Incidental Mutation 'IGL01316:Ankk1'
| ID |
73867 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankk1
|
| Ensembl Gene |
ENSMUSG00000032257 |
| Gene Name |
ankyrin repeat and kinase domain containing 1 |
| Synonyms |
9930020N01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL01316
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
49326494-49338321 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 49331784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034792]
|
| AlphaFold |
Q8BZ25 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034792
|
| SMART Domains |
Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
35 |
298 |
4.1e-44 |
PFAM |
|
Pfam:Pkinase_Tyr
|
36 |
297 |
7.6e-47 |
PFAM |
|
ANK
|
369 |
398 |
1.36e-2 |
SMART |
|
ANK
|
402 |
431 |
4.13e-2 |
SMART |
|
ANK
|
435 |
464 |
3.51e-5 |
SMART |
|
ANK
|
468 |
497 |
5.62e-4 |
SMART |
|
ANK
|
501 |
530 |
5.71e-5 |
SMART |
|
ANK
|
534 |
563 |
1.05e-3 |
SMART |
|
ANK
|
567 |
596 |
1.12e-3 |
SMART |
|
ANK
|
600 |
629 |
6.12e-5 |
SMART |
|
ANK
|
633 |
662 |
1.59e-3 |
SMART |
|
ANK
|
666 |
695 |
3.65e-3 |
SMART |
|
ANK
|
699 |
728 |
8.39e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216227
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,935,404 (GRCm39) |
V326A |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,362 (GRCm39) |
D883G |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,046,702 (GRCm39) |
V1796A |
probably benign |
Het |
| Ccdc186 |
A |
C |
19: 56,801,845 (GRCm39) |
C91G |
probably benign |
Het |
| Clec5a |
T |
C |
6: 40,559,196 (GRCm39) |
T63A |
probably benign |
Het |
| Cyp3a11 |
T |
A |
5: 145,791,961 (GRCm39) |
K477N |
possibly damaging |
Het |
| Dram2 |
T |
A |
3: 106,480,296 (GRCm39) |
V116E |
possibly damaging |
Het |
| Dram2 |
T |
C |
3: 106,478,950 (GRCm39) |
Y181H |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,143,258 (GRCm39) |
F184L |
possibly damaging |
Het |
| Greb1 |
T |
A |
12: 16,748,587 (GRCm39) |
H1102L |
probably benign |
Het |
| Inpp5f |
G |
A |
7: 128,292,430 (GRCm39) |
|
probably benign |
Het |
| Kcng1 |
T |
C |
2: 168,110,960 (GRCm39) |
N68S |
probably damaging |
Het |
| Klhl41 |
A |
G |
2: 69,505,068 (GRCm39) |
D457G |
probably benign |
Het |
| Krt1c |
T |
C |
15: 101,719,646 (GRCm39) |
R675G |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,900,846 (GRCm39) |
V2200D |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,247,580 (GRCm39) |
|
probably benign |
Het |
| Nexn |
A |
T |
3: 151,952,870 (GRCm39) |
F283L |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,976,023 (GRCm39) |
D389G |
probably benign |
Het |
| Or2n1c |
A |
G |
17: 38,519,388 (GRCm39) |
N84S |
probably damaging |
Het |
| Or7g21 |
A |
G |
9: 19,032,718 (GRCm39) |
I156V |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,420,500 (GRCm39) |
|
probably benign |
Het |
| Pirt |
T |
C |
11: 66,816,772 (GRCm39) |
S28P |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,963,975 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,758,791 (GRCm39) |
T478A |
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,808,552 (GRCm39) |
S106P |
probably benign |
Het |
| Shroom1 |
C |
T |
11: 53,356,385 (GRCm39) |
A416V |
probably damaging |
Het |
| Ski |
C |
T |
4: 155,306,143 (GRCm39) |
A279T |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,800,468 (GRCm39) |
V28A |
probably damaging |
Het |
| Tmem126a |
G |
A |
7: 90,101,927 (GRCm39) |
P91S |
probably damaging |
Het |
| Ucma |
T |
C |
2: 4,986,042 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ankk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Ankk1
|
APN |
9 |
49,333,200 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL00495:Ankk1
|
APN |
9 |
49,327,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01359:Ankk1
|
APN |
9 |
49,327,328 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01464:Ankk1
|
APN |
9 |
49,327,272 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01719:Ankk1
|
APN |
9 |
49,328,081 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02057:Ankk1
|
APN |
9 |
49,328,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02549:Ankk1
|
APN |
9 |
49,329,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02690:Ankk1
|
APN |
9 |
49,333,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03083:Ankk1
|
APN |
9 |
49,333,166 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03168:Ankk1
|
APN |
9 |
49,327,068 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03289:Ankk1
|
APN |
9 |
49,326,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0319:Ankk1
|
UTSW |
9 |
49,327,371 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0539:Ankk1
|
UTSW |
9 |
49,329,330 (GRCm39) |
missense |
probably benign |
|
|
R0827:Ankk1
|
UTSW |
9 |
49,333,037 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1474:Ankk1
|
UTSW |
9 |
49,327,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Ankk1
|
UTSW |
9 |
49,331,725 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1851:Ankk1
|
UTSW |
9 |
49,327,150 (GRCm39) |
missense |
probably benign |
|
|
R2044:Ankk1
|
UTSW |
9 |
49,330,664 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2088:Ankk1
|
UTSW |
9 |
49,333,265 (GRCm39) |
unclassified |
probably benign |
|
|
R2353:Ankk1
|
UTSW |
9 |
49,329,990 (GRCm39) |
missense |
probably benign |
|
|
R2897:Ankk1
|
UTSW |
9 |
49,333,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2898:Ankk1
|
UTSW |
9 |
49,333,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3121:Ankk1
|
UTSW |
9 |
49,338,267 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3714:Ankk1
|
UTSW |
9 |
49,333,013 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4455:Ankk1
|
UTSW |
9 |
49,329,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4757:Ankk1
|
UTSW |
9 |
49,327,230 (GRCm39) |
missense |
probably benign |
|
|
R4893:Ankk1
|
UTSW |
9 |
49,326,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5090:Ankk1
|
UTSW |
9 |
49,333,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5521:Ankk1
|
UTSW |
9 |
49,331,748 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5812:Ankk1
|
UTSW |
9 |
49,338,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5853:Ankk1
|
UTSW |
9 |
49,329,995 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5873:Ankk1
|
UTSW |
9 |
49,327,196 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6119:Ankk1
|
UTSW |
9 |
49,338,183 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6328:Ankk1
|
UTSW |
9 |
49,327,371 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6606:Ankk1
|
UTSW |
9 |
49,327,646 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6689:Ankk1
|
UTSW |
9 |
49,331,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6745:Ankk1
|
UTSW |
9 |
49,327,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6856:Ankk1
|
UTSW |
9 |
49,331,320 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7424:Ankk1
|
UTSW |
9 |
49,330,050 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8145:Ankk1
|
UTSW |
9 |
49,327,097 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8683:Ankk1
|
UTSW |
9 |
49,329,292 (GRCm39) |
missense |
|
|
|
R9776:Ankk1
|
UTSW |
9 |
49,330,714 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1176:Ankk1
|
UTSW |
9 |
49,333,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ankk1
|
UTSW |
9 |
49,327,943 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ankk1
|
UTSW |
9 |
49,327,787 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Ankk1
|
UTSW |
9 |
49,327,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-10-07 |
Incidental Mutation