Mutagenetix > Incidental Mutation

Incidental Mutation 'R4930:Katnb1'

381156

Institutional Source

Beutler Lab

Gene Symbol

Katnb1

Ensembl Gene

ENSMUSG00000031787

Gene Name

katanin p80 (WD40-containing) subunit B 1

Synonyms

KAT, 2410003J24Rik

MMRRC Submission

042531-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95807804-95826502 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 95823922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034239 (fasta)

Gene Model

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

AlphaFold

Q8BG40

Predicted Effect

probably null
Transcript: ENSMUST00000034239

SMART Domains

Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787

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

noncoding transcript
Transcript: ENSMUST00000212895

Predicted Effect

probably benign
Transcript: ENSMUST00000212968

Predicted Effect

probably benign
Transcript: ENSMUST00000213004

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

99% (88/89)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	T	12: 72,953,008 (GRCm39)	E242K	possibly damaging	Het
A930011G23Rik	A	G	5: 99,370,263 (GRCm39)	M499T	possibly damaging	Het
Abcb8	G	A	5: 24,605,779 (GRCm39)	V196M	possibly damaging	Het
Ahnak	T	C	19: 8,988,331 (GRCm39)	M3205T	possibly damaging	Het
Ankrd1	A	G	19: 36,092,433 (GRCm39)	Y265H	probably damaging	Het
Apeh	A	G	9: 107,965,024 (GRCm39)	S446P	probably benign	Het
Apip	C	A	2: 102,922,226 (GRCm39)	Y197*	probably null	Het
Arhgef11	T	G	3: 87,635,901 (GRCm39)	V925G	probably damaging	Het
Arid4b	T	C	13: 14,362,062 (GRCm39)	V929A	probably damaging	Het
Asah2	T	A	19: 32,030,306 (GRCm39)	D122V	probably benign	Het
B2m	A	T	2: 121,982,128 (GRCm39)	D116V	possibly damaging	Het
Bhmt-ps1	A	G	4: 26,369,184 (GRCm39)		noncoding transcript	Het
Cacna1g	T	A	11: 94,334,899 (GRCm39)	I803F	probably damaging	Het
Ccdc43	A	T	11: 102,581,111 (GRCm39)	V113E	probably damaging	Het
Cenpj	A	T	14: 56,772,238 (GRCm39)	Y388*	probably null	Het
Chd3	G	A	11: 69,245,034 (GRCm39)		probably benign	Het
Chil3	C	T	3: 106,071,524 (GRCm39)	D47N	possibly damaging	Het
Colgalt2	A	G	1: 152,375,710 (GRCm39)	T361A	possibly damaging	Het
Cops3	C	A	11: 59,726,193 (GRCm39)		probably benign	Het
Crb2	G	T	2: 37,673,326 (GRCm39)	G74V	probably damaging	Het
Cspg4b	G	T	13: 113,464,196 (GRCm39)	G1453C	probably damaging	Het
Cyp20a1	A	T	1: 60,405,878 (GRCm39)	Y224F	probably damaging	Het
Diaph3	A	G	14: 87,378,602 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,550,904 (GRCm39)	Y3127*	probably null	Het
Eef1akmt3	A	C	10: 126,877,224 (GRCm39)	S14A	possibly damaging	Het
Ehf	C	A	2: 103,097,202 (GRCm39)	R250L	probably damaging	Het
Eps8l1	G	A	7: 4,463,915 (GRCm39)	R13Q	possibly damaging	Het
Frem2	A	C	3: 53,563,736 (GRCm39)	V257G	possibly damaging	Het
Gc	T	C	5: 89,587,448 (GRCm39)	T259A	probably benign	Het
Gm4952	A	T	19: 12,604,376 (GRCm39)	N263Y	probably benign	Het
Gpcpd1	T	A	2: 132,388,794 (GRCm39)	H326L	probably damaging	Het
Helz	T	C	11: 107,510,994 (GRCm39)	F617L	probably damaging	Het
Hoxb4	T	C	11: 96,209,662 (GRCm39)	Y23H	probably damaging	Het
Hsf4	T	A	8: 105,999,330 (GRCm39)		probably null	Het
