Incidental Mutation 'R1227:Ankrd42'
ID |
172410 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd42
|
Ensembl Gene |
ENSMUSG00000041343 |
Gene Name |
ankyrin repeat domain 42 |
Synonyms |
Ikbn, 4933417L02Rik |
MMRRC Submission |
039296-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R1227 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
92230931-92286350 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 92254508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 367
(H367L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113767
(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: H367L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000061208 Gene: ENSMUSG00000041343 AA Change: H367L
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: H367L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113767 Gene: ENSMUSG00000041343 AA Change: H367L
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207131
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207971
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207151
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arvcf |
C |
T |
16: 18,207,169 (GRCm39) |
R43C |
probably benign |
Het |
Camk1g |
T |
C |
1: 193,029,741 (GRCm39) |
E453G |
possibly damaging |
Het |
Cmya5 |
A |
T |
13: 93,230,954 (GRCm39) |
L1378Q |
probably damaging |
Het |
Cplx1 |
T |
C |
5: 108,673,262 (GRCm39) |
D53G |
possibly damaging |
Het |
Ddx31 |
A |
G |
2: 28,747,187 (GRCm39) |
E222G |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Fermt2 |
A |
G |
14: 45,697,447 (GRCm39) |
S635P |
probably benign |
Het |
Gls2 |
T |
C |
10: 128,035,533 (GRCm39) |
S104P |
probably damaging |
Het |
Hnrnpul2 |
T |
G |
19: 8,800,601 (GRCm39) |
S226A |
possibly damaging |
Het |
Klk1b5 |
T |
C |
7: 43,496,670 (GRCm39) |
|
probably null |
Het |
Nuak1 |
T |
A |
10: 84,276,173 (GRCm39) |
T17S |
probably benign |
Het |
Or5b101 |
T |
C |
19: 13,005,217 (GRCm39) |
M159V |
probably benign |
Het |
Or5p54 |
C |
A |
7: 107,554,259 (GRCm39) |
S137Y |
probably damaging |
Het |
Prag1 |
G |
A |
8: 36,607,105 (GRCm39) |
E949K |
probably damaging |
Het |
Pramel25 |
A |
G |
4: 143,520,134 (GRCm39) |
H126R |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,808,372 (GRCm39) |
L468P |
probably damaging |
Het |
Sez6l |
C |
A |
5: 112,621,330 (GRCm39) |
C248F |
probably damaging |
Het |
Sstr2 |
T |
C |
11: 113,515,711 (GRCm39) |
I210T |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,620,629 (GRCm39) |
G394S |
probably benign |
Het |
Zfp108 |
T |
A |
7: 23,959,885 (GRCm39) |
W159R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCACCAGCCCTACTGATTGTC -3'
(R):5'- TTCCCACATAGCTGGGTACAGGTC -3'
Sequencing Primer
(F):5'- tcattcccctgtctttgcc -3'
(R):5'- GATCTCAGTGACCTTCAGGTACAG -3'
|
Posted On |
2014-04-24 |