Mutagenetix > Incidental Mutation

Incidental Mutation 'R4866:Katnb1'

374917

Institutional Source

Beutler Lab

Gene Symbol

Katnb1

Ensembl Gene

ENSMUSG00000031787

Gene Name

katanin p80 (WD40-containing) subunit B 1

Synonyms

KAT, 2410003J24Rik

MMRRC Submission

042476-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4866 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95807804-95826502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95824132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 471 (S471P)

Ref Sequence

ENSEMBL: ENSMUSP00000034239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034239] [ENSMUST00000034240] [ENSMUST00000169353] [ENSMUST00000169748] [ENSMUST00000212968] [ENSMUST00000213004]

AlphaFold

Q8BG40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034239
AA Change: S471P

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
AA Change: S471P

Domain	Start	End	E-Value	Type
WD40	9	49	2.61e-3	SMART
WD40	52	91	2.45e-8	SMART
WD40	94	133	3.58e-10	SMART
WD40	136	175	7.49e-13	SMART
WD40	178	217	5.14e-11	SMART
WD40	220	258	1.14e-3	SMART
low complexity region	354	373	N/A	INTRINSIC
low complexity region	396	412	N/A	INTRINSIC
Pfam:Katanin_con80	496	654	8.2e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034240

SMART Domains

Protein: ENSMUSP00000034240
Gene: ENSMUSG00000031788

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
coiled coil region	100	360	N/A	INTRINSIC
coiled coil region	393	430	N/A	INTRINSIC
KISc	441	774	3.15e-158	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169353

SMART Domains

Protein: ENSMUSP00000127427
Gene: ENSMUSG00000031788

Domain	Start	End	E-Value	Type
coiled coil region	33	223	N/A	INTRINSIC
coiled coil region	256	293	N/A	INTRINSIC
KISc	304	637	3.15e-158	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169748

SMART Domains

Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788

Domain	Start	End	E-Value	Type
coiled coil region	34	324	N/A	INTRINSIC
coiled coil region	357	394	N/A	INTRINSIC
KISc	405	728	3.11e-148	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212656

Predicted Effect

probably benign
Transcript: ENSMUST00000212968

Predicted Effect

probably benign
Transcript: ENSMUST00000213004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212895