Ift56	A	T	6: 38,368,475 (GRCm39)	Y174F	probably damaging	Het
Ighv1-81	T	C	12: 115,883,924 (GRCm39)	D109G	probably damaging	Het
Irx4	T	C	13: 73,417,032 (GRCm39)	V476A	probably benign	Het
L3mbtl1	A	G	2: 162,807,692 (GRCm39)	Y490C	probably damaging	Het
Lemd2	A	G	17: 27,412,806 (GRCm39)		probably null	Het
Lrrc38	A	T	4: 143,096,438 (GRCm39)	T250S	probably damaging	Het
Map3k8	A	T	18: 4,349,215 (GRCm39)	Y34*	probably null	Het
Mgst1	T	A	6: 138,130,507 (GRCm39)	F79I	probably benign	Het
Midn	T	C	10: 79,991,189 (GRCm39)	S357P	probably benign	Het
Mmp3	T	A	9: 7,447,640 (GRCm39)	D208E	probably benign	Het
Mrps26	A	G	2: 130,406,862 (GRCm39)	E163G	probably damaging	Het
Mycbpap	A	T	11: 94,393,983 (GRCm39)	M371K	probably benign	Het
Mynn	A	C	3: 30,661,191 (GRCm39)	N91T	probably damaging	Het
Nek11	A	G	9: 105,177,265 (GRCm39)	L292P	probably damaging	Het
Nid1	A	T	13: 13,684,596 (GRCm39)	R1228W	probably damaging	Het
Nphs2	T	C	1: 156,148,499 (GRCm39)	Y121H	probably damaging	Het
Or1f19	T	G	16: 3,410,299 (GRCm39)	L13R	probably damaging	Het
Or4p7	G	A	2: 88,222,284 (GRCm39)	R231H	probably benign	Het
Or5ac22	C	A	16: 59,135,236 (GRCm39)	C178F	probably damaging	Het
Or5ap2	T	A	2: 85,680,237 (GRCm39)	I147N	probably benign	Het
Or5d38	A	C	2: 87,954,684 (GRCm39)	I215S	probably benign	Het
Or7e176	T	C	9: 20,171,313 (GRCm39)	I59T	probably damaging	Het
Or9q2	T	C	19: 13,772,915 (GRCm39)	H20R	probably benign	Het
P2rx7	C	T	5: 122,808,542 (GRCm39)	T308M	probably damaging	Het
Prdx6	C	T	1: 161,069,263 (GRCm39)		probably benign	Het
Rad54b	T	A	4: 11,615,579 (GRCm39)	D862E	probably damaging	Het
Ripor1	A	G	8: 106,343,814 (GRCm39)	Y344C	probably damaging	Het
Rnf112	T	C	11: 61,344,291 (GRCm39)	M43V	probably benign	Het
Rp1l1	A	G	14: 64,269,655 (GRCm39)	N1747S	probably benign	Het
Rps27	A	G	3: 90,120,306 (GRCm39)	V22A	probably damaging	Het
Spaca1	A	G	4: 34,044,236 (GRCm39)	V86A	possibly damaging	Het
Spdef	A	G	17: 27,937,136 (GRCm39)	Y156H	probably damaging	Het
Specc1	A	C	11: 62,009,784 (GRCm39)	E433D	possibly damaging	Het
Srpra	T	A	9: 35,126,326 (GRCm39)	F506L	probably benign	Het
Stxbp5	A	G	10: 9,636,610 (GRCm39)		probably benign	Het
Syne1	C	T	10: 5,002,777 (GRCm39)	R8046Q	probably damaging	Het
Tbx5	T	A	5: 120,021,090 (GRCm39)	S365R	probably benign	Het
Terb1	G	T	8: 105,174,580 (GRCm39)	P698Q	probably benign	Het
Tmbim7	T	A	5: 3,711,948 (GRCm39)	Y27*	probably null	Het
Tmem106c	C	A	15: 97,862,909 (GRCm39)	A60E	possibly damaging	Het
Ttc6	T	A	12: 57,720,609 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,562,714 (GRCm39)	I28747V	possibly damaging	Het
Unc13a	C	T	8: 72,083,148 (GRCm39)		probably null	Het
Wdr81	T	C	11: 75,342,750 (GRCm39)	D839G	probably benign	Het
Wfdc15a	G	C	2: 164,041,725 (GRCm39)	Q33E	probably benign	Het
Zfp456	T	C	13: 67,515,065 (GRCm39)	R214G	probably benign	Het
Zfp457	T	A	13: 67,442,164 (GRCm39)	Y137F	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
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'- AACTGTTGGGTCCCATCCAC -3'
(R):5'- ATGATGTCAGGTTCACCCTTG -3'

Sequencing Primer
(F):5'- AGGACCCTCACCTGCTGATG -3'
(R):5'- TTCACCCTTGGGTGCAGGAG -3'

Posted On

2016-04-15