Mutagenetix > Incidental Mutation

Incidental Mutation 'R9018:Katna1'

686146

Institutional Source

Beutler Lab

Gene Symbol

Katna1

Ensembl Gene

ENSMUSG00000019794

Gene Name

katanin p60 (ATPase-containing) subunit A1

Synonyms

MMRRC Submission

068848-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

R9018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7601764-7638914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 7637040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 397 (L397R)

Ref Sequence

ENSEMBL: ENSMUSP00000132514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019929] [ENSMUST00000165806] [ENSMUST00000173511] [ENSMUST00000174007]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000019929
AA Change: L395R

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

SMART Domains

Protein: ENSMUSP00000019929
Gene: ENSMUSG00000019794
AA Change: L395R

Domain	Start	End	E-Value	Type
PDB:2RPA\|A	1	72	2e-44	PDB
AAA	241	383	5.2e-22	SMART
low complexity region	387	400	N/A	INTRINSIC
Pfam:Vps4_C	438	489	3.4e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165806
AA Change: L397R

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

SMART Domains

Protein: ENSMUSP00000132514
Gene: ENSMUSG00000019794
AA Change: L397R

Domain	Start	End	E-Value	Type
PDB:2RPA\|A	1	74	6e-46	PDB
AAA	243	385	3.23e-20	SMART
low complexity region	389	402	N/A	INTRINSIC
Pfam:Vps4_C	440	491	4.8e-12	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000173511
AA Change: L15R

SMART Domains

Protein: ENSMUSP00000134254
Gene: ENSMUSG00000019794
AA Change: L15R

Domain	Start	End	E-Value	Type
SCOP:d1e32a2	2	43	3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174007

SMART Domains

Protein: ENSMUSP00000133321
Gene: ENSMUSG00000019794

Domain	Start	End	E-Value	Type
Pfam:AAA	1	60	1.7e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (77/77)

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. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2011]

Allele List at MGI

All alleles(15) : Targeted(2) Gene trapped(13)

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,918,532 (GRCm39)	E1552G	probably damaging	Het
Abca14	A	T	7: 119,888,763 (GRCm39)	K1236N	probably benign	Het
Adam3	A	T	8: 25,184,292 (GRCm39)	Y569*	probably null	Het
Adgrb2	A	G	4: 129,907,659 (GRCm39)	T998A	probably benign	Het
Adgre4	T	A	17: 56,098,993 (GRCm39)	H166Q	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Ankrd11	A	G	8: 123,622,251 (GRCm39)	S534P	probably damaging	Het
Atn1	C	T	6: 124,722,661 (GRCm39)	E805K	unknown	Het
Bsn	T	C	9: 107,994,488 (GRCm39)	T596A	probably benign	Het
Cacnb4	C	T	2: 52,324,706 (GRCm39)	R452Q	probably benign	Het
Cdc123	C	A	2: 5,849,683 (GRCm39)	A13S	probably benign	Het
Chd7	G	A	4: 8,847,083 (GRCm39)	G1609S	possibly damaging	Het
Cp	T	A	3: 20,043,316 (GRCm39)	C1035S	probably damaging	Het
Dcaf1	T	A	9: 106,742,836 (GRCm39)	C1383S	probably damaging	Het
Derl3	G	A	10: 75,729,604 (GRCm39)	V54I	probably benign	Het
Dgcr6	T	C	16: 17,884,607 (GRCm39)	L25P	probably damaging	Het
Dmrt2	A	G	19: 25,650,985 (GRCm39)	E57G	probably benign	Het
Dnaaf11	A	T	15: 66,321,479 (GRCm39)	S221T	probably benign	Het
Dst	A	G	1: 34,235,140 (GRCm39)	K3562E	probably damaging	Het
Dyrk2	T	C	10: 118,696,014 (GRCm39)	T415A	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbln1	T	C	15: 85,126,215 (GRCm39)	I484T	probably damaging	Het
Greb1l	T	A	18: 10,542,004 (GRCm39)	D1250E	possibly damaging	Het
Ift88	A	C	14: 57,675,702 (GRCm39)	K72Q	probably benign	Het
Impg1	T	A	9: 80,301,474 (GRCm39)	I228F	probably benign	Het
Itsn2	A	G	12: 4,708,091 (GRCm39)	N799S	possibly damaging	Het
Jade1	T	A	3: 41,564,292 (GRCm39)	C521S	probably benign	Het
Kcnj15	A	C	16: 95,097,129 (GRCm39)	K250N	probably damaging	Het
Macc1	A	G	12: 119,409,941 (GRCm39)	I236M	possibly damaging	Het
Mapk13	C	T	17: 28,996,760 (GRCm39)	R276C	probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mindy4	C	T	6: 55,278,072 (GRCm39)	H639Y	possibly damaging	Het
Mphosph9	A	G	5: 124,436,713 (GRCm39)	S544P	probably benign	Het
Muc4	T	C	16: 32,582,910 (GRCm39)	Y492H		Het
Mybbp1a	C	T	11: 72,334,420 (GRCm39)	T225I	probably benign	Het
Myo6	A	T	9: 80,159,086 (GRCm39)	K285I	unknown	Het
Nmd3	G	A	3: 69,647,328 (GRCm39)	V277I	probably benign	Het
Nol9	G	C	4: 152,123,918 (GRCm39)	R36P	probably damaging	Het
Nom1	A	G	5: 29,639,712 (GRCm39)	R13G	possibly damaging	Het
Nudt14	G	A	12: 112,902,906 (GRCm39)	H40Y	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or5b118	A	T	19: 13,448,721 (GRCm39)	H87L	possibly damaging	Het
Or8d1b	T	A	9: 38,887,687 (GRCm39)	F238L	probably benign	Het
Pcnx4	T	A	12: 72,603,437 (GRCm39)	F492I	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pgghg	A	G	7: 140,524,579 (GRCm39)	I309V	probably benign	Het
Phf12	C	T	11: 77,914,510 (GRCm39)	P651S	possibly damaging	Het
Pltp	A	G	2: 164,694,410 (GRCm39)	L199P	probably damaging	Het
Pole	T	A	5: 110,437,675 (GRCm39)	L78I	probably benign	Het
Ppm1d	C	A	11: 85,227,961 (GRCm39)	H292Q	probably damaging	Het
Ppp2cb	A	C	8: 34,105,787 (GRCm39)	I224L	probably benign	Het
Rabggta	A	T	14: 55,957,880 (GRCm39)	I171N	probably damaging	Het
Rapgef5	A	G	12: 117,712,132 (GRCm39)	I740V	probably damaging	Het
Rb1cc1	G	A	1: 6,319,490 (GRCm39)	E970K	probably benign	Het
Rnh1	A	T	7: 140,748,544 (GRCm39)	V11D	probably benign	Het
Robo4	C	T	9: 37,315,520 (GRCm39)	T288I	probably benign	Het
Scmh1	A	G	4: 120,362,514 (GRCm39)	D250G	probably benign	Het
Sele	T	A	1: 163,881,248 (GRCm39)	C483S	probably damaging	Het
Slc12a6	A	G	2: 112,174,585 (GRCm39)		probably benign	Het
Slc5a4a	A	G	10: 76,002,546 (GRCm39)	E234G	possibly damaging	Het
Smarca5	A	G	8: 81,431,355 (GRCm39)	L954P	probably damaging	Het
St7	T	A	6: 17,906,494 (GRCm39)	N413K	probably damaging	Het
Stam2	C	T	2: 52,606,463 (GRCm39)	V141I	probably benign	Het
Stim1	C	T	7: 102,060,482 (GRCm39)	T175I	probably benign	Het
Strap	A	G	6: 137,716,811 (GRCm39)	N130S	probably benign	Het
Stxbp2	A	G	8: 3,692,627 (GRCm39)		probably benign	Het
Sult3a2	T	A	10: 33,655,689 (GRCm39)	I97F	probably benign	Het
Tbc1d32	A	T	10: 55,948,693 (GRCm39)	N965K	probably benign	Het
Tle3	T	A	9: 61,319,750 (GRCm39)	I506N	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tvp23a	A	G	16: 10,264,846 (GRCm39)	S22P	probably damaging	Het
Vmn2r82	A	G	10: 79,232,539 (GRCm39)	N846S	probably damaging	Het
Vmn2r83	A	G	10: 79,316,020 (GRCm39)	N472S	probably damaging	Het
Xpo7	G	A	14: 70,944,864 (GRCm39)	Q10*	probably null	Het
Zfp423	G	C	8: 88,508,381 (GRCm39)	S654R	probably benign	Het
Zfp646	A	T	7: 127,478,243 (GRCm39)	H140L	probably benign	Het
Zfp719	C	A	7: 43,233,489 (GRCm39)		probably benign	Het

Other mutations in Katna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Katna1	APN	10	7,638,568 (GRCm39)	missense	probably damaging	1.00
IGL00332:Katna1	APN	10	7,638,758 (GRCm39)	utr 3 prime	probably benign
IGL01385:Katna1	APN	10	7,628,574 (GRCm39)	missense	probably damaging	1.00
IGL01592:Katna1	APN	10	7,617,218 (GRCm39)	missense	probably damaging	1.00
P0018:Katna1	UTSW	10	7,617,223 (GRCm39)	missense	probably damaging	1.00
R0310:Katna1	UTSW	10	7,619,513 (GRCm39)	intron	probably benign
R2078:Katna1	UTSW	10	7,619,333 (GRCm39)	missense	probably benign	0.00
R2975:Katna1	UTSW	10	7,619,473 (GRCm39)	missense	probably benign	0.01
R3978:Katna1	UTSW	10	7,628,518 (GRCm39)	missense	probably damaging	1.00
R3979:Katna1	UTSW	10	7,628,518 (GRCm39)	missense	probably damaging	1.00
R4477:Katna1	UTSW	10	7,614,594 (GRCm39)	missense	probably damaging	0.98
R4480:Katna1	UTSW	10	7,614,594 (GRCm39)	missense	probably damaging	0.98
R5796:Katna1	UTSW	10	7,636,575 (GRCm39)	missense	probably damaging	0.98
R7938:Katna1	UTSW	10	7,637,075 (GRCm39)	missense	probably benign	0.00
R7965:Katna1	UTSW	10	7,614,623 (GRCm39)	missense	probably benign
R8275:Katna1	UTSW	10	7,628,574 (GRCm39)	missense	probably damaging	0.97
R8784:Katna1	UTSW	10	7,614,579 (GRCm39)	missense	possibly damaging	0.68
R8842:Katna1	UTSW	10	7,614,600 (GRCm39)	missense	probably benign
R9784:Katna1	UTSW	10	7,638,590 (GRCm39)	missense	probably null	0.01
Z1176:Katna1	UTSW	10	7,635,549 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATTCTTGGGACTCGGTGG -3'
(R):5'- ACATACTGTAAAGTGGGGCTCTTC -3'

Sequencing Primer
(F):5'- GAAGTGCACATGGCTCCTTATGC -3'
(R):5'- GGGATTAAACTCACGGCTTCACATG -3'

Posted On

2021-10-11