Incidental Mutation 'IGL02120:Ankrd33b'
| ID |
280574 |
| 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: 0.084)
|
| Stock # |
IGL02120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
31291624-31367872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31367202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 113
(T113A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044324]
[ENSMUST00000076942]
[ENSMUST00000110410]
[ENSMUST00000123325]
[ENSMUST00000156679]
|
| AlphaFold |
Q3U0L2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044324
AA Change: T113A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037918
Gene: ENSMUSG00000022237
AA Change: T113A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
81 |
109 |
2e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076942
AA Change: T113A
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000076209
Gene: ENSMUSG00000022237
AA Change: T113A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
81 |
109 |
2e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110410
|
| SMART Domains |
Protein: ENSMUSP00000106040
Gene: ENSMUSG00000022237
| 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 benign
Transcript: ENSMUST00000123325
AA Change: T113A
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000118984
Gene: ENSMUSG00000022237
AA Change: T113A
| 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
AA Change: T113A
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000117974
Gene: ENSMUSG00000022237
AA Change: T113A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
81 |
109 |
1e-9 |
BLAST |
|
ANK
|
116 |
146 |
6.51e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227460
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,087,654 (GRCm39) |
Y1037C |
probably damaging |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Aox3 |
T |
A |
1: 58,166,809 (GRCm39) |
N177K |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,797,906 (GRCm39) |
V532E |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Caskin1 |
G |
T |
17: 24,719,916 (GRCm39) |
G401V |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,600,771 (GRCm39) |
M950K |
probably damaging |
Het |
| Cfap107 |
C |
T |
4: 144,144,981 (GRCm39) |
R195H |
probably benign |
Het |
| Chrd |
T |
C |
16: 20,553,291 (GRCm39) |
V211A |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,542 (GRCm39) |
N212S |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,946 (GRCm39) |
D246G |
probably damaging |
Het |
| Dlst |
T |
C |
12: 85,165,342 (GRCm39) |
S82P |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,027,245 (GRCm39) |
L2118M |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,534,876 (GRCm39) |
K2795E |
possibly damaging |
Het |
| Enpp5 |
T |
A |
17: 44,391,736 (GRCm39) |
M55K |
probably benign |
Het |
| Epdr1 |
A |
T |
13: 19,778,641 (GRCm39) |
S50T |
probably damaging |
Het |
| Gm7808 |
T |
A |
9: 19,839,313 (GRCm39) |
|
probably benign |
Het |
| Huwe1 |
T |
A |
X: 150,690,386 (GRCm39) |
F2485I |
possibly damaging |
Het |
| Kcnb2 |
C |
T |
1: 15,780,085 (GRCm39) |
T319M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,023,784 (GRCm39) |
V60M |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,671,693 (GRCm39) |
L79Q |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,433,451 (GRCm39) |
|
probably null |
Het |
| Mob2 |
C |
A |
7: 141,564,035 (GRCm39) |
V33L |
possibly damaging |
Het |
| Mus81 |
G |
A |
19: 5,535,661 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,044,169 (GRCm39) |
G490D |
probably damaging |
Het |
| Or13n4 |
A |
C |
7: 106,422,905 (GRCm39) |
V276G |
possibly damaging |
Het |
| Pbp2 |
A |
G |
6: 135,286,816 (GRCm39) |
V177A |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,158,326 (GRCm39) |
D656G |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,069 (GRCm39) |
|
probably benign |
Het |
| Prp2rt |
G |
T |
13: 97,235,285 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,503,333 (GRCm39) |
E775G |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 115,956,181 (GRCm39) |
I549V |
probably benign |
Het |
| Ranbp10 |
T |
C |
8: 106,532,214 (GRCm39) |
Y145C |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,846,884 (GRCm39) |
T223S |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,948,831 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,993,480 (GRCm39) |
D2085G |
probably damaging |
Het |
| Szt2 |
C |
T |
4: 118,245,761 (GRCm39) |
R1064Q |
probably benign |
Het |
| Taar3 |
A |
G |
10: 23,826,065 (GRCm39) |
T204A |
probably benign |
Het |
| Tdpoz1 |
A |
G |
3: 93,577,750 (GRCm39) |
S345P |
probably damaging |
Het |
| Tgm4 |
T |
A |
9: 122,875,594 (GRCm39) |
I149N |
probably damaging |
Het |
| Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
| Vegfc |
T |
C |
8: 54,634,436 (GRCm39) |
F372L |
possibly damaging |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,592,997 (GRCm39) |
L786M |
probably benign |
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 |
|
IGL02074:Ankrd33b
|
APN |
15 |
31,297,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation