW	18	34,761,241 (GRCm39)	splice site	probably benign
R0856:Kif20a	UTSW	18	34,764,271 (GRCm39)	missense	probably benign
R1278:Kif20a	UTSW	18	34,759,830 (GRCm39)	missense	probably benign	0.00
R1752:Kif20a	UTSW	18	34,764,634 (GRCm39)	missense	possibly damaging	0.82
R2036:Kif20a	UTSW	18	34,761,515 (GRCm39)	missense	possibly damaging	0.91
R2143:Kif20a	UTSW	18	34,758,657 (GRCm39)	missense	possibly damaging	0.55
R2144:Kif20a	UTSW	18	34,758,657 (GRCm39)	missense	possibly damaging	0.55
R4231:Kif20a	UTSW	18	34,765,091 (GRCm39)	missense	probably benign
R4372:Kif20a	UTSW	18	34,762,531 (GRCm39)	missense	probably damaging	1.00
R4426:Kif20a	UTSW	18	34,764,994 (GRCm39)	missense	probably damaging	1.00
R4584:Kif20a	UTSW	18	34,765,664 (GRCm39)	missense	probably damaging	1.00
R5867:Kif20a	UTSW	18	34,765,468 (GRCm39)	missense	probably benign	0.01
R5869:Kif20a	UTSW	18	34,765,468 (GRCm39)	missense	probably benign	0.01
R5949:Kif20a	UTSW	18	34,765,468 (GRCm39)	missense	probably benign	0.01
R5958:Kif20a	UTSW	18	34,765,468 (GRCm39)	missense	probably benign	0.01
R5959:Kif20a	UTSW	18	34,765,468 (GRCm39)	missense	probably benign	0.01
R5967:Kif20a	UTSW	18	34,763,580 (GRCm39)	missense	probably benign	0.10
R5969:Kif20a	UTSW	18	34,765,468 (GRCm39)	missense	probably benign	0.01
R6175:Kif20a	UTSW	18	34,761,199 (GRCm39)	missense	probably damaging	0.98
R6490:Kif20a	UTSW	18	34,762,543 (GRCm39)	missense	possibly damaging	0.84
R6694:Kif20a	UTSW	18	34,758,579 (GRCm39)	missense	probably damaging	0.98
R6866:Kif20a	UTSW	18	34,761,546 (GRCm39)	missense	probably benign	0.10
R7129:Kif20a	UTSW	18	34,765,588 (GRCm39)	missense	probably benign	0.00
R7217:Kif20a	UTSW	18	34,762,613 (GRCm39)	missense	probably benign	0.14
R7397:Kif20a	UTSW	18	34,760,729 (GRCm39)	missense	probably damaging	1.00
R7585:Kif20a	UTSW	18	34,758,591 (GRCm39)	missense	probably benign	0.03
R8302:Kif20a	UTSW	18	34,765,030 (GRCm39)	missense	probably damaging	1.00
R8306:Kif20a	UTSW	18	34,761,444 (GRCm39)	missense	probably benign	0.00
R8325:Kif20a	UTSW	18	34,759,975 (GRCm39)	missense	possibly damaging	0.68
R8697:Kif20a	UTSW	18	34,761,584 (GRCm39)	missense	probably benign	0.19
R9022:Kif20a	UTSW	18	34,760,898 (GRCm39)	missense	probably benign	0.00
R9331:Kif20a	UTSW	18	34,762,562 (GRCm39)	nonsense	probably null
R9345:Kif20a	UTSW	18	34,759,779 (GRCm39)	missense	probably benign	0.00
R9716:Kif20a	UTSW	18	34,762,228 (GRCm39)	missense	possibly damaging	0.66
X0027:Kif20a	UTSW	18	34,758,583 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTGCAACGAAATGGTGGAAC -3'
(R):5'- CCATAAGATGCTGGCAGTGG -3'

Sequencing Primer
(F):5'- TGGTGGAACAGATGCAACAGC -3'
(R):5'- AGTGTGTGCCTTTGTCCCAAG -3'

Posted On

2016-10-05