Mutagenetix > Incidental Mutation

Incidental Mutation 'R8285:Kif13b'

638434

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

067653-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8285 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64889633-65047067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65019825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1398 (H1398R)

Ref Sequence

ENSEMBL: ENSMUSP00000098041 (fasta)

Gene Model

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

AlphaFold

A0A286YCV9

Predicted Effect

probably benign
Transcript: ENSMUST00000100473
AA Change: H1398R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: H1398R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	A	G	10: 88,904,079 (GRCm39)	I206T	probably damaging	Het
Atp5pf	A	G	16: 84,625,390 (GRCm39)	L71P	probably damaging	Het
Bcar3	A	T	3: 122,306,383 (GRCm39)	I468F	probably benign	Het
Ddi1	T	A	9: 6,265,808 (GRCm39)	Q187L	probably benign	Het
Dgkh	T	C	14: 78,865,566 (GRCm39)	N139D	probably benign	Het
Fan1	A	T	7: 64,016,348 (GRCm39)	I592N	probably damaging	Het
Fchsd2	T	C	7: 100,883,128 (GRCm39)	F252S	possibly damaging	Het
Gad2	T	A	2: 22,514,940 (GRCm39)	N139K	probably benign	Het
Gm12695	G	A	4: 96,657,990 (GRCm39)	R60W	possibly damaging	Het
Gucy1b2	A	G	14: 62,657,556 (GRCm39)	V224A	probably damaging	Het
Hspg2	A	G	4: 137,239,974 (GRCm39)	D514G	probably benign	Het
Igsf23	T	C	7: 19,675,881 (GRCm39)	D113G	possibly damaging	Het
Inhbc	T	C	10: 127,206,010 (GRCm39)	T86A	probably benign	Het
Itga11	T	C	9: 62,659,540 (GRCm39)	S431P	probably damaging	Het
Lce1f	T	C	3: 92,626,238 (GRCm39)	S140G	unknown	Het
Mapt	T	A	11: 104,189,628 (GRCm39)	D215E	probably benign	Het
Maz	T	C	7: 126,624,644 (GRCm39)	Y292C	possibly damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mpo	A	G	11: 87,688,393 (GRCm39)	M351V	probably benign	Het
Muc16	G	A	9: 18,554,273 (GRCm39)	P4007S	unknown	Het
Or4k47	A	T	2: 111,452,390 (GRCm39)	S10T	probably benign	Het
Or5h26	G	A	16: 58,988,176 (GRCm39)	T110I	probably benign	Het
Or5t9	T	C	2: 86,659,443 (GRCm39)	F116L	probably benign	Het
Ppp3ca	A	G	3: 136,587,205 (GRCm39)	D229G	probably damaging	Het
Pramel25	T	A	4: 143,520,636 (GRCm39)	D293E	probably benign	Het
Rab39	A	T	9: 53,617,231 (GRCm39)	I62N	probably damaging	Het
Rgs6	A	G	12: 83,162,949 (GRCm39)	E385G	probably benign	Het
Scaf8	T	C	17: 3,227,404 (GRCm39)	S340P	unknown	Het
Scpep1	A	G	11: 88,843,293 (GRCm39)	L55P	probably damaging	Het
Sorbs2	T	C	8: 46,249,104 (GRCm39)	L785P	probably damaging	Het
Supt16	A	T	14: 52,418,540 (GRCm39)	V239E	possibly damaging	Het
Usf3	T	C	16: 44,041,207 (GRCm39)	S1896P	probably damaging	Het
Xrcc1	G	A	7: 24,271,703 (GRCm39)	R562H	probably damaging	Het
Zfhx4	C	T	3: 5,466,916 (GRCm39)	T2383I	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
R3727:Kif13b	UTSW	14	65,003,197 (GRCm39)	splice site	probably benign
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
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'- GACTCACTAATCTGCAGTATTGGTC -3'
(R):5'- TTAGTGGACCTCAACGGCAG -3'

Sequencing Primer
(F):5'- ACTGTCTCTCTGACTGGGAAAC -3'
(R):5'- GACCTCAACGGCAGGATCAG -3'

Posted On

2020-07-28