Incidental Mutation 'IGL00849:Ankdd1b'
| ID |
8870 |
| 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 # |
IGL00849
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
96552642-96607766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 96557241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 397
(E397D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055607]
[ENSMUST00000099295]
|
| AlphaFold |
Q14DN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055607
AA Change: E397D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061643
Gene: ENSMUSG00000047117
AA Change: E397D
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgdia |
C |
A |
11: 120,471,065 (GRCm39) |
D45Y |
probably damaging |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Dbn1 |
G |
T |
13: 55,630,002 (GRCm39) |
R147S |
probably damaging |
Het |
| Dip2a |
A |
T |
10: 76,128,152 (GRCm39) |
I36N |
probably damaging |
Het |
| Elmo1 |
A |
T |
13: 20,766,493 (GRCm39) |
K607* |
probably null |
Het |
| Epha6 |
T |
G |
16: 60,245,474 (GRCm39) |
I242L |
possibly damaging |
Het |
| Epha7 |
A |
G |
4: 28,870,662 (GRCm39) |
E313G |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,285,021 (GRCm39) |
I347F |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,742,612 (GRCm39) |
K242R |
probably benign |
Het |
| Kif1c |
G |
T |
11: 70,596,953 (GRCm39) |
L313F |
probably damaging |
Het |
| Ncoa6 |
T |
A |
2: 155,263,608 (GRCm39) |
Q275H |
possibly damaging |
Het |
| Phf20l1 |
C |
A |
15: 66,508,681 (GRCm39) |
P820T |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,770,665 (GRCm39) |
T487A |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,600,364 (GRCm39) |
L4614I |
possibly damaging |
Het |
| Tbx19 |
T |
A |
1: 164,979,609 (GRCm39) |
T187S |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,970,173 (GRCm39) |
|
probably benign |
Het |
| Tsnaxip1 |
G |
T |
8: 106,568,800 (GRCm39) |
D430Y |
probably damaging |
Het |
| Uvssa |
G |
T |
5: 33,566,192 (GRCm39) |
G445V |
probably benign |
Het |
| Zfp628 |
C |
A |
7: 4,923,805 (GRCm39) |
L676I |
probably damaging |
Het |
| Zfp871 |
A |
G |
17: 32,994,873 (GRCm39) |
Y101H |
probably benign |
Het |
|
| Other mutations in Ankdd1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Ankdd1b
|
APN |
13 |
96,554,338 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation