Mutagenetix > Incidental Mutation

Incidental Mutation 'R8448:Ankle2'

654594

Institutional Source

Beutler Lab

Gene Symbol

Ankle2

Ensembl Gene

ENSMUSG00000029501

Gene Name

ankyrin repeat and LEM domain containing 2

Synonyms

1110001J12Rik, D5Ertd585e

MMRRC Submission

067828-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R8448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110378870-110404517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110389909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 457 (P457T)

Ref Sequence

ENSEMBL: ENSMUSP00000143044 (fasta)

Gene Model

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

AlphaFold

Q6P1H6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031474
AA Change: P456T

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: P456T

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

possibly damaging
Transcript: ENSMUST00000086674
AA Change: P457T

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: P457T

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

possibly damaging
Transcript: ENSMUST00000197188
AA Change: P457T

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: P457T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,461,022 (GRCm39)		probably null	Het
Adamts6	T	A	13: 104,616,027 (GRCm39)	C1030S	probably damaging	Het
Adamtsl3	C	A	7: 82,253,007 (GRCm39)	T1527K	possibly damaging	Het
Akap9	G	A	5: 3,998,897 (GRCm39)		probably null	Het
Ankrd7	A	G	6: 18,868,007 (GRCm39)	N91S	probably damaging	Het
Ascc3	C	A	10: 50,494,173 (GRCm39)	Q203K	probably benign	Het
Baz2b	A	T	2: 59,742,137 (GRCm39)	D61E		Het
Bmpr1a	T	A	14: 34,136,759 (GRCm39)	K477N	probably benign	Het
Cacna1d	T	C	14: 29,824,364 (GRCm39)	I1040V	probably damaging	Het
Castor2	T	C	5: 134,166,955 (GRCm39)	F304L	possibly damaging	Het
Cdkn2a	C	A	4: 89,200,291 (GRCm39)	V20L	possibly damaging	Het
Chd5	A	G	4: 152,445,173 (GRCm39)	S385G	probably damaging	Het
Cntrob	A	G	11: 69,190,679 (GRCm39)	F46L	unknown	Het
Cth	T	C	3: 157,630,657 (GRCm39)	D4G	probably benign	Het
Cyld	C	T	8: 89,456,197 (GRCm39)	H416Y	probably damaging	Het
Dennd6a	C	A	14: 26,328,098 (GRCm39)	H264Q	possibly damaging	Het
Dnah1	T	C	14: 31,015,682 (GRCm39)	Y1672C	probably damaging	Het
Dnah8	A	G	17: 30,892,814 (GRCm39)	I800V	probably benign	Het
Esrp2	A	G	8: 106,858,853 (GRCm39)	Y595H	probably damaging	Het
F12	T	A	13: 55,566,301 (GRCm39)	Y497F	probably benign	Het
Fggy	A	G	4: 95,732,427 (GRCm39)	T473A	probably benign	Het
Garre1	A	T	7: 33,984,569 (GRCm39)	L18Q	probably damaging	Het
Gstt2	C	A	10: 75,668,526 (GRCm39)	R107L	probably damaging	Het
Hectd4	A	T	5: 121,358,319 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,938,791 (GRCm39)	F561S	probably damaging	Het
Ints2	T	C	11: 86,146,249 (GRCm39)	T120A	probably benign	Het
Kdm5d	G	A	Y: 914,056 (GRCm39)	R331H	probably benign	Het
Krt6b	A	G	15: 101,586,455 (GRCm39)	Y345H	probably damaging	Het
Limch1	A	G	5: 67,159,825 (GRCm39)	K418E	probably damaging	Het
Lrrc37	T	A	11: 103,511,726 (GRCm39)	T81S	unknown	Het
Med17	C	T	9: 15,173,735 (GRCm39)		probably null	Het
Met	A	T	6: 17,571,799 (GRCm39)	I1373F	probably benign	Het
Naip6	T	A	13: 100,436,894 (GRCm39)	Q543L	possibly damaging	Het
Nat9	T	C	11: 115,075,902 (GRCm39)	T40A	probably damaging	Het
Notch4	A	T	17: 34,805,763 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,292,619 (GRCm39)	N455S	probably damaging	Het
Or52k2	C	A	7: 102,254,207 (GRCm39)	F215L	probably benign	Het
Pde4a	T	C	9: 21,117,534 (GRCm39)	F599L	probably benign	Het
Pga5	T	C	19: 10,649,173 (GRCm39)	Y249C	probably damaging	Het
Plekha8	A	T	6: 54,607,539 (GRCm39)	K382M	probably damaging	Het
Plekhd1	A	T	12: 80,753,149 (GRCm39)	E119V	probably damaging	Het
Pnp	A	T	14: 51,185,356 (GRCm39)	H20L	probably benign	Het
Polq	A	T	16: 36,837,559 (GRCm39)		probably null	Het
Psma3	T	G	12: 71,035,250 (GRCm39)	I177R	probably damaging	Het
Ptpn3	A	G	4: 57,240,784 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,400,806 (GRCm39)	L1077Q	probably damaging	Het
Ralgps2	A	T	1: 156,651,744 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,184,573 (GRCm39)	M10K	possibly damaging	Het
Rere	A	G	4: 150,703,653 (GRCm39)	D186G	probably damaging	Het
Rpl24	T	C	16: 55,787,453 (GRCm39)	S38P	probably damaging	Het
Slco1a1	A	T	6: 141,885,787 (GRCm39)	F79L	possibly damaging	Het
Sorl1	T	A	9: 41,903,041 (GRCm39)	D1551V	probably benign	Het
Sos1	C	A	17: 80,741,548 (GRCm39)	M412I	probably benign	Het
Spast	G	A	17: 74,666,293 (GRCm39)	V209I	probably benign	Het
Spindoc	G	T	19: 7,335,769 (GRCm39)	Q340K	possibly damaging	Het
Tlr6	T	C	5: 65,111,185 (GRCm39)	Y574C	probably damaging	Het
Tnrc6a	A	G	7: 122,791,346 (GRCm39)	N1748S	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,474 (GRCm39)	K16N	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Usp24	A	G	4: 106,225,933 (GRCm39)	D659G	possibly damaging	Het
Vmn2r88	T	A	14: 51,656,253 (GRCm39)	C821S	probably damaging	Het
Whamm	T	A	7: 81,224,295 (GRCm39)	V197D	probably damaging	Het
Zfp777	A	G	6: 48,006,101 (GRCm39)	F431S	probably damaging	Het

Other mutations in Ankle2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Ankle2	APN	5	110,382,218 (GRCm39)	missense	probably benign	0.01
IGL03030:Ankle2	APN	5	110,399,476 (GRCm39)	missense	possibly damaging	0.93
R0107:Ankle2	UTSW	5	110,400,893 (GRCm39)	missense	probably benign
R0219:Ankle2	UTSW	5	110,399,511 (GRCm39)	nonsense	probably null
R0288:Ankle2	UTSW	5	110,384,256 (GRCm39)	missense	probably damaging	0.96
R0511:Ankle2	UTSW	5	110,389,925 (GRCm39)	splice site	probably benign
R1343:Ankle2	UTSW	5	110,385,832 (GRCm39)	missense	probably damaging	1.00
R2079:Ankle2	UTSW	5	110,392,371 (GRCm39)	missense	probably damaging	1.00
R3954:Ankle2	UTSW	5	110,399,541 (GRCm39)	missense	probably benign	0.00
R4161:Ankle2	UTSW	5	110,382,234 (GRCm39)	missense	probably benign	0.06
R4196:Ankle2	UTSW	5	110,392,409 (GRCm39)	missense	possibly damaging	0.81
R4613:Ankle2	UTSW	5	110,379,245 (GRCm39)	missense	probably benign
R4830:Ankle2	UTSW	5	110,389,879 (GRCm39)	missense	probably damaging	1.00
R4870:Ankle2	UTSW	5	110,399,344 (GRCm39)	splice site	probably null
R4946:Ankle2	UTSW	5	110,401,704 (GRCm39)	missense	probably benign	0.06
R5537:Ankle2	UTSW	5	110,397,361 (GRCm39)	missense	probably damaging	1.00
R5798:Ankle2	UTSW	5	110,399,401 (GRCm39)	missense	probably damaging	1.00
R5809:Ankle2	UTSW	5	110,385,856 (GRCm39)	missense	probably damaging	0.99
R6434:Ankle2	UTSW	5	110,401,759 (GRCm39)	missense	probably damaging	1.00
R6825:Ankle2	UTSW	5	110,398,635 (GRCm39)	missense	probably null	0.78
R7264:Ankle2	UTSW	5	110,385,689 (GRCm39)	missense	probably damaging	1.00
R7296:Ankle2	UTSW	5	110,385,590 (GRCm39)	missense	probably damaging	1.00
R7318:Ankle2	UTSW	5	110,385,632 (GRCm39)	missense	probably benign	0.19
R7429:Ankle2	UTSW	5	110,382,384 (GRCm39)	missense	possibly damaging	0.86
R8035:Ankle2	UTSW	5	110,402,318 (GRCm39)	missense	probably damaging	1.00
R8079:Ankle2	UTSW	5	110,379,182 (GRCm39)	missense	probably damaging	1.00
R8257:Ankle2	UTSW	5	110,401,781 (GRCm39)	critical splice donor site	probably null
R8348:Ankle2	UTSW	5	110,389,909 (GRCm39)	missense	possibly damaging	0.68
R8478:Ankle2	UTSW	5	110,400,818 (GRCm39)	missense	possibly damaging	0.92
R8957:Ankle2	UTSW	5	110,379,121 (GRCm39)	missense	possibly damaging	0.95
R9186:Ankle2	UTSW	5	110,400,610 (GRCm39)	missense	possibly damaging	0.94
R9187:Ankle2	UTSW	5	110,400,610 (GRCm39)	missense	possibly damaging	0.94
R9188:Ankle2	UTSW	5	110,400,610 (GRCm39)	missense	possibly damaging	0.94
R9189:Ankle2	UTSW	5	110,400,610 (GRCm39)	missense	possibly damaging	0.94
R9617:Ankle2	UTSW	5	110,399,409 (GRCm39)	missense	probably damaging	1.00
R9651:Ankle2	UTSW	5	110,385,661 (GRCm39)	missense	probably benign	0.04
X0026:Ankle2	UTSW	5	110,400,986 (GRCm39)	missense	probably benign	0.01
X0065:Ankle2	UTSW	5	110,384,223 (GRCm39)	missense	probably damaging	0.99
Z1176:Ankle2	UTSW	5	110,382,365 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AAACACCTACTTTCACTGTTTCATG -3'
(R):5'- ACAACTGATGTCCAGATTCAGGAAAG -3'

Sequencing Primer
(F):5'- GGCTTTGATACACCACTG -3'
(R):5'- AGCAAGACTGGGTTAGCTCCTTC -3'

Posted On

2020-10-20