Mutagenetix > Incidental Mutation

Incidental Mutation 'R7077:Katnal1'

549275

Institutional Source

Beutler Lab

Gene Symbol

Katnal1

Ensembl Gene

ENSMUSG00000041298

Gene Name

katanin p60 subunit A-like 1

Synonyms

MMRRC Submission

045172-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148808394-148865978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148828547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 300 (T300A)

Ref Sequence

ENSEMBL: ENSMUSP00000043210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047257] [ENSMUST00000110509] [ENSMUST00000147473]

AlphaFold

Q8K0T4

Predicted Effect

probably benign
Transcript: ENSMUST00000047257
AA Change: T300A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000043210
Gene: ENSMUSG00000041298
AA Change: T300A

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

probably benign
Transcript: ENSMUST00000110509

SMART Domains

Protein: ENSMUSP00000106136
Gene: ENSMUSG00000041298

Domain	Start	End	E-Value	Type
PDB:2RPA\|A	1	72	3e-20	PDB
low complexity region	100	111	N/A	INTRINSIC
low complexity region	127	138	N/A	INTRINSIC
Blast:AAA	159	229	8e-7	BLAST
PDB:4L16\|A	184	234	3e-8	PDB
SCOP:d1iqpa2	185	234	4e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147473

SMART Domains

Protein: ENSMUSP00000120502
Gene: ENSMUSG00000106892

Domain	Start	End	E-Value	Type
PDB:2RPA\|A	1	72	1e-20	PDB
low complexity region	100	111	N/A	INTRINSIC
low complexity region	127	138	N/A	INTRINSIC

Meta Mutation Damage Score

0.1914

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,605,893 (GRCm39)	C623Y	probably damaging	Het
Ago3	T	C	4: 126,265,325 (GRCm39)	K322R	probably null	Het
Ankrd17	T	C	5: 90,433,723 (GRCm39)	H682R	possibly damaging	Het
Aoah	A	G	13: 21,094,276 (GRCm39)	D187G	probably damaging	Het
Arhgap17	T	C	7: 122,879,231 (GRCm39)	D840G	unknown	Het
AW551984	C	T	9: 39,502,723 (GRCm39)	V650I	probably benign	Het
Bok	T	A	1: 93,616,911 (GRCm39)	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,510,272 (GRCm39)	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,417,199 (GRCm39)	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,540,134 (GRCm39)	I977S	unknown	Het
Cobl	T	C	11: 12,203,441 (GRCm39)	N1087S	probably benign	Het
Cyp21a1	C	A	17: 35,021,333 (GRCm39)	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,561,490 (GRCm39)	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,269,580 (GRCm39)	I120S	probably damaging	Het
Enpp2	A	C	15: 54,764,787 (GRCm39)	D146E	probably benign	Het
Exosc9	T	C	3: 36,607,205 (GRCm39)	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,268,498 (GRCm39)	G300S	probably benign	Het
Focad	C	A	4: 88,328,914 (GRCm39)	A1709E	unknown	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fsip2	T	C	2: 82,813,496 (GRCm39)	F3272L	probably benign	Het
Gcnt2	G	A	13: 41,013,896 (GRCm39)	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928 (GRCm39)	E50G	probably damaging	Het
Gm10375	G	T	14: 43,840,427 (GRCm39)	T162K	probably benign	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Gm4924	T	C	10: 82,215,057 (GRCm39)	F952L	unknown	Het
Heatr1	T	C	13: 12,433,045 (GRCm39)	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,159,756 (GRCm39)	Y442H	unknown	Het
Hp1bp3	C	A	4: 137,966,929 (GRCm39)	T408N	probably damaging	Het
Htra3	A	G	5: 35,825,660 (GRCm39)	V198A	probably damaging	Het
Lipo5	G	T	19: 33,445,170 (GRCm39)	P133Q		Het
Lrp1b	A	T	2: 41,660,858 (GRCm39)	H197Q		Het
Mdc1	C	A	17: 36,156,839 (GRCm39)	A82D	probably damaging	Het
Mstn	A	T	1: 53,103,408 (GRCm39)	D248V	probably benign	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Ola1	G	A	2: 72,972,308 (GRCm39)	T221I	probably damaging	Het
Or52z1	A	G	7: 103,436,593 (GRCm39)	I297T	probably damaging	Het
Or5t7	T	C	2: 86,507,236 (GRCm39)	Y147C	possibly damaging	Het
Or7e166	T	A	9: 19,624,428 (GRCm39)	S102T	probably benign	Het
Or8c20	T	A	9: 38,261,266 (GRCm39)	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,623,201 (GRCm39)	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,810,093 (GRCm39)	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,460,086 (GRCm39)	N190I	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,281,633 (GRCm39)	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,071,820 (GRCm39)	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,607,855 (GRCm39)	D501V	probably benign	Het
Smarcd3	G	T	5: 24,799,960 (GRCm39)	A270D	probably damaging	Het
Srgap2	A	G	1: 131,272,187 (GRCm39)	M33T		Het
Tle1	G	C	4: 72,076,612 (GRCm39)	P139A	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tsbp1	C	A	17: 34,659,856 (GRCm39)	T93N	possibly damaging	Het
Zfp658	T	A	7: 43,223,413 (GRCm39)	S563T	probably benign	Het
Zswim9	G	A	7: 12,993,679 (GRCm39)	R826C	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
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
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'- AAAAGTGAGTCACAGCTGCC -3'
(R):5'- TTTCACTCAGCATCACCAACTATG -3'

Sequencing Primer
(F):5'- CACTGAGAACTTTCAGAGCATG -3'
(R):5'- AGTTTTATTTTTGAATTGGCTGTTCC -3'

Posted On

2019-05-15