Mutagenetix > Incidental Mutation

Incidental Mutation 'R3727:Kif13b'

270845

Institutional Source

Beutler Lab

Gene Symbol

Kif13b

Ensembl Gene

ENSMUSG00000060012

Gene Name

kinesin family member 13B

Synonyms

C130021D12Rik, 5330429L19Rik, N-3 kinesin, GAKIN

MMRRC Submission

040718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3727 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64889633-65047067 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 65003197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100473] [ENSMUST00000224503]

AlphaFold

A0A286YCV9

Predicted Effect

probably benign
Transcript: ENSMUST00000100473

SMART Domains

Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012

Domain	Start	End	E-Value	Type
KISc	3	361	1.4e-182	SMART
FHA	470	520	6.86e-1	SMART
low complexity region	546	560	N/A	INTRINSIC
coiled coil region	617	646	N/A	INTRINSIC
coiled coil region	669	701	N/A	INTRINSIC
Pfam:KIF1B	756	802	4.1e-20	PFAM
Pfam:DUF3694	1003	1279	1.4e-37	PFAM
low complexity region	1514	1526	N/A	INTRINSIC
low complexity region	1532	1548	N/A	INTRINSIC
low complexity region	1574	1589	N/A	INTRINSIC
low complexity region	1617	1630	N/A	INTRINSIC
CAP_GLY	1719	1784	1.54e-29	SMART
low complexity region	1814	1826	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224503

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (39/39)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit increased circulating cholesterol and factor VIII levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	C	T	15: 72,985,706 (GRCm39)	V630M	probably damaging	Het
Alk	T	C	17: 72,208,395 (GRCm39)		probably benign	Het
Atp6v0a1	T	A	11: 100,921,246 (GRCm39)	S243T	probably benign	Het
BC035044	C	A	6: 128,867,822 (GRCm39)	G37*	probably null	Het
C3	G	T	17: 57,514,379 (GRCm39)	N1435K	possibly damaging	Het
Caly	T	C	7: 139,650,417 (GRCm39)	E175G	probably damaging	Het
Ccng2	T	C	5: 93,422,810 (GRCm39)	F330S	probably damaging	Het
Cemip2	G	A	19: 21,822,075 (GRCm39)	A1157T	probably benign	Het
Cyp2c38	A	G	19: 39,380,739 (GRCm39)		probably benign	Het
Cypt1	T	A	X: 16,389,674 (GRCm39)	L128*	probably null	Het
Dmgdh	A	G	13: 93,828,575 (GRCm39)	N239D	probably damaging	Het
Dnah8	C	T	17: 30,958,622 (GRCm39)	Q2155*	probably null	Het
Dpp3	A	G	19: 4,973,213 (GRCm39)	I127T	probably benign	Het
Eps15	G	T	4: 109,227,882 (GRCm39)		probably benign	Het
Exosc10	A	G	4: 148,649,734 (GRCm39)	D388G	probably damaging	Het
Flt3	C	A	5: 147,291,733 (GRCm39)	R572S	probably damaging	Het
Gm44501	T	C	17: 40,887,506 (GRCm39)	F8S	unknown	Het
Hormad2	C	A	11: 4,358,598 (GRCm39)	G270C	probably benign	Het
Ifrd2	C	T	9: 107,468,881 (GRCm39)	R40*	probably null	Het
Ina	G	A	19: 47,004,158 (GRCm39)	R322H	possibly damaging	Het
Lrp2	T	C	2: 69,340,773 (GRCm39)	N1034S	probably damaging	Het
Macf1	T	A	4: 123,353,104 (GRCm39)	E1770V	probably damaging	Het
Mpi	T	C	9: 57,452,132 (GRCm39)	I381M	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nt5c	C	T	11: 115,381,474 (GRCm39)	W185*	probably null	Het
Or2j3	A	T	17: 38,616,310 (GRCm39)	I14N	possibly damaging	Het
Or2y1e	G	A	11: 49,218,622 (GRCm39)	R128H	probably benign	Het
Pcdhga9	G	A	18: 37,871,995 (GRCm39)	R608H	probably benign	Het
Pdzrn3	T	A	6: 101,133,906 (GRCm39)	D441V	probably damaging	Het
Rab42	A	G	4: 132,029,964 (GRCm39)	M86T	probably benign	Het
Slc52a3	C	T	2: 151,847,701 (GRCm39)	P270S	probably benign	Het
Stpg2	T	C	3: 139,004,257 (GRCm39)	F278S	probably damaging	Het
Styxl2	G	A	1: 165,927,075 (GRCm39)	R846C	probably damaging	Het
Tmem240	T	C	4: 155,824,235 (GRCm39)		probably benign	Het
Vmn2r22	A	G	6: 123,627,584 (GRCm39)	L4P	possibly damaging	Het
Vmn2r95	C	T	17: 18,661,744 (GRCm39)	Q497*	probably null	Het
Wnk1	T	C	6: 119,969,414 (GRCm39)	H347R	probably damaging	Het
Zmym2	A	T	14: 57,156,806 (GRCm39)		probably benign	Het

Other mutations in Kif13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Kif13b	APN	14	64,907,142 (GRCm39)	missense	possibly damaging	0.81
IGL00485:Kif13b	APN	14	65,002,522 (GRCm39)	missense	possibly damaging	0.88
IGL00495:Kif13b	APN	14	64,951,562 (GRCm39)	missense	probably benign	0.07
IGL00556:Kif13b	APN	14	64,982,337 (GRCm39)	missense	probably damaging	1.00
IGL00571:Kif13b	APN	14	64,983,866 (GRCm39)	missense	probably damaging	0.99
IGL00590:Kif13b	APN	14	65,016,911 (GRCm39)	missense	probably damaging	1.00
IGL01650:Kif13b	APN	14	65,002,594 (GRCm39)	missense	probably benign	0.00
IGL01730:Kif13b	APN	14	64,987,810 (GRCm39)	critical splice donor site	probably null
IGL01908:Kif13b	APN	14	64,995,007 (GRCm39)	missense	probably damaging	1.00
IGL02388:Kif13b	APN	14	65,037,807 (GRCm39)	missense	probably damaging	1.00
IGL02573:Kif13b	APN	14	65,040,880 (GRCm39)	missense	probably damaging	1.00
IGL02661:Kif13b	APN	14	65,005,140 (GRCm39)	missense	probably benign	0.06
IGL02794:Kif13b	APN	14	65,040,889 (GRCm39)	missense	probably benign	0.00
IGL02959:Kif13b	APN	14	65,005,166 (GRCm39)	missense	probably damaging	1.00
IGL02979:Kif13b	APN	14	65,027,146 (GRCm39)	missense	probably damaging	0.96
IGL03114:Kif13b	APN	14	65,025,897 (GRCm39)	missense	probably benign	0.00
R0024:Kif13b	UTSW	14	64,987,722 (GRCm39)	missense	probably benign	0.30
R0330:Kif13b	UTSW	14	65,040,669 (GRCm39)	missense	probably benign
R0376:Kif13b	UTSW	14	64,994,853 (GRCm39)	splice site	probably benign
R0571:Kif13b	UTSW	14	64,988,977 (GRCm39)	missense	probably damaging	1.00
R0718:Kif13b	UTSW	14	64,989,111 (GRCm39)	splice site	probably benign
R1144:Kif13b	UTSW	14	64,951,566 (GRCm39)	missense	probably benign	0.01
R1183:Kif13b	UTSW	14	65,019,826 (GRCm39)	missense	probably benign	0.00
R1264:Kif13b	UTSW	14	65,013,681 (GRCm39)	splice site	probably benign
R1497:Kif13b	UTSW	14	64,973,715 (GRCm39)	missense	probably damaging	0.99
R1579:Kif13b	UTSW	14	65,019,790 (GRCm39)	critical splice acceptor site	probably null
R1624:Kif13b	UTSW	14	64,976,068 (GRCm39)	missense	probably damaging	0.99
R1706:Kif13b	UTSW	14	64,998,115 (GRCm39)	splice site	probably benign
R2176:Kif13b	UTSW	14	64,907,120 (GRCm39)	missense	probably benign	0.01
R3785:Kif13b	UTSW	14	65,037,849 (GRCm39)	missense	probably benign	0.00
R3786:Kif13b	UTSW	14	65,037,849 (GRCm39)	missense	probably benign	0.00
R4088:Kif13b	UTSW	14	65,004,904 (GRCm39)	critical splice donor site	probably null
R4279:Kif13b	UTSW	14	65,016,805 (GRCm39)	missense	probably damaging	1.00
R4559:Kif13b	UTSW	14	65,043,581 (GRCm39)	missense	probably damaging	0.98
R4689:Kif13b	UTSW	14	65,010,513 (GRCm39)	missense	probably damaging	1.00
R4692:Kif13b	UTSW	14	65,041,024 (GRCm39)	missense	probably benign	0.05
R4878:Kif13b	UTSW	14	65,043,603 (GRCm39)	missense	probably benign	0.00
R4971:Kif13b	UTSW	14	64,995,011 (GRCm39)	missense	possibly damaging	0.90
R5037:Kif13b	UTSW	14	64,996,038 (GRCm39)	nonsense	probably null
