Incidental Mutation 'R5798:Ankle2'
| ID |
447309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankle2
|
| Ensembl Gene |
ENSMUSG00000029501 |
| Gene Name |
ankyrin repeat and LEM domain containing 2 |
| Synonyms |
1110001J12Rik, D5Ertd585e |
| MMRRC Submission |
043210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R5798 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110378870-110404517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110399401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 587
(Y587C)
|
| 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: Y586C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: Y586C
| 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: Y587C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: Y587C
| 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 damaging
Transcript: ENSMUST00000197188
AA Change: Y587C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: Y587C
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,616,929 (GRCm39) |
Y1226* |
probably null |
Het |
| Ankrd52 |
T |
A |
10: 128,223,479 (GRCm39) |
M697K |
probably benign |
Het |
| Arhgef40 |
G |
T |
14: 52,234,489 (GRCm39) |
A931S |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,532,884 (GRCm39) |
|
probably null |
Het |
| Ccdc169 |
T |
C |
3: 55,047,545 (GRCm39) |
V12A |
possibly damaging |
Het |
| Ces3b |
T |
A |
8: 105,815,072 (GRCm39) |
C284S |
probably damaging |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
A |
T |
1: 87,079,205 (GRCm39) |
M491K |
probably damaging |
Het |
| Gnaz |
C |
T |
10: 74,850,703 (GRCm39) |
R243W |
probably damaging |
Het |
| Homer1 |
C |
A |
13: 93,538,603 (GRCm39) |
R311S |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,191,480 (GRCm39) |
D1118G |
probably benign |
Het |
| Or14j10 |
A |
G |
17: 37,934,881 (GRCm39) |
V215A |
probably benign |
Het |
| Or52e7 |
A |
C |
7: 104,685,344 (GRCm39) |
K313T |
probably benign |
Het |
| Pecam1 |
C |
T |
11: 106,586,658 (GRCm39) |
E185K |
possibly damaging |
Het |
| Rfx2 |
A |
T |
17: 57,111,362 (GRCm39) |
V70E |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,717,942 (GRCm39) |
T1474M |
probably damaging |
Het |
| Slc39a12 |
G |
A |
2: 14,454,637 (GRCm39) |
A516T |
probably damaging |
Het |
| Tanc2 |
TGCAGCAGCAGCAGCAGCAGCAGC |
TGCAGCAGCAGCAGCAGCAGC |
11: 105,812,681 (GRCm39) |
|
probably benign |
Het |
| Timd2 |
T |
C |
11: 46,568,064 (GRCm39) |
I243M |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,692,545 (GRCm39) |
S104T |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,446,892 (GRCm39) |
N420S |
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,316,513 (GRCm39) |
I353T |
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 |
|
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 |
|
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'- ATGCAGGGTCTAACCACTGG -3'
(R):5'- AGCTGGCTGTGATTCCTTGC -3'
Sequencing Primer
(F):5'- TCTAACCACTGGAGGAACATG -3'
(R):5'- GCACAATTTCTGATATCAGTTTGAGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation