Incidental Mutation 'IGL01936:Synrg'
ID |
180698 |
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 # |
IGL01936
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83910531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 1000
(F1000Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049714]
[ENSMUST00000092834]
[ENSMUST00000183456]
[ENSMUST00000183714]
|
AlphaFold |
Q5SV85 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049714
AA Change: F977Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000059000 Gene: ENSMUSG00000034940 AA Change: F977Y
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
AA Change: F821Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000090510 Gene: ENSMUSG00000034940 AA Change: F821Y
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
AA Change: F1000Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000138969 Gene: ENSMUSG00000034940 AA Change: F1000Y
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
AA Change: F899Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139103 Gene: ENSMUSG00000034940 AA Change: F899Y
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184239
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
A |
5: 90,009,282 (GRCm39) |
H127L |
probably benign |
Het |
Adamtsl3 |
T |
C |
7: 82,244,579 (GRCm39) |
V419A |
possibly damaging |
Het |
Arhgap31 |
T |
A |
16: 38,423,287 (GRCm39) |
L926F |
probably damaging |
Het |
Asgr2 |
A |
T |
11: 69,988,877 (GRCm39) |
|
probably null |
Het |
C3ar1 |
T |
A |
6: 122,828,194 (GRCm39) |
T8S |
probably benign |
Het |
Caskin2 |
T |
C |
11: 115,695,543 (GRCm39) |
I273V |
probably damaging |
Het |
Ccnl2 |
T |
A |
4: 155,904,856 (GRCm39) |
C242S |
probably damaging |
Het |
Cdkn2a |
A |
T |
4: 89,212,569 (GRCm39) |
|
probably null |
Het |
Cfap45 |
T |
G |
1: 172,361,616 (GRCm39) |
M231R |
probably damaging |
Het |
Clcn7 |
A |
C |
17: 25,374,350 (GRCm39) |
N464H |
probably benign |
Het |
Col20a1 |
T |
A |
2: 180,651,161 (GRCm39) |
|
probably benign |
Het |
Col7a1 |
T |
A |
9: 108,797,067 (GRCm39) |
|
probably benign |
Het |
Cops7a |
T |
C |
6: 124,939,379 (GRCm39) |
D90G |
probably benign |
Het |
Ctcf |
T |
C |
8: 106,396,864 (GRCm39) |
V363A |
probably benign |
Het |
Cyp2j12 |
A |
G |
4: 96,021,306 (GRCm39) |
V100A |
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,736,800 (GRCm39) |
F1085Y |
possibly damaging |
Het |
Drc7 |
T |
A |
8: 95,800,760 (GRCm39) |
F594Y |
possibly damaging |
Het |
Ehbp1l1 |
C |
A |
19: 5,768,277 (GRCm39) |
E1009* |
probably null |
Het |
Epg5 |
C |
A |
18: 78,028,316 (GRCm39) |
R1286S |
probably damaging |
Het |
Etv1 |
T |
C |
12: 38,885,060 (GRCm39) |
|
probably benign |
Het |
Exosc7 |
T |
C |
9: 122,964,956 (GRCm39) |
|
probably benign |
Het |
Fam227a |
T |
C |
15: 79,496,747 (GRCm39) |
D610G |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,033,923 (GRCm39) |
M2525K |
probably benign |
Het |
Gimap5 |
G |
T |
6: 48,729,999 (GRCm39) |
A190S |
probably damaging |
Het |
Glcci1 |
T |
A |
6: 8,579,596 (GRCm39) |
S79T |
probably damaging |
Het |
Gpnmb |
C |
T |
6: 49,024,384 (GRCm39) |
T233I |
probably null |
Het |
Hdac1-ps |
T |
C |
17: 78,799,558 (GRCm39) |
V183A |
probably damaging |
Het |
Hyls1 |
T |
C |
9: 35,473,363 (GRCm39) |
I18V |
probably benign |
Het |
Ighv1-63 |
C |
T |
12: 115,459,274 (GRCm39) |
E108K |
probably damaging |
Het |
Ighv5-12 |
C |
A |
12: 113,665,927 (GRCm39) |
R57L |
probably damaging |
Het |
Igkv5-37 |
T |
C |
6: 69,940,323 (GRCm39) |
Y107C |
probably damaging |
Het |
Il20ra |
T |
A |
10: 19,631,591 (GRCm39) |
V264D |
probably damaging |
Het |
Jph1 |
A |
T |
1: 17,167,608 (GRCm39) |
V74E |
probably damaging |
Het |
Kcnab1 |
C |
T |
3: 65,265,695 (GRCm39) |
L280F |
probably damaging |
Het |
Kcnk1 |
T |
C |
8: 126,751,826 (GRCm39) |
F144S |
probably damaging |
Het |
Kcnq1 |
G |
A |
7: 142,738,241 (GRCm39) |
E294K |
possibly damaging |
Het |
Kdm4b |
T |
A |
17: 56,704,355 (GRCm39) |
V813E |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,949,439 (GRCm39) |
F1937I |
probably damaging |
Het |
Ldb2 |
G |
A |
5: 44,637,586 (GRCm39) |
R241W |
probably damaging |
Het |
Lgr5 |
T |
C |
10: 115,288,319 (GRCm39) |
N703S |
probably damaging |
Het |
Map4k1 |
A |
T |
7: 28,688,032 (GRCm39) |
M227L |
possibly damaging |
Het |
Mbnl1 |
T |
A |
3: 60,520,940 (GRCm39) |
M268K |
possibly damaging |
Het |
Mcm2 |
C |
A |
6: 88,868,708 (GRCm39) |
G350C |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,082,599 (GRCm39) |
T1390S |
possibly damaging |
Het |
Npat |
T |
A |
9: 53,469,526 (GRCm39) |
|
probably benign |
Het |
Nr2e1 |
T |
A |
10: 42,443,969 (GRCm39) |
D251V |
possibly damaging |
Het |
Or1x2 |
A |
G |
11: 50,918,162 (GRCm39) |
N111S |
probably benign |
Het |
Or4d10 |
C |
T |
19: 12,051,421 (GRCm39) |
V192I |
probably benign |
Het |
Or5b107 |
C |
A |
19: 13,142,767 (GRCm39) |
P130T |
probably damaging |
Het |
Plekha5 |
T |
A |
6: 140,470,621 (GRCm39) |
H87Q |
probably damaging |
Het |
Polr3a |
A |
G |
14: 24,529,256 (GRCm39) |
V368A |
probably damaging |
Het |
Psmb8 |
T |
A |
17: 34,419,168 (GRCm39) |
L154Q |
probably damaging |
Het |
Rab40c |
A |
C |
17: 26,103,644 (GRCm39) |
C140G |
probably damaging |
Het |
Ranbp17 |
G |
A |
11: 33,437,689 (GRCm39) |
T183I |
probably benign |
Het |
Ruvbl2 |
T |
C |
7: 45,078,122 (GRCm39) |
E117G |
probably damaging |
Het |
Serpinb3b |
T |
A |
1: 107,082,368 (GRCm39) |
M299L |
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,678,530 (GRCm39) |
H111R |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,452,821 (GRCm39) |
P2843H |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,144,908 (GRCm39) |
T389A |
probably benign |
Het |
Thbs2 |
C |
T |
17: 14,908,076 (GRCm39) |
S229N |
probably benign |
Het |
Thsd1 |
G |
A |
8: 22,742,247 (GRCm39) |
C305Y |
probably damaging |
Het |
Ticrr |
C |
A |
7: 79,344,297 (GRCm39) |
D1387E |
probably benign |
Het |
Tmem145 |
G |
T |
7: 25,010,816 (GRCm39) |
A383S |
probably damaging |
Het |
Tmprss4 |
A |
G |
9: 45,090,718 (GRCm39) |
V187A |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,600,524 (GRCm39) |
M1407L |
probably benign |
Het |
Vps39 |
C |
T |
2: 120,153,609 (GRCm39) |
G655D |
probably benign |
Het |
Wwtr1 |
T |
C |
3: 57,482,241 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
T |
C |
9: 95,930,397 (GRCm39) |
S1535P |
probably damaging |
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 |
IGL02311:Synrg
|
APN |
11 |
83,910,630 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02836:Synrg
|
APN |
11 |
83,892,804 (GRCm39) |
splice site |
probably benign |
|
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 |
2014-05-07 |