Mutagenetix > Incidental Mutation

Incidental Mutation 'R6347:Kif13b'

520072

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

044501-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64889633-65047067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65005068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1120 (T1120I)

Ref Sequence

ENSEMBL: ENSMUSP00000153168 (fasta)

Gene Model

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

AlphaFold

A0A286YCV9

Predicted Effect

probably benign
Transcript: ENSMUST00000100473
AA Change: T1120I

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: T1120I

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
AA Change: T1120I

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.6%
20x: 92.3%

Validation Efficiency

95% (41/43)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atat1	A	G	17: 36,220,921 (GRCm39)	F3L	probably damaging	Het
Atf7	T	A	15: 102,454,914 (GRCm39)	M285L	possibly damaging	Het
Bcl7b	T	C	5: 135,209,387 (GRCm39)	S95P	possibly damaging	Het
Cald1	A	C	6: 34,741,981 (GRCm39)	K453Q	probably damaging	Het
Cimip1	G	T	2: 173,369,708 (GRCm39)	R74L	possibly damaging	Het
Cog4	A	T	8: 111,607,275 (GRCm39)	I580F	probably damaging	Het
Cpq	T	A	15: 33,290,332 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,229,752 (GRCm39)	D440N	probably damaging	Het
Dst	A	G	1: 34,218,765 (GRCm39)		probably null	Het
Eif2b3	T	C	4: 116,901,763 (GRCm39)	V142A	probably benign	Het
Fat3	A	T	9: 15,909,668 (GRCm39)	N2111K	probably damaging	Het
Fbxo31	C	A	8: 122,305,198 (GRCm39)	E99D	possibly damaging	Het
Fgfr2	T	C	7: 129,863,487 (GRCm39)	E34G	probably damaging	Het
Flvcr2	T	C	12: 85,794,194 (GRCm39)	V190A	possibly damaging	Het
Herc2	T	C	7: 55,844,151 (GRCm39)		probably null	Het
Igkv3-2	A	C	6: 70,676,017 (GRCm39)	M109L	probably benign	Het
Il36rn	G	A	2: 24,169,726 (GRCm39)	A29T	probably damaging	Het
Kmt2c	A	G	5: 25,515,833 (GRCm39)	I2670T	possibly damaging	Het
Lcp2	A	G	11: 34,032,501 (GRCm39)	M360V	probably benign	Het
Ldlrad4	A	G	18: 68,368,851 (GRCm39)	S103G	probably benign	Het
Loxl4	T	C	19: 42,596,709 (GRCm39)	K88E	probably damaging	Het
Ltbp2	C	A	12: 84,900,686 (GRCm39)	R192L	probably damaging	Het
Mast2	C	A	4: 116,174,929 (GRCm39)	G475V	probably damaging	Het
Meis1	A	C	11: 18,855,631 (GRCm39)		probably null	Het
Mroh3	T	C	1: 136,128,675 (GRCm39)		probably null	Het
Myo5b	C	T	18: 74,903,456 (GRCm39)	A1824V	probably benign	Het
Nectin3	C	T	16: 46,278,487 (GRCm39)	V303M	probably benign	Het
Or5p52	T	C	7: 107,502,157 (GRCm39)	S78P	possibly damaging	Het
Peak1	T	C	9: 56,165,495 (GRCm39)	N811S	probably benign	Het
Pik3ca	C	T	3: 32,516,970 (GRCm39)	A1066V	probably benign	Het
Rnf103	A	G	6: 71,482,808 (GRCm39)	T153A	possibly damaging	Het
Sacs	G	A	14: 61,448,609 (GRCm39)	V3552I	probably damaging	Het
Sgca	A	T	11: 94,862,854 (GRCm39)	N109K	probably damaging	Het
Speg	T	A	1: 75,403,519 (GRCm39)	M2621K	probably benign	Het
Stfa2l1	T	C	16: 35,977,271 (GRCm39)	I22T	probably damaging	Het
Tbpl2	G	A	2: 23,984,715 (GRCm39)	P144L	probably benign	Het
Tmem219	T	C	7: 126,495,998 (GRCm39)	N119S	possibly damaging	Het
Ush2a	A	G	1: 188,643,084 (GRCm39)	T4149A	probably benign	Het
Wdr46	C	A	17: 34,160,826 (GRCm39)	P197T	probably damaging	Het
Wee2	C	T	6: 40,432,039 (GRCm39)	R203C	probably damaging	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
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'- CTTGGATCAACAACTGCAGAAG -3'
(R):5'- CACTGCAAAATACAAGTGGGAATC -3'

Sequencing Primer
(F):5'- CTGCAGAAGCTTGTCAGTAAAC -3'
(R):5'- AATCGAGGTGCCTGGTCATC -3'

Posted On

2018-06-06