Mutagenetix > Incidental Mutation

Incidental Mutation 'R7217:Kif13b'

561552

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

045289-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7217 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

64889633-65047067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65010517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1272 (V1272A)

Ref Sequence

ENSEMBL: ENSMUSP00000098041 (fasta)

Gene Model

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

AlphaFold

A0A286YCV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000100473
AA Change: V1272A

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

SMART Domains

Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: V1272A

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: V1272A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

91% (40/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	C	A	5: 138,645,188 (GRCm39)	H358N	probably benign	Het
Abcg3	A	G	5: 105,087,094 (GRCm39)	F543L	possibly damaging	Het
Asnsd1	T	C	1: 53,387,352 (GRCm39)	T92A	probably damaging	Het
Atg2a	G	T	19: 6,303,471 (GRCm39)		probably null	Het
Aven	T	A	2: 112,461,191 (GRCm39)	N327K	possibly damaging	Het
Brd9	T	C	13: 74,087,063 (GRCm39)	V116A	probably damaging	Het
Car14	A	G	3: 95,806,629 (GRCm39)	S250P	probably damaging	Het
Ccdc138	T	C	10: 58,345,422 (GRCm39)	I138T	probably benign	Het
Cmya5	A	G	13: 93,226,938 (GRCm39)	Y2717H	probably damaging	Het
Eno1b	C	A	18: 48,180,746 (GRCm39)	T308K	probably damaging	Het
Epha3	T	C	16: 63,372,857 (GRCm39)	T949A	probably benign	Het
Fcrl5	C	T	3: 87,351,081 (GRCm39)	T197M	probably damaging	Het
Foxp2	A	T	6: 15,416,023 (GRCm39)	Q664L	unknown	Het
Fsip2	A	T	2: 82,819,412 (GRCm39)	K5048N	possibly damaging	Het
Gcnt4	T	C	13: 97,082,818 (GRCm39)	L38P	probably damaging	Het
Gpr68	A	G	12: 100,845,058 (GRCm39)	V162A	possibly damaging	Het
Grin3a	A	T	4: 49,770,741 (GRCm39)	M677K	possibly damaging	Het
Grm7	A	G	6: 111,335,785 (GRCm39)	Y732C	probably damaging	Het
H2-T15	A	C	17: 36,367,235 (GRCm39)	M329R	probably benign	Het
Hoxb4	A	G	11: 96,209,906 (GRCm39)	E104G	probably benign	Het
Kat7	A	G	11: 95,182,390 (GRCm39)	S237P	possibly damaging	Het
Kif20a	T	A	18: 34,762,613 (GRCm39)	H495Q	probably benign	Het
Lama1	A	T	17: 68,071,668 (GRCm39)	T852S		Het
Mep1b	T	A	18: 21,226,600 (GRCm39)	D487E	probably benign	Het
Mki67	T	C	7: 135,305,911 (GRCm39)	T656A	probably damaging	Het
Mlh3	A	G	12: 85,313,481 (GRCm39)	W902R	probably benign	Het
Muc16	A	T	9: 18,555,372 (GRCm39)	Y3640*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Pkd1l2	A	G	8: 117,722,536 (GRCm39)	I2424T	probably benign	Het
Prl8a2	A	G	13: 27,534,998 (GRCm39)	E91G	possibly damaging	Het
Prpf18	A	G	2: 4,650,435 (GRCm39)	V65A	probably benign	Het
Pxmp2	A	G	5: 110,433,771 (GRCm39)	V34A	probably damaging	Het
Ranbp2	T	G	10: 58,287,839 (GRCm39)	Y36D	probably damaging	Het
Rbm25	G	A	12: 83,710,991 (GRCm39)	R368Q	unknown	Het
Rims2	C	A	15: 39,339,885 (GRCm39)	L860M	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,868,108 (GRCm39)	M318L	probably benign	Het
Slc35b2	A	G	17: 45,875,955 (GRCm39)	T55A	probably benign	Het
Trnp1	T	C	4: 133,225,416 (GRCm39)	E118G	possibly damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Wdfy3	A	T	5: 102,049,785 (GRCm39)	H1680Q	probably damaging	Het
Zfp131	A	G	13: 120,237,377 (GRCm39)	I327T	probably damaging	Het
Zfp729b	A	G	13: 67,743,367 (GRCm39)	V66A	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
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
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'- GGAGCCTTCACATGGAGAAG -3'
(R):5'- GAGCAAAGCCACTGGACTTC -3'

Sequencing Primer
(F):5'- AAGTGAAGTGCTGCCTTACC -3'
(R):5'- ACTGGACTTCCCCATGGCAG -3'

Posted On

2019-06-26