Mutagenetix > Incidental Mutation

Incidental Mutation 'R0139:Katnb1'

22186

Institutional Source

Beutler Lab

Gene Symbol

Katnb1

Ensembl Gene

ENSMUSG00000031787

Gene Name

katanin p80 (WD40-containing) subunit B 1

Synonyms

KAT, 2410003J24Rik

MMRRC Submission

038424-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0139 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

95807804-95826502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95825050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 611 (S611G)

Ref Sequence

ENSEMBL: ENSMUSP00000034239 (fasta)

Gene Model

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

AlphaFold

Q8BG40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034239
AA Change: S611G

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
AA Change: S611G

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: ENSMUST00000211854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212895

Predicted Effect

probably benign
Transcript: ENSMUST00000213004

Predicted Effect

probably benign
Transcript: ENSMUST00000212968

Meta Mutation Damage Score

0.0922

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.2%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	C	T	8: 12,329,899 (GRCm39)	S118L	unknown	Het
Adprs	A	G	4: 126,211,947 (GRCm39)	Y122H	probably damaging	Het
Ankrd52	T	C	10: 128,222,007 (GRCm39)	S544P	probably benign	Het
Aopep	A	G	13: 63,338,298 (GRCm39)	N558S	probably benign	Het
Arhgef7	A	G	8: 11,850,503 (GRCm39)	E111G	probably damaging	Het
Atp11a	A	G	8: 12,896,054 (GRCm39)	M755V	probably benign	Het
Atp2a2	A	G	5: 122,629,778 (GRCm39)	I97T	probably damaging	Het
Bmp3	G	A	5: 99,027,768 (GRCm39)	D463N	possibly damaging	Het
Cacna2d4	T	C	6: 119,255,230 (GRCm39)		probably benign	Het
Ccdc28a	G	A	10: 18,106,188 (GRCm39)	S46F	possibly damaging	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Cenpw	T	G	10: 30,076,455 (GRCm39)	T8P	probably benign	Het
Cfap44	G	C	16: 44,253,785 (GRCm39)	G893R	possibly damaging	Het
Cimap3	A	T	3: 105,906,886 (GRCm39)	M171K	possibly damaging	Het
Cops7a	A	T	6: 124,938,323 (GRCm39)	C110S	probably damaging	Het
Cstl1	A	G	2: 148,597,245 (GRCm39)	N134S	probably damaging	Het
Cyp2s1	G	T	7: 25,511,114 (GRCm39)		probably null	Het
Dio2	T	A	12: 90,696,617 (GRCm39)	N124Y	probably damaging	Het
Ecel1	C	A	1: 87,082,248 (GRCm39)	G155V	possibly damaging	Het
Efr3a	G	T	15: 65,717,830 (GRCm39)	V337F	possibly damaging	Het
Eva1b	A	C	4: 126,043,446 (GRCm39)	H162P	probably damaging	Het
Exoc5	C	T	14: 49,273,493 (GRCm39)	E301K	probably damaging	Het
F13b	G	A	1: 139,435,941 (GRCm39)	S249N	probably damaging	Het
Fam120b	C	T	17: 15,646,446 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,250,231 (GRCm39)	L396S	probably damaging	Het
Gck	T	A	11: 5,859,139 (GRCm39)	K143*	probably null	Het
Gck	C	A	11: 5,860,370 (GRCm39)	V91L	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gm4884	T	C	7: 40,692,387 (GRCm39)	F119L	probably benign	Het
Igsf11	T	C	16: 38,829,240 (GRCm39)	S45P	probably damaging	Het
Iho1	T	C	9: 108,289,695 (GRCm39)	T176A	probably damaging	Het
Il10	G	A	1: 130,950,271 (GRCm39)	V142M	probably damaging	Het
Insc	A	T	7: 114,368,237 (GRCm39)	H9L	probably damaging	Het
Iqsec1	G	T	6: 90,786,740 (GRCm39)		probably benign	Het
Kcnb1	A	G	2: 166,947,459 (GRCm39)	I463T	possibly damaging	Het
Lao1	A	G	4: 118,821,399 (GRCm39)	N90S	probably benign	Het
Med16	T	A	10: 79,732,635 (GRCm39)	M710L	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mtus1	G	A	8: 41,469,233 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,950,682 (GRCm39)		probably benign	Het
Ndor1	C	T	2: 25,138,366 (GRCm39)	V405M	possibly damaging	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nme8	T	C	13: 19,862,018 (GRCm39)	I204V	probably benign	Het
Nup133	A	T	8: 124,656,082 (GRCm39)	N466K	probably benign	Het
Nxt1	A	G	2: 148,517,390 (GRCm39)	T44A	probably benign	Het
Or14c46	T	C	7: 85,918,187 (GRCm39)	E270G	probably benign	Het
Or2ag15	A	T	7: 106,340,832 (GRCm39)	I103N	probably benign	Het
Or2y12	C	T	11: 49,426,401 (GRCm39)	L130F	probably benign	Het
Or4e1	T	C	14: 52,700,669 (GRCm39)	T239A	probably damaging	Het
Or4f7	A	T	2: 111,644,699 (GRCm39)	I124K	possibly damaging	Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pced1a	T	C	2: 130,263,827 (GRCm39)	K275R	probably benign	Het
Pdcd11	A	G	19: 47,099,398 (GRCm39)		probably null	Het
Phldb2	A	C	16: 45,591,029 (GRCm39)		probably benign	Het
Piwil1	C	A	5: 128,824,387 (GRCm39)	S490Y	probably damaging	Het
Plekhh3	T	C	11: 101,054,501 (GRCm39)		probably benign	Het
Ppargc1b	A	T	18: 61,449,034 (GRCm39)		probably benign	Het
Psg19	C	T	7: 18,530,942 (GRCm39)	V71I	possibly damaging	Het
Ptk6	T	C	2: 180,838,724 (GRCm39)		probably benign	Het
Pus7	A	G	5: 23,983,090 (GRCm39)	S126P	probably damaging	Het
Rab6b	T	A	9: 103,017,576 (GRCm39)		probably null	Het
Ranbp3	G	A	17: 57,016,272 (GRCm39)	R347Q	possibly damaging	Het
Sanbr	A	T	11: 23,570,214 (GRCm39)		probably benign	Het
Sbf1	A	T	15: 89,186,701 (GRCm39)	L866Q	probably damaging	Het
Slc25a34	A	G	4: 141,349,663 (GRCm39)	V164A	possibly damaging	Het
Smg1	A	G	7: 117,751,898 (GRCm39)		probably null	Het
Spin1	G	T	13: 51,303,048 (GRCm39)	V214L	probably benign	Het
Spmip2	A	T	3: 79,313,142 (GRCm39)	Y72F	probably damaging	Het
Sptbn1	T	C	11: 30,092,289 (GRCm39)	N492S	probably benign	Het
Stk-ps2	A	G	1: 46,068,955 (GRCm39)		noncoding transcript	Het
Taar7f	T	C	10: 23,926,312 (GRCm39)	I302T	probably benign	Het
Tdrd1	C	A	19: 56,831,630 (GRCm39)	H340Q	probably benign	Het
Thumpd3	A	G	6: 113,044,762 (GRCm39)	D498G	probably benign	Het
Tpgs2	A	G	18: 25,282,242 (GRCm39)	L103P	probably damaging	Het
Trip10	A	G	17: 57,568,633 (GRCm39)		probably null	Het
Trip6	A	T	5: 137,310,436 (GRCm39)	H269Q	probably benign	Het
Trmt12	T	C	15: 58,744,743 (GRCm39)	V47A	possibly damaging	Het
Trpm7	A	T	2: 126,654,691 (GRCm39)	S1416T	probably benign	Het
Tsks	G	A	7: 44,603,883 (GRCm39)	A438T	probably benign	Het
Ttn	T	C	2: 76,727,630 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,155 (GRCm39)	V136M	possibly damaging	Het
Uty	A	C	Y: 1,197,223 (GRCm39)	Y115D	probably damaging	Het
Vcan	A	G	13: 89,839,380 (GRCm39)	S2055P	probably damaging	Het
Yes1	A	G	5: 32,842,039 (GRCm39)	Q521R	possibly damaging	Het
Zfp114	A	T	7: 23,880,685 (GRCm39)	T344S	possibly damaging	Het
Zfp661	A	T	2: 127,420,532 (GRCm39)	V89D	possibly damaging	Het
Zfp91	A	T	19: 12,747,834 (GRCm39)	Y430N	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
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
R4866:Katnb1	UTSW	8	95,824,132 (GRCm39)	missense	possibly damaging	0.78
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'- TGCCCATCTGTGAAAGATCCCTCTC -3'
(R):5'- ACTCAAACCCGACTTGCTCTTGAC -3'

Sequencing Primer
(F):5'- GTGAAAGATCCCTCTCTTTTGTC -3'
(R):5'- TCTTGACGAGGCCACTGATG -3'

Posted On

2013-04-16