Incidental Mutation 'R4830:Ankle2'
ID |
372733 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankle2
|
Ensembl Gene |
ENSMUSG00000029501 |
Gene Name |
ankyrin repeat and LEM domain containing 2 |
Synonyms |
1110001J12Rik, D5Ertd585e |
MMRRC Submission |
042446-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R4830 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
110378870-110404517 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 110389879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 446
(K446Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031474]
[ENSMUST00000086674]
[ENSMUST00000197188]
|
AlphaFold |
Q6P1H6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031474
AA Change: K446Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031474 Gene: ENSMUSG00000029501 AA Change: K446Q
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: K447Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083878 Gene: ENSMUSG00000029501 AA Change: K447Q
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: ENSMUST00000196865
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197101
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197188
AA Change: K447Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143044 Gene: ENSMUSG00000029501 AA Change: K447Q
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 |
0.5809 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
97% (71/73) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
C |
A |
3: 121,553,933 (GRCm39) |
G643V |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,274,619 (GRCm39) |
E1225G |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,048,059 (GRCm39) |
R111H |
probably damaging |
Het |
Boc |
A |
C |
16: 44,310,520 (GRCm39) |
M800R |
probably damaging |
Het |
Ccnt1 |
A |
T |
15: 98,441,332 (GRCm39) |
N645K |
probably damaging |
Het |
Cd93 |
G |
A |
2: 148,285,299 (GRCm39) |
Q16* |
probably null |
Het |
Cpsf4l |
G |
T |
11: 113,600,328 (GRCm39) |
|
probably benign |
Het |
Cuzd1 |
T |
A |
7: 130,919,783 (GRCm39) |
D111V |
probably damaging |
Het |
Dab2 |
T |
C |
15: 6,457,008 (GRCm39) |
C232R |
probably benign |
Het |
Dmpk |
A |
T |
7: 18,821,453 (GRCm39) |
Y237F |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,021,745 (GRCm39) |
T3526S |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,223,767 (GRCm39) |
|
probably null |
Het |
Dsp |
G |
A |
13: 38,376,840 (GRCm39) |
V1542I |
probably benign |
Het |
Dst |
T |
A |
1: 34,237,586 (GRCm39) |
|
probably null |
Het |
Esd |
T |
C |
14: 74,978,600 (GRCm39) |
L54S |
probably damaging |
Het |
Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,516,857 (GRCm39) |
N500K |
probably damaging |
Het |
Grhl2 |
T |
A |
15: 37,335,903 (GRCm39) |
|
probably null |
Het |
Gsto1 |
C |
T |
19: 47,852,830 (GRCm39) |
R222C |
probably benign |
Het |
Inpp4a |
T |
A |
1: 37,410,861 (GRCm39) |
M343K |
probably damaging |
Het |
Itpripl2 |
T |
C |
7: 118,090,280 (GRCm39) |
Q93R |
probably benign |
Het |
Jakmip2 |
G |
A |
18: 43,700,208 (GRCm39) |
T450I |
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,294,620 (GRCm39) |
I1186N |
unknown |
Het |
Kif1a |
T |
C |
1: 92,948,931 (GRCm39) |
|
probably null |
Het |
Klhl20 |
T |
C |
1: 160,925,946 (GRCm39) |
K434R |
probably benign |
Het |
Lemd3 |
T |
C |
10: 120,767,853 (GRCm39) |
D697G |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,753,987 (GRCm39) |
S383P |
probably damaging |
Het |
Ltn1 |
C |
A |
16: 87,176,582 (GRCm39) |
K1741N |
probably damaging |
Het |
Lvrn |
A |
T |
18: 47,038,418 (GRCm39) |
T991S |
probably damaging |
Het |
Macroh2a2 |
C |
T |
10: 61,575,132 (GRCm39) |
D355N |
possibly damaging |
Het |
Mast3 |
C |
A |
8: 71,241,559 (GRCm39) |
R151L |
possibly damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Myoz1 |
T |
C |
14: 20,705,377 (GRCm39) |
K14E |
probably damaging |
Het |
Neb |
G |
T |
2: 52,082,532 (GRCm39) |
Q5450K |
probably damaging |
Het |
Nedd1 |
T |
A |
10: 92,522,120 (GRCm39) |
N639I |
probably damaging |
Het |
Nlrp4e |
A |
T |
7: 23,036,165 (GRCm39) |
N673Y |
probably benign |
Het |
Nop53 |
C |
T |
7: 15,676,129 (GRCm39) |
R190Q |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,789,092 (GRCm39) |
Y468H |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,958,433 (GRCm39) |
T3507A |
probably damaging |
Het |
Opn5 |
T |
C |
17: 42,922,187 (GRCm39) |
H5R |
probably benign |
Het |
Or4l15 |
T |
C |
14: 50,197,681 (GRCm39) |
N283D |
probably damaging |
Het |
Patl1 |
T |
C |
19: 11,902,515 (GRCm39) |
M349T |
probably benign |
Het |
Phactr3 |
A |
G |
2: 177,925,811 (GRCm39) |
N362S |
probably damaging |
Het |
Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
Rapgef5 |
G |
A |
12: 117,719,809 (GRCm39) |
R579Q |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,430,081 (GRCm39) |
D234G |
probably benign |
Het |
Serpinb3a |
C |
T |
1: 106,976,316 (GRCm39) |
E122K |
probably benign |
Het |
Slc22a15 |
T |
C |
3: 101,782,919 (GRCm39) |
|
probably benign |
Het |
Slc25a12 |
A |
T |
2: 71,127,149 (GRCm39) |
V344E |
probably damaging |
Het |
Slc43a2 |
T |
C |
11: 75,434,119 (GRCm39) |
L99P |
probably damaging |
Het |
Smim27 |
G |
T |
4: 40,269,719 (GRCm39) |
|
probably null |
Het |
Smtn |
A |
G |
11: 3,470,736 (GRCm39) |
|
probably benign |
Het |
Szt2 |
A |
T |
4: 118,226,445 (GRCm39) |
Y3001N |
unknown |
Het |
Tgfbr3 |
G |
T |
5: 107,257,585 (GRCm39) |
P825T |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,568,937 (GRCm39) |
T472A |
probably benign |
Het |
Trf |
T |
A |
9: 103,105,114 (GRCm39) |
D66V |
probably damaging |
Het |
Vmn1r124 |
A |
G |
7: 20,993,624 (GRCm39) |
C307R |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,452,370 (GRCm39) |
F656Y |
possibly damaging |
Het |
Zic1 |
G |
T |
9: 91,244,584 (GRCm39) |
S358R |
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 |
|
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'- TTGGGAAGGCTGAGAACCAC -3'
(R):5'- AGCAAGACTGGGTTAGCTCC -3'
Sequencing Primer
(F):5'- GGCTGAGAACCACTGTTTTAAG -3'
(R):5'- GCAAGACTGGGTTAGCTCCTTCTC -3'
|
Posted On |
2016-03-01 |