Incidental Mutation 'IGL01659:Ankrd11'
ID |
103113 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ankrd11
|
Ensembl Gene |
ENSMUSG00000035569 |
Gene Name |
ankyrin repeat domain 11 |
Synonyms |
3010027A04Rik, Yod, 2410104C19Rik, 9530048I21Rik |
Accession Numbers |
|
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01659
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
122883822-123042277 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122895371 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 581
(S581P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095938
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098333]
[ENSMUST00000098334]
[ENSMUST00000127664]
[ENSMUST00000172906]
|
AlphaFold |
E9Q4F7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098333
AA Change: S581P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095938 Gene: ENSMUSG00000035569 AA Change: S581P
Domain | Start | End | E-Value | Type |
ANK
|
188 |
217 |
2.58e-3 |
SMART |
ANK
|
221 |
250 |
1.31e-4 |
SMART |
ANK
|
254 |
283 |
5.04e-6 |
SMART |
low complexity region
|
311 |
324 |
N/A |
INTRINSIC |
low complexity region
|
366 |
377 |
N/A |
INTRINSIC |
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
low complexity region
|
470 |
487 |
N/A |
INTRINSIC |
low complexity region
|
499 |
521 |
N/A |
INTRINSIC |
low complexity region
|
534 |
549 |
N/A |
INTRINSIC |
low complexity region
|
596 |
609 |
N/A |
INTRINSIC |
low complexity region
|
649 |
669 |
N/A |
INTRINSIC |
coiled coil region
|
786 |
826 |
N/A |
INTRINSIC |
low complexity region
|
867 |
877 |
N/A |
INTRINSIC |
low complexity region
|
965 |
984 |
N/A |
INTRINSIC |
low complexity region
|
1040 |
1055 |
N/A |
INTRINSIC |
low complexity region
|
1058 |
1082 |
N/A |
INTRINSIC |
low complexity region
|
1187 |
1200 |
N/A |
INTRINSIC |
low complexity region
|
1204 |
1227 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1289 |
N/A |
INTRINSIC |
low complexity region
|
1294 |
1306 |
N/A |
INTRINSIC |
coiled coil region
|
1374 |
1406 |
N/A |
INTRINSIC |
low complexity region
|
1476 |
1496 |
N/A |
INTRINSIC |
low complexity region
|
1508 |
1523 |
N/A |
INTRINSIC |
low complexity region
|
1526 |
1547 |
N/A |
INTRINSIC |
coiled coil region
|
1598 |
1625 |
N/A |
INTRINSIC |
low complexity region
|
1770 |
1781 |
N/A |
INTRINSIC |
low complexity region
|
1874 |
1885 |
N/A |
INTRINSIC |
low complexity region
|
1913 |
1922 |
N/A |
INTRINSIC |
low complexity region
|
1969 |
1979 |
N/A |
INTRINSIC |
low complexity region
|
2035 |
2045 |
N/A |
INTRINSIC |
low complexity region
|
2057 |
2071 |
N/A |
INTRINSIC |
low complexity region
|
2162 |
2179 |
N/A |
INTRINSIC |
low complexity region
|
2191 |
2209 |
N/A |
INTRINSIC |
low complexity region
|
2224 |
2236 |
N/A |
INTRINSIC |
low complexity region
|
2250 |
2263 |
N/A |
INTRINSIC |
low complexity region
|
2294 |
2305 |
N/A |
INTRINSIC |
low complexity region
|
2391 |
2409 |
N/A |
INTRINSIC |
low complexity region
|
2445 |
2455 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098334
AA Change: S560P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000095939 Gene: ENSMUSG00000035569 AA Change: S560P
Domain | Start | End | E-Value | Type |
ANK
|
167 |
196 |
2.58e-3 |
SMART |
ANK
|
200 |
229 |
1.31e-4 |
SMART |
ANK
|
233 |
262 |
5.04e-6 |
SMART |
low complexity region
|
290 |
303 |
N/A |
INTRINSIC |
low complexity region
|
345 |
356 |
N/A |
INTRINSIC |
low complexity region
|
408 |
419 |
N/A |
INTRINSIC |
low complexity region
|
449 |
466 |
N/A |
INTRINSIC |
low complexity region
|
478 |
500 |
N/A |
INTRINSIC |
low complexity region
|
513 |
528 |
N/A |
INTRINSIC |
low complexity region
|
575 |
588 |
N/A |
INTRINSIC |
low complexity region
|
628 |
648 |
N/A |
INTRINSIC |
coiled coil region
|
765 |
805 |
N/A |
INTRINSIC |
low complexity region
|
846 |
856 |
N/A |
INTRINSIC |
low complexity region
|
944 |
963 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1034 |
N/A |
INTRINSIC |
low complexity region
|
1037 |
1061 |
N/A |
INTRINSIC |
low complexity region
|
1166 |
1179 |
N/A |
INTRINSIC |
low complexity region
|
1183 |
1206 |
N/A |
INTRINSIC |
low complexity region
|
1247 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1273 |
1285 |
N/A |
INTRINSIC |
coiled coil region
|
1353 |
1385 |
N/A |
INTRINSIC |
low complexity region
|
1455 |
1475 |
N/A |
INTRINSIC |
low complexity region
|
1487 |
1502 |
N/A |
INTRINSIC |
low complexity region
|
1505 |
1526 |
N/A |
INTRINSIC |
coiled coil region
|
1577 |
1604 |
N/A |
INTRINSIC |
low complexity region
|
1749 |
1760 |
N/A |
INTRINSIC |
low complexity region
|
1853 |
1864 |
N/A |
INTRINSIC |
low complexity region
|
1892 |
1901 |
N/A |
INTRINSIC |
low complexity region
|
1948 |
1958 |
N/A |
INTRINSIC |
low complexity region
|
2014 |
2024 |
N/A |
INTRINSIC |
low complexity region
|
2036 |
2050 |
N/A |
INTRINSIC |
low complexity region
|
2141 |
2158 |
N/A |
INTRINSIC |
low complexity region
|
2170 |
2188 |
N/A |
INTRINSIC |
low complexity region
|
2203 |
2215 |
N/A |
INTRINSIC |
low complexity region
|
2229 |
2242 |
N/A |
INTRINSIC |
low complexity region
|
2273 |
2284 |
N/A |
INTRINSIC |
low complexity region
|
2370 |
2388 |
N/A |
INTRINSIC |
low complexity region
|
2424 |
2434 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172906
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211940
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212337
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212728
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012] PHENOTYPE: Mice homozygous for a spontaneous allele die by E9.5, are small and fail to turn. Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 24,870,774 |
|
probably benign |
Het |
Arl13b |
T |
C |
16: 62,802,750 |
S370G |
possibly damaging |
Het |
Cdr2 |
G |
T |
7: 120,958,549 |
A251E |
probably damaging |
Het |
Clec4a4 |
A |
T |
6: 123,023,935 |
E202D |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,446,172 |
|
probably benign |
Het |
Dhfr |
A |
T |
13: 92,355,670 |
|
probably null |
Het |
Flnc |
A |
G |
6: 29,448,671 |
T1303A |
probably damaging |
Het |
Mug1 |
A |
T |
6: 121,870,660 |
|
probably benign |
Het |
Napepld |
A |
G |
5: 21,675,716 |
V227A |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,559,449 |
E487G |
probably benign |
Het |
Nlrp2 |
A |
G |
7: 5,328,035 |
L454P |
probably damaging |
Het |
Olfr1049 |
A |
T |
2: 86,255,185 |
C169* |
probably null |
Het |
Rad51 |
T |
A |
2: 119,118,702 |
I61K |
probably benign |
Het |
Rfx8 |
A |
T |
1: 39,670,573 |
H431Q |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,474,443 |
N2725S |
probably damaging |
Het |
Trim16 |
A |
G |
11: 62,820,695 |
E64G |
probably benign |
Het |
Zfp879 |
T |
C |
11: 50,838,454 |
Y39C |
probably damaging |
Het |
|
Other mutations in Ankrd11 |
|
Posted On |
2014-01-21 |