Incidental Mutation 'IGL03083:Ankk1'
ID |
417962 |
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 # |
IGL03083
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
49326494-49338321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49333166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 106
(L106P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034792]
|
AlphaFold |
Q8BZ25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034792
AA Change: L106P
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000034792 Gene: ENSMUSG00000032257 AA Change: L106P
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,932,261 (GRCm39) |
|
probably null |
Het |
Acadsb |
A |
C |
7: 131,042,922 (GRCm39) |
|
probably benign |
Het |
Ankrd24 |
G |
A |
10: 81,474,483 (GRCm39) |
A72T |
probably benign |
Het |
Ankrd35 |
A |
T |
3: 96,592,117 (GRCm39) |
Q801L |
probably damaging |
Het |
Avil |
A |
G |
10: 126,852,193 (GRCm39) |
I659M |
probably benign |
Het |
Ccnc |
A |
G |
4: 21,742,683 (GRCm39) |
D170G |
possibly damaging |
Het |
Cfap57 |
T |
C |
4: 118,441,936 (GRCm39) |
K711E |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,174,466 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,914,548 (GRCm39) |
|
probably null |
Het |
Efhb |
A |
T |
17: 53,706,087 (GRCm39) |
W817R |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Fer1l4 |
A |
G |
2: 155,881,286 (GRCm39) |
|
probably benign |
Het |
Fgf8 |
T |
C |
19: 45,725,667 (GRCm39) |
N137S |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,521,576 (GRCm39) |
D533G |
probably benign |
Het |
Fshb |
A |
G |
2: 106,887,812 (GRCm39) |
V69A |
probably benign |
Het |
Galnt7 |
A |
T |
8: 57,979,223 (GRCm39) |
H633Q |
probably damaging |
Het |
Gm5458 |
A |
G |
14: 19,652,451 (GRCm39) |
|
probably null |
Het |
Hjv |
T |
A |
3: 96,435,922 (GRCm39) |
D393E |
probably benign |
Het |
Hpca |
A |
C |
4: 129,012,319 (GRCm39) |
F72L |
probably damaging |
Het |
Inpp5d |
A |
T |
1: 87,638,863 (GRCm39) |
D552V |
probably damaging |
Het |
Lepr |
C |
T |
4: 101,671,876 (GRCm39) |
Q967* |
probably null |
Het |
Lgr5 |
A |
G |
10: 115,288,937 (GRCm39) |
V497A |
probably benign |
Het |
Matr3 |
A |
G |
18: 35,705,471 (GRCm39) |
K132R |
probably damaging |
Het |
Mib1 |
T |
G |
18: 10,752,029 (GRCm39) |
|
probably null |
Het |
Mios |
T |
A |
6: 8,215,156 (GRCm39) |
N117K |
probably damaging |
Het |
Nab1 |
T |
C |
1: 52,529,429 (GRCm39) |
D156G |
probably benign |
Het |
Nfxl1 |
C |
T |
5: 72,698,005 (GRCm39) |
|
probably benign |
Het |
Nutm2 |
G |
A |
13: 50,621,480 (GRCm39) |
G15E |
probably damaging |
Het |
Oca2 |
A |
G |
7: 55,945,232 (GRCm39) |
H280R |
probably benign |
Het |
Or10al2 |
C |
A |
17: 37,983,551 (GRCm39) |
C212* |
probably null |
Het |
Or4d1 |
T |
C |
11: 87,804,914 (GRCm39) |
I273V |
probably benign |
Het |
P2ry1 |
A |
G |
3: 60,911,736 (GRCm39) |
T292A |
probably benign |
Het |
Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
Pidd1 |
A |
G |
7: 141,020,369 (GRCm39) |
|
probably null |
Het |
Pitpnm2 |
T |
C |
5: 124,271,445 (GRCm39) |
E376G |
possibly damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,635,872 (GRCm39) |
|
probably null |
Het |
Sbno2 |
A |
T |
10: 79,893,368 (GRCm39) |
M1311K |
probably damaging |
Het |
Senp7 |
A |
G |
16: 55,992,228 (GRCm39) |
N701S |
probably benign |
Het |
Sirpa |
T |
A |
2: 129,471,848 (GRCm39) |
I211N |
probably damaging |
Het |
Slc9a4 |
A |
G |
1: 40,668,562 (GRCm39) |
E735G |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,302,820 (GRCm39) |
M790I |
probably damaging |
Het |
Sult1e1 |
T |
A |
5: 87,737,983 (GRCm39) |
M33L |
probably benign |
Het |
Tapbpl |
G |
A |
6: 125,205,191 (GRCm39) |
|
probably null |
Het |
Top1 |
A |
G |
2: 160,545,498 (GRCm39) |
T289A |
probably damaging |
Het |
Trim58 |
T |
A |
11: 58,542,216 (GRCm39) |
M392K |
probably benign |
Het |
Uaca |
A |
G |
9: 60,770,945 (GRCm39) |
I371V |
probably benign |
Het |
Vmn1r54 |
T |
C |
6: 90,246,854 (GRCm39) |
I256T |
possibly damaging |
Het |
Wdr19 |
T |
C |
5: 65,388,319 (GRCm39) |
I668T |
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 |
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 |
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 |
2016-08-02 |