Incidental Mutation 'R7264:Ankle2'
| ID |
564809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankle2
|
| Ensembl Gene |
ENSMUSG00000029501 |
| Gene Name |
ankyrin repeat and LEM domain containing 2 |
| Synonyms |
1110001J12Rik, D5Ertd585e |
| MMRRC Submission |
045354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R7264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110378870-110404517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110385689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 346
(G346D)
|
| 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: G345D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: G345D
| 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: G346D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: G346D
| 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: G346D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: G346D
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
C |
A |
3: 105,812,141 (GRCm39) |
T9K |
probably benign |
Het |
| Ankib1 |
T |
A |
5: 3,805,739 (GRCm39) |
N176I |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,348,732 (GRCm39) |
M800K |
probably benign |
Het |
| Arhgef16 |
C |
T |
4: 154,365,387 (GRCm39) |
G576D |
probably damaging |
Het |
| C2cd2 |
C |
A |
16: 97,677,419 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
T |
C |
6: 118,579,156 (GRCm39) |
N1847S |
|
Het |
| Camta1 |
A |
G |
4: 151,537,856 (GRCm39) |
I108T |
probably damaging |
Het |
| Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
| Cep192 |
A |
G |
18: 67,953,426 (GRCm39) |
Y481C |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,821,071 (GRCm39) |
E887G |
probably damaging |
Het |
| Clcn1 |
C |
A |
6: 42,275,772 (GRCm39) |
A298D |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,979,248 (GRCm39) |
N1305S |
unknown |
Het |
| Depdc5 |
T |
C |
5: 33,125,089 (GRCm39) |
V1155A |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,991,851 (GRCm39) |
D3050E |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,557,973 (GRCm39) |
D2147G |
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,386,145 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,252,920 (GRCm39) |
M622V |
probably benign |
Het |
| Gm3402 |
T |
A |
5: 146,451,472 (GRCm39) |
M110K |
probably damaging |
Het |
| Gm8257 |
T |
A |
14: 44,893,817 (GRCm39) |
E82D |
probably damaging |
Het |
| Gne |
T |
A |
4: 44,042,175 (GRCm39) |
I498F |
probably damaging |
Het |
| Grep1 |
A |
G |
17: 23,931,308 (GRCm39) |
S200P |
not run |
Het |
| Gstcd |
C |
T |
3: 132,790,540 (GRCm39) |
V76I |
probably benign |
Het |
| Hgs |
G |
T |
11: 120,365,139 (GRCm39) |
V176L |
probably benign |
Het |
| Hrob |
T |
A |
11: 102,146,422 (GRCm39) |
C233S |
probably benign |
Het |
| Igbp1b |
T |
C |
6: 138,635,108 (GRCm39) |
N112S |
possibly damaging |
Het |
| Itga11 |
A |
T |
9: 62,653,190 (GRCm39) |
T355S |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,050,292 (GRCm39) |
H301L |
|
Het |
| Lhx9 |
T |
C |
1: 138,760,489 (GRCm39) |
D296G |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,427,962 (GRCm39) |
G537D |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,950,844 (GRCm39) |
I581V |
possibly damaging |
Het |
| Mrps36 |
A |
G |
13: 100,875,707 (GRCm39) |
S36P |
probably benign |
Het |
| Or52z13 |
T |
A |
7: 103,246,955 (GRCm39) |
I144N |
probably damaging |
Het |
| Plcb4 |
A |
T |
2: 135,807,000 (GRCm39) |
N547I |
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,083,424 (GRCm39) |
M505L |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,329,818 (GRCm39) |
N154Y |
not run |
Het |
| Rev1 |
A |
T |
1: 38,124,682 (GRCm39) |
V420D |
probably damaging |
Het |
| Rin3 |
A |
G |
12: 102,356,374 (GRCm39) |
I972V |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,993,654 (GRCm39) |
L775P |
not run |
Het |
| Scarf2 |
G |
T |
16: 17,621,154 (GRCm39) |
C274F |
possibly damaging |
Het |
| Serinc2 |
C |
T |
4: 130,152,052 (GRCm39) |
V271I |
probably benign |
Het |
| Slpi |
C |
A |
2: 164,198,322 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
C |
T |
3: 94,173,045 (GRCm39) |
H14Y |
possibly damaging |
Het |
| Stxbp6 |
T |
C |
12: 44,948,782 (GRCm39) |
D109G |
probably damaging |
Het |
| Tmem74 |
G |
A |
15: 43,730,864 (GRCm39) |
L60F |
probably benign |
Het |
| Trhde |
C |
T |
10: 114,636,776 (GRCm39) |
G144S |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,751,333 (GRCm39) |
S1610P |
probably benign |
Het |
| Ttc33 |
C |
T |
15: 5,246,718 (GRCm39) |
Q175* |
probably null |
Het |
| Usp34 |
A |
G |
11: 23,283,566 (GRCm39) |
T106A |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,741,167 (GRCm39) |
D266G |
probably benign |
Het |
| Wdfy3 |
C |
A |
5: 102,003,389 (GRCm39) |
A2905S |
probably benign |
Het |
| Wfs1 |
A |
G |
5: 37,125,190 (GRCm39) |
L567P |
probably damaging |
Het |
| Zfp42 |
T |
C |
8: 43,749,312 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp957 |
A |
G |
14: 79,451,080 (GRCm39) |
F240L |
probably damaging |
Het |
| Zgrf1 |
A |
T |
3: 127,357,218 (GRCm39) |
M815L |
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 |
|
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 |
|
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'- CCTTCGCCACAGTAGACTATG -3'
(R):5'- TAATGTCAGCTGGCACATGG -3'
Sequencing Primer
(F):5'- TTCGCCACAGTAGACTATGTAAGAAG -3'
(R):5'- ACATGGAAGCCTGGTTCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation