Incidental Mutation 'IGL01444:Ankrd42'
| ID |
84353 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankrd42
|
| Ensembl Gene |
ENSMUSG00000041343 |
| Gene Name |
ankyrin repeat domain 42 |
| Synonyms |
Ikbn, 4933417L02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL01444
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
92230931-92286350 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92259793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 327
(T327A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056106]
[ENSMUST00000118157]
[ENSMUST00000126305]
[ENSMUST00000138267]
[ENSMUST00000207131]
[ENSMUST00000207151]
|
| AlphaFold |
Q3V096 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056106
AA Change: T327A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000061208
Gene: ENSMUSG00000041343
AA Change: T327A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
25 |
54 |
1.1e2 |
SMART |
|
ANK
|
59 |
88 |
7.3e-3 |
SMART |
|
ANK
|
92 |
121 |
6.71e-2 |
SMART |
|
ANK
|
125 |
154 |
1.48e-3 |
SMART |
|
ANK
|
158 |
187 |
2.11e2 |
SMART |
|
ANK
|
191 |
220 |
9.78e-4 |
SMART |
|
ANK
|
263 |
293 |
1.33e2 |
SMART |
|
ANK
|
297 |
326 |
1.22e-4 |
SMART |
|
coiled coil region
|
437 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118157
AA Change: T327A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113767
Gene: ENSMUSG00000041343
AA Change: T327A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
25 |
54 |
1.1e2 |
SMART |
|
ANK
|
59 |
88 |
7.3e-3 |
SMART |
|
ANK
|
92 |
121 |
6.71e-2 |
SMART |
|
ANK
|
125 |
154 |
1.48e-3 |
SMART |
|
ANK
|
158 |
187 |
2.11e2 |
SMART |
|
ANK
|
191 |
220 |
9.78e-4 |
SMART |
|
ANK
|
263 |
293 |
1.33e2 |
SMART |
|
ANK
|
297 |
326 |
1.22e-4 |
SMART |
|
coiled coil region
|
437 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126305
|
| SMART Domains |
Protein: ENSMUSP00000123315
Gene: ENSMUSG00000041343
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
25 |
54 |
1.1e2 |
SMART |
|
ANK
|
59 |
88 |
7.3e-3 |
SMART |
|
ANK
|
92 |
121 |
6.71e-2 |
SMART |
|
ANK
|
125 |
154 |
2.92e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138215
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138267
AA Change: T327A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142971
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207131
AA Change: T327A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207151
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207971
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
A |
T |
3: 37,146,183 (GRCm39) |
N517I |
probably damaging |
Het |
| Adam25 |
G |
A |
8: 41,207,958 (GRCm39) |
R408H |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,079,470 (GRCm39) |
D251E |
probably benign |
Het |
| Ang |
C |
A |
14: 51,339,124 (GRCm39) |
Y88* |
probably null |
Het |
| Birc6 |
A |
G |
17: 74,938,682 (GRCm39) |
D2696G |
probably damaging |
Het |
| Chd3 |
G |
A |
11: 69,239,568 (GRCm39) |
T1717M |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,250,069 (GRCm39) |
M970L |
probably benign |
Het |
| Dhx32 |
T |
C |
7: 133,350,706 (GRCm39) |
I121M |
possibly damaging |
Het |
| Dnah11 |
G |
A |
12: 117,983,967 (GRCm39) |
S2506F |
possibly damaging |
Het |
| Dscam |
T |
A |
16: 96,474,909 (GRCm39) |
I1218F |
possibly damaging |
Het |
| Duox1 |
T |
C |
2: 122,170,571 (GRCm39) |
L1197P |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,941,288 (GRCm39) |
|
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,355,054 (GRCm39) |
K49R |
probably damaging |
Het |
| Exoc8 |
T |
A |
8: 125,622,580 (GRCm39) |
T596S |
possibly damaging |
Het |
| F13a1 |
C |
T |
13: 37,102,551 (GRCm39) |
G391R |
probably null |
Het |
| Fat3 |
A |
T |
9: 15,910,144 (GRCm39) |
S1953T |
probably damaging |
Het |
| Gls2 |
C |
A |
10: 128,037,216 (GRCm39) |
N252K |
probably damaging |
Het |
| Haus2 |
G |
A |
2: 120,446,423 (GRCm39) |
R115K |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,861,340 (GRCm39) |
K262E |
probably benign |
Het |
| Islr2 |
C |
T |
9: 58,105,661 (GRCm39) |
C533Y |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,274,060 (GRCm39) |
F3997I |
possibly damaging |
Het |
| Nt5c1a |
C |
T |
4: 123,109,962 (GRCm39) |
R354W |
probably damaging |
Het |
| Or6c206 |
T |
A |
10: 129,097,204 (GRCm39) |
C125S |
probably damaging |
Het |
| Pcolce |
A |
T |
5: 137,605,738 (GRCm39) |
S200R |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,063,497 (GRCm39) |
V2213A |
possibly damaging |
Het |
| Prmt3 |
T |
A |
7: 49,430,120 (GRCm39) |
D74E |
probably benign |
Het |
| Ptk7 |
A |
G |
17: 46,876,313 (GRCm39) |
F1046S |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,311,122 (GRCm39) |
Y887H |
possibly damaging |
Het |
| Sanbr |
T |
G |
11: 23,570,225 (GRCm39) |
|
probably benign |
Het |
| Sez6l2 |
G |
A |
7: 126,561,055 (GRCm39) |
E447K |
possibly damaging |
Het |
| Shld2 |
C |
A |
14: 33,959,514 (GRCm39) |
V823F |
probably damaging |
Het |
| Snrnp70 |
C |
T |
7: 45,036,660 (GRCm39) |
|
probably null |
Het |
| Timm10 |
T |
A |
2: 84,660,208 (GRCm39) |
V49E |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,067,386 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,888,801 (GRCm39) |
M1K |
probably null |
Het |
| Usp32 |
A |
C |
11: 84,949,990 (GRCm39) |
L223V |
probably damaging |
Het |
| Zeb1 |
G |
T |
18: 5,767,906 (GRCm39) |
A806S |
probably damaging |
Het |
| Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
probably benign |
Het |
|
| Other mutations in Ankrd42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Ankrd42
|
APN |
7 |
92,233,662 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01151:Ankrd42
|
APN |
7 |
92,254,408 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01933:Ankrd42
|
APN |
7 |
92,254,493 (GRCm39) |
missense |
probably benign |
|
|
IGL03195:Ankrd42
|
APN |
7 |
92,241,066 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03397:Ankrd42
|
APN |
7 |
92,268,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Ankrd42
|
UTSW |
7 |
92,241,067 (GRCm39) |
nonsense |
probably null |
|
|
R0278:Ankrd42
|
UTSW |
7 |
92,280,865 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0839:Ankrd42
|
UTSW |
7 |
92,261,980 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1227:Ankrd42
|
UTSW |
7 |
92,254,508 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1603:Ankrd42
|
UTSW |
7 |
92,268,899 (GRCm39) |
intron |
probably benign |
|
|
R2281:Ankrd42
|
UTSW |
7 |
92,274,981 (GRCm39) |
nonsense |
probably null |
|
|
R2299:Ankrd42
|
UTSW |
7 |
92,239,462 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2324:Ankrd42
|
UTSW |
7 |
92,273,186 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2874:Ankrd42
|
UTSW |
7 |
92,254,566 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3940:Ankrd42
|
UTSW |
7 |
92,240,996 (GRCm39) |
splice site |
probably null |
|
|
R4998:Ankrd42
|
UTSW |
7 |
92,273,282 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5579:Ankrd42
|
UTSW |
7 |
92,239,390 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5954:Ankrd42
|
UTSW |
7 |
92,273,175 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6140:Ankrd42
|
UTSW |
7 |
92,241,036 (GRCm39) |
splice site |
probably null |
|
|
R6924:Ankrd42
|
UTSW |
7 |
92,231,224 (GRCm39) |
unclassified |
probably benign |
|
|
R6944:Ankrd42
|
UTSW |
7 |
92,268,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7096:Ankrd42
|
UTSW |
7 |
92,241,040 (GRCm39) |
nonsense |
probably null |
|
|
R7101:Ankrd42
|
UTSW |
7 |
92,280,752 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7155:Ankrd42
|
UTSW |
7 |
92,241,141 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7410:Ankrd42
|
UTSW |
7 |
92,259,762 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7500:Ankrd42
|
UTSW |
7 |
92,241,080 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7640:Ankrd42
|
UTSW |
7 |
92,268,843 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7737:Ankrd42
|
UTSW |
7 |
92,254,470 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8669:Ankrd42
|
UTSW |
7 |
92,268,881 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8794:Ankrd42
|
UTSW |
7 |
92,263,674 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9646:Ankrd42
|
UTSW |
7 |
92,273,257 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0065:Ankrd42
|
UTSW |
7 |
92,259,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-11-11 |
Incidental Mutation