Incidental Mutation 'R6825:Ankle2'
| ID |
534094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankle2
|
| Ensembl Gene |
ENSMUSG00000029501 |
| Gene Name |
ankyrin repeat and LEM domain containing 2 |
| Synonyms |
1110001J12Rik, D5Ertd585e |
| MMRRC Submission |
044937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R6825 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110378870-110404517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110398635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 561
(R561S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031474]
[ENSMUST00000086674]
[ENSMUST00000197188]
|
| AlphaFold |
Q6P1H6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031474
AA Change: R560S
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: R560S
| 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 null
Transcript: ENSMUST00000086674
AA Change: R561S
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: R561S
| 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 null
Transcript: ENSMUST00000197188
AA Change: R561S
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: R561S
| 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: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| 4930447C04Rik |
A |
T |
12: 72,954,654 (GRCm39) |
S206T |
probably benign |
Het |
| Aasdh |
A |
T |
5: 77,036,696 (GRCm39) |
|
probably null |
Het |
| Adam10 |
G |
T |
9: 70,668,884 (GRCm39) |
C400F |
probably damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,251,895 (GRCm39) |
T882I |
probably damaging |
Het |
| Arpc1a |
A |
T |
5: 145,032,936 (GRCm39) |
K82* |
probably null |
Het |
| Card11 |
C |
A |
5: 140,863,837 (GRCm39) |
R967L |
probably benign |
Het |
| Ccdc82 |
G |
T |
9: 13,251,601 (GRCm39) |
|
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,227,392 (GRCm39) |
D1026G |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,119,833 (GRCm39) |
Q1321L |
probably damaging |
Het |
| Clcn2 |
C |
A |
16: 20,528,408 (GRCm39) |
|
probably benign |
Het |
| Csf3 |
G |
C |
11: 98,593,273 (GRCm39) |
G130A |
probably damaging |
Het |
| Cul2 |
T |
A |
18: 3,434,946 (GRCm39) |
S737T |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,584,543 (GRCm39) |
H504Y |
probably benign |
Het |
| Cyp3a44 |
G |
A |
5: 145,716,396 (GRCm39) |
P398L |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,960,147 (GRCm39) |
I2206T |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
| Epb41l5 |
A |
T |
1: 119,547,931 (GRCm39) |
D157E |
possibly damaging |
Het |
| Ercc8 |
T |
C |
13: 108,295,343 (GRCm39) |
S6P |
probably damaging |
Het |
| Faxc |
T |
C |
4: 21,931,672 (GRCm39) |
S37P |
probably benign |
Het |
| Fbxl19 |
T |
A |
7: 127,349,187 (GRCm39) |
I119K |
probably damaging |
Het |
| Frmd4b |
A |
G |
6: 97,302,437 (GRCm39) |
V195A |
possibly damaging |
Het |
| Fut9 |
A |
T |
4: 25,619,925 (GRCm39) |
S296R |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,533,674 (GRCm39) |
N112D |
probably benign |
Het |
| H2-Q1 |
T |
C |
17: 35,540,028 (GRCm39) |
L99P |
probably damaging |
Het |
| Helq |
A |
T |
5: 100,940,561 (GRCm39) |
I346N |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,278,976 (GRCm39) |
K2E |
possibly damaging |
Het |
| Itgae |
T |
C |
11: 73,009,322 (GRCm39) |
M502T |
possibly damaging |
Het |
| Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
| Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,277,015 (GRCm39) |
|
probably null |
Het |
| Mgat4a |
T |
A |
1: 37,503,515 (GRCm39) |
K220* |
probably null |
Het |
| Or2t43 |
T |
C |
11: 58,457,476 (GRCm39) |
R232G |
possibly damaging |
Het |
| Or4c104 |
T |
C |
2: 88,586,255 (GRCm39) |
I255V |
possibly damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,514 (GRCm39) |
V194I |
probably benign |
Het |
| Pex5 |
A |
T |
6: 124,391,340 (GRCm39) |
M18K |
probably damaging |
Het |
| Phlda3 |
T |
C |
1: 135,694,562 (GRCm39) |
*126Q |
probably null |
Het |
| Plxna1 |
G |
T |
6: 89,297,597 (GRCm39) |
D1862E |
probably benign |
Het |
| Pold4 |
A |
T |
19: 4,282,164 (GRCm39) |
I7F |
possibly damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,173,432 (GRCm39) |
I19F |
possibly damaging |
Het |
| Prl7d1 |
T |
G |
13: 27,894,125 (GRCm39) |
E148A |
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,985,892 (GRCm39) |
V1201E |
possibly damaging |
Het |
| Rab3gap1 |
T |
C |
1: 127,858,158 (GRCm39) |
C510R |
probably damaging |
Het |
| Rhbdf1 |
C |
T |
11: 32,159,970 (GRCm39) |
R802H |
probably damaging |
Het |
| Rpl18a |
A |
C |
8: 71,348,836 (GRCm39) |
F47V |
probably damaging |
Het |
| Sema5b |
C |
A |
16: 35,448,377 (GRCm39) |
|
probably null |
Het |
| Sspo |
G |
A |
6: 48,442,459 (GRCm39) |
G1985R |
probably benign |
Het |
| Tcaf2 |
C |
T |
6: 42,606,452 (GRCm39) |
A501T |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,681,542 (GRCm39) |
D563G |
probably damaging |
Het |
| Tdh |
G |
A |
14: 63,733,281 (GRCm39) |
T155M |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,937,711 (GRCm39) |
N1654S |
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,800,609 (GRCm39) |
|
probably benign |
Het |
| Tns1 |
G |
T |
1: 74,041,482 (GRCm39) |
C136* |
probably null |
Het |
| Tomm5 |
A |
T |
4: 45,106,443 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,889,394 (GRCm39) |
F512I |
probably damaging |
Het |
| Ttll5 |
A |
T |
12: 85,930,102 (GRCm39) |
|
probably null |
Het |
| Upp1 |
T |
A |
11: 9,081,707 (GRCm39) |
H81Q |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,713,562 (GRCm39) |
S71P |
probably damaging |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,817,471 (GRCm39) |
Y238C |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,843,265 (GRCm39) |
D307G |
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 |
|
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'- GGCTACACAATCTGTAAGGTGG -3'
(R):5'- TCAAACTGGGCACATACTTTTG -3'
Sequencing Primer
(F):5'- GTGGAAGGAAAAACATTAATTAAGCC -3'
(R):5'- TGAACTCCGGACCTTTGGAAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation