Incidental Mutation 'IGL02549:Ankk1'
| ID |
297962 |
| 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 # |
IGL02549
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
49326494-49338321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49329993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 321
(S321P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034792]
|
| AlphaFold |
Q8BZ25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034792
AA Change: S321P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: S321P
| 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 |
unknown
Transcript: ENSMUST00000216227
AA Change: S53P
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
| Adnp2 |
G |
A |
18: 80,172,333 (GRCm39) |
A692V |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,618,032 (GRCm39) |
Y1919C |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,469,481 (GRCm39) |
T1111A |
probably benign |
Het |
| Avpr1a |
A |
T |
10: 122,288,069 (GRCm39) |
H359L |
possibly damaging |
Het |
| C1rl |
A |
T |
6: 124,470,796 (GRCm39) |
I35F |
possibly damaging |
Het |
| Casp8 |
G |
A |
1: 58,872,925 (GRCm39) |
C287Y |
probably benign |
Het |
| Ccdc88c |
A |
T |
12: 100,895,191 (GRCm39) |
S1437T |
probably benign |
Het |
| Cd200r1 |
C |
T |
16: 44,610,341 (GRCm39) |
P150S |
probably damaging |
Het |
| Col2a1 |
G |
A |
15: 97,875,680 (GRCm39) |
R1202C |
unknown |
Het |
| Copb1 |
A |
T |
7: 113,846,032 (GRCm39) |
D179E |
probably benign |
Het |
| Cyp2c29 |
C |
T |
19: 39,298,229 (GRCm39) |
T258I |
possibly damaging |
Het |
| Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
| Gemin5 |
T |
C |
11: 58,025,629 (GRCm39) |
Y991C |
probably damaging |
Het |
| Gm4978 |
T |
C |
9: 69,357,641 (GRCm39) |
|
probably benign |
Het |
| Gm7732 |
A |
T |
17: 21,349,649 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2f |
T |
C |
X: 140,943,200 (GRCm39) |
I478V |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,307,183 (GRCm39) |
H1001R |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,236,662 (GRCm39) |
V1173A |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,841,127 (GRCm39) |
T58A |
probably benign |
Het |
| Kcnk13 |
A |
T |
12: 100,028,010 (GRCm39) |
K362* |
probably null |
Het |
| Lama1 |
T |
G |
17: 68,097,830 (GRCm39) |
L1737V |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,936,200 (GRCm39) |
N625S |
probably benign |
Het |
| Loxl1 |
A |
T |
9: 58,200,921 (GRCm39) |
C514S |
probably damaging |
Het |
| Muc13 |
A |
C |
16: 33,628,339 (GRCm39) |
E363A |
probably damaging |
Het |
| Noxo1 |
G |
T |
17: 24,919,145 (GRCm39) |
G289V |
probably damaging |
Het |
| Nudt7 |
G |
T |
8: 114,878,688 (GRCm39) |
D239Y |
probably damaging |
Het |
| Polr3e |
G |
T |
7: 120,538,982 (GRCm39) |
V407F |
probably damaging |
Het |
| Pou5f2 |
T |
A |
13: 78,173,709 (GRCm39) |
L217Q |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,320,094 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
C |
17: 26,213,294 (GRCm39) |
N793K |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 8,997,925 (GRCm39) |
R6G |
possibly damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,042,141 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
G |
6: 48,428,707 (GRCm39) |
E374G |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,711,210 (GRCm39) |
Y991H |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,933,309 (GRCm39) |
Y652H |
probably damaging |
Het |
| Trpc4 |
G |
A |
3: 54,129,770 (GRCm39) |
V179I |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,343,446 (GRCm39) |
T1896A |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,527,141 (GRCm39) |
Y1013H |
probably 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 |
|
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 |
2015-04-16 |
Incidental Mutation