Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02369:Katnal1'

290864

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Katnal1

Ensembl Gene

ENSMUSG00000041298

Gene Name

katanin p60 subunit A-like 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL02369

Quality Score

Status

Chromosome

Chromosomal Location

148808394-148865978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148815737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 400 (D400G)

Ref Sequence

ENSEMBL: ENSMUSP00000043210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047257]

AlphaFold

Q8K0T4

Predicted Effect

probably benign
Transcript: ENSMUST00000047257
AA Change: D400G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000043210
Gene: ENSMUSG00000041298
AA Change: D400G

Domain	Start	End	E-Value	Type
PDB:2RPA\|A	1	72	3e-19	PDB
low complexity region	100	111	N/A	INTRINSIC
low complexity region	127	138	N/A	INTRINSIC
AAA	238	380	3.01e-20	SMART
Pfam:Vps4_C	437	486	2.1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139269

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU induced mutation display male infertility with decreased testis weight and premature exfoliation of spermatids from the seminiferous epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	G	T	6: 39,551,678 (GRCm39)	L148F	probably damaging	Het
Arhgef10	G	A	8: 15,047,551 (GRCm39)	R1138H	probably damaging	Het
Arpp21	T	C	9: 111,948,266 (GRCm39)	T668A	probably benign	Het
Atp6v0b	T	A	4: 117,742,850 (GRCm39)	I79F	possibly damaging	Het
Atp8b5	A	T	4: 43,334,205 (GRCm39)	N324Y	probably benign	Het
Bach2	A	G	4: 32,579,975 (GRCm39)	I610M	possibly damaging	Het
Casr	G	T	16: 36,315,051 (GRCm39)	D929E	probably benign	Het
Cbln2	T	C	18: 86,731,479 (GRCm39)	S96P	probably damaging	Het
Cpxm1	T	C	2: 130,238,344 (GRCm39)	K73E	probably damaging	Het
Erap1	A	G	13: 74,814,645 (GRCm39)	Y457C	probably benign	Het
Etl4	T	C	2: 20,535,000 (GRCm39)	Y152H	probably damaging	Het
Fbh1	A	T	2: 11,751,969 (GRCm39)	S910T	possibly damaging	Het
Gm10142	T	C	10: 77,551,947 (GRCm39)	S103P	probably benign	Het
Gm12886	A	G	4: 121,280,229 (GRCm39)	S16P	unknown	Het
Gpr146	T	C	5: 139,378,443 (GRCm39)	Y82H	probably benign	Het
Herc1	C	T	9: 66,399,293 (GRCm39)	Q4282*	probably null	Het
Htr2a	A	T	14: 74,943,722 (GRCm39)	E434V	probably benign	Het
Iqsec3	T	C	6: 121,389,893 (GRCm39)		probably benign	Het
Islr	A	C	9: 58,064,907 (GRCm39)	V200G	probably damaging	Het
Lonrf2	A	G	1: 38,850,913 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,294,980 (GRCm39)	L3446Q	probably damaging	Het
Med12l	G	A	3: 59,164,794 (GRCm39)	V1425I	probably benign	Het
Myh13	T	C	11: 67,251,100 (GRCm39)		probably benign	Het
Nutm2	T	G	13: 50,623,944 (GRCm39)	S214A	probably benign	Het
Or10aa1	T	A	1: 173,869,539 (GRCm39)	W8R	possibly damaging	Het
Or2h1b	A	G	17: 37,462,665 (GRCm39)	F66S	probably damaging	Het
Or5b99	T	C	19: 12,977,072 (GRCm39)	S241P	probably damaging	Het
Or6c33	C	A	10: 129,853,425 (GRCm39)	A65E	possibly damaging	Het
Pax5	A	T	4: 44,691,919 (GRCm39)	M109K	probably damaging	Het
Pfkfb2	G	A	1: 130,628,572 (GRCm39)	R345W	probably damaging	Het
Pkd1l3	A	G	8: 110,342,977 (GRCm39)	D105G	unknown	Het
Prdm11	A	G	2: 92,805,864 (GRCm39)	V362A	probably benign	Het
Prex2	T	C	1: 11,171,393 (GRCm39)		probably null	Het
Prl8a1	T	C	13: 27,760,924 (GRCm39)	T103A	possibly damaging	Het
Rgl1	T	C	1: 152,409,357 (GRCm39)	I493V	probably damaging	Het
Rimkla	A	G	4: 119,335,146 (GRCm39)	V79A	possibly damaging	Het
Ryr2	A	T	13: 11,634,382 (GRCm39)	S3791R	possibly damaging	Het
Sh3rf2	C	A	18: 42,289,222 (GRCm39)	S681*	probably null	Het
Stmnd1	T	A	13: 46,439,029 (GRCm39)	I87K	probably benign	Het
Tspan8	C	A	10: 115,675,782 (GRCm39)	F149L	probably benign	Het
Tspan8	A	C	10: 115,675,783 (GRCm39)	K150Q	probably benign	Het
Ttn	T	C	2: 76,772,720 (GRCm39)	E2425G	probably damaging	Het

Other mutations in Katnal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Katnal1	APN	5	148,830,607 (GRCm39)	splice site	probably benign
R0001:Katnal1	UTSW	5	148,858,085 (GRCm39)	missense	probably damaging	0.98
R0230:Katnal1	UTSW	5	148,855,460 (GRCm39)	missense	possibly damaging	0.60
R0308:Katnal1	UTSW	5	148,815,734 (GRCm39)	missense	possibly damaging	0.95
R0591:Katnal1	UTSW	5	148,829,326 (GRCm39)	missense	probably damaging	1.00
R1220:Katnal1	UTSW	5	148,831,061 (GRCm39)	missense	probably benign	0.00
R1448:Katnal1	UTSW	5	148,841,486 (GRCm39)	missense	probably benign	0.37
R2163:Katnal1	UTSW	5	148,825,746 (GRCm39)	missense	probably damaging	1.00
R4791:Katnal1	UTSW	5	148,841,460 (GRCm39)	missense	probably damaging	1.00
R5168:Katnal1	UTSW	5	148,858,132 (GRCm39)	missense	possibly damaging	0.91
R6182:Katnal1	UTSW	5	148,841,407 (GRCm39)	missense	possibly damaging	0.83
R6542:Katnal1	UTSW	5	148,813,016 (GRCm39)	missense	probably benign	0.01
R6836:Katnal1	UTSW	5	148,830,974 (GRCm39)	missense	probably damaging	1.00
R7077:Katnal1	UTSW	5	148,828,547 (GRCm39)	missense	probably benign	0.00
R7490:Katnal1	UTSW	5	148,828,492 (GRCm39)	missense	probably null	0.00
R9282:Katnal1	UTSW	5	148,831,021 (GRCm39)	nonsense	probably null
R9436:Katnal1	UTSW	5	148,815,761 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16