Incidental Mutation 'IGL02690:Ankk1'
| ID |
303717 |
| 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 # |
IGL02690
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
49326494-49338321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49333200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 95
(I95F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034792]
|
| AlphaFold |
Q8BZ25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034792
AA Change: I95F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: I95F
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
C |
17: 57,787,921 (GRCm39) |
V896A |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,989,948 (GRCm39) |
S3744* |
probably null |
Het |
| Aldh7a1 |
A |
G |
18: 56,661,427 (GRCm39) |
|
probably benign |
Het |
| Borcs8 |
C |
A |
8: 70,617,738 (GRCm39) |
A32D |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,611,198 (GRCm39) |
Y111C |
probably damaging |
Het |
| Cdh1 |
T |
A |
8: 107,384,516 (GRCm39) |
I328N |
probably damaging |
Het |
| Cebpz |
C |
T |
17: 79,229,986 (GRCm39) |
D856N |
probably damaging |
Het |
| Clip2 |
T |
A |
5: 134,539,013 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
C |
A |
4: 98,857,872 (GRCm39) |
V1451F |
possibly damaging |
Het |
| Edem3 |
T |
G |
1: 151,680,550 (GRCm39) |
C558W |
probably damaging |
Het |
| Eif3f |
T |
C |
7: 108,533,925 (GRCm39) |
V96A |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,291,576 (GRCm39) |
S738P |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,678,861 (GRCm39) |
S912R |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,484,998 (GRCm39) |
|
probably benign |
Het |
| Larp7-ps |
T |
A |
4: 92,079,248 (GRCm39) |
D191V |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 90,981,383 (GRCm39) |
T2A |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,815,710 (GRCm39) |
E1198G |
possibly damaging |
Het |
| Maml1 |
A |
G |
11: 50,149,457 (GRCm39) |
L761P |
probably damaging |
Het |
| Mon2 |
T |
A |
10: 122,845,532 (GRCm39) |
E1392V |
possibly damaging |
Het |
| Nol12 |
A |
G |
15: 78,821,374 (GRCm39) |
E78G |
probably damaging |
Het |
| Or13c7b |
G |
A |
4: 43,821,190 (GRCm39) |
T57M |
possibly damaging |
Het |
| Or5k17 |
G |
A |
16: 58,746,214 (GRCm39) |
T240I |
possibly damaging |
Het |
| Rag2 |
A |
T |
2: 101,459,839 (GRCm39) |
I50L |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,273 (GRCm39) |
N267D |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rsc1a1 |
A |
T |
4: 141,412,612 (GRCm39) |
V100D |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,250,132 (GRCm39) |
Y166H |
probably damaging |
Het |
| Scly |
A |
T |
1: 91,233,047 (GRCm39) |
T109S |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,868,135 (GRCm39) |
S327C |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,434,633 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,665,040 (GRCm39) |
Y463C |
probably damaging |
Het |
| Speer1j |
C |
T |
5: 11,555,228 (GRCm39) |
Q66* |
probably null |
Het |
| Sptan1 |
A |
G |
2: 29,888,195 (GRCm39) |
M936V |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tbx20 |
T |
A |
9: 24,685,033 (GRCm39) |
N37Y |
probably benign |
Het |
| Tent4a |
T |
A |
13: 69,658,744 (GRCm39) |
M364L |
probably benign |
Het |
| Tex14 |
C |
T |
11: 87,377,100 (GRCm39) |
T148I |
probably benign |
Het |
| Ubxn7 |
A |
G |
16: 32,200,423 (GRCm39) |
E371G |
probably benign |
Het |
| Ugt2b35 |
T |
C |
5: 87,149,096 (GRCm39) |
F116L |
probably benign |
Het |
| Vmn2r111 |
C |
T |
17: 22,778,023 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,003,091 (GRCm39) |
L167P |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,917,288 (GRCm39) |
W3711R |
probably damaging |
Het |
| Wdr5 |
A |
T |
2: 27,424,840 (GRCm39) |
T326S |
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 |
|
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