Meta Mutation Damage Score

0.0915

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice exhibit embryonic lethality, small embryo, brain and limb bud size, variable eye defects, holoprosencephaly, and thin cerebral cortex with fewer cortical progenitors and post-mitotic neurons. Mutant MEFs form multiple centrioles, multipolar spindles, and supernumerary primary cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abcc5	A	T	16: 20,241,182 (GRCm39)	M1K	probably null	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Apoa2	T	C	1: 171,053,369 (GRCm39)		probably null	Het
Atad1	A	T	19: 32,679,964 (GRCm39)	H79Q	probably benign	Het
Atp8a2	T	C	14: 59,928,916 (GRCm39)	D1046G	probably damaging	Het
Bcam	A	G	7: 19,499,397 (GRCm39)	Y209H	probably benign	Het
Brpf1	G	A	6: 113,299,431 (GRCm39)	V1120I	probably damaging	Het
Catsperb	G	A	12: 101,474,208 (GRCm39)	C302Y	probably damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Ccdc60	T	C	5: 116,310,549 (GRCm39)	D171G	probably damaging	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdan1	C	A	2: 120,561,928 (GRCm39)		probably benign	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfap410	T	A	10: 77,817,413 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,964,716 (GRCm39)	D479G	probably damaging	Het
Cmbl	A	G	15: 31,585,490 (GRCm39)	K113E	probably benign	Het
Cog6	G	A	3: 52,918,019 (GRCm39)	T173I	probably benign	Het
Cts6	T	A	13: 61,350,090 (GRCm39)		probably null	Het
Cyp11a1	G	A	9: 57,933,380 (GRCm39)	V413M	probably damaging	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Dclre1b	A	T	3: 103,715,412 (GRCm39)	Y29N	probably damaging	Het
Depdc1a	T	A	3: 159,221,764 (GRCm39)	I236K	probably damaging	Het
Dhx36	A	T	3: 62,380,198 (GRCm39)	Y833N	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Elovl3	A	G	19: 46,120,603 (GRCm39)	E32G	possibly damaging	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Fcrl2	A	T	3: 87,170,773 (GRCm39)	C4S	possibly damaging	Het
Galnt16	T	C	12: 80,630,851 (GRCm39)	Y310H	probably damaging	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gspt1	C	T	16: 11,040,529 (GRCm39)	R593H	possibly damaging	Het
Hmcn2	A	T	2: 31,279,403 (GRCm39)	T1802S	possibly damaging	Het
Igha	A	G	12: 113,223,129 (GRCm39)	V166A	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Kazn	A	G	4: 141,832,216 (GRCm39)	F661S	unknown	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Lgr5	C	T	10: 115,288,590 (GRCm39)	V661I	probably benign	Het
Lvrn	G	T	18: 47,026,768 (GRCm39)	A789S	probably damaging	Het
Mapk10	T	C	5: 103,111,391 (GRCm39)	D351G	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mios	T	G	6: 8,214,857 (GRCm39)	F18V	probably damaging	Het
Mllt6	A	G	11: 97,565,285 (GRCm39)	D575G	probably damaging	Het
Mmp10	G	A	9: 7,508,190 (GRCm39)	V439M	probably damaging	Het
Myh4	A	G	11: 67,139,453 (GRCm39)	D590G	probably benign	Het
Ndufs2	C	T	1: 171,074,618 (GRCm39)	G14R	probably benign	Het
Or10ad1b	T	A	15: 98,125,371 (GRCm39)	I52F	probably damaging	Het
Or51a7	A	T	7: 102,614,927 (GRCm39)	M207L	probably benign	Het
Or56a4	T	C	7: 104,806,514 (GRCm39)	Y125C	possibly damaging	Het
Or8g26	A	G	9: 39,096,367 (GRCm39)	K298E	probably damaging	Het
Plau	G	T	14: 20,887,872 (GRCm39)	V39L	probably benign	Het
Ppp3cb	A	G	14: 20,573,911 (GRCm39)	C275R	probably damaging	Het
Ppp4r4	T	G	12: 103,566,706 (GRCm39)	M51R	possibly damaging	Het
Prr5	A	G	15: 84,626,105 (GRCm39)	Y60C	probably damaging	Het
Ptprt	T	C	2: 161,402,159 (GRCm39)	D1023G	probably damaging	Het
Raly	T	A	2: 154,703,816 (GRCm39)	V129E	probably damaging	Het
Rsph10b	A	G	5: 143,885,347 (GRCm39)	E249G	probably benign	Het
Sart1	A	C	19: 5,432,248 (GRCm39)	L577W	probably damaging	Het
Senp1	T	C	15: 97,964,729 (GRCm39)	E189G	possibly damaging	Het
Slc22a2	G	T	17: 12,803,316 (GRCm39)	C50F	probably damaging	Het
Spem1	A	T	11: 69,711,755 (GRCm39)	V303E	probably damaging	Het
Tgfb3	A	G	12: 86,124,588 (GRCm39)	V40A	possibly damaging	Het
Ttl	T	C	2: 128,923,147 (GRCm39)	S163P	probably damaging	Het
Ttll9	C	A	2: 152,844,920 (GRCm39)	N429K	probably benign	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Zfhx2	A	G	14: 55,302,993 (GRCm39)	S1664P	possibly damaging	Het
Zfp51	T	A	17: 21,682,012 (GRCm39)	D70E	possibly damaging	Het
Zfp592	T	A	7: 80,691,607 (GRCm39)	V1262E	probably damaging	Het
Zfp595	C	A	13: 67,465,760 (GRCm39)	G168C	probably damaging	Het
Zswim9	A	T	7: 12,995,095 (GRCm39)	S354T	probably damaging	Het

Other mutations in Katnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01563:Katnb1	APN	8	95,824,787 (GRCm39)	missense	probably damaging	1.00
IGL02263:Katnb1	APN	8	95,816,703 (GRCm39)	missense	probably damaging	1.00
IGL02896:Katnb1	APN	8	95,822,656 (GRCm39)	unclassified	probably benign
H8562:Katnb1	UTSW	8	95,822,138 (GRCm39)	unclassified	probably benign
R0139:Katnb1	UTSW	8	95,825,050 (GRCm39)	missense	possibly damaging	0.90
R0418:Katnb1	UTSW	8	95,822,286 (GRCm39)	missense	possibly damaging	0.92
R0503:Katnb1	UTSW	8	95,821,802 (GRCm39)	missense	probably damaging	0.96
R1405:Katnb1	UTSW	8	95,824,801 (GRCm39)	missense	probably damaging	1.00
R1405:Katnb1	UTSW	8	95,824,801 (GRCm39)	missense	probably damaging	1.00
R3960:Katnb1	UTSW	8	95,813,925 (GRCm39)	missense	possibly damaging	0.48
R4930:Katnb1	UTSW	8	95,823,922 (GRCm39)	splice site	probably null
R5160:Katnb1	UTSW	8	95,822,098 (GRCm39)	missense	probably benign	0.01
R5184:Katnb1	UTSW	8	95,824,608 (GRCm39)	missense	possibly damaging	0.80
R5333:Katnb1	UTSW	8	95,822,234 (GRCm39)	missense	possibly damaging	0.95
R5529:Katnb1	UTSW	8	95,824,300 (GRCm39)	missense	probably damaging	0.99
R5848:Katnb1	UTSW	8	95,825,340 (GRCm39)	missense	probably benign	0.09
R6424:Katnb1	UTSW	8	95,820,144 (GRCm39)	missense	probably damaging	1.00
R6478:Katnb1	UTSW	8	95,822,084 (GRCm39)	missense	possibly damaging	0.57
R6785:Katnb1	UTSW	8	95,822,270 (GRCm39)	missense	probably benign	0.04
R7009:Katnb1	UTSW	8	95,825,012 (GRCm39)	missense	probably damaging	0.99
R7174:Katnb1	UTSW	8	95,824,069 (GRCm39)	missense	probably benign	0.00
R7253:Katnb1	UTSW	8	95,822,125 (GRCm39)	nonsense	probably null
R7486:Katnb1	UTSW	8	95,825,357 (GRCm39)	missense	probably damaging	1.00
R7718:Katnb1	UTSW	8	95,821,836 (GRCm39)	missense	possibly damaging	0.78
R7996:Katnb1	UTSW	8	95,824,643 (GRCm39)	missense	possibly damaging	0.95
R8108:Katnb1	UTSW	8	95,820,573 (GRCm39)	missense	possibly damaging	0.94
R8163:Katnb1	UTSW	8	95,823,014 (GRCm39)	missense	probably damaging	1.00
R8353:Katnb1	UTSW	8	95,822,072 (GRCm39)	missense	probably damaging	1.00
R8963:Katnb1	UTSW	8	95,809,519 (GRCm39)	missense	probably damaging	0.99
R8971:Katnb1	UTSW	8	95,822,987 (GRCm39)	missense	probably damaging	1.00
R9137:Katnb1	UTSW	8	95,824,320 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GGTGCCAAATGTACGTCTGAG -3'
(R):5'- CTTTGCGTATCTGCGACATG -3'

Sequencing Primer
(F):5'- CCAAATGTACGTCTGAGCAGAG -3'
(R):5'- CGTATCTGCGACATGGCATC -3'

Posted On

2016-03-17