Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Ankle2'

629195

Institutional Source

Beutler Lab

Gene Symbol

Ankle2

Ensembl Gene

ENSMUSG00000029501

Gene Name

ankyrin repeat and LEM domain containing 2

Synonyms

1110001J12Rik, D5Ertd585e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R8079 (G1)

Quality Score

169.009

Status

Not validated

Chromosome

Chromosomal Location

110231004-110256651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110231316 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 27 (A27V)

Ref Sequence

ENSEMBL: ENSMUSP00000143044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031474] [ENSMUST00000086674] [ENSMUST00000112512] [ENSMUST00000197188]

AlphaFold

Q6P1H6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031474
AA Change: A27V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: A27V

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 damaging
Transcript: ENSMUST00000086674
AA Change: A27V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: A27V

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

probably benign
Transcript: ENSMUST00000112512

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502

Domain	Start	End	E-Value	Type
internal_repeat_2	3	24	9.29e-5	PROSPERO
low complexity region	192	205	N/A	INTRINSIC
low complexity region	229	248	N/A	INTRINSIC
low complexity region	272	281	N/A	INTRINSIC
low complexity region	322	335	N/A	INTRINSIC
low complexity region	382	401	N/A	INTRINSIC
internal_repeat_1	404	444	4.91e-5	PROSPERO
low complexity region	494	508	N/A	INTRINSIC
internal_repeat_1	547	584	4.91e-5	PROSPERO
low complexity region	705	717	N/A	INTRINSIC
low complexity region	792	809	N/A	INTRINSIC
low complexity region	1105	1117	N/A	INTRINSIC
low complexity region	1220	1228	N/A	INTRINSIC
low complexity region	1312	1330	N/A	INTRINSIC
internal_repeat_2	1333	1359	9.29e-5	PROSPERO
coiled coil region	1377	1413	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197188
AA Change: A27V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: A27V

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,083,123	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,182,224		probably null	Het
Akap10	G	A	11: 61,930,054	P8L	possibly damaging	Het
Anxa8	A	G	14: 34,094,812	T246A	probably benign	Het
Arhgap5	A	G	12: 52,567,205	N1460S	probably benign	Het
Arid5b	T	G	10: 68,098,356	D572A	possibly damaging	Het
Atrn	T	A	2: 131,013,641	L1278Q	probably null	Het
AU040320	G	T	4: 126,832,160	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,900,768	R2085W	probably damaging	Het
Bbx	A	T	16: 50,210,458	N649K	probably damaging	Het
BC034090	G	A	1: 155,225,286	P411S	probably damaging	Het
Calcoco2	A	T	11: 96,107,537	F20Y	probably damaging	Het
Carmil2	A	G	8: 105,686,761	R50G	probably damaging	Het
Catspere2	A	G	1: 178,046,959	T131A	probably benign	Het
Cdcp1	C	A	9: 123,173,790	V739L	probably damaging	Het
Chit1	A	G	1: 134,144,027	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,459,804	I185T	probably damaging	Het
Dctpp1	C	A	7: 127,259,389	V61L	probably damaging	Het
Dip2a	T	C	10: 76,287,321	T760A	probably benign	Het
Dock10	C	T	1: 80,578,704	V552I	probably benign	Het
Dpcr1	T	C	17: 35,638,192	T172A	unknown	Het
Dpp8	A	G	9: 65,043,735	E151G	probably damaging	Het
Dvl2	G	C	11: 70,007,518	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,796,361	I539N	probably damaging	Het
Frat2	A	T	19: 41,847,838	L25H	probably damaging	Het
Garnl3	A	T	2: 33,018,499		probably null	Het
Gh	T	C	11: 106,301,427	H47R	possibly damaging	Het
Glmp	T	C	3: 88,325,738	V61A	probably damaging	Het
Gm6614	T	G	6: 141,987,734	M462L	probably benign	Het
Gm9925	T	C	18: 74,065,487	V129A	unknown	Het
H2-M9	T	A	17: 36,642,133	E94V	probably benign	Het
Hira	A	T	16: 18,925,757	Q408L	probably benign	Het
Hook3	A	G	8: 26,088,058		probably null	Het
Ifi206	G	A	1: 173,481,158	P424L		Het
Impdh2	T	C	9: 108,563,325	V270A	probably benign	Het
Klhl14	A	G	18: 21,651,965	I135T	probably benign	Het
Klra10	C	A	6: 130,275,775	V179L	probably benign	Het
Kmt2c	T	C	5: 25,302,732	S3236G	probably damaging	Het
Krt76	G	T	15: 101,888,390	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,029,552	G424C	probably damaging	Het
Limch1	A	G	5: 67,046,753	I878V	possibly damaging	Het
Lipi	C	T	16: 75,565,530		probably null	Het
Lrrc17	C	T	5: 21,561,071	R184W	probably damaging	Het
Mllt10	A	G	2: 18,123,756	N183D	probably damaging	Het
Mterf2	C	T	10: 85,120,163	G199D	probably damaging	Het
Nat8f4	A	T	6: 85,900,994	S182R	probably benign	Het
Ndrg3	C	A	2: 156,937,532	E238*	probably null	Het
Nop14	A	T	5: 34,654,461	L194H	probably damaging	Het
Obscn	T	C	11: 59,081,905	E2105G	possibly damaging	Het
Olfr1009	A	T	2: 85,722,043	T213S	probably benign	Het
Olfr1079	T	A	2: 86,538,381	H176L	possibly damaging	Het
Olfr1457	A	C	19: 13,095,284	Y121*	probably null	Het
Olfr829	A	T	9: 18,857,429	Y259F	possibly damaging	Het
Pbx3	C	T	2: 34,178,228	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,146,144	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,690,763	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,045,832	S257T	probably damaging	Het
Pclo	A	T	5: 14,540,458	H924L	unknown	Het
Per3	T	A	4: 151,042,678	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,303,060	M1270K		Het
Plec	G	A	15: 76,179,550	Q2277*	probably null	Het
Pnma1	T	A	12: 84,147,335	K198M	probably damaging	Het
Prc1	T	A	7: 80,304,767	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,357,505	T57A	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Robo4	A	G	9: 37,402,635	M61V	possibly damaging	Het
Rps12	C	T	10: 23,785,677	V79I	probably benign	Het
Rsph3a	A	G	17: 7,979,188	K466E	probably benign	Het
Scly	A	T	1: 91,308,367	I168F	probably damaging	Het
Setd1a	T	A	7: 127,785,053	F359I	unknown	Het
Sh3tc1	A	G	5: 35,706,857	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,992,452	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,473,455	R13Q	unknown	Het
Smarcad1	A	G	6: 65,052,782	D118G	possibly damaging	Het
Sos2	T	C	12: 69,607,215	T788A	probably damaging	Het
Syvn1	A	G	19: 6,048,366	E75G	probably null	Het
Thpo	T	C	16: 20,726,394	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,744,736	E78V	possibly damaging	Het
Uap1	A	G	1: 170,158,763	S217P	probably damaging	Het
Unc45a	T	G	7: 80,331,562	R497S	probably damaging	Het
Upf1	A	G	8: 70,338,884		probably null	Het
Usp47	A	T	7: 112,046,970	K28M	probably damaging	Het
Wdr72	A	C	9: 74,218,772	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,537,445	C339S	probably damaging	Het
Zfp954	G	T	7: 7,115,471	T358K	probably benign	Het
Zmynd15	G	T	11: 70,459,452		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
R4870:Ankle2	UTSW	5	110251478	splice site	probably null
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
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
R8957:Ankle2	UTSW	5	110231255	missense	possibly damaging	0.95
R9186:Ankle2	UTSW	5	110252744	missense	possibly damaging	0.94
R9187:Ankle2	UTSW	5	110252744	missense	possibly damaging	0.94
R9188:Ankle2	UTSW	5	110252744	missense	possibly damaging	0.94
R9189:Ankle2	UTSW	5	110252744	missense	possibly damaging	0.94
R9617:Ankle2	UTSW	5	110251543	missense	probably damaging	1.00
R9651:Ankle2	UTSW	5	110237795	missense	probably benign	0.04
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'- AGCCTGATCGTTGGGAAACG -3'
(R):5'- ATAGGGTCTTACCGTATCCAGGG -3'

Sequencing Primer
(F):5'- AGCCCGCCTGGTCTAAC -3'
(R):5'- CGTATCCAGGGGGCGTG -3'

Posted On

2020-06-30