Mutagenetix > Incidental Mutation

Incidental Mutation 'R8971:Katnb1'

683104

Institutional Source

Beutler Lab

Gene Symbol

Katnb1

Ensembl Gene

ENSMUSG00000031787

Gene Name

katanin p80 (WD40-containing) subunit B 1

Synonyms

KAT, 2410003J24Rik

MMRRC Submission

068805-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8971 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95807804-95826502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95822987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 394 (R394Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034239 (fasta)

Gene Model

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

AlphaFold

Q8BG40

Predicted Effect

probably damaging
Transcript: ENSMUST00000034239
AA Change: R394Q

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

SMART Domains

Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
AA Change: R394Q

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

probably benign
Transcript: ENSMUST00000212968

Predicted Effect

probably benign
Transcript: ENSMUST00000213004

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	T	C	14: 34,236,383 (GRCm39)	H44R	unknown	Het
Acp6	C	T	3: 97,078,961 (GRCm39)	H254Y	probably damaging	Het
Acvrl1	A	G	15: 101,033,404 (GRCm39)	N97S	possibly damaging	Het
Afm	T	A	5: 90,696,675 (GRCm39)	V455E	probably damaging	Het
Ankrd44	G	T	1: 54,692,952 (GRCm39)	D927E	probably benign	Het
Ap2a2	T	C	7: 141,191,258 (GRCm39)	V275A	probably benign	Het
Arfgef2	A	T	2: 166,701,221 (GRCm39)	Q673L	probably damaging	Het
Atp6v0a2	T	C	5: 124,797,061 (GRCm39)	F814L	probably damaging	Het
Axdnd1	G	A	1: 156,219,516 (GRCm39)	A193V		Het
Bicra	T	A	7: 15,721,481 (GRCm39)	I679L	probably benign	Het
Ccm2l	G	A	2: 152,909,756 (GRCm39)	R36H	probably damaging	Het
Cd160	T	A	3: 96,713,102 (GRCm39)	D54V	probably damaging	Het
Cela3a	C	T	4: 137,133,222 (GRCm39)	G50D	probably benign	Het
Cep152	T	A	2: 125,421,770 (GRCm39)	R987*	probably null	Het
Cnnm2	T	C	19: 46,845,362 (GRCm39)	V618A	probably benign	Het
Crim1	G	A	17: 78,653,409 (GRCm39)	R593Q	possibly damaging	Het
Ctsc	A	G	7: 87,959,024 (GRCm39)	S435G	probably benign	Het
Dcbld1	G	T	10: 52,195,958 (GRCm39)	A460S	probably benign	Het
Dcbld2	A	G	16: 58,276,715 (GRCm39)	E502G	probably benign	Het
Dhx30	A	T	9: 109,913,513 (GRCm39)	L1207*	probably null	Het
Dlx2	A	T	2: 71,376,716 (GRCm39)	S7R	possibly damaging	Het
Dmwd	T	A	7: 18,814,973 (GRCm39)	I541N	probably damaging	Het
Dmxl1	T	G	18: 49,997,575 (GRCm39)	L588V	possibly damaging	Het
Dmxl1	C	T	18: 50,026,741 (GRCm39)	P1950S	probably damaging	Het
Dnhd1	T	A	7: 105,358,528 (GRCm39)	L3339*	probably null	Het
Elovl1	C	A	4: 118,288,709 (GRCm39)	P160Q	probably damaging	Het
Epg5	T	A	18: 78,022,434 (GRCm39)	L1059Q	probably damaging	Het
Fam149b	C	T	14: 20,402,777 (GRCm39)	S53F	probably benign	Het
Fat1	T	A	8: 45,495,331 (GRCm39)	C4140S	probably damaging	Het
Gria2	C	T	3: 80,615,200 (GRCm39)	V427I	probably damaging	Het
H2al2a	C	A	2: 18,001,537 (GRCm39)	A50S	probably damaging	Het
Hspbp1	T	C	7: 4,684,858 (GRCm39)	M132V	possibly damaging	Het
Igsf9	C	T	1: 172,312,033 (GRCm39)		probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kif1b	A	T	4: 149,332,273 (GRCm39)	D553E	probably damaging	Het
Kif3a	T	A	11: 53,474,189 (GRCm39)	L251Q	probably damaging	Het
Klb	T	A	5: 65,533,026 (GRCm39)	I445K	probably damaging	Het
Klhl29	T	A	12: 5,190,710 (GRCm39)		probably null	Het
Lipf	A	G	19: 33,942,273 (GRCm39)	K68E	probably benign	Het
Lnx2	T	A	5: 146,970,236 (GRCm39)	I169L	probably benign	Het
Lrba	A	C	3: 86,522,388 (GRCm39)	I2223L	probably benign	Het
Lrp1	C	T	10: 127,391,896 (GRCm39)	D2890N	possibly damaging	Het
Lrp1b	T	C	2: 41,325,640 (GRCm39)	T926A		Het
Lrrc37a	T	A	11: 103,391,490 (GRCm39)	I1312F	probably benign	Het
Lrrc71	T	C	3: 87,647,153 (GRCm39)	H477R	possibly damaging	Het
Lrrc8e	T	C	8: 4,284,141 (GRCm39)	V122A	probably damaging	Het
Lsm14b	T	C	2: 179,667,107 (GRCm39)		probably null	Het
Magel2	A	C	7: 62,029,999 (GRCm39)	I968L	unknown	Het
Mapkbp1	T	C	2: 119,850,050 (GRCm39)	V771A	probably benign	Het
Mtmr4	T	C	11: 87,493,626 (GRCm39)	S295P	probably benign	Het
Nanos3	T	A	8: 84,902,815 (GRCm39)	T116S	probably benign	Het
Nectin3	T	C	16: 46,269,265 (GRCm39)	D379G	probably benign	Het
Nelfa	T	C	5: 34,093,539 (GRCm39)	H14R	possibly damaging	Het
Nnt	A	G	13: 119,502,967 (GRCm39)	W593R	unknown	Het
Nudt2	A	T	4: 41,477,575 (GRCm39)	M19L	probably benign	Het
Or4c115	T	A	2: 88,927,891 (GRCm39)	K127*	probably null	Het
Or52p1	A	T	7: 104,267,467 (GRCm39)	T194S	probably damaging	Het
Or5m13b	T	C	2: 85,754,328 (GRCm39)	S239P	probably damaging	Het
Or5w22	T	A	2: 87,362,580 (GRCm39)	C68S	probably benign	Het
Or6f1	T	A	7: 85,970,369 (GRCm39)	I264F	possibly damaging	Het
Palld	A	T	8: 61,969,735 (GRCm39)	D1196E	unknown	Het
Parl	A	G	16: 20,116,909 (GRCm39)	L96P	probably damaging	Het
Pip4k2a	T	C	2: 18,852,367 (GRCm39)	D305G	probably benign	Het
Pkhd1l1	T	C	15: 44,392,915 (GRCm39)	V1750A	possibly damaging	Het
Prkdc	A	G	16: 15,493,229 (GRCm39)	E712G	probably null	Het
Rasgrf2	T	C	13: 92,158,225 (GRCm39)	E532G	possibly damaging	Het
Rbp3	T	A	14: 33,677,792 (GRCm39)	L580Q	probably damaging	Het
Ribc2	G	T	15: 85,016,337 (GRCm39)		probably benign	Het
Rmnd5b	T	C	11: 51,515,322 (GRCm39)	S315G	probably benign	Het
Rp1l1	T	A	14: 64,259,445 (GRCm39)	V29E	probably damaging	Het
Sclt1	T	C	3: 41,681,541 (GRCm39)	T93A	probably benign	Het
Shroom1	T	A	11: 53,355,994 (GRCm39)	L348H	probably damaging	Het
Slc13a1	T	C	6: 24,090,785 (GRCm39)	K545E	probably benign	Het
Slc20a2	C	T	8: 23,030,396 (GRCm39)	P151S	probably damaging	Het
Slc22a4	T	C	11: 53,879,718 (GRCm39)	Y447C	probably damaging	Het
Slu7	C	A	11: 43,333,480 (GRCm39)	Q367K	probably benign	Het
Spen	T	C	4: 141,201,889 (GRCm39)	N2246S	possibly damaging	Het
Tac4	T	G	11: 95,156,045 (GRCm39)	I42S	possibly damaging	Het
Tmem87a	A	G	2: 120,190,541 (GRCm39)	V530A		Het
Tnrc6c	T	C	11: 117,640,089 (GRCm39)	I1208T	possibly damaging	Het
Vmn1r230	C	T	17: 21,067,321 (GRCm39)	T170I	possibly damaging	Het
Vps29	A	G	5: 122,498,212 (GRCm39)	D51G	probably benign	Het
Washc2	T	C	6: 116,231,399 (GRCm39)	L874P	probably damaging	Het
Wdr5b	T	C	16: 35,861,926 (GRCm39)	L15P	probably benign	Het
Zscan20	T	A	4: 128,479,847 (GRCm39)	Q881H	probably damaging	Het
Zscan20	T	G	4: 128,479,848 (GRCm39)	Q881P	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
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
R9137:Katnb1	UTSW	8	95,824,320 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGAAACCTAGCTGGACACCTG -3'
(R):5'- GGTCAGATACATGGTAGGCAC -3'

Sequencing Primer
(F):5'- TAGCTGGACACCTGTAGCAG -3'
(R):5'- CAGATACATGGTAGGCACTTTTAGG -3'

Posted On

2021-10-11