Mutagenetix > Incidental Mutation

Incidental Mutation 'R5141:Katnal2'

396504

Institutional Source

Beutler Lab

Gene Symbol

Katnal2

Ensembl Gene

ENSMUSG00000025420

Gene Name

katanin p60 subunit A-like 2

Synonyms

4933439B08Rik, 3110023G01Rik

MMRRC Submission

042727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77064844-77135004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77085337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 310 (D310V)

Ref Sequence

ENSEMBL: ENSMUSP00000117495 (fasta)

Gene Model

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

AlphaFold

Q9D3R6

Predicted Effect

probably damaging
Transcript: ENSMUST00000026486
AA Change: D354V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026486
Gene: ENSMUSG00000025420
AA Change: D354V

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

noncoding transcript
Transcript: ENSMUST00000125744

Predicted Effect

probably damaging
Transcript: ENSMUST00000126153
AA Change: D354V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122079
Gene: ENSMUSG00000025420
AA Change: D354V

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: D354V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115411
Gene: ENSMUSG00000025420
AA Change: D354V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000137354
AA Change: D92V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118511
Gene: ENSMUSG00000025420
AA Change: D92V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000137498
AA Change: D310V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420
AA Change: D310V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138336

Meta Mutation Damage Score

0.9677

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (76/79)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,810,577 (GRCm39)	V193A	probably benign	Het
Adamts18	T	A	8: 114,501,902 (GRCm39)	T320S	probably damaging	Het
Adamtsl1	G	T	4: 86,075,087 (GRCm39)	M151I	possibly damaging	Het
Adgrv1	A	T	13: 81,419,037 (GRCm39)	V5986E	probably damaging	Het
Aifm3	A	G	16: 17,317,586 (GRCm39)	E69G	probably damaging	Het
Akap13	C	A	7: 75,259,362 (GRCm39)	T662K	probably benign	Het
Alms1	A	G	6: 85,598,414 (GRCm39)	D1080G	probably benign	Het
Als2	T	C	1: 59,209,611 (GRCm39)	E1457G	possibly damaging	Het
Apobec4	A	G	1: 152,631,964 (GRCm39)		probably benign	Het
Apoo-ps	C	T	13: 107,550,895 (GRCm39)		noncoding transcript	Het
Aspscr1	G	A	11: 120,580,003 (GRCm39)	V181I	probably benign	Het
Atrn	T	C	2: 130,841,050 (GRCm39)		probably benign	Het
C3	T	A	17: 57,526,570 (GRCm39)	I804F	probably damaging	Het
Cbfa2t3	C	T	8: 123,361,760 (GRCm39)	G421R	probably benign	Het
Chmp4c	A	G	3: 10,432,213 (GRCm39)	E41G	probably damaging	Het
Clk4	T	A	11: 51,166,598 (GRCm39)	F96L	possibly damaging	Het
Ctsg	G	A	14: 56,339,184 (GRCm39)	R25*	probably null	Het
Cul1	A	G	6: 47,497,773 (GRCm39)	D618G	probably benign	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dip2a	G	A	10: 76,106,287 (GRCm39)	T1326I	probably damaging	Het
Etnk2	A	G	1: 133,296,600 (GRCm39)	I210V	probably benign	Het
Gm5773	T	A	3: 93,681,034 (GRCm39)	D235E	probably benign	Het
Gm7353	T	C	7: 3,161,001 (GRCm39)		noncoding transcript	Het
Gpi1	G	A	7: 33,926,521 (GRCm39)		probably benign	Het
Ing4	T	C	6: 125,016,837 (GRCm39)	M5T	probably benign	Het
Inpp4a	A	G	1: 37,419,168 (GRCm39)	I583V	probably benign	Het
Isyna1	T	C	8: 71,047,543 (GRCm39)	V64A	probably damaging	Het
Kbtbd8	A	G	6: 95,098,820 (GRCm39)	T126A	probably damaging	Het
Kif13a	T	C	13: 46,906,197 (GRCm39)	D582G	probably benign	Het
Lmf2	G	A	15: 89,235,810 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,382,693 (GRCm39)		probably null	Het
Lrp4	T	C	2: 91,309,023 (GRCm39)		probably benign	Het
Lyzl1	A	C	18: 4,169,209 (GRCm39)	D71A	possibly damaging	Het
Mak	C	T	13: 41,186,039 (GRCm39)	C543Y	possibly damaging	Het
Mapk8ip1	T	C	2: 92,217,110 (GRCm39)	D404G	probably damaging	Het
Mdga1	C	T	17: 30,071,467 (GRCm39)	E385K	probably benign	Het
Mst1r	T	A	9: 107,789,440 (GRCm39)	I573N	probably damaging	Het
Muc5ac	T	A	7: 141,368,479 (GRCm39)	N2365K	possibly damaging	Het
Ncan	T	C	8: 70,565,487 (GRCm39)	E179G	probably damaging	Het
Nlgn2	C	T	11: 69,716,216 (GRCm39)	R775H	probably damaging	Het
Or10d5	T	G	9: 39,861,170 (GRCm39)	K299T	probably benign	Het
Or4c122	A	C	2: 89,079,473 (GRCm39)	Y176*	probably null	Het
Or8g20	A	G	9: 39,395,827 (GRCm39)	F238L	probably damaging	Het
Pcolce	G	T	5: 137,604,012 (GRCm39)	Q352K	probably benign	Het
Peg3	G	T	7: 6,712,381 (GRCm39)	T947N	probably benign	Het
Pld3	C	T	7: 27,233,220 (GRCm39)	D344N	probably damaging	Het
Plec	A	C	15: 76,074,733 (GRCm39)	D411E	probably damaging	Het
Pmp2	C	T	3: 10,247,474 (GRCm39)	D72N	probably benign	Het
Ptpn9	T	C	9: 56,943,960 (GRCm39)	V278A	possibly damaging	Het
Rbm33	A	G	5: 28,557,687 (GRCm39)	H300R	probably damaging	Het
Rpgrip1l	T	C	8: 91,987,546 (GRCm39)	Q837R	probably benign	Het
Rwdd4a	T	C	8: 48,003,709 (GRCm39)		probably benign	Het
Sema6a	T	C	18: 47,381,455 (GRCm39)	T1048A	probably damaging	Het
Senp1	G	A	15: 97,974,488 (GRCm39)	A108V	probably benign	Het
Serpine2	G	T	1: 79,780,580 (GRCm39)	Q290K	possibly damaging	Het
Sesn1	A	G	10: 41,687,097 (GRCm39)	N27S	probably benign	Het
Shroom1	T	A	11: 53,354,809 (GRCm39)	L243*	probably null	Het
Slc17a5	A	G	9: 78,448,270 (GRCm39)	Y395H	probably damaging	Het
Slc5a8	T	C	10: 88,755,422 (GRCm39)		probably null	Het
Sptbn5	G	A	2: 119,892,212 (GRCm39)	S1083F	probably benign	Het
Stx4a	T	A	7: 127,445,787 (GRCm39)	V231E	probably damaging	Het
Swt1	A	T	1: 151,287,145 (GRCm39)	S116T	probably benign	Het
Syt9	C	T	7: 107,103,426 (GRCm39)	T408I	probably damaging	Het
Tgm7	T	C	2: 120,931,480 (GRCm39)	T228A	probably benign	Het
Tmem115	A	G	9: 107,415,141 (GRCm39)	D310G	probably benign	Het
Trcg1	G	A	9: 57,148,587 (GRCm39)	G53D	probably damaging	Het
Tsfm	T	C	10: 126,865,482 (GRCm39)	K100E	probably damaging	Het
Usp1	A	G	4: 98,822,446 (GRCm39)	T587A	probably damaging	Het
Vcpip1	G	T	1: 9,818,302 (GRCm39)	A27E	unknown	Het
Vmn2r49	T	C	7: 9,720,300 (GRCm39)	N397S	probably benign	Het
Vmn2r8	A	G	5: 108,956,572 (GRCm39)	S17P	probably damaging	Het
Vwa3b	A	G	1: 37,226,102 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,998,114 (GRCm39)	S1094T	probably benign	Het
Zbtb22	C	G	17: 34,137,610 (GRCm39)	S585C	possibly damaging	Het
Zhx2	A	G	15: 57,685,182 (GRCm39)	T184A	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
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
R6647:Katnal2	UTSW	18	77,067,733 (GRCm39)	missense	probably benign	0.01
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'- TTCTGTGTCCCTGCAGAAAATC -3'
(R):5'- TGGTTATAAGGGTGCCTCCGAG -3'

Sequencing Primer
(F):5'- CCCTGCAGAAAATCTGTGGGC -3'
(R):5'- CCTCCGAGTACCATTGTAGGATG -3'

Posted On

2016-06-21