Mutagenetix > Incidental Mutation

Incidental Mutation 'R5167:Kif13b'

397364

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

042747-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64889633-65047067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65010384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1228 (S1228P)

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: S1228P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: S1228P

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: S1228P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.2029

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (38/39)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,862,656 (GRCm39)	Y113N	probably damaging	Het
Bcan	G	T	3: 87,901,514 (GRCm39)	S396Y	probably damaging	Het
Calm3	T	C	7: 16,651,626 (GRCm39)	D21G	probably damaging	Het
Cldn23	C	T	8: 36,293,474 (GRCm39)	V5M	possibly damaging	Het
D630003M21Rik	A	G	2: 158,047,665 (GRCm39)	S735P	probably damaging	Het
Dscaml1	T	C	9: 45,628,730 (GRCm39)	Y1095H	probably damaging	Het
Esr2	T	C	12: 76,170,048 (GRCm39)	T427A	probably benign	Het
Fbxo28	T	C	1: 182,145,558 (GRCm39)	I177V	possibly damaging	Het
Fubp1	T	C	3: 151,926,989 (GRCm39)	L372P	possibly damaging	Het
Glis1	G	A	4: 107,491,891 (GRCm39)	G585E	probably damaging	Het
Gm7258	T	C	7: 128,197,791 (GRCm39)		noncoding transcript	Het
Hecw1	C	T	13: 14,460,242 (GRCm39)	R613Q	probably damaging	Het
Knl1	A	G	2: 118,900,512 (GRCm39)	I738V	probably damaging	Het
Lig1	T	A	7: 13,044,983 (GRCm39)	V892D	probably damaging	Het
Lvrn	T	A	18: 47,013,814 (GRCm39)	Y499N	probably damaging	Het
Ly9	C	A	1: 171,432,773 (GRCm39)	W80L	probably damaging	Het
Lypd5	T	C	7: 24,051,889 (GRCm39)	V68A	possibly damaging	Het
Ngdn	C	T	14: 55,259,656 (GRCm39)	Q236*	probably null	Het
Nudt7	C	A	8: 114,878,567 (GRCm39)	C154*	probably null	Het
Obi1	A	G	14: 104,716,223 (GRCm39)	S717P	probably damaging	Het
Or14j10	C	A	17: 37,934,642 (GRCm39)	E295*	probably null	Het
Or4f14b	A	T	2: 111,775,447 (GRCm39)	M118K	probably damaging	Het
Or5b117	T	A	19: 13,431,741 (GRCm39)	I47F	probably damaging	Het
Paxbp1	A	G	16: 90,819,555 (GRCm39)		probably null	Het
Pcnt	G	T	10: 76,256,258 (GRCm39)	Q661K	probably damaging	Het
Plekha1	G	A	7: 130,487,179 (GRCm39)		probably null	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Rac3	A	G	11: 120,613,421 (GRCm39)	D58G	probably null	Het
Rgl2	C	T	17: 34,154,948 (GRCm39)	R203*	probably null	Het
Ryr1	T	C	7: 28,767,118 (GRCm39)	D2948G	probably damaging	Het
Serpina12	A	T	12: 104,004,179 (GRCm39)	L151Q	probably damaging	Het
Sf3a1	T	C	11: 4,127,456 (GRCm39)	V594A	possibly damaging	Het
Spdl1	G	T	11: 34,704,187 (GRCm39)	H549N	possibly damaging	Het
Srp68	C	A	11: 116,156,300 (GRCm39)	E147D	probably damaging	Het
Zfp352	A	G	4: 90,112,453 (GRCm39)	T198A	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
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
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'- CAGTGTATGAGCACATAAGTATCAGC -3'
(R):5'- AGGCTCAGGGTTCCATAGAG -3'

Sequencing Primer
(F):5'- TAAGTATCAGCACAGGTACCATG -3'
(R):5'- GCACGTCTGGAAAGAACTTTC -3'

Posted On

2016-07-06