Incidental Mutation 'IGL02210:Appl1'
| ID |
284691 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Appl1
|
| Ensembl Gene |
ENSMUSG00000040760 |
| Gene Name |
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 |
| Synonyms |
7330406P05Rik, 2900057D21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
IGL02210
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
26640943-26692567 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 26647909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036570]
|
| AlphaFold |
Q8K3H0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036570
|
| SMART Domains |
Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
7 |
249 |
2.6e-66 |
PFAM |
|
PH
|
278 |
377 |
1.4e-3 |
SMART |
|
low complexity region
|
425 |
434 |
N/A |
INTRINSIC |
|
Pfam:PID
|
501 |
632 |
6.6e-12 |
PFAM |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223843
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,633,097 (GRCm39) |
F215S |
probably damaging |
Het |
| Acvr2a |
A |
T |
2: 48,788,538 (GRCm39) |
H422L |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,492,852 (GRCm39) |
Y908C |
possibly damaging |
Het |
| Alyref |
A |
C |
11: 120,488,499 (GRCm39) |
S110A |
possibly damaging |
Het |
| Ankrd1 |
T |
C |
19: 36,095,714 (GRCm39) |
D86G |
probably damaging |
Het |
| Anpep |
T |
A |
7: 79,476,652 (GRCm39) |
Y29F |
probably benign |
Het |
| Arrdc5 |
T |
C |
17: 56,607,026 (GRCm39) |
D73G |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,609,201 (GRCm39) |
Y142* |
probably null |
Het |
| Clec4a3 |
T |
A |
6: 122,931,067 (GRCm39) |
I52N |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,229,242 (GRCm39) |
P1949S |
probably benign |
Het |
| Crybb2 |
T |
A |
5: 113,206,253 (GRCm39) |
Q194L |
probably damaging |
Het |
| Dmxl2 |
A |
C |
9: 54,311,333 (GRCm39) |
L1796R |
probably damaging |
Het |
| Ecm1 |
A |
G |
3: 95,643,289 (GRCm39) |
F337S |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,017,710 (GRCm39) |
S596P |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,946,002 (GRCm39) |
T1632A |
probably benign |
Het |
| Gm5070 |
T |
G |
3: 95,317,936 (GRCm39) |
|
noncoding transcript |
Het |
| Hps5 |
T |
C |
7: 46,435,994 (GRCm39) |
Y184C |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,367,128 (GRCm39) |
|
probably null |
Het |
| Lipo5 |
A |
T |
19: 33,445,277 (GRCm39) |
N97K |
unknown |
Het |
| Mis18bp1 |
A |
T |
12: 65,183,605 (GRCm39) |
Y922* |
probably null |
Het |
| Mob3c |
C |
A |
4: 115,690,952 (GRCm39) |
H181N |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,054 (GRCm39) |
T711S |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,602,851 (GRCm39) |
T1233A |
probably benign |
Het |
| Nherf4 |
T |
G |
9: 44,159,614 (GRCm39) |
T461P |
probably benign |
Het |
| Or12e8 |
T |
A |
2: 87,188,347 (GRCm39) |
D186E |
probably damaging |
Het |
| Or12k8 |
G |
T |
2: 36,975,631 (GRCm39) |
T43N |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,225,053 (GRCm39) |
E1817G |
possibly damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,686 (GRCm39) |
Y161H |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,990,858 (GRCm39) |
V420A |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,308,106 (GRCm39) |
C316S |
probably damaging |
Het |
| Ppp1cb |
T |
A |
5: 32,640,818 (GRCm39) |
|
probably benign |
Het |
| Slc29a4 |
T |
C |
5: 142,704,534 (GRCm39) |
Y359H |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,477,426 (GRCm39) |
I4982T |
probably damaging |
Het |
| Sstr4 |
T |
A |
2: 148,238,229 (GRCm39) |
L280Q |
probably damaging |
Het |
| Stap1 |
G |
A |
5: 86,225,920 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
G |
4: 118,247,020 (GRCm39) |
V865A |
possibly damaging |
Het |
| Tnr |
T |
A |
1: 159,679,671 (GRCm39) |
V215D |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,860,613 (GRCm39) |
L288P |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,959,319 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
T |
C |
2: 126,559,976 (GRCm39) |
|
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,789,446 (GRCm39) |
Y403C |
possibly damaging |
Het |
| Wnk2 |
T |
C |
13: 49,244,345 (GRCm39) |
E497G |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,250,890 (GRCm39) |
K21E |
probably benign |
Het |
|
| Other mutations in Appl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01013:Appl1
|
APN |
14 |
26,671,433 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01615:Appl1
|
APN |
14 |
26,681,427 (GRCm39) |
splice site |
probably benign |
|
|
IGL01633:Appl1
|
APN |
14 |
26,684,795 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01945:Appl1
|
APN |
14 |
26,650,612 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02650:Appl1
|
APN |
14 |
26,672,665 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02674:Appl1
|
APN |
14 |
26,671,418 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02803:Appl1
|
APN |
14 |
26,673,473 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0129:Appl1
|
UTSW |
14 |
26,650,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Appl1
|
UTSW |
14 |
26,684,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Appl1
|
UTSW |
14 |
26,664,695 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0411:Appl1
|
UTSW |
14 |
26,662,213 (GRCm39) |
missense |
probably benign |
|
|
R1213:Appl1
|
UTSW |
14 |
26,665,950 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1277:Appl1
|
UTSW |
14 |
26,649,813 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1668:Appl1
|
UTSW |
14 |
26,645,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Appl1
|
UTSW |
14 |
26,649,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Appl1
|
UTSW |
14 |
26,647,470 (GRCm39) |
splice site |
probably benign |
|
|
R2145:Appl1
|
UTSW |
14 |
26,671,576 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3720:Appl1
|
UTSW |
14 |
26,649,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Appl1
|
UTSW |
14 |
26,649,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Appl1
|
UTSW |
14 |
26,650,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Appl1
|
UTSW |
14 |
26,647,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5139:Appl1
|
UTSW |
14 |
26,669,112 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5485:Appl1
|
UTSW |
14 |
26,684,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:Appl1
|
UTSW |
14 |
26,645,737 (GRCm39) |
nonsense |
probably null |
|
|
R5795:Appl1
|
UTSW |
14 |
26,664,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7044:Appl1
|
UTSW |
14 |
26,650,634 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7318:Appl1
|
UTSW |
14 |
26,685,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7447:Appl1
|
UTSW |
14 |
26,681,409 (GRCm39) |
nonsense |
probably null |
|
|
R7943:Appl1
|
UTSW |
14 |
26,667,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8110:Appl1
|
UTSW |
14 |
26,649,751 (GRCm39) |
nonsense |
probably null |
|
|
R8129:Appl1
|
UTSW |
14 |
26,671,466 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8160:Appl1
|
UTSW |
14 |
26,650,592 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8211:Appl1
|
UTSW |
14 |
26,667,555 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8239:Appl1
|
UTSW |
14 |
26,686,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8379:Appl1
|
UTSW |
14 |
26,647,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8464:Appl1
|
UTSW |
14 |
26,674,985 (GRCm39) |
nonsense |
probably null |
|
|
R8699:Appl1
|
UTSW |
14 |
26,662,212 (GRCm39) |
missense |
probably benign |
|
|
R9023:Appl1
|
UTSW |
14 |
26,685,652 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9090:Appl1
|
UTSW |
14 |
26,669,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9203:Appl1
|
UTSW |
14 |
26,682,970 (GRCm39) |
nonsense |
probably null |
|
|
R9227:Appl1
|
UTSW |
14 |
26,645,692 (GRCm39) |
missense |
unknown |
|
|
R9230:Appl1
|
UTSW |
14 |
26,645,692 (GRCm39) |
missense |
unknown |
|
|
R9243:Appl1
|
UTSW |
14 |
26,649,710 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9271:Appl1
|
UTSW |
14 |
26,669,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9378:Appl1
|
UTSW |
14 |
26,649,784 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation