Incidental Mutation 'R5873:Ankk1'
ID |
455317 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankk1
|
Ensembl Gene |
ENSMUSG00000032257 |
Gene Name |
ankyrin repeat and kinase domain containing 1 |
Synonyms |
9930020N01Rik |
MMRRC Submission |
044080-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R5873 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
49326494-49338321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49327196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 661
(N661S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034792]
|
AlphaFold |
Q8BZ25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034792
AA Change: N661S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000034792 Gene: ENSMUSG00000032257 AA Change: N661S
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,630,167 (GRCm39) |
|
probably null |
Het |
4930505A04Rik |
T |
A |
11: 30,376,220 (GRCm39) |
K216* |
probably null |
Het |
5330417H12Rik |
T |
C |
7: 107,223,975 (GRCm39) |
|
probably benign |
Het |
Abcc4 |
G |
T |
14: 118,763,702 (GRCm39) |
D1044E |
probably benign |
Het |
Adgre4 |
A |
G |
17: 56,159,282 (GRCm39) |
T656A |
probably benign |
Het |
Asah2 |
A |
G |
19: 31,981,082 (GRCm39) |
|
probably null |
Het |
Asxl3 |
A |
G |
18: 22,649,142 (GRCm39) |
D377G |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,381 (GRCm39) |
S279P |
probably benign |
Het |
C7 |
A |
G |
15: 5,034,717 (GRCm39) |
V610A |
probably damaging |
Het |
Cacna2d3 |
C |
A |
14: 29,442,891 (GRCm39) |
A48S |
probably benign |
Het |
Card11 |
T |
A |
5: 140,894,393 (GRCm39) |
I79F |
probably damaging |
Het |
Casc3 |
A |
G |
11: 98,712,270 (GRCm39) |
Y103C |
unknown |
Het |
Cass4 |
G |
T |
2: 172,268,688 (GRCm39) |
V259L |
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,309,182 (GRCm39) |
|
probably benign |
Het |
Cox10 |
A |
G |
11: 63,962,512 (GRCm39) |
S110P |
probably benign |
Het |
Cpt1b |
T |
C |
15: 89,304,931 (GRCm39) |
Y439C |
probably damaging |
Het |
Crybb2 |
C |
T |
5: 113,213,759 (GRCm39) |
|
probably null |
Het |
Cyp2b23 |
C |
T |
7: 26,374,431 (GRCm39) |
R271H |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,947,723 (GRCm39) |
I3039V |
probably benign |
Het |
Dnpep |
T |
C |
1: 75,291,787 (GRCm39) |
D242G |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,551,855 (GRCm39) |
N660I |
probably damaging |
Het |
Esco2 |
T |
C |
14: 66,061,640 (GRCm39) |
D471G |
probably benign |
Het |
Evpl |
A |
T |
11: 116,125,258 (GRCm39) |
L97H |
probably damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,389,850 (GRCm39) |
I142F |
probably damaging |
Het |
Fry |
C |
A |
5: 150,302,350 (GRCm39) |
P519Q |
probably damaging |
Het |
Gal3st2 |
T |
A |
1: 93,801,472 (GRCm39) |
F92I |
probably benign |
Het |
Galm |
A |
G |
17: 80,445,532 (GRCm39) |
E94G |
probably benign |
Het |
Gfy |
T |
G |
7: 44,827,004 (GRCm39) |
H364P |
probably damaging |
Het |
Helz2 |
A |
G |
2: 180,875,821 (GRCm39) |
S1558P |
possibly damaging |
Het |
Hmmr |
T |
A |
11: 40,598,527 (GRCm39) |
Q600L |
probably damaging |
Het |
Hnrnph3 |
A |
G |
10: 62,855,170 (GRCm39) |
|
probably null |
Het |
Igkv4-90 |
T |
A |
6: 68,784,453 (GRCm39) |
N21I |
probably benign |
Het |
Kpna1 |
A |
G |
16: 35,834,598 (GRCm39) |
|
probably benign |
Het |
Krt28 |
A |
C |
11: 99,257,716 (GRCm39) |
L375R |
probably damaging |
Het |
Lrrn1 |
T |
C |
6: 107,545,936 (GRCm39) |
V578A |
probably damaging |
Het |
Lta4h |
T |
C |
10: 93,305,052 (GRCm39) |
|
probably null |
Het |
Matk |
T |
A |
10: 81,095,963 (GRCm39) |
V166E |
probably benign |
Het |
Muc4 |
C |
A |
16: 32,570,113 (GRCm39) |
T391K |
possibly damaging |
Het |
Mybl1 |
T |
A |
1: 9,755,890 (GRCm39) |
T220S |
possibly damaging |
Het |
Nrp1 |
T |
C |
8: 129,194,858 (GRCm39) |
V438A |
probably damaging |
Het |
Or2y6 |
A |
T |
11: 52,104,180 (GRCm39) |
L212Q |
probably damaging |
Het |
Or6p1 |
T |
A |
1: 174,258,348 (GRCm39) |
M118K |
possibly damaging |
Het |
Pdia4 |
A |
T |
6: 47,785,110 (GRCm39) |
W86R |
probably damaging |
Het |
Pdzd7 |
T |
A |
19: 45,016,388 (GRCm39) |
D911V |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,788,804 (GRCm39) |
Q854R |
probably benign |
Het |
Ppl |
A |
G |
16: 4,923,913 (GRCm39) |
|
probably null |
Het |
Ppp1r26 |
A |
G |
2: 28,341,617 (GRCm39) |
T416A |
probably benign |
Het |
Prdm15 |
T |
C |
16: 97,609,889 (GRCm39) |
D585G |
probably damaging |
Het |
Rbak |
A |
G |
5: 143,159,466 (GRCm39) |
V529A |
probably benign |
Het |
Rc3h1 |
C |
T |
1: 160,787,071 (GRCm39) |
T822I |
probably damaging |
Het |
Slc25a18 |
A |
T |
6: 120,763,242 (GRCm39) |
|
probably null |
Het |
Taf2 |
T |
C |
15: 54,901,818 (GRCm39) |
N792S |
probably benign |
Het |
Tat |
T |
C |
8: 110,718,581 (GRCm39) |
|
probably null |
Het |
Tbx21 |
A |
T |
11: 97,005,474 (GRCm39) |
|
probably null |
Het |
Txndc11 |
A |
G |
16: 10,893,069 (GRCm39) |
L887P |
probably damaging |
Het |
Usp10 |
A |
G |
8: 120,673,831 (GRCm39) |
T399A |
possibly damaging |
Het |
Vmn2r26 |
A |
T |
6: 124,038,633 (GRCm39) |
H736L |
probably benign |
Het |
Vstm2a |
T |
A |
11: 16,208,044 (GRCm39) |
F13I |
probably damaging |
Het |
Zkscan5 |
A |
G |
5: 145,157,204 (GRCm39) |
R496G |
possibly damaging |
Het |
Zranb2 |
C |
T |
3: 157,242,020 (GRCm39) |
R36* |
probably null |
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 |
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 |
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'- TTGACATCCACCTGTGCAG -3'
(R):5'- TACGCACACAACAGGGATGG -3'
Sequencing Primer
(F):5'- ACCTGTGCAGCAGCTTTAACTAG -3'
(R):5'- GATGGACACCCCTGCACCTAG -3'
|
Posted On |
2017-02-10 |