Incidental Mutation 'R4196:Ankle2'
| ID |
318557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankle2
|
| Ensembl Gene |
ENSMUSG00000029501 |
| Gene Name |
ankyrin repeat and LEM domain containing 2 |
| Synonyms |
1110001J12Rik, D5Ertd585e |
| MMRRC Submission |
041027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R4196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110378870-110404517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110392409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 472
(K472E)
|
| 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: K472E
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: K472E
| 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: K473E
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: K473E
| 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: K473E
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: K473E
| 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 |
0.3041 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Aup1 |
T |
C |
6: 83,032,211 (GRCm39) |
V126A |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,958,200 (GRCm39) |
Y1014C |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,123,684 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,154,382 (GRCm39) |
|
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,337,209 (GRCm39) |
N221K |
possibly damaging |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Elp1 |
A |
T |
4: 56,755,353 (GRCm39) |
N1295K |
probably damaging |
Het |
| Elp3 |
A |
G |
14: 65,785,451 (GRCm39) |
L450P |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,383,014 (GRCm39) |
D328N |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gulo |
G |
T |
14: 66,225,702 (GRCm39) |
P375T |
possibly damaging |
Het |
| Hspd1 |
T |
C |
1: 55,126,068 (GRCm39) |
M11V |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,598,671 (GRCm39) |
T243A |
probably benign |
Het |
| Lipg |
C |
T |
18: 75,078,902 (GRCm39) |
R450H |
probably damaging |
Het |
| Lrp3 |
T |
A |
7: 34,902,835 (GRCm39) |
S504C |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,488,556 (GRCm39) |
V564A |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,138 (GRCm39) |
T110A |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,388,582 (GRCm39) |
T174A |
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,122,002 (GRCm38) |
T289S |
possibly damaging |
Het |
| Rab11fip2 |
T |
C |
19: 59,924,213 (GRCm39) |
T222A |
probably damaging |
Het |
| Rhbdd3 |
G |
T |
11: 5,049,460 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
C |
A |
11: 87,479,598 (GRCm39) |
D239E |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,083,604 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
T |
A |
17: 85,368,306 (GRCm39) |
W525R |
probably damaging |
Het |
| Trim75 |
A |
G |
8: 65,435,416 (GRCm39) |
S345P |
probably damaging |
Het |
| Usp5 |
C |
T |
6: 124,801,901 (GRCm39) |
E72K |
possibly damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,237 (GRCm39) |
M226K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,160,457 (GRCm39) |
V697E |
probably damaging |
Het |
| Zbtb9 |
C |
T |
17: 27,192,853 (GRCm39) |
T86I |
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 |
|
|
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 |
|
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'- ACAGGTTTTCCGAGTGTGAG -3'
(R):5'- GTCCCTGAGCAGCAATCAAG -3'
Sequencing Primer
(F):5'- CTCTGGGGCATCTGCACTTAAG -3'
(R):5'- GTCCCTGAGCAGCAATCAAGTAAAAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation