Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02388:Kif13b'

291635

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif13b

Ensembl Gene

ENSMUSG00000060012

Gene Name

kinesin family member 13B

Synonyms

C130021D12Rik, 5330429L19Rik, N-3 kinesin, GAKIN

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02388

Quality Score

Status

Chromosome

Chromosomal Location

64889633-65047067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65037807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1491 (I1491T)

Ref Sequence

ENSEMBL: ENSMUSP00000153168 (fasta)

Gene Model

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

AlphaFold

A0A286YCV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000100473
AA Change: I1491T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: I1491T

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 damaging
Transcript: ENSMUST00000224503
AA Change: I1491T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224677

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930597O21Rik	A	T	6: 66,873,097 (GRCm39)		probably benign	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Asphd1	A	T	7: 126,545,884 (GRCm39)		probably benign	Het
Ccdc77	G	A	6: 120,308,858 (GRCm39)	A301V	probably benign	Het
Cep350	G	T	1: 155,829,499 (GRCm39)	T135K	probably benign	Het
Chrna7	A	T	7: 62,757,439 (GRCm39)	D153E	probably damaging	Het
Clec4b2	G	T	6: 123,179,187 (GRCm39)		probably null	Het
Cyp2c67	T	C	19: 39,631,799 (GRCm39)	N133D	probably benign	Het
Dglucy	T	C	12: 100,823,257 (GRCm39)	I484T	probably damaging	Het
Dtna	G	T	18: 23,730,571 (GRCm39)	M319I	probably benign	Het
E2f5	T	A	3: 14,653,340 (GRCm39)	M152K	probably benign	Het
Emsy	A	T	7: 98,290,873 (GRCm39)	M58K	probably damaging	Het
Epha1	A	G	6: 42,341,950 (GRCm39)	Y367H	probably damaging	Het
Etv1	A	G	12: 38,831,798 (GRCm39)	S32G	possibly damaging	Het
Fam114a1	A	T	5: 65,166,323 (GRCm39)		probably benign	Het
Fbxo30	T	A	10: 11,166,122 (GRCm39)	N281K	probably benign	Het
Galnt12	G	T	4: 47,117,941 (GRCm39)	R412L	probably damaging	Het
Gm5786	T	A	12: 59,128,382 (GRCm39)		noncoding transcript	Het
Gm9845	T	C	3: 39,412,616 (GRCm39)		noncoding transcript	Het
Hecw2	A	G	1: 53,964,858 (GRCm39)	V656A	probably benign	Het
Hpse2	A	T	19: 43,282,692 (GRCm39)	V187D	probably damaging	Het
Itsn2	T	A	12: 4,679,557 (GRCm39)	M122K	possibly damaging	Het
Kcnj11	A	G	7: 45,749,213 (GRCm39)	S37P	probably benign	Het
Krt36	T	A	11: 99,995,990 (GRCm39)	K145*	probably null	Het
Loxhd1	A	G	18: 77,456,833 (GRCm39)	I499V	probably benign	Het
Map3k4	G	T	17: 12,490,497 (GRCm39)	N311K	probably damaging	Het
Mical2	C	A	7: 111,934,620 (GRCm39)	H880N	probably benign	Het
Myo1d	A	T	11: 80,528,823 (GRCm39)	C666*	probably null	Het
Nlrx1	C	T	9: 44,175,302 (GRCm39)	R158H	probably benign	Het
Or10ag53	T	A	2: 87,082,295 (GRCm39)	Y5N	probably benign	Het
Or10q1	C	A	19: 13,726,994 (GRCm39)	H175N	possibly damaging	Het
Or13a17	A	G	7: 140,271,024 (GRCm39)	T69A	probably benign	Het
Or1e21	A	T	11: 73,344,106 (GRCm39)	L311I	probably benign	Het
Or4a78	T	C	2: 89,497,316 (GRCm39)	S305G	probably benign	Het
Pdgfrl	A	G	8: 41,430,094 (GRCm39)	R154G	probably benign	Het
Pitpnb	T	C	5: 111,478,699 (GRCm39)	F7S	possibly damaging	Het
Ppm1n	G	A	7: 19,013,097 (GRCm39)	R285C	probably damaging	Het
Prdm11	A	T	2: 92,805,957 (GRCm39)	I331N	possibly damaging	Het
Ptprb	C	T	10: 116,203,426 (GRCm39)	P2066L	probably damaging	Het
Ric8b	T	C	10: 84,828,135 (GRCm39)		probably benign	Het
Setx	A	G	2: 29,063,665 (GRCm39)	I2320M	probably damaging	Het
Skil	C	A	3: 31,165,787 (GRCm39)	S368*	probably null	Het
Slc1a5	G	T	7: 16,519,644 (GRCm39)		probably null	Het
Trpm7	A	C	2: 126,661,811 (GRCm39)	V1079G	possibly damaging	Het
Tulp1	A	G	17: 28,577,633 (GRCm39)	F2L	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Zbtb17	A	G	4: 141,189,224 (GRCm39)	Y48C	probably damaging	Het
Zfp605	T	A	5: 110,275,506 (GRCm39)	I208N	possibly 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
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
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

Posted On

2015-04-16