Mutagenetix > Incidental Mutations

Incidental Mutation 'R4870:Ankle2'

376490

Institutional Source

Beutler Lab

Gene Symbol

Ankle2

Ensembl Gene

ENSMUSG00000029501

Gene Name

ankyrin repeat and LEM domain containing 2

Synonyms

1110001J12Rik, D5Ertd585e

MMRRC Submission

042480-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R4870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110231004-110256651 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 110251478 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031474] [ENSMUST00000086674] [ENSMUST00000197188]

Predicted Effect

probably null
Transcript: ENSMUST00000031474

SMART Domains

Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
Pfam:LEM	74	112	6.6e-12	PFAM
ANK	358	387	7.75e2	SMART
ANK	419	448	3.31e-1	SMART
low complexity region	923	937	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000086674

SMART Domains

Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
Pfam:LEM	75	114	5.8e-9	PFAM
ANK	358	387	7.75e2	SMART
ANK	419	448	3.31e-1	SMART
low complexity region	845	859	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196821

Predicted Effect

probably null
Transcript: ENSMUST00000197188

SMART Domains

Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
Pfam:LEM	75	114	6.4e-9	PFAM
ANK	358	387	7.75e2	SMART
ANK	419	448	3.31e-1	SMART
low complexity region	923	937	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	C	A	7: 34,284,887	V104L	possibly damaging	Het
Abcb11	A	T	2: 69,239,196	I1285N	probably damaging	Het
Abcc8	G	A	7: 46,107,259	R721*	probably null	Het
Alox8	T	C	11: 69,186,568	Y423C	probably damaging	Het
Cdc14a	A	G	3: 116,423,460	I9T	probably benign	Het
Ceacam18	T	C	7: 43,641,904	C257R	probably damaging	Het
Cilp	T	C	9: 65,279,698	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,153,565		probably benign	Het
Csnk1d	A	T	11: 120,983,188		probably benign	Het
Cyp11b2	A	G	15: 74,853,146	S285P	probably benign	Het
Dip2b	T	A	15: 100,195,784		probably null	Het
Dmrt1	T	A	19: 25,505,855	M1K	probably null	Het
Dnajc14	T	C	10: 128,817,350	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,670,364	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,495,192	C772S	unknown	Het
F2rl1	A	T	13: 95,513,984	F130Y	probably damaging	Het
Galk2	C	G	2: 125,929,637	S194*	probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gpbp1l1	A	G	4: 116,573,517	T62A	probably benign	Het
H2-Q10	A	T	17: 35,470,460	D53V	probably damaging	Het
H2-T22	T	C	17: 36,039,032	K356R	probably benign	Het
Insrr	G	A	3: 87,811,604	V956M	probably damaging	Het
Ints7	A	G	1: 191,596,331	T239A	probably damaging	Het
Isl1	A	G	13: 116,308,270		probably benign	Het
Kcng2	A	G	18: 80,322,868	C90R	probably benign	Het
Kif3c	C	T	12: 3,401,735	P171S	probably damaging	Het
Knl1	A	G	2: 119,081,513	T1704A	probably benign	Het
Lats1	A	G	10: 7,705,785	Y778C	probably damaging	Het
Limd2	T	C	11: 106,159,389	M1V	probably null	Het
Mcm10	A	T	2: 5,004,159	I333N	probably damaging	Het
Mipep	T	A	14: 60,802,880	L283*	probably null	Het
Mixl1	A	G	1: 180,694,672	S215P	probably benign	Het
Mmp21	A	G	7: 133,678,677	L188P	probably damaging	Het
Mob1a	T	C	6: 83,340,239	S213P	probably benign	Het
Ndufaf6	T	C	4: 11,060,917	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651	Y135F	possibly damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026		probably benign	Het
Obscn	A	T	11: 59,136,206	L57Q	probably damaging	Het
Olfr1161	T	C	2: 88,025,460	L246P	probably damaging	Het
Olfr603	T	A	7: 103,383,633	D123V	probably damaging	Het
Pirb	T	A	7: 3,712,662	M839L	probably benign	Het
Plcl2	A	G	17: 50,607,226	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,949,033	N99S	probably benign	Het
Ptpro	A	G	6: 137,377,132	K169E	probably damaging	Het
Rita1	T	A	5: 120,611,383	K88N	probably damaging	Het
Rptn	A	T	3: 93,396,469	K370*	probably null	Het
Simc1	A	G	13: 54,539,763	D115G	probably null	Het
Stab1	T	A	14: 31,142,043	N136I	probably benign	Het
Syt4	T	A	18: 31,447,356		probably benign	Het
Sytl2	A	T	7: 90,388,898	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,729,493		probably benign	Het
Tenm2	A	T	11: 36,078,569	D847E	probably damaging	Het
Th	G	T	7: 142,894,097	D321E	probably benign	Het
Tmem44	A	T	16: 30,540,773	L46Q	probably damaging	Het
Trp53bp1	A	G	2: 121,256,641	L178P	probably damaging	Het
Trp63	A	G	16: 25,866,218	*285W	probably null	Het
Tsen34	T	C	7: 3,694,381		probably benign	Het
Tssk4	C	T	14: 55,651,815	T256I	probably benign	Het
Ttc17	A	T	2: 94,366,609	N464K	probably damaging	Het
Ttll2	C	T	17: 7,351,599	V310I	probably benign	Het
Ubn1	A	G	16: 5,077,313	E741G	probably damaging	Het
Urad	T	A	5: 147,315,454	I63F	probably damaging	Het
Vcan	T	C	13: 89,704,739	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,837,215	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,411,585	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,241,725	R478*	probably null	Het
Znfx1	A	C	2: 167,055,269	F578L	probably benign	Het

Other mutations in Ankle2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Ankle2	APN	5	110234352	missense	probably benign	0.01
IGL03030:Ankle2	APN	5	110251610	missense	possibly damaging	0.93
R0107:Ankle2	UTSW	5	110253027	missense	probably benign
R0219:Ankle2	UTSW	5	110251645	nonsense	probably null
R0288:Ankle2	UTSW	5	110236390	missense	probably damaging	0.96
R0511:Ankle2	UTSW	5	110242059	splice site	probably benign
R1343:Ankle2	UTSW	5	110237966	missense	probably damaging	1.00
R2079:Ankle2	UTSW	5	110244505	missense	probably damaging	1.00
R3954:Ankle2	UTSW	5	110251675	missense	probably benign	0.00
R4161:Ankle2	UTSW	5	110234368	missense	probably benign	0.06
R4196:Ankle2	UTSW	5	110244543	missense	possibly damaging	0.81
R4613:Ankle2	UTSW	5	110231379	missense	probably benign
R4830:Ankle2	UTSW	5	110242013	missense	probably damaging	1.00
R4946:Ankle2	UTSW	5	110253838	missense	probably benign	0.06
R5537:Ankle2	UTSW	5	110249495	missense	probably damaging	1.00
R5798:Ankle2	UTSW	5	110251535	missense	probably damaging	1.00
R5809:Ankle2	UTSW	5	110237990	missense	probably damaging	0.99
R6434:Ankle2	UTSW	5	110253893	missense	probably damaging	1.00
R6825:Ankle2	UTSW	5	110250769	missense	probably null	0.78
R7264:Ankle2	UTSW	5	110237823	missense	probably damaging	1.00
R7296:Ankle2	UTSW	5	110237724	missense	probably damaging	1.00
R7318:Ankle2	UTSW	5	110237766	missense	probably benign	0.19
R7429:Ankle2	UTSW	5	110234518	missense	possibly damaging	0.86
R8035:Ankle2	UTSW	5	110254452	missense	probably damaging	1.00
R8079:Ankle2	UTSW	5	110231316	missense	probably damaging	1.00
R8257:Ankle2	UTSW	5	110253915	critical splice donor site	probably null
R8348:Ankle2	UTSW	5	110242043	missense	possibly damaging	0.68
R8448:Ankle2	UTSW	5	110242043	missense	possibly damaging	0.68
R8478:Ankle2	UTSW	5	110252952	missense	possibly damaging	0.92
X0026:Ankle2	UTSW	5	110253120	missense	probably benign	0.01
X0065:Ankle2	UTSW	5	110236357	missense	probably damaging	0.99
Z1176:Ankle2	UTSW	5	110234499	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AGTCACTTGCTATGTCAGAGTAACTC -3'
(R):5'- TGAGGTTCTGTCCTGAAGGC -3'

Sequencing Primer
(F):5'- GCTATGTCAGAGTAACTCCTCAAAGG -3'
(R):5'- AAGGCAGCCTTCATTTTCTCG -3'

Posted On

2016-03-17