Mutagenetix > Incidental Mutation

Incidental Mutation 'R6542:Katnal1'

520831

Institutional Source

Beutler Lab

Gene Symbol

Katnal1

Ensembl Gene

ENSMUSG00000041298

Gene Name

katanin p60 subunit A-like 1

Synonyms

MMRRC Submission

044668-MU

Accession Numbers

Essential gene?

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

Stock #

R6542 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148808394-148865978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 148813016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 467 (A467T)

Ref Sequence

ENSEMBL: ENSMUSP00000043210 (fasta)

Gene Model

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

AlphaFold

Q8K0T4

Predicted Effect

probably benign
Transcript: ENSMUST00000047257
AA Change: A467T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000043210
Gene: ENSMUSG00000041298
AA Change: A467T

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

Meta Mutation Damage Score

0.1133

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (47/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,030,902 (GRCm39)	L566Q	probably damaging	Het
Apbb1ip	C	T	2: 22,764,972 (GRCm39)	T551I	probably benign	Het
Aqp5	A	G	15: 99,492,143 (GRCm39)	E247G	probably damaging	Het
Bdkrb1	T	C	12: 105,571,352 (GRCm39)	F306S	probably damaging	Het
Clca3a1	C	T	3: 144,465,021 (GRCm39)	V71I	probably benign	Het
Cog4	A	G	8: 111,577,994 (GRCm39)	D36G	probably damaging	Het
Ctbp1	A	G	5: 33,426,915 (GRCm39)		probably benign	Het
Dync1li2	C	T	8: 105,169,396 (GRCm39)	G13D	probably benign	Het
F5	T	C	1: 164,022,037 (GRCm39)	V1504A	probably benign	Het
Fancm	T	C	12: 65,144,203 (GRCm39)	L555P	probably damaging	Het
Fgfr2	A	T	7: 129,802,853 (GRCm39)	S152T	probably benign	Het
Fign	A	T	2: 63,810,639 (GRCm39)	H210Q	possibly damaging	Het
Hbs1l	A	G	10: 21,180,516 (GRCm39)	N66S	probably benign	Het
Ighv12-3	A	T	12: 114,330,435 (GRCm39)	M20K	probably benign	Het
Isoc2b	T	C	7: 4,854,454 (GRCm39)	K26E	probably damaging	Het
Loxl3	A	G	6: 83,025,147 (GRCm39)	T292A	probably benign	Het
Map3k9	A	G	12: 81,769,028 (GRCm39)	S1007P	possibly damaging	Het
Mcur1	A	T	13: 43,705,134 (GRCm39)	V174D	probably damaging	Het
Metrnl	A	C	11: 121,593,704 (GRCm39)		probably null	Het
Midn	A	G	10: 79,992,418 (GRCm39)	D490G	probably damaging	Het
Mmp10	G	A	9: 7,506,513 (GRCm39)	A330T	probably benign	Het
Mto1	T	A	9: 78,364,510 (GRCm39)	C281S	possibly damaging	Het
Nek10	A	G	14: 14,999,108 (GRCm38)	I1036V	probably benign	Het
Odad1	G	T	7: 45,597,814 (GRCm39)	A575S	probably benign	Het
Or13c7c	A	C	4: 43,835,686 (GRCm39)	L268R	probably benign	Het
Or1ab2	T	C	8: 72,863,715 (GRCm39)	F102L	probably damaging	Het
Or2b7	T	C	13: 21,739,677 (GRCm39)	T172A	probably damaging	Het
Or8b48	C	A	9: 38,450,733 (GRCm39)	L181I	probably benign	Het
Parp4	A	C	14: 56,885,339 (GRCm39)	I1473L	unknown	Het
Pcdhb9	A	G	18: 37,534,642 (GRCm39)	Y212C	probably damaging	Het
Pilra	G	T	5: 137,820,237 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,655,927 (GRCm39)	I202T	probably benign	Het
Ppfia2	A	T	10: 106,671,586 (GRCm39)	E432D	probably damaging	Het
Prom1	T	C	5: 44,194,851 (GRCm39)	D298G	possibly damaging	Het
Prr22	T	A	17: 57,077,527 (GRCm39)		probably null	Het
Septin2	T	A	1: 93,425,188 (GRCm39)		probably null	Het
Setdb1	C	A	3: 95,247,618 (GRCm39)	V426L	probably damaging	Het
Slc8b1	C	T	5: 120,667,582 (GRCm39)	A405V	probably damaging	Het
Srrm1	G	A	4: 135,068,237 (GRCm39)	R279*	probably null	Het
Ssh2	C	G	11: 77,340,976 (GRCm39)	D709E	possibly damaging	Het
Tmprss9	A	G	10: 80,724,389 (GRCm39)	D373G	probably damaging	Het
Trpm3	T	C	19: 22,903,477 (GRCm39)	L921S	probably benign	Het
Ubqln3	T	C	7: 103,790,824 (GRCm39)	N422S	probably benign	Het
Vmn2r105	C	T	17: 20,448,803 (GRCm39)	V125I	probably benign	Het
Vmn2r69	A	T	7: 85,060,413 (GRCm39)	Y390*	probably null	Het
Zcwpw1	T	C	5: 137,810,282 (GRCm39)	F353L	probably damaging	Het
Zfp462	G	A	4: 55,023,433 (GRCm39)	C987Y	probably damaging	Het
Zkscan4	A	G	13: 21,668,508 (GRCm39)	S320G	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
IGL02369:Katnal1	APN	5	148,815,737 (GRCm39)	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- TGGAGCCAGCAGACTGTATG -3'
(R):5'- CTGTAGTAATGGAAGTGCTGAGAAC -3'

Sequencing Primer
(F):5'- CCAGCAGACTGTATGATCATACCTTG -3'
(R):5'- CAGGTGCAGGGATGGCTG -3'

Posted On

2018-06-06