Mutagenetix > Incidental Mutations

Incidental Mutation 'R1220:Katnal1'

99991

Institutional Source

Beutler Lab

Gene Symbol

Katnal1

Ensembl Gene

ENSMUSG00000041298

Gene Name

katanin p60 subunit A-like 1

Synonyms

MMRRC Submission

039289-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R1220 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148871584-148929320 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 148894251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 171 (A171V)

Ref Sequence

ENSEMBL: ENSMUSP00000120502 (fasta)

Gene Model

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

AlphaFold

Q8K0T4

Predicted Effect

probably benign
Transcript: ENSMUST00000047257
AA Change: A171V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043210
Gene: ENSMUSG00000041298
AA Change: A171V

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: ENSMUST00000110508

Predicted Effect

probably benign
Transcript: ENSMUST00000110509
AA Change: A171V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106136
Gene: ENSMUSG00000041298
AA Change: A171V

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
AA Change: A171V

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

SMART Domains

Protein: ENSMUSP00000120502
Gene: ENSMUSG00000106892
AA Change: A171V

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

0.0591

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.2%

Validation Efficiency

100% (35/35)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	C	A	7: 119,658,314	S407R	probably benign	Het
Add2	A	T	6: 86,087,000	M94L	possibly damaging	Het
Anks6	A	T	4: 47,025,767		probably benign	Het
Atxn1	A	G	13: 45,557,423	S678P	probably benign	Het
Ccnc	A	G	4: 21,732,491	Y76C	probably damaging	Het
Col1a1	G	T	11: 94,951,131	A1335S	unknown	Het
Col25a1	G	T	3: 130,388,925		probably benign	Het
Commd10	C	A	18: 47,087,040	Q195K	probably damaging	Het
Cps1	G	A	1: 67,204,703		probably null	Het
Cramp1l	A	T	17: 24,982,237	V757D	probably damaging	Het
Cttn	T	C	7: 144,463,962	T13A	probably benign	Het
Eftud2	A	G	11: 102,851,747		probably benign	Het
Eif4enif1	A	G	11: 3,239,493		probably benign	Het
Exoc3l2	T	A	7: 19,491,784		probably benign	Het
Fam118b	T	C	9: 35,223,673	S213G	possibly damaging	Het
Lrig3	A	G	10: 125,997,076	N273S	probably damaging	Het
Lrriq1	G	A	10: 103,071,129	R1577W	probably benign	Het
Olfr385	A	C	11: 73,589,377	Y120*	probably null	Het
Olfr495	T	A	7: 108,395,332	S71T	probably benign	Het
Pmel	A	G	10: 128,714,060	D30G	probably benign	Het
Ppp1r15a	T	C	7: 45,523,869	Y505C	probably damaging	Het
Prpf40b	C	T	15: 99,316,348	R830C	probably benign	Het
Rabgap1l	A	T	1: 160,738,909	D106E	probably damaging	Het
Rad18	C	A	6: 112,649,664	E141*	probably null	Het
Ros1	C	T	10: 52,098,870	V1540M	probably damaging	Het
Secisbp2	G	A	13: 51,656,905	R201H	probably damaging	Het
Shisa6	A	G	11: 66,220,010	S302P	probably damaging	Het
Slamf9	C	A	1: 172,477,331	Q171K	probably benign	Het
Sox6	T	A	7: 115,662,442	T180S	probably damaging	Het
Ttn	T	C	2: 76,723,654	S30902G	possibly damaging	Het
Xirp1	A	G	9: 120,017,916	F634L	possibly damaging	Het
Yrdc	T	A	4: 124,854,536	S278T	possibly damaging	Het

Other mutations in Katnal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Katnal1	APN	5	148893797	splice site	probably benign
IGL02369:Katnal1	APN	5	148878927	missense	probably benign	0.04
R0001:Katnal1	UTSW	5	148921275	missense	probably damaging	0.98
R0230:Katnal1	UTSW	5	148918650	missense	possibly damaging	0.60
R0308:Katnal1	UTSW	5	148878924	missense	possibly damaging	0.95
R0591:Katnal1	UTSW	5	148892516	missense	probably damaging	1.00
R1448:Katnal1	UTSW	5	148904676	missense	probably benign	0.37
R2163:Katnal1	UTSW	5	148888936	missense	probably damaging	1.00
R4791:Katnal1	UTSW	5	148904650	missense	probably damaging	1.00
R5168:Katnal1	UTSW	5	148921322	missense	possibly damaging	0.91
R6182:Katnal1	UTSW	5	148904597	missense	possibly damaging	0.83
R6542:Katnal1	UTSW	5	148876206	missense	probably benign	0.01
R6836:Katnal1	UTSW	5	148894164	missense	probably damaging	1.00
R7077:Katnal1	UTSW	5	148891737	missense	probably benign	0.00
R7490:Katnal1	UTSW	5	148891682	missense	probably null	0.00
R9282:Katnal1	UTSW	5	148894211	nonsense	probably null
R9436:Katnal1	UTSW	5	148878951	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGCACACTTATTCAAGCCACACC -3'
(R):5'- TGGACCCACATGCACACATTCG -3'

Sequencing Primer
(F):5'- CGAGCAAACTCTATCAGTGTGTC -3'
(R):5'- GTTGTCACTGGCCATAACTTCTC -3'

Posted On

2014-01-15