Incidental Mutation 'R4455:Aktip'
| ID |
329144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aktip
|
| Ensembl Gene |
ENSMUSG00000031667 |
| Gene Name |
AKT interacting protein |
| Synonyms |
Ft1 |
| MMRRC Submission |
041715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4455 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
91834267-91862122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91851479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 248
(E248G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034091]
[ENSMUST00000109609]
[ENSMUST00000120213]
[ENSMUST00000120349]
[ENSMUST00000120426]
[ENSMUST00000125257]
[ENSMUST00000209311]
[ENSMUST00000209444]
[ENSMUST00000211136]
[ENSMUST00000209518]
|
| AlphaFold |
Q64362 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034091
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
|
CYCLIN
|
44 |
131 |
5.81e-1 |
SMART |
|
DUF3452
|
94 |
236 |
2.36e-77 |
SMART |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
RB_A
|
414 |
606 |
3.42e-106 |
SMART |
|
low complexity region
|
722 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
771 |
N/A |
INTRINSIC |
|
low complexity region
|
776 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
818 |
N/A |
INTRINSIC |
|
CYCLIN
|
845 |
1008 |
2.86e-6 |
SMART |
|
Rb_C
|
1019 |
1135 |
5.42e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109609
AA Change: E248G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105238
Gene: ENSMUSG00000031667
AA Change: E248G
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
77 |
222 |
3.97e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120213
AA Change: E248G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112375
Gene: ENSMUSG00000031667
AA Change: E248G
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
77 |
222 |
3.97e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120349
AA Change: E248G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113769
Gene: ENSMUSG00000031667
AA Change: E248G
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
77 |
222 |
3.97e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120426
AA Change: E248G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113379
Gene: ENSMUSG00000031667
AA Change: E248G
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
77 |
222 |
3.97e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125257
AA Change: E248G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119277
Gene: ENSMUSG00000031667
AA Change: E248G
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
77 |
222 |
3.97e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209311
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211136
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211618
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210426
|
| Meta Mutation Damage Score |
0.0701 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,395 (GRCm39) |
H166R |
possibly damaging |
Het |
| Ankk1 |
A |
G |
9: 49,329,366 (GRCm39) |
V336A |
probably benign |
Het |
| Aoc1 |
T |
A |
6: 48,882,401 (GRCm39) |
D92E |
probably damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,964,394 (GRCm39) |
N134I |
possibly damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,736,635 (GRCm39) |
I1769T |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,483,423 (GRCm39) |
S1434T |
probably benign |
Het |
| Baz1a |
C |
A |
12: 54,958,153 (GRCm39) |
V1033L |
probably benign |
Het |
| Bbs12 |
T |
C |
3: 37,374,461 (GRCm39) |
V418A |
probably damaging |
Het |
| Cacnb4 |
A |
G |
2: 52,355,665 (GRCm39) |
V214A |
probably damaging |
Het |
| Calhm6 |
A |
T |
10: 34,002,531 (GRCm39) |
I184N |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,574,052 (GRCm39) |
V153A |
probably damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,309,395 (GRCm39) |
S330L |
possibly damaging |
Het |
| Cdh11 |
T |
C |
8: 103,374,455 (GRCm39) |
D500G |
probably benign |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Clca4a |
G |
A |
3: 144,663,020 (GRCm39) |
P610S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,172,031 (GRCm39) |
L807P |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,563,103 (GRCm39) |
L869P |
probably damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Grb10 |
T |
G |
11: 11,917,665 (GRCm39) |
Q72P |
possibly damaging |
Het |
| H3f3a |
G |
T |
1: 180,630,668 (GRCm39) |
R129S |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,034,374 (GRCm39) |
|
probably null |
Het |
| Kansl1 |
T |
C |
11: 104,315,184 (GRCm39) |
T285A |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,559 (GRCm39) |
C282S |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,762,438 (GRCm39) |
V89A |
probably damaging |
Het |
| Mllt1 |
A |
G |
17: 57,226,965 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ms4a14 |
T |
A |
19: 11,280,990 (GRCm39) |
T523S |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,555 (GRCm39) |
S1834P |
unknown |
Het |
| Necap1 |
C |
T |
6: 122,864,328 (GRCm39) |
S270F |
possibly damaging |
Het |
| Piwil2 |
T |
C |
14: 70,628,014 (GRCm39) |
M752V |
probably benign |
Het |
| Prune1 |
G |
A |
3: 95,189,207 (GRCm39) |
|
probably null |
Het |
| Ptpro |
A |
G |
6: 137,370,657 (GRCm39) |
E586G |
probably damaging |
Het |
| Rela |
T |
A |
19: 5,697,290 (GRCm39) |
I499K |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Scara5 |
T |
A |
14: 66,000,196 (GRCm39) |
D455E |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
| Sspo |
C |
T |
6: 48,442,450 (GRCm39) |
R1982C |
probably damaging |
Het |
| Tsen34 |
G |
A |
7: 3,698,097 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Utp18 |
G |
A |
11: 93,776,273 (GRCm39) |
R71C |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,855,698 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 19,980,743 (GRCm39) |
K187R |
possibly damaging |
Het |
|
| Other mutations in Aktip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01958:Aktip
|
APN |
8 |
91,852,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Aktip
|
APN |
8 |
91,853,520 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02358:Aktip
|
APN |
8 |
91,853,520 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03085:Aktip
|
APN |
8 |
91,852,651 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1564:Aktip
|
UTSW |
8 |
91,857,709 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R1809:Aktip
|
UTSW |
8 |
91,856,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Aktip
|
UTSW |
8 |
91,852,505 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4067:Aktip
|
UTSW |
8 |
91,852,466 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5052:Aktip
|
UTSW |
8 |
91,856,279 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5330:Aktip
|
UTSW |
8 |
91,853,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6134:Aktip
|
UTSW |
8 |
91,856,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6178:Aktip
|
UTSW |
8 |
91,852,671 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6984:Aktip
|
UTSW |
8 |
91,853,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Aktip
|
UTSW |
8 |
91,856,285 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8213:Aktip
|
UTSW |
8 |
91,851,494 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8386:Aktip
|
UTSW |
8 |
91,857,674 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8850:Aktip
|
UTSW |
8 |
91,853,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9712:Aktip
|
UTSW |
8 |
91,856,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGGCTTCTTCTGGGCAC -3'
(R):5'- GCTCTTTAGCCAGGGATATGG -3'
Sequencing Primer
(F):5'- TTCTTCTGGGCACAATCAAAAACAG -3'
(R):5'- CCTGGTCTAAAGGGCAAGTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation