Mutagenetix > Incidental Mutation

Incidental Mutation 'R1419:Katnal2'

160013

Institutional Source

Beutler Lab

Gene Symbol

Katnal2

Ensembl Gene

ENSMUSG00000025420

Gene Name

katanin p60 subunit A-like 2

Synonyms

4933439B08Rik, 3110023G01Rik

MMRRC Submission

039475-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76977148-77047308 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76977432 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 481 (L481Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122984] [ENSMUST00000126153] [ENSMUST00000135029] [ENSMUST00000137354] [ENSMUST00000137498] [ENSMUST00000148955] [ENSMUST00000150990]

AlphaFold

Q9D3R6

Predicted Effect

probably benign
Transcript: ENSMUST00000122984

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126153
AA Change: L525Q

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122079
Gene: ENSMUSG00000025420
AA Change: L525Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135029

SMART Domains

Protein: ENSMUSP00000115411
Gene: ENSMUSG00000025420

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
AA Change: L263Q

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118511
Gene: ENSMUSG00000025420
AA Change: L263Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137498
AA Change: L481Q

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420
AA Change: L481Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148955

SMART Domains

Protein: ENSMUSP00000116243
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.4e-21	PFAM
Pfam:HAD_2	161	223	1.1e-7	PFAM
Pfam:Hydrolase_like	176	251	1.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150990

SMART Domains

Protein: ENSMUSP00000114212
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.4e-21	PFAM
Pfam:HAD_2	161	223	1.1e-7	PFAM
Pfam:Hydrolase_like	176	251	1.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154053

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,374,902	M894K	probably benign	Het
Ablim1	C	A	19: 57,134,633	C173F	probably damaging	Het
Abtb2	G	T	2: 103,709,420	R710L	probably benign	Het
AI481877	T	C	4: 59,064,457	T826A	possibly damaging	Het
Arap3	T	C	18: 37,978,432	T1144A	possibly damaging	Het
Arhgef12	A	T	9: 43,027,220	V92D	probably damaging	Het
Ash1l	T	G	3: 88,984,897	M1361R	probably damaging	Het
Atm	A	C	9: 53,457,489	N2337K	probably benign	Het
Cog7	T	C	7: 121,955,992	E316G	probably damaging	Het
Dsp	A	G	13: 38,186,695	Y858C	probably damaging	Het
Enc1	G	T	13: 97,246,184	G401C	probably damaging	Het
Gata6	T	C	18: 11,064,706	V506A	probably benign	Het
Gm16380	C	T	9: 53,884,187		noncoding transcript	Het
H2-Ke6	G	A	17: 34,027,643	R89C	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ift80	T	A	3: 68,940,198	N322Y	probably damaging	Het
Igsf9	T	A	1: 172,498,011	V1082E	probably damaging	Het
Kcnma1	T	C	14: 23,367,642	T713A	probably damaging	Het
Kif13a	T	C	13: 46,825,235	T230A	probably damaging	Het
Klhl14	C	A	18: 21,652,193	R59L	probably damaging	Het
Mecom	A	G	3: 29,980,889	C213R	probably damaging	Het
Mrpl13	T	A	15: 55,534,321	M178L	probably benign	Het
Myof	T	C	19: 37,901,911	E1971G	probably damaging	Het
Naa10	A	G	X: 73,917,916	V133A	probably damaging	Het
Nlrp4g	G	A	9: 124,349,434		noncoding transcript	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1042	A	G	2: 86,159,429	*314Q	probably null	Het
Olfr1234	T	C	2: 89,363,322	T36A	probably damaging	Het
Olfr1297	A	T	2: 111,621,295	F260I	probably benign	Het
Oplah	T	C	15: 76,297,920	I1047V	probably benign	Het
Paip1	A	G	13: 119,457,017	D189G	probably damaging	Het
Pkn1	A	G	8: 83,673,522	F624L	probably damaging	Het
Plxnb1	C	A	9: 109,114,386	P1899H	probably damaging	Het
Rpa3	T	A	6: 8,257,720	E47D	probably benign	Het
Snai2	C	T	16: 14,708,180	H232Y	possibly damaging	Het
Spint5	T	C	2: 164,715,411	S23P	possibly damaging	Het
St8sia2	G	A	7: 73,966,994	Q78*	probably null	Het
Tktl2	A	G	8: 66,513,038	N416S	probably damaging	Het
Tm7sf3	T	A	6: 146,603,977	I494F	possibly damaging	Het
Trf	C	T	9: 103,226,108	V119M	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
IGL00976:Katnal2	APN	18	77017493	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
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

Predicted Primers

PCR Primer
(F):5'- CTGCTGACATCCATGACACGAGAG -3'
(R):5'- GCTTTAAGCTCCATAGCCCCATCAC -3'

Sequencing Primer
(F):5'- GCTCATGTTTCCAaaggaacacag -3'
(R):5'- ACAGGATGTCTGCACTGTC -3'

Posted On

2014-03-14