Mutagenetix > Incidental Mutation

Incidental Mutation 'R7397:Kif20a'

573935

Institutional Source

Beutler Lab

Gene Symbol

Kif20a

Ensembl Gene

ENSMUSG00000003779

Gene Name

kinesin family member 20A

Synonyms

Rabkinesin-6, Rab6kifl

MMRRC Submission

045479-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7397 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34757677-34766330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34760729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 166 (T166A)

Ref Sequence

ENSEMBL: ENSMUSP00000132659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003876] [ENSMUST00000025228] [ENSMUST00000097626] [ENSMUST00000115765] [ENSMUST00000115766] [ENSMUST00000133181] [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: 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: 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

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

probably damaging
Transcript: ENSMUST00000166044
AA Change: T166A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132659
Gene: ENSMUSG00000003779
AA Change: T166A

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: T166A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130045
Gene: ENSMUSG00000003779
AA Change: T166A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,848 (GRCm39)	H3R	unknown	Het
Adam18	T	A	8: 25,136,321 (GRCm39)	E400V	possibly damaging	Het
Ak5	A	T	3: 152,183,989 (GRCm39)	F473I	probably damaging	Het
Arhgef10l	G	A	4: 140,290,115 (GRCm39)	P486S	probably damaging	Het
Asphd1	T	A	7: 126,548,001 (GRCm39)	R101W	possibly damaging	Het
Bhlha15	G	A	5: 144,128,223 (GRCm39)	E112K	probably damaging	Het
C4b	A	T	17: 34,961,364 (GRCm39)	D198E	possibly damaging	Het
Carmil1	G	T	13: 24,228,294 (GRCm39)	P961T	probably damaging	Het
Catsperb	T	C	12: 101,554,282 (GRCm39)	S659P	possibly damaging	Het
Cdh3	C	T	8: 107,263,241 (GRCm39)	R97*	probably null	Het
Cep192	T	C	18: 67,989,268 (GRCm39)	I1805T	probably damaging	Het
Cep250	T	G	2: 155,823,331 (GRCm39)	L995R	probably damaging	Het
Cfap276	T	A	3: 108,450,864 (GRCm39)	I102N	probably benign	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chd5	A	G	4: 152,452,469 (GRCm39)	K809E	possibly damaging	Het
Csmd3	T	C	15: 47,559,130 (GRCm39)	T1467A		Het
Ctla2a	T	A	13: 61,083,463 (GRCm39)	R60S	probably damaging	Het
Cts6	A	T	13: 61,350,014 (GRCm39)	D22E	possibly damaging	Het
Ctsll3	T	A	13: 60,948,532 (GRCm39)	E109V	probably benign	Het
Dgka	G	A	10: 128,556,594 (GRCm39)	P701S	possibly damaging	Het
Dnhd1	A	T	7: 105,354,504 (GRCm39)	I3089F	possibly damaging	Het
Dock2	T	A	11: 34,609,816 (GRCm39)	D208V	probably benign	Het
Fnbp1l	G	T	3: 122,338,286 (GRCm39)	Q520K	probably benign	Het
Foxc1	A	G	13: 31,991,618 (GRCm39)	D143G	probably damaging	Het
Fsip2	G	A	2: 82,815,601 (GRCm39)	R3778Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm4871	A	T	5: 144,969,508 (GRCm39)	C4S	probably damaging	Het
Gpt	C	A	15: 76,582,717 (GRCm39)	T294K	probably benign	Het
Hsd17b4	G	T	18: 50,279,491 (GRCm39)	G157C	probably damaging	Het
Iars1	G	A	13: 49,882,153 (GRCm39)	E1066K	probably benign	Het
Ifih1	G	A	2: 62,453,832 (GRCm39)	T260I	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ipcef1	T	A	10: 6,922,244 (GRCm39)	*338R	probably null	Het
Map3k1	G	A	13: 111,891,742 (GRCm39)	A1171V	probably damaging	Het
Map3k21	T	C	8: 126,661,855 (GRCm39)	F484S	probably damaging	Het
Mbnl1	A	T	3: 60,523,051 (GRCm39)	Q180L	probably benign	Het
Mmp2	T	C	8: 93,562,755 (GRCm39)	F331L	possibly damaging	Het
Ms4a7	G	T	19: 11,298,916 (GRCm39)	H257N	probably benign	Het
Mtbp	T	A	15: 55,432,547 (GRCm39)	S285T	probably benign	Het
Mtrex	A	T	13: 113,058,220 (GRCm39)	D70E	probably benign	Het
Myo1c	A	G	11: 75,562,068 (GRCm39)	N852S	probably benign	Het
Myom3	T	A	4: 135,510,429 (GRCm39)	F574Y	probably damaging	Het
Nbeal2	A	G	9: 110,457,100 (GRCm39)	I2322T	possibly damaging	Het
Nlrp10	A	G	7: 108,523,899 (GRCm39)	L527P	probably damaging	Het
Nudt16l2	A	T	9: 105,021,621 (GRCm39)	W142R	probably damaging	Het
Nxnl1	C	T	8: 72,019,105 (GRCm39)	G40D	probably damaging	Het
Or52n1	C	T	7: 104,382,815 (GRCm39)	C252Y	possibly damaging	Het
Or5af1	C	T	11: 58,722,115 (GRCm39)	T45M	probably benign	Het
Otof	A	T	5: 30,533,051 (GRCm39)	W1564R	probably damaging	Het
Pcdhga7	A	G	18: 37,850,327 (GRCm39)	Y778C	probably benign	Het
Pcnx2	C	T	8: 126,617,624 (GRCm39)		probably null	Het
Pdpr	T	A	8: 111,839,385 (GRCm39)	N169K	possibly damaging	Het
Pkd1l2	C	A	8: 117,762,641 (GRCm39)	V1379F	possibly damaging	Het
Ppp4r1	T	G	17: 66,144,786 (GRCm39)	I801S	probably benign	Het
Ppp4r4	A	T	12: 103,579,065 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,366,327 (GRCm39)	D202G	probably benign	Het
Rap1gap2	T	C	11: 74,305,237 (GRCm39)	T323A	probably benign	Het
Rapgef4	T	C	2: 72,036,010 (GRCm39)	M501T	probably benign	Het
Rbm6	A	G	9: 107,729,718 (GRCm39)	M310T	probably benign	Het
Rdh1	A	T	10: 127,596,047 (GRCm39)	I81F	probably benign	Het
Rock1	C	T	18: 10,097,599 (GRCm39)	A730T	possibly damaging	Het
Rsl1	C	T	13: 67,330,101 (GRCm39)	T183I	possibly damaging	Het
Scyl3	T	C	1: 163,778,487 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,237,236 (GRCm39)	F116L	probably damaging	Het
Syt5	A	T	7: 4,545,395 (GRCm39)		probably null	Het
Tat	T	C	8: 110,724,200 (GRCm39)	L363P	probably damaging	Het
Ttn	A	G	2: 76,601,316 (GRCm39)	V18719A	possibly damaging	Het
Ube2e2	T	A	14: 18,630,339 (GRCm38)	D107V	probably damaging	Het
Vmn1r64	A	G	7: 5,887,013 (GRCm39)	S177P	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,947 (GRCm39)	W214R	probably damaging	Het
Vmn2r25	A	T	6: 123,800,498 (GRCm39)	F615I	probably damaging	Het
Vmn2r91	G	T	17: 18,356,060 (GRCm39)	V576L	probably benign	Het
Vsig10l	A	C	7: 43,117,431 (GRCm39)	T573P	probably damaging	Het
Wdr93	A	G	7: 79,416,172 (GRCm39)	Q276R	probably null	Het
Zc3h7b	T	C	15: 81,653,354 (GRCm39)	V86A	possibly damaging	Het
Zeb1	T	A	18: 5,761,394 (GRCm39)	Y231N	probably damaging	Het
Zfp407	T	C	18: 84,579,944 (GRCm39)	K390E	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R5524:Kif20a	UTSW	18	34,763,678 (GRCm39)	critical splice donor site	probably null
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
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'- CAGGGAGGATTGTAGCTACTCG -3'
(R):5'- TCAGGTGTCGGATGAAGCTG -3'

Sequencing Primer
(F):5'- GATTGTAGCTACTCGTCCGGTC -3'
(R):5'- CTGGCCCTGGAGACTATTAAAG -3'

Posted On

2019-09-13