Incidental Mutation 'IGL00841:Ankdd1b'
| ID |
28812 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankdd1b
|
| Ensembl Gene |
ENSMUSG00000047117 |
| Gene Name |
ankyrin repeat and death domain containing 1B |
| Synonyms |
9330128J19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL00841
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
96552642-96607766 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 96554338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055607]
[ENSMUST00000099295]
|
| AlphaFold |
Q14DN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055607
|
| SMART Domains |
Protein: ENSMUSP00000061643
Gene: ENSMUSG00000047117
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
4 |
33 |
2.54e-2 |
SMART |
|
ANK
|
37 |
66 |
6.36e-3 |
SMART |
|
ANK
|
70 |
101 |
5.09e-2 |
SMART |
|
ANK
|
105 |
137 |
1.07e0 |
SMART |
|
ANK
|
138 |
167 |
1.27e-2 |
SMART |
|
ANK
|
171 |
200 |
3.65e-3 |
SMART |
|
ANK
|
204 |
233 |
2.99e1 |
SMART |
|
ANK
|
237 |
266 |
4.07e-1 |
SMART |
|
ANK
|
270 |
299 |
6.92e-4 |
SMART |
|
ANK
|
303 |
335 |
1.76e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099295
|
| SMART Domains |
Protein: ENSMUSP00000096898
Gene: ENSMUSG00000021671
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
175 |
206 |
N/A |
INTRINSIC |
|
coiled coil region
|
300 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
456 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222792
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl2 |
C |
A |
19: 6,185,999 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,225,689 (GRCm39) |
S514P |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,766,164 (GRCm39) |
S150* |
probably null |
Het |
| Ces1g |
T |
A |
8: 94,029,615 (GRCm39) |
D539V |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,068,064 (GRCm39) |
D752G |
probably damaging |
Het |
| Ctsd |
A |
C |
7: 141,936,418 (GRCm39) |
S128A |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dscam |
G |
A |
16: 96,621,077 (GRCm39) |
L544F |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,346,189 (GRCm39) |
I1566N |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,412,095 (GRCm39) |
H148Q |
probably benign |
Het |
| Ighv1-64 |
A |
T |
12: 115,471,596 (GRCm39) |
M1K |
probably null |
Het |
| Ivd |
T |
C |
2: 118,707,383 (GRCm39) |
V299A |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,222,129 (GRCm39) |
I292V |
probably benign |
Het |
| Mfhas1 |
T |
A |
8: 36,058,040 (GRCm39) |
N838K |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,220,458 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
| Scel |
A |
T |
14: 103,767,431 (GRCm39) |
Q30L |
probably benign |
Het |
| Skp2 |
A |
C |
15: 9,139,574 (GRCm39) |
S40R |
probably benign |
Het |
| Tm9sf1 |
T |
A |
14: 55,880,184 (GRCm39) |
K71M |
probably damaging |
Het |
| Vegfb |
A |
G |
19: 6,963,846 (GRCm39) |
W38R |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,235,094 (GRCm39) |
F588V |
probably damaging |
Het |
| Zfp990 |
C |
A |
4: 145,264,438 (GRCm39) |
L479M |
probably damaging |
Het |
|
| Other mutations in Ankdd1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00849:Ankdd1b
|
APN |
13 |
96,557,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02805:Ankdd1b
|
APN |
13 |
96,580,810 (GRCm39) |
missense |
probably benign |
|
|
IGL02980:Ankdd1b
|
UTSW |
13 |
96,572,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1454:Ankdd1b
|
UTSW |
13 |
96,569,913 (GRCm39) |
splice site |
probably null |
|
|
R1730:Ankdd1b
|
UTSW |
13 |
96,597,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1759:Ankdd1b
|
UTSW |
13 |
96,556,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Ankdd1b
|
UTSW |
13 |
96,591,091 (GRCm39) |
nonsense |
probably null |
|
|
R4719:Ankdd1b
|
UTSW |
13 |
96,554,255 (GRCm39) |
unclassified |
probably benign |
|
|
R5262:Ankdd1b
|
UTSW |
13 |
96,557,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Ankdd1b
|
UTSW |
13 |
96,591,388 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6418:Ankdd1b
|
UTSW |
13 |
96,597,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6869:Ankdd1b
|
UTSW |
13 |
96,580,799 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7126:Ankdd1b
|
UTSW |
13 |
96,566,370 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7442:Ankdd1b
|
UTSW |
13 |
96,561,268 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7840:Ankdd1b
|
UTSW |
13 |
96,556,306 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7921:Ankdd1b
|
UTSW |
13 |
96,561,288 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8328:Ankdd1b
|
UTSW |
13 |
96,591,374 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9553:Ankdd1b
|
UTSW |
13 |
96,591,294 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2013-04-17 |
Incidental Mutation