Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00976:Katnal2'

29458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Katnal2

Ensembl Gene

ENSMUSG00000025420

Gene Name

katanin p60 subunit A-like 2

Synonyms

4933439B08Rik, 3110023G01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00976

Quality Score

Status

Chromosome

Chromosomal Location

76977148-77047308 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77017493 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 86 (Y86C)

Ref Sequence

ENSEMBL: ENSMUSP00000119066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026486] [ENSMUST00000122984] [ENSMUST00000123650] [ENSMUST00000126153] [ENSMUST00000135029] [ENSMUST00000137354] [ENSMUST00000137498] [ENSMUST00000154665]

AlphaFold

Q9D3R6

Predicted Effect

probably damaging
Transcript: ENSMUST00000026486
AA Change: Y86C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026486
Gene: ENSMUSG00000025420
AA Change: Y86C

Domain	Start	End	E-Value	Type
LisH	25	57	8.53e-6	SMART
AAA	287	400	6.46e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122984

Predicted Effect

probably benign
Transcript: ENSMUST00000123650

Predicted Effect

probably damaging
Transcript: ENSMUST00000126153
AA Change: Y86C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122079
Gene: ENSMUSG00000025420
AA Change: Y86C

Domain	Start	End	E-Value	Type
LisH	25	57	8.53e-6	SMART
AAA	287	425	1.74e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135029
AA Change: Y86C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115411
Gene: ENSMUSG00000025420
AA Change: Y86C

Domain	Start	End	E-Value	Type
LisH	25	57	8.53e-6	SMART
AAA	287	372	2.95e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137354

SMART Domains

Protein: ENSMUSP00000118511
Gene: ENSMUSG00000025420

Domain	Start	End	E-Value	Type
AAA	25	163	1.74e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000137498
AA Change: Y44C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420
AA Change: Y44C

Domain	Start	End	E-Value	Type
AAA	243	381	1.74e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000154665
AA Change: Y86C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119066
Gene: ENSMUSG00000025420
AA Change: Y86C

Domain	Start	End	E-Value	Type
LisH	25	57	8.53e-6	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519F16Rik	A	G	X: 103,183,262		probably benign	Het
Aldob	C	A	4: 49,541,220	V151L	probably damaging	Het
Cacna1i	G	A	15: 80,355,645	M298I	probably benign	Het
Capn3	A	G	2: 120,491,901	N414S	possibly damaging	Het
Ccdc186	G	A	19: 56,797,500	T701M	probably damaging	Het
Ccdc190	A	T	1: 169,933,740	H137L	probably benign	Het
Clhc1	G	A	11: 29,561,389	D278N	probably benign	Het
Cntnap3	T	C	13: 64,794,352	Y188C	probably damaging	Het
Dnah1	A	C	14: 31,278,138	V2466G	probably damaging	Het
Dnah8	A	G	17: 30,851,710	T4457A	probably damaging	Het
Gm13078	T	A	4: 143,727,015	M231K	probably damaging	Het
Hectd4	A	G	5: 121,349,106	Q3388R	probably benign	Het
Hecw1	T	A	13: 14,318,972	D316V	probably damaging	Het
Il1rap	T	C	16: 26,698,839	V263A	probably benign	Het
Il6	G	A	5: 30,014,841	G72S	probably benign	Het
Kdm7a	G	T	6: 39,144,398	S874R	possibly damaging	Het
Mybpc2	T	C	7: 44,522,317		probably null	Het
Nphs1	T	G	7: 30,460,685	S130A	possibly damaging	Het
Ntrk3	C	T	7: 78,450,953	V444I	probably benign	Het
Numbl	T	C	7: 27,268,810	V144A	possibly damaging	Het
Olfr952	T	A	9: 39,426,657	Y138F	probably benign	Het
P2rx1	T	C	11: 73,013,000		probably null	Het
Pcdhb3	G	A	18: 37,302,948	V656I	probably benign	Het
Pole	A	G	5: 110,323,572	Y1394C	probably benign	Het
Rbm47	A	G	5: 66,026,738	V174A	possibly damaging	Het
Rhox4f	T	C	X: 37,604,395		probably benign	Het
Serpina12	T	C	12: 104,032,528	Y317C	probably damaging	Het
Slc12a5	T	A	2: 164,979,304	I236N	probably damaging	Het
Slc4a4	G	A	5: 88,954,798	G32R	probably damaging	Het
Slco1a4	T	C	6: 141,807,182		probably null	Het
Sorcs3	A	T	19: 48,767,103	N894I	probably damaging	Het
Stk38l	A	G	6: 146,775,402	E393G	probably benign	Het
Synpo	A	G	18: 60,603,419	I485T	possibly damaging	Het
Tenm3	T	A	8: 48,256,841	M1687L	probably benign	Het
Ttc39c	T	C	18: 12,684,895		probably benign	Het
Unc13d	T	C	11: 116,070,467	E378G	probably damaging	Het
Vmn2r118	T	A	17: 55,593,204	N567Y	probably damaging	Het

Other mutations in Katnal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Katnal2	APN	18	77002754	missense	probably damaging	1.00
IGL01012:Katnal2	APN	18	77017554	missense	probably damaging	0.96
IGL01302:Katnal2	APN	18	77047167	splice site	probably benign
IGL01377:Katnal2	APN	18	77002457	missense	probably damaging	1.00
IGL01532:Katnal2	APN	18	77012000	missense	probably benign
IGL03203:Katnal2	APN	18	77007524	missense	probably damaging	1.00
R0592:Katnal2	UTSW	18	77002560	splice site	probably null
R1348:Katnal2	UTSW	18	76978542	splice site	probably null
R1419:Katnal2	UTSW	18	76977432	missense	possibly damaging	0.85
R1755:Katnal2	UTSW	18	77012067	missense	probably benign	0.01
R1772:Katnal2	UTSW	18	77002537	missense	probably damaging	1.00
R1852:Katnal2	UTSW	18	77016023	missense	probably benign	0.08
R1952:Katnal2	UTSW	18	76980011	missense	probably benign	0.00
R2115:Katnal2	UTSW	18	76980091	missense	probably damaging	1.00
R2155:Katnal2	UTSW	18	77010941	missense	probably benign	0.01
R4765:Katnal2	UTSW	18	76977543	splice site	probably null
R5126:Katnal2	UTSW	18	77017598	missense	probably benign	0.13
R5141:Katnal2	UTSW	18	76997641	missense	probably damaging	1.00
R5315:Katnal2	UTSW	18	77012009	missense	probably benign	0.02
R5358:Katnal2	UTSW	18	77017494	missense	possibly damaging	0.47
R5412:Katnal2	UTSW	18	77002435	missense	probably damaging	1.00
R6289:Katnal2	UTSW	18	77017455	splice site	probably null
R6647:Katnal2	UTSW	18	76980037	missense	probably benign	0.01
R6919:Katnal2	UTSW	18	77011038	missense	probably benign	0.05
R7039:Katnal2	UTSW	18	77047172	critical splice donor site	probably null
R7285:Katnal2	UTSW	18	76993575	missense	probably benign	0.20
Z1176:Katnal2	UTSW	18	77012057	missense	probably benign

Posted On

2013-04-17