Incidental Mutation 'R4172:Akip1'
| ID |
500493 |
| 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 |
044391-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4172 (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: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdc5l |
A |
G |
17: 45,730,698 (GRCm39) |
I196T |
probably damaging |
Het |
| Dnah7b |
G |
T |
1: 46,266,106 (GRCm39) |
R2225L |
probably damaging |
Het |
| Gfra2 |
C |
A |
14: 71,133,521 (GRCm39) |
T117K |
possibly damaging |
Het |
| Gle1 |
T |
C |
2: 29,828,538 (GRCm39) |
I120T |
probably benign |
Het |
| Guf1 |
T |
A |
5: 69,715,572 (GRCm39) |
N52K |
possibly damaging |
Het |
| Helq |
T |
C |
5: 100,919,713 (GRCm39) |
K813E |
probably benign |
Het |
| Ighv7-4 |
A |
T |
12: 114,186,635 (GRCm39) |
F46I |
probably damaging |
Het |
| Il6st |
G |
A |
13: 112,631,861 (GRCm39) |
D467N |
probably benign |
Het |
| Jak1 |
C |
A |
4: 101,016,329 (GRCm39) |
V812L |
probably benign |
Het |
| Kank4 |
G |
T |
4: 98,667,358 (GRCm39) |
T363K |
probably damaging |
Het |
| Lcat |
C |
A |
8: 106,669,059 (GRCm39) |
W72L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,452,759 (GRCm39) |
S392P |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,711,358 (GRCm39) |
F456L |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,183,247 (GRCm39) |
R709W |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,807,951 (GRCm39) |
N337S |
probably damaging |
Het |
| Npbwr1 |
A |
G |
1: 5,987,155 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,079 (GRCm38) |
V230E |
probably damaging |
Het |
| Paox |
G |
A |
7: 139,713,941 (GRCm39) |
G234R |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,881,120 (GRCm39) |
H1095Y |
probably benign |
Het |
| Rad51c |
T |
C |
11: 87,293,572 (GRCm39) |
T77A |
probably damaging |
Het |
| Ryr3 |
C |
A |
2: 112,624,815 (GRCm39) |
V2202F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Snx27 |
T |
C |
3: 94,410,794 (GRCm39) |
H452R |
probably benign |
Het |
| Son |
C |
T |
16: 91,456,250 (GRCm39) |
H1666Y |
probably damaging |
Het |
| Spata25 |
C |
A |
2: 164,669,408 (GRCm39) |
W201L |
possibly damaging |
Het |
| Spint2 |
A |
G |
7: 28,963,097 (GRCm39) |
V67A |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,691,268 (GRCm39) |
Y322C |
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,109 (GRCm39) |
Y409C |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,930,649 (GRCm39) |
N283D |
probably benign |
Het |
| Trpv6 |
T |
C |
6: 41,602,432 (GRCm39) |
D318G |
probably damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,033,543 (GRCm39) |
D39G |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Vwa5a |
T |
C |
9: 38,635,166 (GRCm39) |
F224L |
probably damaging |
Het |
| Zfp445 |
T |
A |
9: 122,681,002 (GRCm39) |
M980L |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCACAAGTATCGTAGTCTG -3'
(R):5'- TCCAGGAGAACAGGTTCAACTG -3'
Sequencing Primer
(F):5'- ATCGTAGTCTGAAATTTTGGCCAG -3'
(R):5'- ACAGGTTCAACTGAAGATCCTAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation