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 |
Incidental Mutation