Incidental Mutation 'IGL02074:Ankrd33b'
ID |
185937 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ankrd33b
|
Ensembl Gene |
ENSMUSG00000022237 |
Gene Name |
ankyrin repeat domain 33B |
Synonyms |
3021401C12Rik, 5730557B15Rik, 0610012A05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
IGL02074
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
31291624-31367872 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 31297807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 317
(V317F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044324]
[ENSMUST00000110410]
[ENSMUST00000123325]
[ENSMUST00000156679]
|
AlphaFold |
Q3U0L2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044324
|
SMART Domains |
Protein: ENSMUSP00000037918 Gene: ENSMUSG00000022237
Domain | Start | End | E-Value | Type |
Blast:ANK
|
81 |
109 |
2e-10 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110410
AA Change: V308F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106040 Gene: ENSMUSG00000022237 AA Change: V308F
Domain | Start | End | E-Value | Type |
Blast:ANK
|
81 |
106 |
5e-6 |
BLAST |
ANK
|
107 |
137 |
2.32e2 |
SMART |
ANK
|
141 |
170 |
8.86e-2 |
SMART |
ANK
|
176 |
205 |
1.59e-3 |
SMART |
ANK
|
210 |
240 |
1.27e3 |
SMART |
low complexity region
|
363 |
382 |
N/A |
INTRINSIC |
low complexity region
|
388 |
410 |
N/A |
INTRINSIC |
coiled coil region
|
440 |
470 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123325
AA Change: V317F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118984 Gene: ENSMUSG00000022237 AA Change: V317F
Domain | Start | End | E-Value | Type |
Blast:ANK
|
81 |
109 |
5e-9 |
BLAST |
ANK
|
116 |
146 |
6.51e0 |
SMART |
ANK
|
150 |
179 |
8.86e-2 |
SMART |
ANK
|
185 |
214 |
1.59e-3 |
SMART |
ANK
|
219 |
249 |
1.27e3 |
SMART |
low complexity region
|
372 |
391 |
N/A |
INTRINSIC |
low complexity region
|
397 |
419 |
N/A |
INTRINSIC |
coiled coil region
|
449 |
479 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156679
|
SMART Domains |
Protein: ENSMUSP00000117974 Gene: ENSMUSG00000022237
Domain | Start | End | E-Value | Type |
Blast:ANK
|
81 |
109 |
1e-9 |
BLAST |
ANK
|
116 |
146 |
6.51e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227867
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
C |
11: 110,184,176 (GRCm39) |
S974G |
probably benign |
Het |
Abi2 |
T |
C |
1: 60,486,466 (GRCm39) |
V209A |
probably damaging |
Het |
Arcn1 |
A |
G |
9: 44,670,309 (GRCm39) |
C106R |
probably benign |
Het |
Arhgap35 |
T |
C |
7: 16,296,980 (GRCm39) |
H695R |
probably benign |
Het |
Bag4 |
G |
T |
8: 26,259,383 (GRCm39) |
T272K |
possibly damaging |
Het |
Cnot6 |
T |
C |
11: 49,580,070 (GRCm39) |
H74R |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dab1 |
C |
A |
4: 104,585,051 (GRCm39) |
A397D |
possibly damaging |
Het |
Dhrs7b |
C |
A |
11: 60,742,580 (GRCm39) |
Q91K |
probably benign |
Het |
Dixdc1 |
C |
T |
9: 50,613,317 (GRCm39) |
V212M |
probably benign |
Het |
Dnaaf11 |
T |
C |
15: 66,361,339 (GRCm39) |
N54S |
probably damaging |
Het |
Eea1 |
A |
G |
10: 95,873,349 (GRCm39) |
E1137G |
probably damaging |
Het |
Ercc8 |
T |
C |
13: 108,295,318 (GRCm39) |
|
probably benign |
Het |
Fam163b |
C |
T |
2: 27,003,570 (GRCm39) |
C28Y |
probably damaging |
Het |
Fgd6 |
A |
T |
10: 93,963,297 (GRCm39) |
I1132F |
probably damaging |
Het |
Grin1 |
C |
T |
2: 25,188,514 (GRCm39) |
V432I |
possibly damaging |
Het |
Herc1 |
A |
G |
9: 66,358,265 (GRCm39) |
S2449G |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,737,192 (GRCm39) |
|
probably benign |
Het |
L1cam |
A |
G |
X: 72,906,619 (GRCm39) |
W275R |
probably damaging |
Het |
Magi1 |
A |
G |
6: 93,722,579 (GRCm39) |
V660A |
probably damaging |
Het |
Mctp2 |
A |
T |
7: 71,811,006 (GRCm39) |
I656K |
probably damaging |
Het |
Mtcl1 |
T |
C |
17: 66,673,463 (GRCm39) |
D633G |
possibly damaging |
Het |
Nexmif |
A |
T |
X: 103,131,497 (GRCm39) |
M140K |
probably damaging |
Het |
Or55b3 |
G |
T |
7: 102,126,679 (GRCm39) |
H133N |
probably benign |
Het |
Or7g33 |
A |
T |
9: 19,449,148 (GRCm39) |
I26N |
possibly damaging |
Het |
Or8d23 |
A |
T |
9: 38,841,979 (GRCm39) |
T171S |
probably benign |
Het |
R3hdm1 |
A |
G |
1: 128,096,775 (GRCm39) |
T146A |
possibly damaging |
Het |
Rnf123 |
A |
T |
9: 107,944,088 (GRCm39) |
L508Q |
probably damaging |
Het |
Scaf4 |
G |
T |
16: 90,039,808 (GRCm39) |
P812T |
unknown |
Het |
Slc45a2 |
A |
G |
15: 11,000,903 (GRCm39) |
M1V |
probably null |
Het |
Ttr |
T |
C |
18: 20,799,580 (GRCm39) |
V46A |
probably benign |
Het |
Ubxn8 |
T |
C |
8: 34,113,206 (GRCm39) |
K216R |
possibly damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,774,603 (GRCm39) |
I251V |
probably benign |
Het |
Xlr |
A |
T |
X: 52,798,101 (GRCm39) |
|
probably benign |
Het |
Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
probably damaging |
Het |
|
Other mutations in Ankrd33b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02031:Ankrd33b
|
APN |
15 |
31,325,329 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02120:Ankrd33b
|
APN |
15 |
31,367,202 (GRCm39) |
missense |
possibly damaging |
0.91 |
Opposition
|
UTSW |
15 |
31,325,231 (GRCm39) |
critical splice donor site |
probably null |
|
R0046:Ankrd33b
|
UTSW |
15 |
31,367,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R0082:Ankrd33b
|
UTSW |
15 |
31,297,935 (GRCm39) |
missense |
probably benign |
0.00 |
R0357:Ankrd33b
|
UTSW |
15 |
31,305,272 (GRCm39) |
missense |
probably benign |
0.02 |
R0518:Ankrd33b
|
UTSW |
15 |
31,367,432 (GRCm39) |
missense |
probably damaging |
0.99 |
R0521:Ankrd33b
|
UTSW |
15 |
31,367,432 (GRCm39) |
missense |
probably damaging |
0.99 |
R1512:Ankrd33b
|
UTSW |
15 |
31,367,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R1708:Ankrd33b
|
UTSW |
15 |
31,305,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R1818:Ankrd33b
|
UTSW |
15 |
31,367,267 (GRCm39) |
missense |
probably damaging |
0.96 |
R2005:Ankrd33b
|
UTSW |
15 |
31,297,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R4648:Ankrd33b
|
UTSW |
15 |
31,325,170 (GRCm39) |
makesense |
probably null |
|
R5391:Ankrd33b
|
UTSW |
15 |
31,325,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R6292:Ankrd33b
|
UTSW |
15 |
31,325,231 (GRCm39) |
critical splice donor site |
probably null |
|
R6639:Ankrd33b
|
UTSW |
15 |
31,297,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R7105:Ankrd33b
|
UTSW |
15 |
31,305,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R7742:Ankrd33b
|
UTSW |
15 |
31,367,538 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
R8431:Ankrd33b
|
UTSW |
15 |
31,305,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R8900:Ankrd33b
|
UTSW |
15 |
31,297,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R8946:Ankrd33b
|
UTSW |
15 |
31,297,894 (GRCm39) |
missense |
probably benign |
0.03 |
R9203:Ankrd33b
|
UTSW |
15 |
31,298,028 (GRCm39) |
missense |
probably benign |
0.28 |
R9344:Ankrd33b
|
UTSW |
15 |
31,297,903 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Ankrd33b
|
UTSW |
15 |
31,305,279 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2014-05-07 |