Incidental Mutation 'R3121:Ankk1'
ID |
263231 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankk1
|
Ensembl Gene |
ENSMUSG00000032257 |
Gene Name |
ankyrin repeat and kinase domain containing 1 |
Synonyms |
9930020N01Rik |
MMRRC Submission |
040594-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R3121 (G1)
|
Quality Score |
171 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
49326494-49338321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 49338267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 9
(L9F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034792]
|
AlphaFold |
Q8BZ25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034792
AA Change: L9F
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034792 Gene: ENSMUSG00000032257 AA Change: L9F
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (52/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,966,091 (GRCm39) |
M423K |
probably benign |
Het |
Adamtsl1 |
T |
A |
4: 86,255,246 (GRCm39) |
W780R |
probably damaging |
Het |
Ago3 |
A |
G |
4: 126,311,165 (GRCm39) |
I16T |
probably benign |
Het |
Amph |
T |
A |
13: 19,297,316 (GRCm39) |
L354* |
probably null |
Het |
Brdt |
A |
G |
5: 107,525,011 (GRCm39) |
T851A |
probably damaging |
Het |
Bzw2 |
A |
C |
12: 36,170,788 (GRCm39) |
|
probably null |
Het |
Capn7 |
A |
T |
14: 31,081,167 (GRCm39) |
I395F |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,499,591 (GRCm39) |
R864G |
possibly damaging |
Het |
Ccdc50 |
G |
T |
16: 27,228,139 (GRCm39) |
R102L |
possibly damaging |
Het |
Cep83 |
T |
C |
10: 94,622,700 (GRCm39) |
V592A |
probably damaging |
Het |
Cgn |
G |
A |
3: 94,685,792 (GRCm39) |
|
probably benign |
Het |
Cidec |
C |
A |
6: 113,405,086 (GRCm39) |
V195L |
probably benign |
Het |
Cntln |
A |
G |
4: 84,923,289 (GRCm39) |
|
probably benign |
Het |
Cntrob |
A |
T |
11: 69,213,526 (GRCm39) |
L88* |
probably null |
Het |
Dnah17 |
C |
T |
11: 117,931,912 (GRCm39) |
V3687M |
probably damaging |
Het |
Dst |
T |
C |
1: 34,328,729 (GRCm39) |
I4599T |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,285,175 (GRCm39) |
Y320* |
probably null |
Het |
Fam98b |
A |
G |
2: 117,098,408 (GRCm39) |
T293A |
probably damaging |
Het |
Farp1 |
G |
A |
14: 121,460,138 (GRCm39) |
|
probably benign |
Het |
Fat2 |
G |
T |
11: 55,202,622 (GRCm39) |
P151T |
probably damaging |
Het |
Fbxl17 |
A |
T |
17: 63,778,419 (GRCm39) |
M497K |
probably damaging |
Het |
Foxn4 |
T |
C |
5: 114,396,776 (GRCm39) |
T236A |
probably damaging |
Het |
Gm525 |
C |
T |
11: 88,979,374 (GRCm39) |
|
probably benign |
Het |
Golga4 |
C |
A |
9: 118,386,448 (GRCm39) |
T1190K |
possibly damaging |
Het |
H2-T23 |
T |
A |
17: 36,341,855 (GRCm39) |
M248L |
probably benign |
Het |
Homez |
T |
C |
14: 55,094,778 (GRCm39) |
E310G |
probably benign |
Het |
Hydin |
A |
G |
8: 111,233,138 (GRCm39) |
I1746V |
probably benign |
Het |
Igkv1-35 |
T |
A |
6: 69,988,641 (GRCm39) |
H6L |
probably benign |
Het |
Kcnt2 |
T |
C |
1: 140,356,622 (GRCm39) |
S354P |
probably damaging |
Het |
Khdc4 |
A |
G |
3: 88,596,599 (GRCm39) |
T127A |
probably damaging |
Het |
Klra4 |
G |
T |
6: 130,040,141 (GRCm39) |
Q44K |
probably benign |
Het |
L3mbtl3 |
A |
G |
10: 26,220,119 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
C |
T |
12: 31,337,528 (GRCm39) |
R372C |
probably damaging |
Het |
Magea14 |
A |
T |
X: 51,057,968 (GRCm39) |
Y239* |
probably null |
Het |
Map3k9 |
A |
G |
12: 81,790,698 (GRCm39) |
I285T |
probably damaging |
Het |
Or4a47 |
T |
A |
2: 89,665,858 (GRCm39) |
I144L |
probably benign |
Het |
Or6c6 |
A |
G |
10: 129,186,552 (GRCm39) |
N40S |
possibly damaging |
Het |
Pcdhb16 |
A |
T |
18: 37,611,271 (GRCm39) |
Q77L |
possibly damaging |
Het |
Pramel20 |
T |
A |
4: 143,297,583 (GRCm39) |
M1K |
probably null |
Het |
Proser3 |
A |
G |
7: 30,239,796 (GRCm39) |
V436A |
probably benign |
Het |
Relch |
A |
G |
1: 105,653,524 (GRCm39) |
N834S |
probably benign |
Het |
Resf1 |
T |
A |
6: 149,230,741 (GRCm39) |
C1262* |
probably null |
Het |
Sec24b |
C |
T |
3: 129,795,953 (GRCm39) |
|
probably null |
Het |
Slc2a2 |
A |
G |
3: 28,775,898 (GRCm39) |
Q336R |
probably benign |
Het |
Sowahb |
T |
C |
5: 93,191,261 (GRCm39) |
D486G |
possibly damaging |
Het |
Spidr |
T |
C |
16: 15,958,724 (GRCm39) |
K13E |
probably damaging |
Het |
Tiam2 |
T |
A |
17: 3,489,977 (GRCm39) |
M786K |
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,964,808 (GRCm39) |
V122E |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,451,172 (GRCm39) |
I729M |
possibly damaging |
Het |
Zbbx |
T |
C |
3: 74,989,153 (GRCm39) |
T317A |
possibly damaging |
Het |
Zfp976 |
A |
G |
7: 42,262,938 (GRCm39) |
C300R |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCACTTGATGGCGTACTGG -3'
(R):5'- TCTGACTTCCAGCTGCAAGC -3'
Sequencing Primer
(F):5'- ATGGCGTACTGGGTCCTC -3'
(R):5'- TGCAAGCACAGCTCTGG -3'
|
Posted On |
2015-02-05 |