Mutagenetix > Incidental Mutation

Incidental Mutation 'R0440:Kif5b'

46726

Institutional Source

Beutler Lab

Gene Symbol

Kif5b

Ensembl Gene

ENSMUSG00000006740

Gene Name

kinesin family member 5B

Synonyms

kinesin heavy chain, Khc

MMRRC Submission

038641-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0440 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

6201005-6241524 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 6226980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025083] [ENSMUST00000163210]

AlphaFold

Q61768

Predicted Effect

probably benign
Transcript: ENSMUST00000025083

SMART Domains

Protein: ENSMUSP00000025083
Gene: ENSMUSG00000006740

Domain	Start	End	E-Value	Type
KISc	6	333	4.48e-172	SMART
low complexity region	341	352	N/A	INTRINSIC
coiled coil region	412	564	N/A	INTRINSIC
coiled coil region	596	802	N/A	INTRINSIC
coiled coil region	825	914	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163210

SMART Domains

Protein: ENSMUSP00000130750
Gene: ENSMUSG00000006740

Domain	Start	End	E-Value	Type
KISc	6	333	4.48e-172	SMART
low complexity region	341	352	N/A	INTRINSIC
coiled coil region	412	564	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168187

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

99% (68/69)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos during organogenesis, exhibit growth retardation and fail to turn during gastrulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,694 (GRCm39)	R30W	probably damaging	Het
Adam7	T	C	14: 68,748,305 (GRCm39)		probably null	Het
Agl	A	T	3: 116,552,455 (GRCm39)	L1158Q	probably damaging	Het
Akap9	T	C	5: 4,114,569 (GRCm39)	S66P	probably damaging	Het
Akr1c20	T	A	13: 4,537,207 (GRCm39)	D316V	probably benign	Het
App	C	A	16: 84,853,302 (GRCm39)	E259*	probably null	Het
Arhgef4	A	G	1: 34,784,529 (GRCm39)		probably null	Het
Armc9	G	A	1: 86,121,984 (GRCm39)		probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Btaf1	C	T	19: 36,964,053 (GRCm39)	P875S	probably damaging	Het
Cc2d1b	T	A	4: 108,483,013 (GRCm39)		probably null	Het
Ccar1	C	T	10: 62,616,236 (GRCm39)	V165I	possibly damaging	Het
Ccdc106	A	T	7: 5,063,244 (GRCm39)	I250F	probably damaging	Het
Ccny	T	C	18: 9,332,917 (GRCm39)	I205V	probably benign	Het
Cfap52	T	A	11: 67,844,914 (GRCm39)	I52L	probably benign	Het
Chd8	T	A	14: 52,442,283 (GRCm39)	T2096S	possibly damaging	Het
Clstn3	G	A	6: 124,428,372 (GRCm39)	T423I	probably damaging	Het
Col13a1	T	C	10: 61,703,262 (GRCm39)	D440G	possibly damaging	Het
Dclk3	G	A	9: 111,298,231 (GRCm39)	V592M	probably damaging	Het
Ddx31	A	T	2: 28,747,144 (GRCm39)	I208F	probably damaging	Het
Dlat	A	T	9: 50,556,419 (GRCm39)		probably null	Het
Eml4	T	C	17: 83,753,487 (GRCm39)		probably null	Het
Enpp2	T	A	15: 54,710,633 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,244,315 (GRCm39)	S38G	possibly damaging	Het
Gcnt1	G	A	19: 17,307,680 (GRCm39)	T15I	probably benign	Het
Gm21834	T	C	17: 58,049,121 (GRCm39)	T32A	possibly damaging	Het
Golga2	A	G	2: 32,192,945 (GRCm39)	D394G	probably damaging	Het
Gtf3c4	G	T	2: 28,730,181 (GRCm39)		probably null	Het
Igkv4-69	A	G	6: 69,261,253 (GRCm39)		probably benign	Het
Inpp5j	T	C	11: 3,451,150 (GRCm39)	R500G	possibly damaging	Het
Klhl36	A	G	8: 120,603,290 (GRCm39)	E515G	probably damaging	Het
Lifr	C	T	15: 7,186,672 (GRCm39)	R59*	probably null	Het
Lrif1	A	T	3: 106,641,714 (GRCm39)	Q10L	possibly damaging	Het
Lrp8	A	G	4: 107,726,295 (GRCm39)	E908G	probably damaging	Het
Lrrc23	A	T	6: 124,747,667 (GRCm39)	D307E	probably benign	Het
Mpv17l	T	C	16: 13,762,583 (GRCm39)	F27L	probably damaging	Het
Mta3	C	T	17: 84,074,016 (GRCm39)	A76V	probably damaging	Het
Muc5ac	T	A	7: 141,345,771 (GRCm39)	Y202*	probably null	Het
Naprt	A	G	15: 75,762,918 (GRCm39)		probably benign	Het
Npr2	T	A	4: 43,650,315 (GRCm39)	V960D	probably damaging	Het
Oca2	A	T	7: 56,073,100 (GRCm39)	Y765F	probably benign	Het
Or2d2	A	T	7: 106,727,939 (GRCm39)	H220Q	probably benign	Het
Plxna2	T	A	1: 194,326,712 (GRCm39)	Y215*	probably null	Het
Prdm16	G	A	4: 154,561,084 (GRCm39)		probably benign	Het
Ptn	A	G	6: 36,721,432 (GRCm39)	S3P	probably benign	Het
Pus10	T	C	11: 23,623,331 (GRCm39)		probably benign	Het
Rad21	A	T	15: 51,831,754 (GRCm39)	D442E	probably benign	Het
Rmdn2	A	G	17: 79,975,384 (GRCm39)	H291R	probably damaging	Het
Rp1	A	G	1: 4,415,863 (GRCm39)	S1750P	probably damaging	Het
Samd4b	A	T	7: 28,107,585 (GRCm39)	I228N	probably benign	Het
Sdr9c7	G	T	10: 127,734,822 (GRCm39)		probably benign	Het
Slc13a2	T	C	11: 78,294,001 (GRCm39)	N254D	probably benign	Het
Slc16a8	T	A	15: 79,136,807 (GRCm39)	I132F	probably damaging	Het
Slc18b1	T	A	10: 23,694,976 (GRCm39)	Y274N	probably benign	Het
Slc45a2	A	T	15: 11,000,903 (GRCm39)	M1L	probably benign	Het
Smc1b	A	G	15: 84,996,874 (GRCm39)		probably benign	Het
Stab2	T	C	10: 86,785,792 (GRCm39)	S617G	probably benign	Het
Stk10	A	G	11: 32,554,190 (GRCm39)	M626V	probably damaging	Het
Synpo2l	T	G	14: 20,711,466 (GRCm39)	I385L	possibly damaging	Het
Tmprss11d	T	C	5: 86,486,671 (GRCm39)	Y73C	probably damaging	Het
Ttc21b	A	G	2: 66,066,726 (GRCm39)	V309A	probably benign	Het
Tubgcp6	A	G	15: 88,987,268 (GRCm39)	I1235T	probably benign	Het
Usp8	A	G	2: 126,567,310 (GRCm39)	I110V	probably benign	Het
Vps13c	G	A	9: 67,880,143 (GRCm39)	G3442S	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Zfp207	T	A	11: 80,286,333 (GRCm39)		probably benign	Het
Zfp748	A	C	13: 67,701,144 (GRCm39)		probably null	Het

Other mutations in Kif5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Kif5b	APN	18	6,226,973 (GRCm39)	splice site	probably benign
IGL01697:Kif5b	APN	18	6,226,871 (GRCm39)	missense	possibly damaging	0.68
IGL01759:Kif5b	APN	18	6,211,019 (GRCm39)	unclassified	probably benign
IGL01759:Kif5b	APN	18	6,225,647 (GRCm39)	missense	probably damaging	0.99
IGL02027:Kif5b	APN	18	6,209,089 (GRCm39)	missense	possibly damaging	0.81
IGL02553:Kif5b	APN	18	6,220,914 (GRCm39)	missense	probably benign	0.00
IGL03327:Kif5b	APN	18	6,222,767 (GRCm39)	missense	probably damaging	0.96
IGL03346:Kif5b	APN	18	6,222,767 (GRCm39)	missense	probably damaging	0.96
e-enhancer	UTSW	18	6,213,272 (GRCm39)	missense	probably benign	0.00
R0743:Kif5b	UTSW	18	6,209,192 (GRCm39)	missense	probably damaging	1.00
R1241:Kif5b	UTSW	18	6,214,044 (GRCm39)	missense	probably benign	0.07
R1386:Kif5b	UTSW	18	6,226,383 (GRCm39)	missense	probably damaging	0.99
R1720:Kif5b	UTSW	18	6,213,427 (GRCm39)	missense	probably benign
R1964:Kif5b	UTSW	18	6,209,059 (GRCm39)	missense	possibly damaging	0.85
R2061:Kif5b	UTSW	18	6,226,377 (GRCm39)	splice site	probably null
R2091:Kif5b	UTSW	18	6,213,248 (GRCm39)	nonsense	probably null
R4510:Kif5b	UTSW	18	6,214,011 (GRCm39)	missense	probably benign	0.01
R4511:Kif5b	UTSW	18	6,214,011 (GRCm39)	missense	probably benign	0.01
R4515:Kif5b	UTSW	18	6,208,257 (GRCm39)	missense	probably benign
R4517:Kif5b	UTSW	18	6,213,272 (GRCm39)	missense	probably benign	0.00
R4690:Kif5b	UTSW	18	6,216,759 (GRCm39)	missense	probably benign
R4838:Kif5b	UTSW	18	6,216,869 (GRCm39)	missense	probably damaging	1.00
R4865:Kif5b	UTSW	18	6,222,912 (GRCm39)	intron	probably benign
R4906:Kif5b	UTSW	18	6,220,930 (GRCm39)	missense	probably benign	0.00
R5260:Kif5b	UTSW	18	6,211,058 (GRCm39)	missense	probably damaging	1.00
R5290:Kif5b	UTSW	18	6,234,882 (GRCm39)	missense	probably damaging	1.00
R5517:Kif5b	UTSW	18	6,220,954 (GRCm39)	missense	probably benign	0.00
R5588:Kif5b	UTSW	18	6,225,787 (GRCm39)	missense	probably benign	0.03
R5621:Kif5b	UTSW	18	6,226,883 (GRCm39)	missense	probably benign	0.41
R6269:Kif5b	UTSW	18	6,223,558 (GRCm39)	missense	possibly damaging	0.88
R6377:Kif5b	UTSW	18	6,212,562 (GRCm39)	missense	probably damaging	1.00
R6955:Kif5b	UTSW	18	6,211,070 (GRCm39)	missense	probably benign	0.09
R7256:Kif5b	UTSW	18	6,225,340 (GRCm39)	missense	probably damaging	0.99
R7536:Kif5b	UTSW	18	6,216,235 (GRCm39)	missense	probably benign	0.05
R7892:Kif5b	UTSW	18	6,212,517 (GRCm39)	missense	probably benign	0.02
R7962:Kif5b	UTSW	18	6,241,040 (GRCm39)	missense	probably benign	0.02
R8238:Kif5b	UTSW	18	6,227,619 (GRCm39)	missense	probably damaging	1.00
R8444:Kif5b	UTSW	18	6,213,245 (GRCm39)	missense	probably benign	0.00
R8464:Kif5b	UTSW	18	6,225,381 (GRCm39)	missense	probably damaging	1.00
R8670:Kif5b	UTSW	18	6,214,631 (GRCm39)	missense	probably benign	0.01
R8691:Kif5b	UTSW	18	6,225,787 (GRCm39)	missense	probably benign	0.38
R8796:Kif5b	UTSW	18	6,226,965 (GRCm39)	missense	probably benign	0.01
R8897:Kif5b	UTSW	18	6,225,437 (GRCm39)	missense	probably damaging	1.00
R8989:Kif5b	UTSW	18	6,209,021 (GRCm39)	missense	probably damaging	0.98
R9003:Kif5b	UTSW	18	6,224,047 (GRCm39)	missense	probably benign	0.33
R9015:Kif5b	UTSW	18	6,216,892 (GRCm39)	missense	probably damaging	0.99
R9047:Kif5b	UTSW	18	6,208,261 (GRCm39)	missense	probably benign
R9369:Kif5b	UTSW	18	6,223,584 (GRCm39)	missense	probably damaging	1.00
R9622:Kif5b	UTSW	18	6,225,672 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCACAACTCCAAAGTGTGAGTC -3'
(R):5'- AAGTGATTGTCTCCTGAATATCTGCTGC -3'

Sequencing Primer
(F):5'- TTTGACTTCCAGGAAGCAGC -3'
(R):5'- ctatatcagccagggccac -3'

Posted On

2013-06-11