Incidental Mutation 'IGL01151:Ankrd42'
| ID |
51678 |
| 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: 0.070)
|
| Stock # |
IGL01151
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
92230931-92286350 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 92254408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056106]
[ENSMUST00000118157]
[ENSMUST00000126305]
[ENSMUST00000138267]
|
| AlphaFold |
Q3V096 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056106
|
| SMART Domains |
Protein: ENSMUSP00000061208
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 |
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: ENSMUST00000118157
|
| SMART Domains |
Protein: ENSMUSP00000113767
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 |
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 |
probably benign
Transcript: ENSMUST00000138267
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142971
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,553,518 (GRCm39) |
Q5452R |
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,816,027 (GRCm39) |
D157G |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,350,643 (GRCm39) |
V18E |
possibly damaging |
Het |
| Ep300 |
T |
A |
15: 81,507,673 (GRCm39) |
|
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,550,848 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,412,754 (GRCm39) |
T59A |
probably benign |
Het |
| Gbp5 |
T |
C |
3: 142,206,355 (GRCm39) |
L13P |
probably damaging |
Het |
| Gpr161 |
G |
T |
1: 165,149,078 (GRCm39) |
L482F |
probably damaging |
Het |
| Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,310,503 (GRCm39) |
F429V |
probably damaging |
Het |
| Kbtbd11 |
G |
T |
8: 15,079,176 (GRCm39) |
D592Y |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,958,690 (GRCm39) |
G465V |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,435,601 (GRCm39) |
Y974F |
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,473,111 (GRCm39) |
Y169C |
probably damaging |
Het |
| Nos1ap |
A |
T |
1: 170,416,845 (GRCm39) |
I30N |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,492,516 (GRCm39) |
I157T |
possibly damaging |
Het |
| Or10ag60 |
A |
T |
2: 87,438,323 (GRCm39) |
D197V |
probably damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,545,248 (GRCm39) |
I108N |
probably damaging |
Het |
| Pgf |
A |
G |
12: 85,218,510 (GRCm39) |
L80P |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 92,001,777 (GRCm39) |
L459P |
probably damaging |
Het |
| Slc9a1 |
A |
T |
4: 133,139,300 (GRCm39) |
I173F |
probably damaging |
Het |
| Taf15 |
T |
C |
11: 83,378,197 (GRCm39) |
S146P |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Thumpd1 |
C |
T |
7: 119,317,418 (GRCm39) |
R161Q |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,116,174 (GRCm39) |
I5T |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,442 (GRCm39) |
V108A |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,740,469 (GRCm39) |
S199R |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,086 (GRCm39) |
Y742F |
probably damaging |
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 |
|
|
IGL01444:Ankrd42
|
APN |
7 |
92,259,793 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
2013-06-21 |
Incidental Mutation