Incidental Mutation 'IGL02807:Ankrd63'
ID |
360466 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ankrd63
|
Ensembl Gene |
ENSMUSG00000078137 |
Gene Name |
ankyrin repeat domain 63 |
Synonyms |
Gm1337, LOC383787 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
IGL02807
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
118529584-118534444 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to T
at 118533789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102524]
[ENSMUST00000104937]
[ENSMUST00000159756]
|
AlphaFold |
A2ARS0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102524
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
Pfam:EF-hand_like
|
220 |
311 |
2.5e-24 |
PFAM |
PLCXc
|
312 |
463 |
2.87e-79 |
SMART |
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
PLCYc
|
547 |
663 |
2.39e-67 |
SMART |
C2
|
684 |
783 |
9.17e-15 |
SMART |
low complexity region
|
902 |
925 |
N/A |
INTRINSIC |
low complexity region
|
929 |
940 |
N/A |
INTRINSIC |
Pfam:PLC-beta_C
|
974 |
1149 |
4.7e-72 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000104937
AA Change: A44E
|
SMART Domains |
Protein: ENSMUSP00000100542 Gene: ENSMUSG00000078137 AA Change: A44E
Domain | Start | End | E-Value | Type |
ANK
|
46 |
79 |
1.87e0 |
SMART |
ANK
|
83 |
112 |
3.23e-4 |
SMART |
ANK
|
116 |
145 |
3.44e1 |
SMART |
low complexity region
|
193 |
247 |
N/A |
INTRINSIC |
low complexity region
|
331 |
341 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129153
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159756
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
Pfam:EF-hand_like
|
197 |
288 |
7.1e-26 |
PFAM |
PLCXc
|
289 |
440 |
2.87e-79 |
SMART |
low complexity region
|
481 |
495 |
N/A |
INTRINSIC |
PLCYc
|
524 |
640 |
2.39e-67 |
SMART |
C2
|
661 |
760 |
9.17e-15 |
SMART |
low complexity region
|
879 |
902 |
N/A |
INTRINSIC |
low complexity region
|
906 |
917 |
N/A |
INTRINSIC |
Pfam:PLC-beta_C
|
946 |
1129 |
5.1e-68 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
C |
A |
13: 70,886,897 (GRCm39) |
|
probably null |
Het |
Ankra2 |
T |
C |
13: 98,408,250 (GRCm39) |
L73P |
probably damaging |
Het |
Cars1 |
A |
T |
7: 143,123,209 (GRCm39) |
I469N |
possibly damaging |
Het |
Chn2 |
A |
G |
6: 54,272,898 (GRCm39) |
E183G |
possibly damaging |
Het |
Fstl4 |
A |
T |
11: 53,077,501 (GRCm39) |
T753S |
probably benign |
Het |
Igf2r |
G |
T |
17: 12,938,770 (GRCm39) |
N511K |
probably damaging |
Het |
Il12rb2 |
A |
T |
6: 67,328,300 (GRCm39) |
I310N |
probably damaging |
Het |
Kcnc3 |
C |
A |
7: 44,245,381 (GRCm39) |
P557Q |
probably damaging |
Het |
Mrps36 |
A |
G |
13: 100,877,674 (GRCm39) |
|
probably null |
Het |
Mug1 |
A |
G |
6: 121,863,531 (GRCm39) |
T1410A |
probably damaging |
Het |
Nme8 |
C |
A |
13: 19,860,001 (GRCm39) |
|
probably benign |
Het |
Or1l4 |
A |
C |
2: 37,091,586 (GRCm39) |
N111T |
probably damaging |
Het |
Or4d11 |
A |
G |
19: 12,013,648 (GRCm39) |
F153L |
probably benign |
Het |
Or51v14 |
A |
T |
7: 103,261,198 (GRCm39) |
S121T |
probably benign |
Het |
Or8b36 |
C |
T |
9: 37,937,485 (GRCm39) |
P128S |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,783,919 (GRCm39) |
E2005G |
probably damaging |
Het |
Phtf1 |
T |
G |
3: 103,904,869 (GRCm39) |
S506A |
probably benign |
Het |
Plpp5 |
G |
T |
8: 26,211,192 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
G |
T |
2: 72,035,993 (GRCm39) |
|
probably benign |
Het |
Syt15 |
G |
A |
14: 33,944,870 (GRCm39) |
G139D |
probably benign |
Het |
Trpm8 |
T |
C |
1: 88,275,830 (GRCm39) |
L476P |
probably damaging |
Het |
Virma |
G |
A |
4: 11,507,079 (GRCm39) |
|
probably benign |
Het |
Vmn1r170 |
T |
A |
7: 23,305,760 (GRCm39) |
I54N |
probably damaging |
Het |
Vmn2r98 |
G |
A |
17: 19,301,283 (GRCm39) |
A762T |
probably damaging |
Het |
|
Other mutations in Ankrd63 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0827:Ankrd63
|
UTSW |
2 |
118,533,034 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2045:Ankrd63
|
UTSW |
2 |
118,533,834 (GRCm39) |
unclassified |
probably benign |
|
R2230:Ankrd63
|
UTSW |
2 |
118,533,846 (GRCm39) |
unclassified |
probably benign |
|
R2231:Ankrd63
|
UTSW |
2 |
118,533,846 (GRCm39) |
unclassified |
probably benign |
|
R2232:Ankrd63
|
UTSW |
2 |
118,533,846 (GRCm39) |
unclassified |
probably benign |
|
R4033:Ankrd63
|
UTSW |
2 |
118,533,412 (GRCm39) |
unclassified |
probably benign |
|
R4175:Ankrd63
|
UTSW |
2 |
118,533,100 (GRCm39) |
missense |
probably benign |
0.01 |
R5226:Ankrd63
|
UTSW |
2 |
118,533,736 (GRCm39) |
unclassified |
probably benign |
|
R7404:Ankrd63
|
UTSW |
2 |
118,533,793 (GRCm39) |
missense |
unknown |
|
R8318:Ankrd63
|
UTSW |
2 |
118,533,721 (GRCm39) |
missense |
unknown |
|
R8543:Ankrd63
|
UTSW |
2 |
118,533,604 (GRCm39) |
unclassified |
probably benign |
|
R8808:Ankrd63
|
UTSW |
2 |
118,533,549 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-12-18 |