R5119:Kif13b	UTSW	14	64,994,902 (GRCm39)	missense	probably benign	0.01
R5167:Kif13b	UTSW	14	65,010,384 (GRCm39)	missense	probably damaging	1.00
R5408:Kif13b	UTSW	14	65,017,138 (GRCm39)	critical splice acceptor site	probably null
R5437:Kif13b	UTSW	14	65,043,563 (GRCm39)	missense	probably damaging	0.99
R5756:Kif13b	UTSW	14	64,973,754 (GRCm39)	missense	probably damaging	1.00
R5838:Kif13b	UTSW	14	64,975,004 (GRCm39)	missense	probably damaging	1.00
R5891:Kif13b	UTSW	14	65,025,854 (GRCm39)	splice site	probably null
R6120:Kif13b	UTSW	14	64,989,007 (GRCm39)	missense	probably damaging	1.00
R6150:Kif13b	UTSW	14	64,989,088 (GRCm39)	missense	probably damaging	0.99
R6165:Kif13b	UTSW	14	64,979,760 (GRCm39)	missense	probably damaging	1.00
R6187:Kif13b	UTSW	14	64,973,664 (GRCm39)	missense	probably damaging	1.00
R6229:Kif13b	UTSW	14	64,976,016 (GRCm39)	missense	probably damaging	1.00
R6267:Kif13b	UTSW	14	64,976,083 (GRCm39)	missense	probably damaging	1.00
R6347:Kif13b	UTSW	14	65,005,068 (GRCm39)	missense	probably benign	0.26
R6479:Kif13b	UTSW	14	64,988,974 (GRCm39)	missense	probably benign	0.08
R6512:Kif13b	UTSW	14	64,982,323 (GRCm39)	critical splice acceptor site	probably null
R6851:Kif13b	UTSW	14	65,010,514 (GRCm39)	missense	probably damaging	1.00
R7131:Kif13b	UTSW	14	65,010,517 (GRCm39)	missense	probably damaging	1.00
R7217:Kif13b	UTSW	14	65,010,517 (GRCm39)	missense	probably damaging	1.00
R7398:Kif13b	UTSW	14	64,994,972 (GRCm39)	missense	probably null	0.02
R7427:Kif13b	UTSW	14	65,025,909 (GRCm39)	missense	probably benign
R7428:Kif13b	UTSW	14	65,025,909 (GRCm39)	missense	probably benign
R7573:Kif13b	UTSW	14	65,041,107 (GRCm39)	missense	probably benign	0.00
R7629:Kif13b	UTSW	14	65,016,784 (GRCm39)	nonsense	probably null
R7683:Kif13b	UTSW	14	64,994,956 (GRCm39)	missense	probably benign	0.24
R7835:Kif13b	UTSW	14	65,004,901 (GRCm39)	missense	probably benign	0.00
R7895:Kif13b	UTSW	14	64,973,598 (GRCm39)	missense	probably damaging	1.00
R8285:Kif13b	UTSW	14	65,019,825 (GRCm39)	missense	probably benign	0.03
R8374:Kif13b	UTSW	14	65,025,884 (GRCm39)	missense	probably damaging	0.97
R8467:Kif13b	UTSW	14	64,996,154 (GRCm39)	missense	probably damaging	0.96
R8804:Kif13b	UTSW	14	64,987,791 (GRCm39)	missense	probably damaging	0.99
R8859:Kif13b	UTSW	14	64,979,882 (GRCm39)	missense	probably benign	0.04
R8891:Kif13b	UTSW	14	64,982,326 (GRCm39)	missense	probably damaging	1.00
R9236:Kif13b	UTSW	14	64,982,383 (GRCm39)	missense	probably benign	0.22
R9446:Kif13b	UTSW	14	64,984,470 (GRCm39)	missense	probably damaging	1.00
R9589:Kif13b	UTSW	14	65,013,759 (GRCm39)	missense	possibly damaging	0.82
Z1176:Kif13b	UTSW	14	65,040,793 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAGCTCCAAGTCTTACCAGC -3'
(R):5'- TTGTCACAGGGTGTCCTAATCC -3'

Sequencing Primer
(F):5'- AAGTCTTACCAGCTTCGACATGGG -3'
(R):5'- ACAGGGTGTCCTAATCCTAGCC -3'

Posted On

2015-03-18