Mutagenetix > Incidental Mutation

Incidental Mutation 'R6647:Katnal2'

526151

Institutional Source

Beutler Lab

Gene Symbol

Katnal2

Ensembl Gene

ENSMUSG00000025420

Gene Name

katanin p60 subunit A-like 2

Synonyms

4933439B08Rik, 3110023G01Rik

MMRRC Submission

044768-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6647 (G1)

Quality Score

175.009

Status

Validated

Chromosome

Chromosomal Location

77064844-77135004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77067733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 403 (E403K)

Ref Sequence

ENSEMBL: ENSMUSP00000117495 (fasta)

Gene Model

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

AlphaFold

Q9D3R6

Predicted Effect

probably benign
Transcript: ENSMUST00000122984

Predicted Effect

probably benign
Transcript: ENSMUST00000126153
AA Change: E447K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122079
Gene: ENSMUSG00000025420
AA Change: E447K

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: E185K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118511
Gene: ENSMUSG00000025420
AA Change: E185K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137498
AA Change: E403K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420
AA Change: E403K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154053

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,544,060 (GRCm39)	T1416A	probably damaging	Het
Atp7b	A	G	8: 22,518,494 (GRCm39)	S103P	probably damaging	Het
Ces1h	A	C	8: 94,078,654 (GRCm39)	*563G	probably null	Het
Cfap157	G	T	2: 32,669,086 (GRCm39)	A339E	probably benign	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Cyp2b13	A	G	7: 25,785,324 (GRCm39)	H231R	possibly damaging	Het
Ddx31	A	T	2: 28,765,750 (GRCm39)	T483S	probably damaging	Het
Defa25	A	T	8: 21,575,201 (GRCm39)	D60V	possibly damaging	Het
Dnah5	G	A	15: 28,403,633 (GRCm39)	A3453T	probably benign	Het
Dnah6	A	T	6: 73,115,743 (GRCm39)	F1500I	probably damaging	Het
Eprs1	C	T	1: 185,146,621 (GRCm39)	A1217V	probably damaging	Het
Ermp1	T	C	19: 29,604,335 (GRCm39)	Y481C	probably benign	Het
Fmn2	T	A	1: 174,420,670 (GRCm39)	N635K	unknown	Het
Fras1	A	G	5: 96,883,061 (GRCm39)	D2531G	probably damaging	Het
Frat1	C	T	19: 41,819,264 (GRCm39)	Q220*	probably null	Het
Gcc2	T	A	10: 58,123,103 (GRCm39)		probably null	Het
Gm3285	T	C	10: 77,698,447 (GRCm39)		probably benign	Het
Gm9857	T	C	3: 108,847,379 (GRCm39)		probably benign	Het
Grin2b	C	A	6: 135,710,108 (GRCm39)	W1146L	probably damaging	Het
Hells	T	A	19: 38,919,948 (GRCm39)	L33I	probably benign	Het
Ift81	T	A	5: 122,748,229 (GRCm39)	R54*	probably null	Het
Ints12	G	A	3: 132,802,639 (GRCm39)	R41Q	possibly damaging	Het
Kcnk1	A	G	8: 126,722,199 (GRCm39)	M1V	probably null	Het
Kdm5a	A	G	6: 120,389,422 (GRCm39)	T950A	probably benign	Het
Kdr	G	A	5: 76,113,549 (GRCm39)	A773V	probably damaging	Het
Lats1	G	C	10: 7,573,271 (GRCm39)	M118I	possibly damaging	Het
Mug1	A	G	6: 121,817,200 (GRCm39)	I90V	probably benign	Het
Nid2	A	G	14: 19,852,484 (GRCm39)	D1064G	probably benign	Het
Nkx2-4	A	T	2: 146,926,187 (GRCm39)	I225N	possibly damaging	Het
Nlrp4e	A	G	7: 23,020,740 (GRCm39)	D409G	probably benign	Het
Ogfod2	G	C	5: 124,252,866 (GRCm39)	R292P	possibly damaging	Het
Oprk1	C	T	1: 5,672,507 (GRCm39)	P215S	probably damaging	Het
Or5d36	A	T	2: 87,901,053 (GRCm39)	F224L	probably benign	Het
Or6c35	T	A	10: 129,169,033 (GRCm39)	C94*	probably null	Het
Or7g27	T	A	9: 19,249,925 (GRCm39)	H56Q	possibly damaging	Het
Or8g21	T	C	9: 38,906,210 (GRCm39)	I174V	possibly damaging	Het
Pcdhb16	A	G	18: 37,612,225 (GRCm39)	K395R	possibly damaging	Het
Ptprg	C	A	14: 11,962,714 (GRCm38)	P171T	probably damaging	Het
Pycard	T	C	7: 127,592,741 (GRCm39)	T29A	probably benign	Het
Rap1gap2	G	A	11: 74,298,754 (GRCm39)	A452V	probably benign	Het
Rasgrf1	C	G	9: 89,892,516 (GRCm39)	T1072S	probably benign	Het
Rc3h2	G	A	2: 37,272,956 (GRCm39)	R707*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Senp7	T	C	16: 55,993,618 (GRCm39)	I767T	probably damaging	Het
Setd7	A	G	3: 51,450,183 (GRCm39)	V81A	probably benign	Het
Shisal2a	A	G	4: 108,225,224 (GRCm39)	S113P	probably benign	Het
Shkbp1	A	G	7: 27,041,800 (GRCm39)	S685P	probably benign	Het
Snrnp200	A	G	2: 127,068,372 (GRCm39)	E904G	probably damaging	Het
Spata22	T	A	11: 73,245,526 (GRCm39)		probably null	Het
Spata31e2	T	A	1: 26,721,659 (GRCm39)	N1174Y	probably damaging	Het
Tas2r138	G	T	6: 40,589,733 (GRCm39)	T171K	possibly damaging	Het
Tor1aip1	T	C	1: 155,893,999 (GRCm39)	D77G	possibly damaging	Het
Vav3	A	T	3: 109,434,732 (GRCm39)	H421L	probably benign	Het
Vmn1r43	A	G	6: 89,846,841 (GRCm39)	L215P	probably damaging	Het
Vmn2r100	T	A	17: 19,742,785 (GRCm39)	S386R	probably benign	Het
Xpa	T	A	4: 46,183,089 (GRCm39)	R233S	probably benign	Het

Other mutations in Katnal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Katnal2	APN	18	77,090,450 (GRCm39)	missense	probably damaging	1.00
IGL00976:Katnal2	APN	18	77,105,189 (GRCm39)	missense	probably damaging	1.00
IGL01012:Katnal2	APN	18	77,105,250 (GRCm39)	missense	probably damaging	0.96
IGL01302:Katnal2	APN	18	77,134,863 (GRCm39)	splice site	probably benign
IGL01377:Katnal2	APN	18	77,090,153 (GRCm39)	missense	probably damaging	1.00
IGL01532:Katnal2	APN	18	77,099,696 (GRCm39)	missense	probably benign
IGL03203:Katnal2	APN	18	77,095,220 (GRCm39)	missense	probably damaging	1.00
R0592:Katnal2	UTSW	18	77,090,256 (GRCm39)	splice site	probably null
R1348:Katnal2	UTSW	18	77,066,238 (GRCm39)	splice site	probably null
R1419:Katnal2	UTSW	18	77,065,128 (GRCm39)	missense	possibly damaging	0.85
R1755:Katnal2	UTSW	18	77,099,763 (GRCm39)	missense	probably benign	0.01
R1772:Katnal2	UTSW	18	77,090,233 (GRCm39)	missense	probably damaging	1.00
R1852:Katnal2	UTSW	18	77,103,719 (GRCm39)	missense	probably benign	0.08
R1952:Katnal2	UTSW	18	77,067,707 (GRCm39)	missense	probably benign	0.00
R2115:Katnal2	UTSW	18	77,067,787 (GRCm39)	missense	probably damaging	1.00
R2155:Katnal2	UTSW	18	77,098,637 (GRCm39)	missense	probably benign	0.01
R4765:Katnal2	UTSW	18	77,065,239 (GRCm39)	splice site	probably null
R5126:Katnal2	UTSW	18	77,105,294 (GRCm39)	missense	probably benign	0.13
R5141:Katnal2	UTSW	18	77,085,337 (GRCm39)	missense	probably damaging	1.00
R5315:Katnal2	UTSW	18	77,099,705 (GRCm39)	missense	probably benign	0.02
R5358:Katnal2	UTSW	18	77,105,190 (GRCm39)	missense	possibly damaging	0.47
R5412:Katnal2	UTSW	18	77,090,131 (GRCm39)	missense	probably damaging	1.00
R6289:Katnal2	UTSW	18	77,105,151 (GRCm39)	splice site	probably null
R6919:Katnal2	UTSW	18	77,098,734 (GRCm39)	missense	probably benign	0.05
R7039:Katnal2	UTSW	18	77,134,868 (GRCm39)	critical splice donor site	probably null
R7285:Katnal2	UTSW	18	77,081,271 (GRCm39)	missense	probably benign	0.20
Z1176:Katnal2	UTSW	18	77,099,753 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAATTCGTAGCCCTCTGTGGAC -3'
(R):5'- TTACTGGGCCCGTGAAATG -3'

Sequencing Primer
(F):5'- GCCAGGATTTGACTATAGGCTCC -3'
(R):5'- TGAAATGGCTCCCCGAGTG -3'

Posted On

2018-06-22