Incidental Mutation 'R8207:Aen'
| ID |
635961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aen
|
| Ensembl Gene |
ENSMUSG00000030609 |
| Gene Name |
apoptosis enhancing nuclease |
| Synonyms |
2700083B06Rik, Isg20l1 |
| MMRRC Submission |
067630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R8207 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
78545675-78560957 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78552491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 150
(M150I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107421]
[ENSMUST00000107423]
[ENSMUST00000107425]
[ENSMUST00000138167]
[ENSMUST00000205861]
[ENSMUST00000205882]
|
| AlphaFold |
Q9CZI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107421
AA Change: M112I
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103044
Gene: ENSMUSG00000030609
AA Change: M112I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
EXOIII
|
70 |
236 |
2.04e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107423
AA Change: M150I
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103046
Gene: ENSMUSG00000030609
AA Change: M150I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
EXOIII
|
108 |
274 |
2.04e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107425
AA Change: M150I
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103048
Gene: ENSMUSG00000030609
AA Change: M150I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
EXOIII
|
108 |
274 |
2.04e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138167
AA Change: M112I
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117331
Gene: ENSMUSG00000030609
AA Change: M112I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
Pfam:RNase_T
|
72 |
138 |
1.9e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205861
AA Change: M55I
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205882
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef11 |
A |
G |
3: 87,606,082 (GRCm39) |
N279S |
possibly damaging |
Het |
| Arid3a |
T |
C |
10: 79,786,760 (GRCm39) |
|
probably null |
Het |
| Casp8ap2 |
A |
G |
4: 32,646,446 (GRCm39) |
T1840A |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,525,413 (GRCm39) |
N235K |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 109,922,076 (GRCm39) |
V56A |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,512,574 (GRCm39) |
R837H |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,445,312 (GRCm39) |
N518S |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,576,515 (GRCm39) |
D137G |
possibly damaging |
Het |
| Cpt1b |
T |
C |
15: 89,303,018 (GRCm39) |
T649A |
probably damaging |
Het |
| Efcab8 |
C |
G |
2: 153,631,145 (GRCm39) |
L192V |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,548,965 (GRCm39) |
R1024G |
probably benign |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Fmo1 |
T |
A |
1: 162,677,676 (GRCm39) |
T147S |
probably benign |
Het |
| Fryl |
A |
C |
5: 73,257,843 (GRCm39) |
|
probably null |
Het |
| Galnt13 |
A |
C |
2: 54,770,122 (GRCm39) |
I305L |
probably benign |
Het |
| Guca2a |
A |
G |
4: 119,494,951 (GRCm39) |
N2D |
unknown |
Het |
| Iqcd |
C |
T |
5: 120,740,514 (GRCm39) |
R282W |
probably damaging |
Het |
| Lamc1 |
A |
C |
1: 153,126,268 (GRCm39) |
C475G |
probably damaging |
Het |
| Map3k5 |
AAAAGAAAAAGA |
AA |
10: 19,986,612 (GRCm39) |
|
probably null |
Het |
| Med13 |
A |
T |
11: 86,194,375 (GRCm39) |
D789E |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,569,651 (GRCm39) |
Y1207C |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,967,892 (GRCm39) |
D977G |
possibly damaging |
Het |
| Mrpl53 |
A |
T |
6: 83,086,169 (GRCm39) |
N26I |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 49,869,760 (GRCm39) |
|
probably null |
Het |
| Ogdh |
T |
G |
11: 6,299,329 (GRCm39) |
F743V |
probably benign |
Het |
| Or4d10b |
A |
T |
19: 12,036,222 (GRCm39) |
M298K |
possibly damaging |
Het |
| Or4n4 |
C |
T |
14: 50,519,036 (GRCm39) |
V225I |
probably benign |
Het |
| Or6c3 |
A |
G |
10: 129,308,953 (GRCm39) |
T131A |
probably benign |
Het |
| Plscr1l1 |
T |
A |
9: 92,233,061 (GRCm39) |
F61L |
probably benign |
Het |
| Pmvk |
A |
G |
3: 89,375,899 (GRCm39) |
E174G |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,414,158 (GRCm39) |
N206D |
|
Het |
| Prelid3a |
A |
T |
18: 67,606,018 (GRCm39) |
S42C |
probably benign |
Het |
| Riok1 |
T |
A |
13: 38,236,296 (GRCm39) |
H347Q |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,789,650 (GRCm39) |
L1488P |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,052,109 (GRCm39) |
V158A |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,360,076 (GRCm39) |
I43M |
possibly damaging |
Het |
| Smarca2 |
A |
G |
19: 26,654,080 (GRCm39) |
N755S |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tfb2m |
G |
A |
1: 179,373,668 (GRCm39) |
P10L |
probably benign |
Het |
| Trim30c |
T |
C |
7: 104,032,703 (GRCm39) |
M252V |
probably benign |
Het |
| Ttll1 |
A |
G |
15: 83,384,279 (GRCm39) |
L116P |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,440,248 (GRCm39) |
H91Y |
possibly damaging |
Het |
| Vgll4 |
A |
G |
6: 114,839,786 (GRCm39) |
S175P |
probably damaging |
Het |
| Vmn1r79 |
A |
G |
7: 11,910,415 (GRCm39) |
Y99C |
possibly damaging |
Het |
| Vmn2r80 |
C |
T |
10: 79,030,150 (GRCm39) |
Q659* |
probably null |
Het |
| Zfp382 |
A |
G |
7: 29,833,840 (GRCm39) |
D497G |
possibly damaging |
Het |
| Zfp41 |
A |
G |
15: 75,490,384 (GRCm39) |
E112G |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,307,605 (GRCm39) |
S1754P |
probably damaging |
Het |
|
| Other mutations in Aen |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01062:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01065:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01067:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01068:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01069:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01070:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01086:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01089:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01126:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01128:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01133:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01134:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01147:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1433:Aen
|
UTSW |
7 |
78,557,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Aen
|
UTSW |
7 |
78,552,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1615:Aen
|
UTSW |
7 |
78,555,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1886:Aen
|
UTSW |
7 |
78,557,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1887:Aen
|
UTSW |
7 |
78,557,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1918:Aen
|
UTSW |
7 |
78,555,777 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1919:Aen
|
UTSW |
7 |
78,555,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Aen
|
UTSW |
7 |
78,552,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Aen
|
UTSW |
7 |
78,555,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2224:Aen
|
UTSW |
7 |
78,552,199 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2225:Aen
|
UTSW |
7 |
78,552,199 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2226:Aen
|
UTSW |
7 |
78,552,199 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2244:Aen
|
UTSW |
7 |
78,557,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Aen
|
UTSW |
7 |
78,555,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4943:Aen
|
UTSW |
7 |
78,552,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5634:Aen
|
UTSW |
7 |
78,552,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5834:Aen
|
UTSW |
7 |
78,557,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5961:Aen
|
UTSW |
7 |
78,556,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6130:Aen
|
UTSW |
7 |
78,552,387 (GRCm39) |
splice site |
probably null |
|
|
R6255:Aen
|
UTSW |
7 |
78,555,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6400:Aen
|
UTSW |
7 |
78,557,142 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7303:Aen
|
UTSW |
7 |
78,552,204 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8476:Aen
|
UTSW |
7 |
78,556,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Aen
|
UTSW |
7 |
78,552,107 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Aen
|
UTSW |
7 |
78,552,514 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCTTCACCATCACAGATG -3'
(R):5'- CCAGATACAAAGTGGTGCCTC -3'
Sequencing Primer
(F):5'- GCCTGTGCAGCAAAAAGTCTG -3'
(R):5'- AAAGTGGTGCCTCGAACC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation