Incidental Mutation 'R4173:Akip1'
| ID |
500494 |
| 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 |
041012-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4173 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109302897-109311396 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 109306716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 138
(Q138*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033334]
[ENSMUST00000033335]
[ENSMUST00000106735]
[ENSMUST00000143581]
[ENSMUST00000207745]
|
| 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 null
Transcript: ENSMUST00000033335
AA Change: Q138*
|
| 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 |
silent
Transcript: ENSMUST00000143581
|
| SMART Domains |
Protein: ENSMUSP00000115021
Gene: ENSMUSG00000031023
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdk1 |
T |
C |
10: 69,180,991 (GRCm39) |
D73G |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,795,214 (GRCm39) |
E983G |
probably damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,047 (GRCm39) |
V217A |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,153,540 (GRCm39) |
E142G |
probably damaging |
Het |
| Nr1h5 |
C |
T |
3: 102,859,546 (GRCm39) |
R171H |
probably damaging |
Het |
| Opcml |
C |
T |
9: 28,814,654 (GRCm39) |
T302I |
probably benign |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,349,337 (GRCm39) |
F18I |
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,613,201 (GRCm39) |
K265R |
probably benign |
Het |
| Rora |
C |
A |
9: 68,561,192 (GRCm39) |
T35K |
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,439,141 (GRCm39) |
N189S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc25a45 |
C |
A |
19: 5,930,611 (GRCm39) |
Y99* |
probably null |
Het |
| Smgc |
T |
C |
15: 91,744,759 (GRCm39) |
S655P |
possibly damaging |
Het |
| Thbs2 |
A |
C |
17: 14,901,893 (GRCm39) |
|
probably null |
Het |
| Timd2 |
T |
C |
11: 46,561,787 (GRCm39) |
T286A |
probably benign |
Het |
| Trav6d-3 |
A |
G |
14: 52,962,806 (GRCm39) |
I14M |
probably benign |
Het |
| Trim28 |
A |
G |
7: 12,763,805 (GRCm39) |
D622G |
probably benign |
Het |
| Txnl4b |
G |
A |
8: 110,295,706 (GRCm39) |
V37I |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Vps13c |
A |
G |
9: 67,843,595 (GRCm39) |
N1959D |
probably benign |
Het |
| Xkr4 |
A |
G |
1: 3,286,711 (GRCm39) |
F493S |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,889,612 (GRCm39) |
V665A |
probably damaging |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGTAGTCTGAAATTTTGGCC -3'
(R):5'- CCAGGAGAACAGGTTCAACTG -3'
Sequencing Primer
(F):5'- TGTCTATGCCAGAGGAAG -3'
(R):5'- ACAGGTTCAACTGAAGATCCTAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation