Incidental Mutation 'R5485:Appl1'
| ID |
432536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Appl1
|
| Ensembl Gene |
ENSMUSG00000040760 |
| Gene Name |
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 |
| Synonyms |
7330406P05Rik, 2900057D21Rik |
| MMRRC Submission |
043046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R5485 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
26640943-26692567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26684823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 75
(L75F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036570]
|
| AlphaFold |
Q8K3H0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036570
AA Change: L75F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760
AA Change: L75F
| 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: ENSMUST00000141599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142261
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224406
|
| Meta Mutation Damage Score |
0.1849 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.6%
|
| Validation Efficiency |
98% (59/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,378 (GRCm39) |
V85D |
probably benign |
Het |
| Abcb8 |
A |
G |
5: 24,605,159 (GRCm39) |
N115S |
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,100,760 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
A |
8: 120,479,801 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,864,979 (GRCm39) |
I94F |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,395,643 (GRCm39) |
I194V |
possibly damaging |
Het |
| Crebbp |
A |
C |
16: 3,932,777 (GRCm39) |
D1000E |
probably benign |
Het |
| Ctdnep1 |
C |
T |
11: 69,872,316 (GRCm39) |
R3W |
possibly damaging |
Het |
| Dgkb |
T |
C |
12: 38,177,363 (GRCm39) |
V230A |
probably damaging |
Het |
| Duoxa2 |
T |
C |
2: 122,129,633 (GRCm39) |
F38L |
possibly damaging |
Het |
| Ecd |
T |
C |
14: 20,388,273 (GRCm39) |
S172G |
probably benign |
Het |
| Endog |
G |
T |
2: 30,061,663 (GRCm39) |
|
probably benign |
Het |
| Eqtn |
G |
A |
4: 94,813,193 (GRCm39) |
P131L |
possibly damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,367,767 (GRCm39) |
S290T |
possibly damaging |
Het |
| Glt8d2 |
T |
A |
10: 82,487,282 (GRCm39) |
R319S |
possibly damaging |
Het |
| Gm16686 |
A |
G |
4: 88,673,641 (GRCm39) |
|
probably benign |
Het |
| Gm5709 |
A |
T |
3: 59,542,983 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7381 |
T |
C |
8: 3,892,161 (GRCm39) |
|
noncoding transcript |
Het |
| Gorab |
T |
G |
1: 163,213,871 (GRCm39) |
D353A |
possibly damaging |
Het |
| Gstm1 |
A |
G |
3: 107,924,720 (GRCm39) |
L20P |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,029,884 (GRCm39) |
D312G |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 106,995,528 (GRCm39) |
|
probably null |
Het |
| Mbd4 |
C |
A |
6: 115,827,679 (GRCm39) |
A66S |
probably benign |
Het |
| Mmp27 |
T |
A |
9: 7,573,363 (GRCm39) |
W152R |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
| Mrps18b |
A |
T |
17: 36,225,236 (GRCm39) |
V102D |
probably damaging |
Het |
| Or10g3b |
A |
T |
14: 52,586,776 (GRCm39) |
C242* |
probably null |
Het |
| Peg10 |
T |
A |
6: 4,755,565 (GRCm39) |
M47K |
probably benign |
Het |
| Plxnc1 |
T |
G |
10: 94,758,604 (GRCm39) |
Q364P |
probably benign |
Het |
| Psd |
A |
T |
19: 46,304,528 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
G |
1: 22,522,289 (GRCm39) |
I470L |
possibly damaging |
Het |
| Sbsn |
T |
C |
7: 30,452,542 (GRCm39) |
V519A |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,964,377 (GRCm39) |
V279A |
probably benign |
Het |
| Sfxn5 |
T |
A |
6: 85,309,582 (GRCm39) |
|
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,313,032 (GRCm39) |
M483K |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,931,966 (GRCm39) |
|
probably null |
Het |
| Slco6c1 |
T |
C |
1: 97,053,481 (GRCm39) |
Y140C |
probably damaging |
Het |
| Spata32 |
A |
G |
11: 103,100,122 (GRCm39) |
S128P |
probably damaging |
Het |
| Spty2d1 |
G |
T |
7: 46,647,633 (GRCm39) |
T432K |
possibly damaging |
Het |
| Stx8 |
A |
G |
11: 67,911,792 (GRCm39) |
Q170R |
probably benign |
Het |
| Sytl3 |
G |
A |
17: 6,982,879 (GRCm39) |
V112I |
probably benign |
Het |
| Tdrkh |
A |
G |
3: 94,336,019 (GRCm39) |
I420V |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,992,711 (GRCm39) |
V457A |
probably benign |
Het |
| Tpk1 |
T |
C |
6: 43,642,746 (GRCm39) |
|
probably benign |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Tsen54 |
A |
G |
11: 115,706,048 (GRCm39) |
E90G |
probably benign |
Het |
| Ugt1a2 |
A |
T |
1: 88,128,968 (GRCm39) |
M204L |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,567,972 (GRCm39) |
I32F |
probably benign |
Het |
| Xkr6 |
T |
C |
14: 64,056,833 (GRCm39) |
V248A |
unknown |
Het |
| Zfhx4 |
C |
A |
3: 5,308,067 (GRCm39) |
S431Y |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,180 (GRCm39) |
S1728T |
possibly damaging |
Het |
| Zfp563 |
T |
C |
17: 33,308,540 (GRCm39) |
|
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 |
|
IGL02210:Appl1
|
APN |
14 |
26,647,909 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGATAGCCTATGATAATATTCTGC -3'
(R):5'- TTGTTGTTGGAACCTGAGCTTATAAAG -3'
Sequencing Primer
(F):5'- ATCTAGTACATGTAAGGCCCTGG -3'
(R):5'- GAACATTCCAGTATATCATGTTAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation