Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Ankle2'

408407

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

110378870-110404517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110399476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 611 (Q611R)

Ref Sequence

ENSEMBL: ENSMUSP00000031474 (fasta)

Gene Model

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

AlphaFold

Q6P1H6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031474
AA Change: Q611R

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: Q611R

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: Q612R

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: Q612R

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

possibly damaging
Transcript: ENSMUST00000197188
AA Change: Q612R

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: Q612R

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

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,145,057 (GRCm39)	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,904,104 (GRCm39)	S200R	possibly damaging	Het
Adam29	T	C	8: 56,326,100 (GRCm39)	D118G	probably damaging	Het
Adh4	A	G	3: 138,134,906 (GRCm39)	D360G	probably benign	Het
Ankra2	C	T	13: 98,409,881 (GRCm39)		probably benign	Het
Ap1g2	T	A	14: 55,343,504 (GRCm39)	I28F	probably damaging	Het
Baz2a	C	T	10: 127,961,015 (GRCm39)	T1608I	possibly damaging	Het
Cacnb4	T	C	2: 52,364,894 (GRCm39)	D123G	probably damaging	Het
Cage1	G	A	13: 38,212,123 (GRCm39)	T51M	probably benign	Het
Ccdc63	A	G	5: 122,260,876 (GRCm39)	V216A	probably benign	Het
Ccnd2	A	G	6: 127,125,841 (GRCm39)	V65A	probably damaging	Het
Cfap20dc	A	G	14: 8,511,113 (GRCm38)	S434P	probably damaging	Het
Chd3	T	A	11: 69,245,230 (GRCm39)	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,823 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,241 (GRCm39)	N813K	possibly damaging	Het
Cog5	G	A	12: 31,840,921 (GRCm39)	V249M	probably damaging	Het
Cps1	A	G	1: 67,182,080 (GRCm39)	N98S	probably damaging	Het
Cracd	A	G	5: 77,005,463 (GRCm39)	D608G	unknown	Het
D630045J12Rik	A	T	6: 38,126,648 (GRCm39)	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,136,237 (GRCm39)	V603A	possibly damaging	Het
F12	A	G	13: 55,569,332 (GRCm39)		probably benign	Het
Ficd	G	A	5: 113,874,990 (GRCm39)	V20I	probably benign	Het
Gatad2b	G	T	3: 90,249,244 (GRCm39)	G94V	probably benign	Het
Gm4845	G	A	1: 141,184,403 (GRCm39)		noncoding transcript	Het
Hrnr	G	A	3: 93,227,908 (GRCm39)	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,829,040 (GRCm39)	S584P	probably damaging	Het
Klk1b24	C	A	7: 43,840,790 (GRCm39)	Q73K	probably benign	Het
Lrp10	C	A	14: 54,706,619 (GRCm39)	N518K	possibly damaging	Het
Lsr	A	G	7: 30,658,706 (GRCm39)	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,748,862 (GRCm39)	M1K	probably null	Het
Mprip	T	A	11: 59,631,941 (GRCm39)		probably null	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Oprd1	A	G	4: 131,844,696 (GRCm39)	F104S	possibly damaging	Het
Or1l4	T	C	2: 37,091,883 (GRCm39)	V210A	probably benign	Het
Or2g1	T	A	17: 38,107,162 (GRCm39)	Y276N	probably damaging	Het
Or4b1d	A	T	2: 89,969,006 (GRCm39)	I159N	possibly damaging	Het
Or5ar1	T	C	2: 85,671,416 (GRCm39)	T240A	probably damaging	Het
Or5b109	C	T	19: 13,212,418 (GRCm39)	S268L	probably damaging	Het
Palb2	A	G	7: 121,712,479 (GRCm39)	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,623,786 (GRCm39)	D372V	probably damaging	Het
Phc3	A	G	3: 30,991,002 (GRCm39)	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,513,796 (GRCm39)		probably benign	Het
Pik3ip1	A	G	11: 3,283,259 (GRCm39)	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,455,372 (GRCm39)	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,460,298 (GRCm39)	V4169A	probably benign	Het
Pklr	A	T	3: 89,049,963 (GRCm39)	I313F	probably damaging	Het
Plxna4	T	A	6: 32,179,160 (GRCm39)	T952S	probably benign	Het
Pop4	A	T	7: 37,962,730 (GRCm39)	I178N	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Prss40	A	C	1: 34,597,182 (GRCm39)	V122G	probably damaging	Het
Rapgef2	C	A	3: 78,981,614 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,269,311 (GRCm39)	D538G	probably damaging	Het
Rnf44	G	A	13: 54,829,803 (GRCm39)	R312*	probably null	Het
Rock1	T	C	18: 10,070,215 (GRCm39)		probably benign	Het
Rrp1b	A	G	17: 32,275,875 (GRCm39)	E474G	probably damaging	Het
Ryr2	T	A	13: 11,699,365 (GRCm39)	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,850,803 (GRCm39)	S801P	probably damaging	Het
Skint6	T	C	4: 112,870,153 (GRCm39)	I602V	probably benign	Het
Slc6a19	C	A	13: 73,848,590 (GRCm39)	V55L	probably damaging	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Trappc11	C	A	8: 47,966,964 (GRCm39)	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,507,108 (GRCm39)	W75*	probably null	Het
Vmn2r52	A	G	7: 9,892,799 (GRCm39)	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,217,149 (GRCm39)	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,084,049 (GRCm39)	K74M	probably damaging	Het
Wrn	T	A	8: 33,738,989 (GRCm39)	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,799,819 (GRCm39)	T82A	probably benign	Het
Zfp82	T	C	7: 29,756,890 (GRCm39)	E64G	probably benign	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
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
R8448: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

Posted On

2016-08-02