Mutagenetix > Incidental Mutation

Incidental Mutation 'R7296:Ankle2'

571611

Institutional Source

Beutler Lab

Gene Symbol

Ankle2

Ensembl Gene

ENSMUSG00000029501

Gene Name

ankyrin repeat and LEM domain containing 2

Synonyms

1110001J12Rik, D5Ertd585e

MMRRC Submission

045400-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R7296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110378870-110404517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110385590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 313 (R313H)

Ref Sequence

ENSEMBL: ENSMUSP00000143044 (fasta)

Gene Model

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

AlphaFold

Q6P1H6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031474
AA Change: R312H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: R312H

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: R313H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: R313H

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 damaging
Transcript: ENSMUST00000197188
AA Change: R313H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: R313H

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: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,302 (GRCm39)	M226K	probably benign	Het
4921524L21Rik	T	G	18: 6,626,385 (GRCm39)	S132R	probably damaging	Het
A4gnt	T	G	9: 99,502,335 (GRCm39)	I165S	probably damaging	Het
Abca14	G	A	7: 119,877,534 (GRCm39)	D1061N	probably benign	Het
Abcc9	G	A	6: 142,617,319 (GRCm39)	P582S	probably damaging	Het
Abhd5	G	A	9: 122,208,638 (GRCm39)	V343I	probably benign	Het
Adam6a	C	T	12: 113,509,192 (GRCm39)	R522C	probably damaging	Het
Aplf	G	A	6: 87,623,197 (GRCm39)	T315I	probably damaging	Het
Asic5	C	T	3: 81,928,383 (GRCm39)	P491S	probably benign	Het
Atp5f1b	T	C	10: 127,921,391 (GRCm39)	Y230H	probably benign	Het
B4galt6	A	T	18: 20,861,099 (GRCm39)	I51N	probably damaging	Het
Bmal2	G	A	6: 146,723,632 (GRCm39)	V321I	not run	Het
C4b	A	G	17: 34,962,633 (GRCm39)	L23S	probably damaging	Het
Cables2	A	G	2: 179,902,129 (GRCm39)	V410A		Het
Ccdc168	T	A	1: 44,100,076 (GRCm39)	K341*	probably null	Het
Cdyl	A	G	13: 36,047,378 (GRCm39)	M489V	probably damaging	Het
Clip4	T	C	17: 72,096,996 (GRCm39)	M40T	probably damaging	Het
Col12a1	T	C	9: 79,589,348 (GRCm39)	Y1069C	probably damaging	Het
Col6a3	T	C	1: 90,755,708 (GRCm39)	M194V	probably benign	Het
Colec11	T	A	12: 28,644,714 (GRCm39)	D260V	probably damaging	Het
Cracdl	T	C	1: 37,653,699 (GRCm39)	T1036A	possibly damaging	Het
Cux2	T	C	5: 121,999,319 (GRCm39)	D1207G	probably benign	Het
Cyp2d34	G	T	15: 82,501,436 (GRCm39)	N297K	possibly damaging	Het
Dmbt1	A	G	7: 130,713,861 (GRCm39)	Y1643C	unknown	Het
Dnmt3c	A	G	2: 153,556,946 (GRCm39)	T288A	probably benign	Het
Dock8	T	A	19: 25,162,245 (GRCm39)	F1842I	probably benign	Het
Dysf	A	G	6: 84,083,880 (GRCm39)	I740V	probably benign	Het
Epha6	T	A	16: 59,736,201 (GRCm39)	M778L	probably benign	Het
Eri2	A	T	7: 119,385,739 (GRCm39)	L254*	probably null	Het
Fam43b	A	G	4: 138,123,152 (GRCm39)	F56S	probably damaging	Het
Fat4	C	A	3: 38,943,294 (GRCm39)	S729*	probably null	Het
Fbxw22	C	A	9: 109,211,143 (GRCm39)	W386L	probably benign	Het
Fgd6	T	A	10: 93,879,909 (GRCm39)	C254*	probably null	Het
Fgd6	C	A	10: 93,975,743 (GRCm39)	T1386K	probably benign	Het
Fkbp7	G	T	2: 76,502,108 (GRCm39)	D98E	possibly damaging	Het
Hectd1	C	T	12: 51,832,635 (GRCm39)	C913Y	possibly damaging	Het
Hgf	T	A	5: 16,769,841 (GRCm39)	M105K	probably benign	Het
Icam1	A	C	9: 20,930,311 (GRCm39)	D55A	probably benign	Het
Itga2	A	C	13: 114,993,930 (GRCm39)		probably null	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Klra17	T	A	6: 129,808,555 (GRCm39)	N226I	possibly damaging	Het
Krt1	T	A	15: 101,759,064 (GRCm39)	R33S	unknown	Het
L3mbtl3	T	A	10: 26,158,728 (GRCm39)	D615V	unknown	Het
Lrp2	T	A	2: 69,312,725 (GRCm39)	Y2521F	probably benign	Het
Megf10	A	T	18: 57,408,825 (GRCm39)	N589I	probably damaging	Het
Metap1d	G	C	2: 71,337,129 (GRCm39)	G14A	probably benign	Het
Mfap5	T	A	6: 122,505,381 (GRCm39)	D162E	probably benign	Het
Mixl1	T	C	1: 180,524,523 (GRCm39)	I19V	probably benign	Het
Mtrr	G	T	13: 68,716,979 (GRCm39)	Y411*	probably null	Het
Myh7	T	C	14: 55,227,482 (GRCm39)	T318A	probably benign	Het
Nbeal1	T	A	1: 60,349,383 (GRCm39)	Y2348*	probably null	Het
Nhsl3	A	G	4: 129,119,211 (GRCm39)	Y170H	probably damaging	Het
Niban2	T	C	2: 32,812,654 (GRCm39)	S468P	possibly damaging	Het
Nlrc3	T	C	16: 3,781,454 (GRCm39)	S668G	probably damaging	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or10ag59	T	A	2: 87,406,052 (GRCm39)	V208E	probably damaging	Het
Or12j2	A	T	7: 139,916,654 (GRCm39)	D293V	possibly damaging	Het
Or4c117	C	A	2: 88,955,180 (GRCm39)	R298S	probably benign	Het
Pcna	A	G	2: 132,094,797 (GRCm39)	S54P	probably benign	Het
Pde6a	A	G	18: 61,391,364 (GRCm39)	T570A	probably damaging	Het
Phf21b	A	T	15: 84,739,918 (GRCm39)	M1K	probably null	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prob1	A	G	18: 35,786,352 (GRCm39)	F634S	possibly damaging	Het
Prss50	A	G	9: 110,690,357 (GRCm39)	T167A	probably damaging	Het
Ptpn1	T	C	2: 167,816,692 (GRCm39)	V249A	probably damaging	Het
Rai1	G	A	11: 60,079,499 (GRCm39)	V1188I	probably benign	Het
Ric1	G	A	19: 29,561,978 (GRCm39)		probably null	Het
Robo1	C	T	16: 72,786,519 (GRCm39)	Q844*	probably null	Het
Rpn1	A	G	6: 88,061,619 (GRCm39)	D36G	possibly damaging	Het
Serpinb1b	A	T	13: 33,277,810 (GRCm39)	M348L	probably benign	Het
Setd4	T	C	16: 93,380,830 (GRCm39)		probably null	Het
Setd5	T	G	6: 113,124,518 (GRCm39)	S1124A	probably benign	Het
Slc35c1	C	A	2: 92,289,084 (GRCm39)	V154F	probably damaging	Het
Slc7a6os	G	T	8: 106,937,121 (GRCm39)	S113*	probably null	Het
Syne2	T	A	12: 76,149,810 (GRCm39)	D1787E	probably benign	Het
Tas2r144	A	C	6: 42,192,373 (GRCm39)	I38L	probably damaging	Het
Tepsin	G	T	11: 119,982,534 (GRCm39)	T512K	possibly damaging	Het
Utp20	A	G	10: 88,606,586 (GRCm39)	V1662A	probably benign	Het
Vmn1r201	C	T	13: 22,659,509 (GRCm39)	A241V	possibly damaging	Het
Vmn2r60	T	A	7: 41,785,826 (GRCm39)	S210T	probably benign	Het
Wdr6	G	T	9: 108,451,784 (GRCm39)	H700N	probably damaging	Het
Zdhhc8	T	C	16: 18,052,790 (GRCm39)	T29A	probably benign	Het
Zfp335	A	G	2: 164,742,052 (GRCm39)	I614T	probably damaging	Het
Zfp54	T	A	17: 21,653,844 (GRCm39)	S113T	probably benign	Het
Zfp873	T	A	10: 81,897,071 (GRCm39)	C601S	probably damaging	Het
Zfyve26	T	C	12: 79,325,146 (GRCm39)		probably null	Het
Zmynd8	T	C	2: 165,681,929 (GRCm39)	T201A	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
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'- CTGATTGGACTTGGCTCTGC -3'
(R):5'- TCACTGGTCAGGGACAAAGTG -3'

Sequencing Primer
(F):5'- AGTGTGCTCTGTATCATGTGACTTCC -3'
(R):5'- TCAGGGACAAAGTGACCAGG -3'

Posted On

2019-09-13