Mutagenetix > Incidental Mutation

Incidental Mutation 'R0219:Ankle2'

33718

Institutional Source

Beutler Lab

Gene Symbol

Ankle2

Ensembl Gene

ENSMUSG00000029501

Gene Name

ankyrin repeat and LEM domain containing 2

Synonyms

1110001J12Rik, D5Ertd585e

MMRRC Submission

038468-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R0219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110378870-110404517 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 110399511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 624 (R624*)

Ref Sequence

ENSEMBL: ENSMUSP00000143044 (fasta)

Gene Model

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

AlphaFold

Q6P1H6

Predicted Effect

probably null
Transcript: ENSMUST00000031474
AA Change: R623*

SMART Domains

Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: R623*

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
AA Change: R624*

SMART Domains

Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: R624*

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
AA Change: R624*

SMART Domains

Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: R624*

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.3%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,849,885 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,371,005 (GRCm39)	M1749K	possibly damaging	Het
Aff1	GCTCTCTCTC	GCTCTCTCTCTC	5: 103,958,906 (GRCm39)		probably benign	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Brca2	A	G	5: 150,446,640 (GRCm39)		probably benign	Het
Ccdc116	T	A	16: 16,959,476 (GRCm39)	R404S	possibly damaging	Het
Ccdc171	A	G	4: 83,614,678 (GRCm39)		probably benign	Het
Ccdc80	A	G	16: 44,916,846 (GRCm39)	K534R	probably damaging	Het
Ccna1	T	C	3: 54,958,348 (GRCm39)	I112V	probably benign	Het
Cdhr1	A	C	14: 36,801,558 (GRCm39)	L795R	possibly damaging	Het
Cilp	C	A	9: 65,176,872 (GRCm39)	L43I	possibly damaging	Het
Dclk2	T	C	3: 86,720,976 (GRCm39)		probably benign	Het
Ddx59	C	A	1: 136,360,047 (GRCm39)		probably benign	Het
Dgkd	T	C	1: 87,865,996 (GRCm39)		probably benign	Het
Dicer1	A	G	12: 104,658,384 (GRCm39)		probably null	Het
Dst	T	G	1: 34,342,559 (GRCm39)	S5030A	probably damaging	Het
Dysf	G	A	6: 84,106,443 (GRCm39)		probably benign	Het
Farp1	C	A	14: 121,481,012 (GRCm39)	P471Q	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fcer1g	A	G	1: 171,058,795 (GRCm39)	V31A	possibly damaging	Het
Glb1l2	A	G	9: 26,717,618 (GRCm39)	V21A	probably benign	Het
Gm9912	T	C	3: 148,891,131 (GRCm39)	I1V	unknown	Het
Guf1	G	A	5: 69,716,929 (GRCm39)	A164T	probably damaging	Het
Hbb-bs	T	C	7: 103,475,876 (GRCm39)	H147R	possibly damaging	Het
Hnrnpr	T	A	4: 136,066,474 (GRCm39)		probably benign	Het
Iglon5	A	T	7: 43,126,261 (GRCm39)	V214E	probably damaging	Het
Isx	C	A	8: 75,616,589 (GRCm39)		probably null	Het
Kank4	T	C	4: 98,666,702 (GRCm39)	N582D	probably benign	Het
Kcp	T	A	6: 29,495,784 (GRCm39)	R773W	probably damaging	Het
Kdm4c	T	C	4: 74,291,857 (GRCm39)	C825R	probably damaging	Het
Krt25	G	A	11: 99,208,885 (GRCm39)	T315M	probably benign	Het
Lrp5	A	T	19: 3,647,349 (GRCm39)	S1298T	probably damaging	Het
Map3k10	T	C	7: 27,356,156 (GRCm39)	D921G	probably damaging	Het
Mrgprx1	C	A	7: 47,671,294 (GRCm39)	W151L	probably damaging	Het
Mylk3	T	A	8: 86,081,873 (GRCm39)	D375V	probably damaging	Het
Nav3	C	T	10: 109,702,791 (GRCm39)		probably null	Het
Ncan	A	G	8: 70,567,984 (GRCm39)	S43P	probably benign	Het
Necab3	G	T	2: 154,388,013 (GRCm39)	Q292K	probably benign	Het
Nptx2	T	C	5: 144,484,950 (GRCm39)	S148P	probably damaging	Het
Or2at4	A	T	7: 99,385,135 (GRCm39)	I262L	probably benign	Het
Or6p1	G	A	1: 174,258,032 (GRCm39)	V13I	probably benign	Het
Pde6a	A	G	18: 61,419,006 (GRCm39)	E794G	possibly damaging	Het
Pus7	T	C	5: 23,980,964 (GRCm39)	Y133C	possibly damaging	Het
Rad21l	A	G	2: 151,496,508 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,712,603 (GRCm39)		probably benign	Het
Sart1	C	A	19: 5,438,424 (GRCm39)	A78S	probably benign	Het
Shkbp1	T	C	7: 27,051,486 (GRCm39)	E191G	probably benign	Het
Slc6a18	A	T	13: 73,822,751 (GRCm39)		probably null	Het
Stxbp5	T	C	10: 9,646,272 (GRCm39)	T147A	probably benign	Het
Sv2b	A	G	7: 74,807,015 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,088,778 (GRCm39)	K5045N	probably damaging	Het
Tmem174	A	C	13: 98,773,347 (GRCm39)	M161R	possibly damaging	Het
Tmprss7	A	G	16: 45,476,820 (GRCm39)	V814A	probably damaging	Het
Togaram2	T	C	17: 72,021,225 (GRCm39)		probably benign	Het
Tpr	T	C	1: 150,319,009 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,730,572 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,157,568 (GRCm39)	L2375Q	possibly damaging	Het
Utp20	T	C	10: 88,600,537 (GRCm39)	E1987G	probably damaging	Het
Utrn	T	C	10: 12,560,195 (GRCm39)	T1365A	probably damaging	Het
Vmn2r116	T	A	17: 23,605,072 (GRCm39)	Y128*	probably null	Het
Vmn2r5	A	G	3: 64,411,734 (GRCm39)	V278A	probably damaging	Het
Vps13d	C	T	4: 144,832,479 (GRCm39)	S2809N	probably benign	Het
Zfp212	G	A	6: 47,903,619 (GRCm39)	R68H	probably damaging	Het
Zfp442	A	T	2: 150,253,160 (GRCm39)	L33Q	probably damaging	Het
Zfp629	T	C	7: 127,211,255 (GRCm39)	S185G	probably damaging	Het
Zfp738	A	G	13: 67,831,508 (GRCm39)		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
IGL03030:Ankle2	APN	5	110,399,476 (GRCm39)	missense	possibly damaging	0.93
R0107:Ankle2	UTSW	5	110,400,893 (GRCm39)	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- ACATGAGGGAATGCCCCAAATTAGG -3'
(R):5'- GCGTACAAGTGCTCCAGACACATAG -3'

Sequencing Primer
(F):5'- GGggtttggtttggtttgg -3'
(R):5'- GTGCTCCAGACACATAGAGCTG -3'

Posted On

2013-05-09