Incidental Mutation 'IGL01719:Ankk1'
| ID |
105037 |
| 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: 0.053)
|
| Stock # |
IGL01719
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
49326494-49338321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49328081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 366
(V366A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034792]
|
| AlphaFold |
Q8BZ25 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034792
AA Change: V366A
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: V366A
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
| Antxr2 |
C |
T |
5: 98,096,132 (GRCm39) |
R384Q |
possibly damaging |
Het |
| Cdh13 |
G |
A |
8: 119,401,927 (GRCm39) |
V110M |
probably benign |
Het |
| Ctnna2 |
T |
A |
6: 77,613,958 (GRCm39) |
K198* |
probably null |
Het |
| Dpf3 |
C |
A |
12: 83,341,207 (GRCm39) |
S223I |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,888,555 (GRCm39) |
R52G |
probably damaging |
Het |
| Gm4787 |
G |
A |
12: 81,423,948 (GRCm39) |
R737C |
possibly damaging |
Het |
| Grin2b |
T |
A |
6: 135,710,379 (GRCm39) |
I1056F |
probably damaging |
Het |
| H2al2a |
T |
A |
2: 18,001,446 (GRCm39) |
H80L |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,267,434 (GRCm39) |
H601R |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,006,267 (GRCm39) |
L955P |
probably damaging |
Het |
| Jund |
C |
T |
8: 71,151,885 (GRCm39) |
A60V |
possibly damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,693,861 (GRCm39) |
L362P |
probably damaging |
Het |
| Lpar5 |
T |
G |
6: 125,058,969 (GRCm39) |
V230G |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,234,903 (GRCm39) |
|
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,018 (GRCm39) |
F14S |
possibly damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Plekha5 |
A |
C |
6: 140,515,855 (GRCm39) |
E702D |
probably damaging |
Het |
| Ppt1 |
A |
G |
4: 122,737,860 (GRCm39) |
Y66C |
probably damaging |
Het |
| S1pr5 |
C |
A |
9: 21,155,250 (GRCm39) |
R392L |
probably benign |
Het |
| Slc37a2 |
T |
C |
9: 37,145,474 (GRCm39) |
T410A |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,916,020 (GRCm39) |
|
probably benign |
Het |
| Taar7d |
T |
A |
10: 23,903,865 (GRCm39) |
M249K |
probably benign |
Het |
| Vwa5b2 |
T |
C |
16: 20,416,183 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
A |
5: 137,393,916 (GRCm39) |
T4512S |
unknown |
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 |
|
IGL01316:Ankk1
|
APN |
9 |
49,331,784 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation