Incidental Mutation 'IGL01107:Akip1'
| ID |
51554 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akip1
|
| Ensembl Gene |
ENSMUSG00000031023 |
| Gene Name |
A kinase interacting protein 1 |
| Synonyms |
D7H11orf17, D930014E17Rik, ICRFP703B1614Q5.6, ORF27, BCA3, ICRFP703N2430Q5.6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
109302897-109311396 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 109311045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 195
(T195M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033334]
[ENSMUST00000033335]
[ENSMUST00000106735]
[ENSMUST00000143581]
[ENSMUST00000145211]
|
| AlphaFold |
Q9JJR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033334
|
| SMART Domains |
Protein: ENSMUSP00000033334
Gene: ENSMUSG00000031022
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4537
|
85 |
225 |
1.1e-41 |
PFAM |
|
low complexity region
|
258 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033335
AA Change: T195M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106735
|
| SMART Domains |
Protein: ENSMUSP00000102346
Gene: ENSMUSG00000031022
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4537
|
85 |
225 |
6.3e-44 |
PFAM |
|
low complexity region
|
258 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143581
|
| SMART Domains |
Protein: ENSMUSP00000115021
Gene: ENSMUSG00000031023
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145211
|
| SMART Domains |
Protein: ENSMUSP00000115006
Gene: ENSMUSG00000031022
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4537
|
24 |
77 |
8.3e-12 |
PFAM |
|
low complexity region
|
110 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147497
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,687,948 (GRCm39) |
F215Y |
probably damaging |
Het |
| 2700049A03Rik |
T |
C |
12: 71,241,242 (GRCm39) |
|
probably null |
Het |
| Arhgef16 |
T |
C |
4: 154,364,701 (GRCm39) |
N631S |
probably benign |
Het |
| Brat1 |
C |
T |
5: 140,702,932 (GRCm39) |
S544L |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,958,342 (GRCm39) |
|
probably null |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnajc4 |
C |
T |
19: 6,966,869 (GRCm39) |
R153H |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
| E2f4 |
T |
A |
8: 106,030,809 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,665,969 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,742,752 (GRCm39) |
D343G |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,945 (GRCm39) |
E412G |
probably damaging |
Het |
| Il4ra |
G |
T |
7: 125,175,086 (GRCm39) |
L431F |
possibly damaging |
Het |
| Ilrun |
A |
T |
17: 28,005,043 (GRCm39) |
|
probably null |
Het |
| Krt86 |
T |
A |
15: 101,373,306 (GRCm39) |
L200Q |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,642,947 (GRCm39) |
F126I |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,567,085 (GRCm39) |
T79A |
probably benign |
Het |
| Pramel13 |
A |
T |
4: 144,119,664 (GRCm39) |
I301N |
probably benign |
Het |
| Psg29 |
G |
T |
7: 16,938,850 (GRCm39) |
L41F |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,599,797 (GRCm39) |
|
probably benign |
Het |
| Reg3a |
A |
G |
6: 78,360,228 (GRCm39) |
D136G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,001,315 (GRCm39) |
T1590A |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,934,692 (GRCm39) |
L300* |
probably null |
Het |
| Sin3b |
T |
C |
8: 73,457,733 (GRCm39) |
C150R |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,051,005 (GRCm39) |
H942N |
probably damaging |
Het |
| Tas2r105 |
A |
G |
6: 131,664,074 (GRCm39) |
V118A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,868,662 (GRCm39) |
S388G |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,809 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,618 (GRCm39) |
Y110C |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,826,370 (GRCm39) |
Y800H |
probably damaging |
Het |
| Zdhhc20 |
T |
A |
14: 58,103,046 (GRCm39) |
E101V |
probably damaging |
Het |
|
| Other mutations in Akip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0024:Akip1
|
UTSW |
7 |
109,303,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-06-21 |
Incidental Mutation