Incidental Mutation 'R3940:Ankrd42'
ID |
307410 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd42
|
Ensembl Gene |
ENSMUSG00000041343 |
Gene Name |
ankyrin repeat domain 42 |
Synonyms |
Ikbn, 4933417L02Rik |
MMRRC Submission |
040922-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R3940 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
92230931-92286350 bp(-) (GRCm39) |
Type of Mutation |
splice site (43 bp from exon) |
DNA Base Change (assembly) |
T to C
at 92240996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056106]
[ENSMUST00000118157]
[ENSMUST00000126305]
|
AlphaFold |
Q3V096 |
Predicted Effect |
probably null
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 null
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
95% (35/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Acsm3 |
A |
G |
7: 119,373,109 (GRCm39) |
E204G |
probably benign |
Het |
Acta2 |
A |
T |
19: 34,220,880 (GRCm39) |
I276N |
possibly damaging |
Het |
Ankrd16 |
T |
C |
2: 11,789,192 (GRCm39) |
C260R |
probably benign |
Het |
Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
Calm5 |
A |
T |
13: 3,904,485 (GRCm39) |
I37F |
possibly damaging |
Het |
Casq1 |
A |
G |
1: 172,047,103 (GRCm39) |
V52A |
possibly damaging |
Het |
Col22a1 |
A |
T |
15: 71,853,782 (GRCm39) |
L260* |
probably null |
Het |
Cttnbp2 |
C |
A |
6: 18,420,974 (GRCm39) |
V846L |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,444,754 (GRCm39) |
T627A |
probably benign |
Het |
Eogt |
T |
C |
6: 97,090,875 (GRCm39) |
I421M |
probably damaging |
Het |
Fam135a |
T |
A |
1: 24,096,556 (GRCm39) |
H63L |
probably damaging |
Het |
Fmo3 |
T |
A |
1: 162,791,555 (GRCm39) |
T241S |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
Gm14393 |
T |
C |
2: 174,903,420 (GRCm39) |
|
probably null |
Het |
Kcna5 |
C |
T |
6: 126,510,614 (GRCm39) |
V505I |
probably damaging |
Het |
Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
Or7a41 |
T |
A |
10: 78,871,038 (GRCm39) |
I136N |
probably damaging |
Het |
Or8k40 |
T |
A |
2: 86,584,275 (GRCm39) |
D269V |
possibly damaging |
Het |
Pcdhb7 |
T |
C |
18: 37,477,021 (GRCm39) |
L719P |
probably damaging |
Het |
Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
Pik3ip1 |
A |
G |
11: 3,281,987 (GRCm39) |
N48S |
probably damaging |
Het |
Pkn2 |
G |
A |
3: 142,499,672 (GRCm39) |
S951L |
probably damaging |
Het |
Prrc2a |
T |
C |
17: 35,376,474 (GRCm39) |
H772R |
possibly damaging |
Het |
Ric1 |
T |
C |
19: 29,548,162 (GRCm39) |
Y277H |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf123 |
A |
T |
9: 107,941,234 (GRCm39) |
|
probably benign |
Het |
Robo1 |
T |
C |
16: 72,806,631 (GRCm39) |
S1166P |
probably benign |
Het |
S100a10 |
A |
G |
3: 93,468,383 (GRCm39) |
E38G |
probably benign |
Het |
Slc34a1 |
A |
T |
13: 55,560,983 (GRCm39) |
I483F |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,084,848 (GRCm39) |
N600S |
probably benign |
Het |
Ube3c |
T |
A |
5: 29,824,358 (GRCm39) |
N517K |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGGCTGACAACACTACATTG -3'
(R):5'- TGCCTTTCAGTGAGAGCTC -3'
Sequencing Primer
(F):5'- ATAGTCCTGTCTGTCCTAGAACTCAG -3'
(R):5'- GCCTTTCAGTGAGAGCTCATAAG -3'
|
Posted On |
2015-04-17 |