Incidental Mutation 'IGL02836:Synrg'
ID |
361680 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Synrg
|
Ensembl Gene |
ENSMUSG00000034940 |
Gene Name |
synergin, gamma |
Synonyms |
Ap1gbp1, L71-5 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02836
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 83892804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049714]
[ENSMUST00000092834]
[ENSMUST00000183456]
[ENSMUST00000183714]
|
AlphaFold |
Q5SV85 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049714
|
SMART Domains |
Protein: ENSMUSP00000059000 Gene: ENSMUSG00000034940
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
coiled coil region
|
113 |
153 |
N/A |
INTRINSIC |
Blast:EH
|
301 |
368 |
8e-6 |
BLAST |
low complexity region
|
560 |
569 |
N/A |
INTRINSIC |
low complexity region
|
644 |
662 |
N/A |
INTRINSIC |
low complexity region
|
770 |
784 |
N/A |
INTRINSIC |
low complexity region
|
1036 |
1050 |
N/A |
INTRINSIC |
low complexity region
|
1295 |
1306 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092834
|
SMART Domains |
Protein: ENSMUSP00000090510 Gene: ENSMUSG00000034940
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
low complexity region
|
53 |
64 |
N/A |
INTRINSIC |
coiled coil region
|
112 |
152 |
N/A |
INTRINSIC |
Blast:EH
|
222 |
289 |
5e-6 |
BLAST |
low complexity region
|
481 |
490 |
N/A |
INTRINSIC |
low complexity region
|
565 |
583 |
N/A |
INTRINSIC |
internal_repeat_1
|
617 |
755 |
7.57e-6 |
PROSPERO |
internal_repeat_1
|
746 |
879 |
7.57e-6 |
PROSPERO |
low complexity region
|
880 |
894 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1138 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183456
|
SMART Domains |
Protein: ENSMUSP00000138969 Gene: ENSMUSG00000034940
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
low complexity region
|
53 |
64 |
N/A |
INTRINSIC |
coiled coil region
|
112 |
152 |
N/A |
INTRINSIC |
low complexity region
|
197 |
209 |
N/A |
INTRINSIC |
Blast:EH
|
401 |
468 |
7e-6 |
BLAST |
low complexity region
|
660 |
669 |
N/A |
INTRINSIC |
low complexity region
|
744 |
762 |
N/A |
INTRINSIC |
internal_repeat_1
|
796 |
934 |
2.26e-5 |
PROSPERO |
internal_repeat_1
|
925 |
1058 |
2.26e-5 |
PROSPERO |
low complexity region
|
1059 |
1073 |
N/A |
INTRINSIC |
low complexity region
|
1318 |
1329 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183714
|
SMART Domains |
Protein: ENSMUSP00000139103 Gene: ENSMUSG00000034940
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
low complexity region
|
53 |
64 |
N/A |
INTRINSIC |
coiled coil region
|
112 |
152 |
N/A |
INTRINSIC |
Blast:EH
|
300 |
367 |
6e-6 |
BLAST |
low complexity region
|
559 |
568 |
N/A |
INTRINSIC |
low complexity region
|
643 |
661 |
N/A |
INTRINSIC |
internal_repeat_1
|
695 |
833 |
1.34e-5 |
PROSPERO |
internal_repeat_1
|
824 |
957 |
1.34e-5 |
PROSPERO |
low complexity region
|
958 |
972 |
N/A |
INTRINSIC |
low complexity region
|
1205 |
1216 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
T |
A |
4: 144,349,782 (GRCm39) |
N346K |
possibly damaging |
Het |
Abca15 |
A |
G |
7: 119,987,439 (GRCm39) |
M1242V |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,139,374 (GRCm39) |
E33D |
probably damaging |
Het |
Abca8a |
T |
C |
11: 109,961,177 (GRCm39) |
K582E |
possibly damaging |
Het |
Abcb6 |
A |
G |
1: 75,154,646 (GRCm39) |
L263P |
probably damaging |
Het |
Adamts2 |
A |
C |
11: 50,678,106 (GRCm39) |
E795A |
probably damaging |
Het |
Avil |
T |
A |
10: 126,844,864 (GRCm39) |
I292N |
probably damaging |
Het |
Cd300ld2 |
T |
C |
11: 114,904,576 (GRCm39) |
D97G |
probably benign |
Het |
Cfh |
A |
C |
1: 140,030,137 (GRCm39) |
I912R |
probably damaging |
Het |
Cyp26c1 |
A |
T |
19: 37,675,604 (GRCm39) |
Q156L |
probably benign |
Het |
Dhx57 |
T |
C |
17: 80,574,978 (GRCm39) |
I614V |
probably damaging |
Het |
Dip2c |
T |
A |
13: 9,660,826 (GRCm39) |
S896T |
probably damaging |
Het |
Dmtn |
G |
T |
14: 70,853,518 (GRCm39) |
P97Q |
probably damaging |
Het |
Dock6 |
A |
T |
9: 21,713,160 (GRCm39) |
V1931E |
probably damaging |
Het |
Dpep2 |
C |
A |
8: 106,717,227 (GRCm39) |
|
probably null |
Het |
Dsg1c |
T |
A |
18: 20,400,986 (GRCm39) |
L163Q |
probably benign |
Het |
Esyt3 |
A |
G |
9: 99,202,960 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,816,783 (GRCm39) |
I2415N |
possibly damaging |
Het |
Fpr-rs6 |
T |
C |
17: 20,403,307 (GRCm39) |
D18G |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,682,725 (GRCm39) |
V74A |
possibly damaging |
Het |
Frem3 |
T |
C |
8: 81,341,010 (GRCm39) |
V1101A |
probably benign |
Het |
Fut8 |
T |
A |
12: 77,496,987 (GRCm39) |
V399E |
probably benign |
Het |
Galntl5 |
G |
T |
5: 25,391,237 (GRCm39) |
K45N |
probably benign |
Het |
Gbe1 |
A |
G |
16: 70,357,983 (GRCm39) |
Y669C |
possibly damaging |
Het |
Gcnt1 |
T |
C |
19: 17,307,493 (GRCm39) |
I77M |
probably benign |
Het |
Itprid1 |
T |
A |
6: 55,875,075 (GRCm39) |
W342R |
probably damaging |
Het |
Mark2 |
A |
G |
19: 7,255,405 (GRCm39) |
|
probably null |
Het |
Muc2 |
A |
T |
7: 141,300,450 (GRCm39) |
|
probably benign |
Het |
Nacc2 |
C |
T |
2: 25,980,329 (GRCm39) |
V36I |
probably damaging |
Het |
Nphp1 |
T |
C |
2: 127,611,543 (GRCm39) |
I268V |
probably benign |
Het |
Oosp3 |
A |
G |
19: 11,678,332 (GRCm39) |
I5V |
probably benign |
Het |
Or9m1 |
T |
G |
2: 87,733,724 (GRCm39) |
T99P |
possibly damaging |
Het |
Pex7 |
A |
G |
10: 19,769,990 (GRCm39) |
|
probably benign |
Het |
Prr14l |
T |
C |
5: 32,988,440 (GRCm39) |
K352E |
probably benign |
Het |
Rheb |
T |
A |
5: 25,008,709 (GRCm39) |
I170F |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,382,714 (GRCm39) |
|
probably null |
Het |
Rps2 |
T |
A |
17: 24,939,650 (GRCm39) |
L107Q |
probably damaging |
Het |
Rrp1 |
A |
T |
10: 78,240,874 (GRCm39) |
|
probably benign |
Het |
Rtcb |
A |
T |
10: 85,779,806 (GRCm39) |
V288D |
possibly damaging |
Het |
Sec14l3 |
T |
C |
11: 4,020,084 (GRCm39) |
F174L |
probably benign |
Het |
Slc28a1 |
G |
A |
7: 80,775,909 (GRCm39) |
V202M |
probably damaging |
Het |
Slc44a3 |
A |
T |
3: 121,325,366 (GRCm39) |
C32S |
probably damaging |
Het |
Syne1 |
G |
A |
10: 5,359,875 (GRCm39) |
|
probably benign |
Het |
Tmem219 |
A |
T |
7: 126,488,121 (GRCm39) |
F265I |
probably benign |
Het |
Tmem94 |
T |
C |
11: 115,683,765 (GRCm39) |
I726T |
probably damaging |
Het |
Trim37 |
T |
C |
11: 87,087,785 (GRCm39) |
M632T |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,790,846 (GRCm39) |
Q627L |
probably damaging |
Het |
Uvrag |
A |
G |
7: 98,628,984 (GRCm39) |
V361A |
possibly damaging |
Het |
Yipf3 |
C |
A |
17: 46,562,520 (GRCm39) |
N308K |
possibly damaging |
Het |
Zfp438 |
A |
G |
18: 5,245,427 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
T |
A |
14: 25,657,166 (GRCm39) |
|
probably benign |
Het |
Zranb3 |
A |
G |
1: 127,888,562 (GRCm39) |
V841A |
probably benign |
Het |
|
Other mutations in Synrg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00473:Synrg
|
APN |
11 |
83,930,072 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01640:Synrg
|
APN |
11 |
83,872,334 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01936:Synrg
|
APN |
11 |
83,910,531 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02311:Synrg
|
APN |
11 |
83,910,630 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02868:Synrg
|
APN |
11 |
83,877,876 (GRCm39) |
splice site |
probably benign |
|
IGL03185:Synrg
|
APN |
11 |
83,872,305 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03224:Synrg
|
APN |
11 |
83,930,492 (GRCm39) |
missense |
possibly damaging |
0.86 |
Polaris
|
UTSW |
11 |
83,910,740 (GRCm39) |
missense |
probably damaging |
1.00 |
P0041:Synrg
|
UTSW |
11 |
83,873,137 (GRCm39) |
splice site |
probably benign |
|
R0023:Synrg
|
UTSW |
11 |
83,899,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R0044:Synrg
|
UTSW |
11 |
83,900,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R0082:Synrg
|
UTSW |
11 |
83,878,736 (GRCm39) |
splice site |
probably benign |
|
R0227:Synrg
|
UTSW |
11 |
83,900,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R0361:Synrg
|
UTSW |
11 |
83,915,163 (GRCm39) |
splice site |
probably null |
|
R0494:Synrg
|
UTSW |
11 |
83,910,369 (GRCm39) |
missense |
probably benign |
|
R0548:Synrg
|
UTSW |
11 |
83,873,014 (GRCm39) |
splice site |
probably benign |
|
R0744:Synrg
|
UTSW |
11 |
83,915,131 (GRCm39) |
nonsense |
probably null |
|
R1114:Synrg
|
UTSW |
11 |
83,914,262 (GRCm39) |
splice site |
probably benign |
|
R1240:Synrg
|
UTSW |
11 |
83,914,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R1989:Synrg
|
UTSW |
11 |
83,910,781 (GRCm39) |
critical splice donor site |
probably null |
|
R2247:Synrg
|
UTSW |
11 |
83,900,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R2263:Synrg
|
UTSW |
11 |
83,867,978 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2420:Synrg
|
UTSW |
11 |
83,900,050 (GRCm39) |
missense |
probably damaging |
0.96 |
R2421:Synrg
|
UTSW |
11 |
83,900,050 (GRCm39) |
missense |
probably damaging |
0.96 |
R2937:Synrg
|
UTSW |
11 |
83,885,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R3783:Synrg
|
UTSW |
11 |
83,892,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R3784:Synrg
|
UTSW |
11 |
83,892,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R3785:Synrg
|
UTSW |
11 |
83,892,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R3787:Synrg
|
UTSW |
11 |
83,892,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R3925:Synrg
|
UTSW |
11 |
83,931,725 (GRCm39) |
missense |
probably benign |
0.03 |
R3945:Synrg
|
UTSW |
11 |
83,914,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R3950:Synrg
|
UTSW |
11 |
83,880,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R5165:Synrg
|
UTSW |
11 |
83,881,761 (GRCm39) |
missense |
probably benign |
0.02 |
R5216:Synrg
|
UTSW |
11 |
83,873,022 (GRCm39) |
missense |
probably damaging |
0.99 |
R5293:Synrg
|
UTSW |
11 |
83,872,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R5561:Synrg
|
UTSW |
11 |
83,893,066 (GRCm39) |
splice site |
probably null |
|
R5575:Synrg
|
UTSW |
11 |
83,900,378 (GRCm39) |
critical splice donor site |
probably null |
|
R6079:Synrg
|
UTSW |
11 |
83,915,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R6085:Synrg
|
UTSW |
11 |
83,930,487 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6138:Synrg
|
UTSW |
11 |
83,915,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R6259:Synrg
|
UTSW |
11 |
83,899,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R6751:Synrg
|
UTSW |
11 |
83,872,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R6795:Synrg
|
UTSW |
11 |
83,910,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R6944:Synrg
|
UTSW |
11 |
83,915,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R7092:Synrg
|
UTSW |
11 |
83,899,683 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7109:Synrg
|
UTSW |
11 |
83,930,498 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7291:Synrg
|
UTSW |
11 |
83,900,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R7489:Synrg
|
UTSW |
11 |
83,881,651 (GRCm39) |
missense |
probably benign |
0.33 |
R7794:Synrg
|
UTSW |
11 |
83,910,400 (GRCm39) |
missense |
probably benign |
0.10 |
R7982:Synrg
|
UTSW |
11 |
83,910,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R8327:Synrg
|
UTSW |
11 |
83,899,731 (GRCm39) |
missense |
probably benign |
0.26 |
R8811:Synrg
|
UTSW |
11 |
83,910,410 (GRCm39) |
missense |
probably benign |
0.16 |
R8926:Synrg
|
UTSW |
11 |
83,881,567 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9109:Synrg
|
UTSW |
11 |
83,900,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R9112:Synrg
|
UTSW |
11 |
83,862,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R9298:Synrg
|
UTSW |
11 |
83,900,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R9494:Synrg
|
UTSW |
11 |
83,881,747 (GRCm39) |
missense |
probably benign |
0.11 |
R9535:Synrg
|
UTSW |
11 |
83,881,660 (GRCm39) |
missense |
probably benign |
0.06 |
R9584:Synrg
|
UTSW |
11 |
83,900,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R9644:Synrg
|
UTSW |
11 |
83,910,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R9728:Synrg
|
UTSW |
11 |
83,915,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R9788:Synrg
|
UTSW |
11 |
83,877,781 (GRCm39) |
missense |
probably benign |
0.02 |
U15987:Synrg
|
UTSW |
11 |
83,915,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |