Incidental Mutation 'R0319:Ankk1'
| ID |
25563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankk1
|
| Ensembl Gene |
ENSMUSG00000032257 |
| Gene Name |
ankyrin repeat and kinase domain containing 1 |
| Synonyms |
9930020N01Rik |
| MMRRC Submission |
038529-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R0319 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
49326494-49338321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 49327371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 603
(T603P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034792]
|
| AlphaFold |
Q8BZ25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034792
AA Change: T603P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: T603P
| 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
|
| Meta Mutation Damage Score |
0.7022 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
C |
7: 127,836,362 (GRCm39) |
V77G |
probably benign |
Het |
| Abcb1b |
A |
G |
5: 8,877,428 (GRCm39) |
R663G |
probably benign |
Het |
| Acly |
A |
G |
11: 100,395,808 (GRCm39) |
V404A |
probably damaging |
Het |
| Actg2 |
T |
A |
6: 83,497,725 (GRCm39) |
I103F |
probably damaging |
Het |
| Anapc5 |
A |
G |
5: 122,956,919 (GRCm39) |
V120A |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,215,898 (GRCm39) |
S33P |
possibly damaging |
Het |
| Arhgef19 |
A |
T |
4: 140,983,710 (GRCm39) |
T748S |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,011,616 (GRCm39) |
|
probably benign |
Het |
| Atxn10 |
T |
C |
15: 85,249,483 (GRCm39) |
L105P |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 135,998,455 (GRCm39) |
V161A |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,735,426 (GRCm39) |
E741G |
possibly damaging |
Het |
| Cpne9 |
G |
A |
6: 113,271,654 (GRCm39) |
G338E |
probably damaging |
Het |
| Cyp3a13 |
G |
A |
5: 137,897,124 (GRCm39) |
P397S |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Draxin |
A |
G |
4: 148,200,429 (GRCm39) |
L7P |
probably benign |
Het |
| Exosc7 |
T |
A |
9: 122,960,025 (GRCm39) |
|
probably benign |
Het |
| Far2 |
A |
G |
6: 148,058,968 (GRCm39) |
E218G |
probably damaging |
Het |
| Ggps1 |
A |
C |
13: 14,228,462 (GRCm39) |
N240K |
possibly damaging |
Het |
| Kcnip1 |
T |
C |
11: 33,601,529 (GRCm39) |
|
probably benign |
Het |
| Kcnv2 |
A |
T |
19: 27,301,424 (GRCm39) |
Y425F |
probably benign |
Het |
| Kdelr2 |
T |
A |
5: 143,398,272 (GRCm39) |
F40I |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,207,195 (GRCm39) |
P173L |
probably benign |
Het |
| Kif20b |
G |
A |
19: 34,925,132 (GRCm39) |
|
probably benign |
Het |
| Klhl9 |
A |
T |
4: 88,638,691 (GRCm39) |
Y517N |
possibly damaging |
Het |
| Lgals3bp |
A |
G |
11: 118,284,347 (GRCm39) |
S411P |
probably damaging |
Het |
| Lmo3 |
G |
A |
6: 138,354,309 (GRCm39) |
T85M |
probably damaging |
Het |
| Lvrn |
C |
A |
18: 46,997,820 (GRCm39) |
T256N |
probably damaging |
Het |
| Malt1 |
T |
C |
18: 65,595,986 (GRCm39) |
|
probably null |
Het |
| Mgst1 |
A |
G |
6: 138,133,155 (GRCm39) |
I157V |
possibly damaging |
Het |
| Mob3a |
A |
T |
10: 80,525,819 (GRCm39) |
V164E |
possibly damaging |
Het |
| Mprip |
T |
A |
11: 59,587,864 (GRCm39) |
|
probably benign |
Het |
| Mst1 |
A |
G |
9: 107,959,712 (GRCm39) |
N276S |
probably benign |
Het |
| Or5an1b |
A |
T |
19: 12,299,680 (GRCm39) |
C170* |
probably null |
Het |
| P3h2 |
T |
A |
16: 25,789,681 (GRCm39) |
I529F |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,490 (GRCm39) |
S865T |
probably benign |
Het |
| Rcbtb2 |
G |
A |
14: 73,415,909 (GRCm39) |
R474Q |
probably benign |
Het |
| Rpl27 |
G |
A |
11: 101,334,321 (GRCm39) |
|
probably benign |
Het |
| Rtp1 |
G |
A |
16: 23,250,210 (GRCm39) |
E192K |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,837,592 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc49a4 |
T |
C |
16: 35,570,884 (GRCm39) |
D140G |
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,714,347 (GRCm39) |
N114S |
possibly damaging |
Het |
| Syne2 |
C |
T |
12: 76,110,936 (GRCm39) |
R5756W |
probably damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,882,927 (GRCm39) |
E307G |
probably damaging |
Het |
| Tpd52 |
T |
C |
3: 9,018,749 (GRCm39) |
T44A |
probably benign |
Het |
| Trim67 |
A |
T |
8: 125,549,966 (GRCm39) |
Y532F |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,842,018 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,680,571 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,909,709 (GRCm39) |
I539M |
probably benign |
Het |
| Vmn1r19 |
T |
A |
6: 57,381,600 (GRCm39) |
M51K |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,941 (GRCm39) |
M787K |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,213,096 (GRCm39) |
|
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,933,895 (GRCm39) |
V8E |
probably damaging |
Het |
| Zfp595 |
G |
A |
13: 67,464,577 (GRCm39) |
A562V |
possibly damaging |
Het |
| Zfp759 |
A |
G |
13: 67,288,356 (GRCm39) |
T636A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTCCTTTATGCACTGCCAGATG -3'
(R):5'- GGAAAGTGAGAGCCATTCAGCACC -3'
Sequencing Primer
(F):5'- TGACTGCTCAGCAGCATTG -3'
(R):5'- CTGCTAAAATGTGGGGCACTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation