Incidental Mutation 'R0548:Synrg'
| ID |
44985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synrg
|
| Ensembl Gene |
ENSMUSG00000034940 |
| Gene Name |
synergin, gamma |
| Synonyms |
Ap1gbp1, L71-5 |
| MMRRC Submission |
038740-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0548 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 83873014 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: ENSMUST00000138676
|
| SMART Domains |
Protein: ENSMUSP00000117709
Gene: ENSMUSG00000034940
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
|
Blast:EH
|
134 |
201 |
3e-7 |
BLAST |
|
SCOP:d1fi6a_
|
147 |
208 |
7e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148901
|
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
97% (62/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
G |
8: 41,279,504 (GRCm39) |
C632G |
probably damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,178,191 (GRCm39) |
|
probably null |
Het |
| Agfg1 |
A |
G |
1: 82,864,152 (GRCm39) |
T447A |
probably damaging |
Het |
| Ankrd37 |
C |
T |
8: 46,451,433 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,056,282 (GRCm39) |
D1555V |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,654,849 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,468,400 (GRCm39) |
D2242E |
probably damaging |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,267,379 (GRCm39) |
|
probably null |
Het |
| Cox10 |
A |
T |
11: 63,867,178 (GRCm39) |
Y273N |
probably damaging |
Het |
| Dcbld2 |
A |
T |
16: 58,275,508 (GRCm39) |
D408V |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,650,964 (GRCm39) |
E824D |
probably damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,409 (GRCm39) |
Y461H |
probably damaging |
Het |
| Fam72a |
T |
A |
1: 131,461,599 (GRCm39) |
S95T |
probably damaging |
Het |
| Fiz1 |
A |
T |
7: 5,012,167 (GRCm39) |
V117D |
possibly damaging |
Het |
| Gm10355 |
C |
T |
3: 101,214,376 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11595 |
A |
T |
11: 99,662,967 (GRCm39) |
C238S |
unknown |
Het |
| Gm7589 |
T |
G |
9: 59,053,439 (GRCm39) |
|
noncoding transcript |
Het |
| H6pd |
A |
T |
4: 150,066,073 (GRCm39) |
V771E |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,028,090 (GRCm39) |
L1782P |
probably damaging |
Het |
| Il33 |
T |
C |
19: 29,932,047 (GRCm39) |
S147P |
probably benign |
Het |
| Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,367,982 (GRCm39) |
|
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,568,191 (GRCm39) |
K1510R |
unknown |
Het |
| Marco |
T |
C |
1: 120,419,767 (GRCm39) |
T187A |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,298,637 (GRCm39) |
N2132K |
possibly damaging |
Het |
| Mki67 |
T |
A |
7: 135,296,985 (GRCm39) |
K2683M |
probably damaging |
Het |
| Mmp15 |
T |
C |
8: 96,098,979 (GRCm39) |
V602A |
probably damaging |
Het |
| Mphosph10 |
T |
A |
7: 64,028,548 (GRCm39) |
M536L |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| N4bp2 |
G |
T |
5: 65,965,496 (GRCm39) |
V1182L |
probably benign |
Het |
| Nlrc5 |
C |
A |
8: 95,248,411 (GRCm39) |
F1715L |
probably null |
Het |
| Nsd2 |
T |
A |
5: 34,050,882 (GRCm39) |
V1253E |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,121 (GRCm39) |
I43K |
probably benign |
Het |
| Or4c120 |
C |
A |
2: 89,000,992 (GRCm39) |
C188F |
probably damaging |
Het |
| Or8g18 |
A |
T |
9: 39,149,667 (GRCm39) |
S18T |
probably benign |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,125,582 (GRCm39) |
N4K |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,134,950 (GRCm39) |
I1751N |
probably damaging |
Het |
| Postn |
C |
A |
3: 54,274,997 (GRCm39) |
S122* |
probably null |
Het |
| Ppp4r4 |
A |
T |
12: 103,579,074 (GRCm39) |
R762* |
probably null |
Het |
| Rrm1 |
G |
T |
7: 102,116,274 (GRCm39) |
|
probably null |
Het |
| Rrp15 |
A |
G |
1: 186,468,431 (GRCm39) |
V195A |
probably benign |
Het |
| Rtl1 |
T |
A |
12: 109,558,089 (GRCm39) |
D1250V |
probably damaging |
Het |
| Rxrg |
T |
C |
1: 167,458,788 (GRCm39) |
|
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,494,994 (GRCm39) |
K416E |
probably benign |
Het |
| Serping1 |
T |
C |
2: 84,600,425 (GRCm39) |
|
probably benign |
Het |
| Slc12a6 |
T |
C |
2: 112,166,269 (GRCm39) |
|
probably null |
Het |
| Smo |
A |
T |
6: 29,759,585 (GRCm39) |
Q639L |
possibly damaging |
Het |
| Tars2 |
T |
C |
3: 95,649,971 (GRCm39) |
D470G |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,542,709 (GRCm39) |
N1399S |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,877,119 (GRCm39) |
V240A |
probably damaging |
Het |
| Tmem232 |
G |
A |
17: 65,689,615 (GRCm39) |
T500I |
probably benign |
Het |
| Toporsl |
G |
A |
4: 52,612,140 (GRCm39) |
V678M |
possibly damaging |
Het |
| Vmn1r7 |
A |
T |
6: 57,002,066 (GRCm39) |
F65I |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,764,578 (GRCm39) |
M2257I |
probably benign |
Het |
| Wdr20rt |
T |
A |
12: 65,274,089 (GRCm39) |
D344E |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,758 (GRCm39) |
A2333V |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,631,452 (GRCm39) |
K1381R |
probably benign |
Het |
| Zscan18 |
G |
T |
7: 12,508,103 (GRCm39) |
P466T |
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 |
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACGGTTTGCCTGAGTCCTAAAG -3'
(R):5'- TTCCAAGGAAAGAACACGTCCTGTC -3'
Sequencing Primer
(F):5'- ccagaaagtcaaaggcaagag -3'
(R):5'- CTCTGGAAAACCCATCCAAGT -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation