Incidental Mutation 'IGL03289:Ankk1'
ID |
415830 |
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 # |
IGL03289
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
49326494-49338321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49326995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 728
(V728A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034792]
|
AlphaFold |
Q8BZ25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034792
AA Change: V728A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000034792 Gene: ENSMUSG00000032257 AA Change: V728A
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap10 |
A |
G |
11: 61,768,794 (GRCm39) |
|
probably benign |
Het |
Akap9 |
A |
G |
5: 4,127,261 (GRCm39) |
Y3703C |
probably damaging |
Het |
B3galt2 |
T |
C |
1: 143,523,042 (GRCm39) |
Y393H |
probably damaging |
Het |
Clcn4 |
T |
A |
7: 7,287,257 (GRCm39) |
I664F |
probably damaging |
Het |
Clec2e |
A |
T |
6: 129,075,418 (GRCm39) |
I41N |
probably damaging |
Het |
Col2a1 |
A |
T |
15: 97,878,762 (GRCm39) |
N845K |
unknown |
Het |
Cubn |
T |
G |
2: 13,431,778 (GRCm39) |
I1272L |
probably benign |
Het |
Dnajc5 |
T |
C |
2: 181,189,260 (GRCm39) |
Y79H |
probably damaging |
Het |
Eml6 |
G |
T |
11: 29,745,328 (GRCm39) |
A1006E |
possibly damaging |
Het |
Igsf5 |
A |
T |
16: 96,326,632 (GRCm39) |
D271V |
possibly damaging |
Het |
Kalrn |
G |
A |
16: 34,205,667 (GRCm39) |
A70V |
possibly damaging |
Het |
Kcnn2 |
A |
T |
18: 45,810,111 (GRCm39) |
K309N |
probably damaging |
Het |
Lrch4 |
T |
C |
5: 137,631,839 (GRCm39) |
S22P |
probably damaging |
Het |
Mcpt2 |
A |
T |
14: 56,281,794 (GRCm39) |
I215F |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,313,634 (GRCm39) |
|
probably null |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Or1l4b |
C |
T |
2: 37,036,590 (GRCm39) |
A122V |
probably damaging |
Het |
Osbp2 |
A |
G |
11: 3,813,380 (GRCm39) |
V163A |
probably benign |
Het |
Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
Scart1 |
T |
C |
7: 139,808,973 (GRCm39) |
|
probably null |
Het |
Senp1 |
G |
T |
15: 97,982,926 (GRCm39) |
H20Q |
probably damaging |
Het |
Slc16a6 |
A |
G |
11: 109,354,325 (GRCm39) |
Y31H |
probably damaging |
Het |
Thbs2 |
T |
A |
17: 14,910,384 (GRCm39) |
N72Y |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,343,818 (GRCm39) |
S1366T |
possibly damaging |
Het |
Vmn1r216 |
T |
A |
13: 23,284,182 (GRCm39) |
D288E |
possibly damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,196,788 (GRCm39) |
|
probably benign |
Het |
Vnn3 |
A |
T |
10: 23,741,735 (GRCm39) |
S347C |
possibly damaging |
Het |
Yme1l1 |
T |
C |
2: 23,050,280 (GRCm39) |
V37A |
probably benign |
Het |
Zfp597 |
A |
T |
16: 3,683,786 (GRCm39) |
D323E |
possibly damaging |
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 |
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 |
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 |
2016-08-02 |