Incidental Mutation 'R2898:Ankk1'
ID |
261366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankk1
|
Ensembl Gene |
ENSMUSG00000032257 |
Gene Name |
ankyrin repeat and kinase domain containing 1 |
Synonyms |
9930020N01Rik |
MMRRC Submission |
040486-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R2898 (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 A
at 49333122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 121
(T121S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034792]
|
AlphaFold |
Q8BZ25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034792
AA Change: T121S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000034792 Gene: ENSMUSG00000032257 AA Change: T121S
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930480E11Rik |
C |
T |
X: 77,413,868 (GRCm39) |
Q198* |
probably null |
Het |
Acap3 |
C |
T |
4: 155,987,916 (GRCm39) |
R547C |
possibly damaging |
Het |
Acap3 |
G |
C |
4: 155,989,388 (GRCm39) |
|
probably null |
Het |
Adcy6 |
A |
G |
15: 98,491,369 (GRCm39) |
S1075P |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,211,152 (GRCm39) |
I406V |
probably damaging |
Het |
Bnipl |
T |
A |
3: 95,150,360 (GRCm39) |
H219L |
probably benign |
Het |
Brwd1 |
C |
A |
16: 95,867,300 (GRCm39) |
M178I |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,988,341 (GRCm39) |
|
probably null |
Het |
Chd5 |
T |
C |
4: 152,456,572 (GRCm39) |
F970L |
probably damaging |
Het |
Cit |
A |
G |
5: 116,012,037 (GRCm39) |
|
probably null |
Het |
Coq9 |
T |
C |
8: 95,579,752 (GRCm39) |
Y236H |
probably damaging |
Het |
Cxcr2 |
T |
C |
1: 74,198,130 (GRCm39) |
V208A |
probably benign |
Het |
Dnah10 |
G |
A |
5: 124,894,734 (GRCm39) |
R3433H |
probably damaging |
Het |
Dnmt3b |
G |
T |
2: 153,509,550 (GRCm39) |
V268L |
possibly damaging |
Het |
Fbxw21 |
T |
C |
9: 108,985,404 (GRCm39) |
T125A |
possibly damaging |
Het |
Fzd9 |
T |
G |
5: 135,278,700 (GRCm39) |
D395A |
probably damaging |
Het |
Gfm2 |
T |
C |
13: 97,309,469 (GRCm39) |
V642A |
possibly damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Hid1 |
A |
G |
11: 115,241,356 (GRCm39) |
S645P |
probably benign |
Het |
Hmgxb3 |
C |
T |
18: 61,288,368 (GRCm39) |
V500M |
probably benign |
Het |
Hnf1a |
C |
T |
5: 115,098,106 (GRCm39) |
W165* |
probably null |
Het |
Hsd3b1 |
A |
T |
3: 98,760,623 (GRCm39) |
C123S |
probably benign |
Het |
Inpp4a |
A |
T |
1: 37,405,675 (GRCm39) |
H148L |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,074,839 (GRCm39) |
R2338Q |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,224,667 (GRCm39) |
I1441N |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lmo7 |
A |
G |
14: 102,114,350 (GRCm39) |
T31A |
possibly damaging |
Het |
Lrrc15 |
C |
T |
16: 30,092,604 (GRCm39) |
R245H |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 103,063,111 (GRCm39) |
N65S |
probably damaging |
Het |
Mpp4 |
T |
C |
1: 59,183,853 (GRCm39) |
I296V |
probably benign |
Het |
Myo6 |
T |
A |
9: 80,176,893 (GRCm39) |
|
probably null |
Het |
Myo7a |
G |
T |
7: 97,703,631 (GRCm39) |
Y2003* |
probably null |
Het |
Myo7a |
T |
C |
7: 97,746,413 (GRCm39) |
N246D |
probably damaging |
Het |
Ndrg4 |
A |
G |
8: 96,405,014 (GRCm39) |
|
probably null |
Het |
Neu2 |
A |
G |
1: 87,522,782 (GRCm39) |
S72G |
probably benign |
Het |
Or51g1 |
T |
A |
7: 102,634,084 (GRCm39) |
I96F |
probably benign |
Het |
Or8b1c |
T |
C |
9: 38,384,271 (GRCm39) |
V76A |
probably damaging |
Het |
Pcdhb1 |
A |
G |
18: 37,399,516 (GRCm39) |
Y489C |
probably damaging |
Het |
Ppp1r10 |
A |
G |
17: 36,239,784 (GRCm39) |
K501R |
probably damaging |
Het |
Ppp1r9a |
C |
T |
6: 4,906,558 (GRCm39) |
T371I |
probably benign |
Het |
Prpf8 |
A |
T |
11: 75,386,860 (GRCm39) |
T1102S |
probably benign |
Het |
Ric8b |
T |
G |
10: 84,783,761 (GRCm39) |
D206E |
probably benign |
Het |
Sacm1l |
T |
C |
9: 123,389,666 (GRCm39) |
|
probably null |
Het |
Sema6c |
C |
A |
3: 95,080,129 (GRCm39) |
L776M |
probably damaging |
Het |
Serpinb8 |
A |
G |
1: 107,534,776 (GRCm39) |
T32A |
unknown |
Het |
Sh2b3 |
A |
T |
5: 121,967,111 (GRCm39) |
M1K |
probably null |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Spty2d1 |
T |
A |
7: 46,643,100 (GRCm39) |
M664L |
unknown |
Het |
Stk36 |
T |
A |
1: 74,671,984 (GRCm39) |
S895T |
probably null |
Het |
Sycp3 |
G |
A |
10: 88,308,544 (GRCm39) |
E205K |
possibly damaging |
Het |
Taok3 |
A |
G |
5: 117,338,134 (GRCm39) |
|
probably null |
Het |
Tasor2 |
T |
C |
13: 3,635,122 (GRCm39) |
N562D |
possibly damaging |
Het |
Tbc1d16 |
A |
T |
11: 119,048,654 (GRCm39) |
I333N |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Thumpd2 |
C |
T |
17: 81,351,557 (GRCm39) |
W288* |
probably null |
Het |
Tnks2 |
T |
C |
19: 36,849,990 (GRCm39) |
|
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tpm1 |
T |
C |
9: 66,938,322 (GRCm39) |
D254G |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,751,223 (GRCm39) |
L278* |
probably null |
Het |
Zfp37 |
C |
T |
4: 62,110,014 (GRCm39) |
G350D |
probably damaging |
Het |
Zfp777 |
C |
T |
6: 48,002,594 (GRCm39) |
E543K |
probably damaging |
Het |
Zfp81 |
A |
T |
17: 33,553,274 (GRCm39) |
C513* |
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 |
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'- TCTAGCGTACATCGTCAGGG -3'
(R):5'- CATGCTGCATTCGTGCATTTTG -3'
Sequencing Primer
(F):5'- AGGGCCCTCACCTTGACATG -3'
(R):5'- GCCACTTGCCCTGGTAATTC -3'
|
Posted On |
2015-01-23 |