Incidental Mutation 'R0024:Akip1'
| ID |
15162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akip1
|
| Ensembl Gene |
ENSMUSG00000031023 |
| Gene Name |
A kinase interacting protein 1 |
| Synonyms |
D7H11orf17, D930014E17Rik, ICRFP703B1614Q5.6, ORF27, BCA3, ICRFP703N2430Q5.6 |
| MMRRC Submission |
038319-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0024 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109302897-109311396 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109303345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 63
(S63P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033335]
[ENSMUST00000143581]
[ENSMUST00000207745]
|
| AlphaFold |
Q9JJR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033335
AA Change: S63P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000143581
AA Change: V68A
|
| SMART Domains |
Protein: ENSMUSP00000115021
Gene: ENSMUSG00000031023
AA Change: V68A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207292
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207745
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 79.2%
- 3x: 69.7%
- 10x: 44.0%
- 20x: 23.5%
|
| Validation Efficiency |
95% (75/79) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
C |
8: 84,454,913 (GRCm39) |
T260A |
probably damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
| Ankrd34c |
G |
A |
9: 89,611,580 (GRCm39) |
P254S |
possibly damaging |
Het |
| Aqp8 |
T |
C |
7: 123,066,663 (GRCm39) |
I256T |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
| Astn1 |
G |
A |
1: 158,511,785 (GRCm39) |
S1209N |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,576,818 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
| Cadm4 |
T |
C |
7: 24,202,169 (GRCm39) |
L336P |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,123,866 (GRCm39) |
H1131R |
probably damaging |
Het |
| Dll3 |
A |
G |
7: 27,999,586 (GRCm39) |
|
probably benign |
Het |
| Dscam |
G |
A |
16: 96,394,585 (GRCm39) |
R1906* |
probably null |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,869,340 (GRCm39) |
T676A |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,420,507 (GRCm39) |
M428T |
probably benign |
Het |
| Fry |
T |
G |
5: 150,304,268 (GRCm39) |
S553A |
probably benign |
Het |
| Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
| Gm14340 |
T |
A |
2: 180,466,043 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9457 |
A |
C |
8: 4,863,131 (GRCm39) |
|
noncoding transcript |
Het |
| Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,401,687 (GRCm39) |
T473A |
probably benign |
Het |
| Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
| Krt6a |
A |
G |
15: 101,599,150 (GRCm39) |
|
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,828 (GRCm39) |
T164A |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,955,109 (GRCm39) |
Y701N |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,133,399 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,303 (GRCm39) |
I79N |
possibly damaging |
Het |
| Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rsc1a1 |
T |
C |
4: 141,412,583 (GRCm39) |
K110E |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,025,537 (GRCm39) |
|
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,688,956 (GRCm39) |
|
probably benign |
Het |
| Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,295,264 (GRCm39) |
I310M |
probably damaging |
Het |
| Tpm3 |
C |
A |
3: 89,994,756 (GRCm39) |
|
probably null |
Het |
| Ttc27 |
T |
C |
17: 75,077,259 (GRCm39) |
F385L |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
probably benign |
Het |
|
| Other mutations in Akip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01107:Akip1
|
APN |
7 |
109,311,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:Akip1
|
UTSW |
7 |
109,306,726 (GRCm39) |
unclassified |
probably benign |
|
|
R1872:Akip1
|
UTSW |
7 |
109,310,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Akip1
|
UTSW |
7 |
109,306,613 (GRCm39) |
unclassified |
probably benign |
|
|
R4172:Akip1
|
UTSW |
7 |
109,306,716 (GRCm39) |
nonsense |
probably null |
|
|
R4173:Akip1
|
UTSW |
7 |
109,306,716 (GRCm39) |
nonsense |
probably null |
|
|
R4174:Akip1
|
UTSW |
7 |
109,306,716 (GRCm39) |
nonsense |
probably null |
|
|
R4548:Akip1
|
UTSW |
7 |
109,304,193 (GRCm39) |
nonsense |
probably null |
|
|
R4675:Akip1
|
UTSW |
7 |
109,308,188 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4687:Akip1
|
UTSW |
7 |
109,304,193 (GRCm39) |
nonsense |
probably null |
|
|
R4965:Akip1
|
UTSW |
7 |
109,310,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5867:Akip1
|
UTSW |
7 |
109,306,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6235:Akip1
|
UTSW |
7 |
109,306,620 (GRCm39) |
missense |
probably benign |
|
|
R7664:Akip1
|
UTSW |
7 |
109,308,187 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7743:Akip1
|
UTSW |
7 |
109,311,035 (GRCm39) |
missense |
probably benign |
|
|
R7878:Akip1
|
UTSW |
7 |
109,306,609 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8006:Akip1
|
UTSW |
7 |
109,303,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8435:Akip1
|
UTSW |
7 |
109,304,193 (GRCm39) |
missense |
unknown |
|
|
R8474:Akip1
|
UTSW |
7 |
109,306,697 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9367:Akip1
|
UTSW |
7 |
109,308,156 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-12-12 |
Incidental Mutation