Incidental Mutation 'R7489:Synrg'
| ID |
580429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synrg
|
| Ensembl Gene |
ENSMUSG00000034940 |
| Gene Name |
synergin, gamma |
| Synonyms |
Ap1gbp1, L71-5 |
| MMRRC Submission |
045563-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7489 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83881651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 329
(T329I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049714]
[ENSMUST00000092834]
[ENSMUST00000183456]
[ENSMUST00000183714]
|
| AlphaFold |
Q5SV85 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049714
AA Change: T408I
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: T408I
| 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: T329I
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: T329I
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000117709
Gene: ENSMUSG00000034940
AA Change: T240I
| 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 |
probably benign
Transcript: ENSMUST00000183456
AA Change: T508I
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: T508I
| 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 |
possibly damaging
Transcript: ENSMUST00000183714
AA Change: T407I
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: T407I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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 |
|---|
| 2310079G19Rik |
A |
T |
16: 88,424,122 (GRCm39) |
V123D |
probably damaging |
Het |
| 4930503E14Rik |
A |
T |
14: 44,407,756 (GRCm39) |
N92K |
probably damaging |
Het |
| 4930519G04Rik |
T |
C |
5: 115,017,686 (GRCm39) |
S166P |
unknown |
Het |
| Abtb3 |
T |
A |
10: 85,463,079 (GRCm39) |
Y615N |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,586,586 (GRCm39) |
T369I |
probably damaging |
Het |
| Agbl4 |
T |
C |
4: 111,383,855 (GRCm39) |
S237P |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,839,649 (GRCm39) |
C187R |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,054,933 (GRCm39) |
T1626M |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,118,833 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
G |
T |
7: 105,216,687 (GRCm39) |
T301N |
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,006,359 (GRCm39) |
V679A |
probably benign |
Het |
| Atp2a2 |
T |
C |
5: 122,605,830 (GRCm39) |
D375G |
probably benign |
Het |
| Best1 |
A |
G |
19: 9,974,410 (GRCm39) |
S45P |
possibly damaging |
Het |
| Bpifb4 |
A |
C |
2: 153,785,924 (GRCm39) |
T21P |
probably damaging |
Het |
| Cdx2 |
A |
T |
5: 147,243,482 (GRCm39) |
M104K |
probably benign |
Het |
| Ces1d |
A |
T |
8: 93,904,759 (GRCm39) |
L327Q |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,412 (GRCm39) |
H214R |
probably benign |
Het |
| Chd5 |
G |
A |
4: 152,457,925 (GRCm39) |
G1014D |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,228,346 (GRCm39) |
K2247N |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,583,348 (GRCm39) |
V110A |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,541,265 (GRCm39) |
S724P |
probably benign |
Het |
| Galnt1 |
T |
A |
18: 24,415,214 (GRCm39) |
V485D |
probably damaging |
Het |
| Garin3 |
G |
C |
11: 46,298,268 (GRCm39) |
G524A |
|
Het |
| Gli2 |
A |
G |
1: 118,765,905 (GRCm39) |
S749P |
probably benign |
Het |
| H2-M5 |
A |
C |
17: 37,300,363 (GRCm39) |
L12V |
unknown |
Het |
| Iqcf6 |
C |
A |
9: 106,504,656 (GRCm39) |
Q107K |
probably benign |
Het |
| Itfg1 |
C |
T |
8: 86,493,630 (GRCm39) |
C283Y |
probably damaging |
Het |
| Jak3 |
A |
C |
8: 72,136,936 (GRCm39) |
K704T |
probably damaging |
Het |
| Kl |
A |
T |
5: 150,876,461 (GRCm39) |
T94S |
probably damaging |
Het |
| Krt73 |
A |
C |
15: 101,702,294 (GRCm39) |
V523G |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,657,848 (GRCm39) |
F215L |
probably damaging |
Het |
| Lce1c |
G |
A |
3: 92,587,954 (GRCm39) |
C127Y |
unknown |
Het |
| Map6 |
C |
T |
7: 98,917,268 (GRCm39) |
R14C |
probably damaging |
Het |
| Mcm10 |
T |
A |
2: 5,006,112 (GRCm39) |
K410M |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,780,254 (GRCm39) |
N967K |
probably damaging |
Het |
| Mmp8 |
A |
T |
9: 7,561,388 (GRCm39) |
T131S |
probably benign |
Het |
| Ms4a14 |
T |
C |
19: 11,279,395 (GRCm39) |
I1054M |
probably benign |
Het |
| Mup14 |
A |
G |
4: 61,259,887 (GRCm39) |
M1T |
probably null |
Het |
| Myzap |
T |
A |
9: 71,468,320 (GRCm39) |
T110S |
probably benign |
Het |
| Nmrk1 |
A |
T |
19: 18,619,606 (GRCm39) |
K153M |
probably damaging |
Het |
| Nmrk1 |
G |
T |
19: 18,619,607 (GRCm39) |
K153N |
possibly damaging |
Het |
| Or4x12-ps1 |
T |
A |
2: 89,916,704 (GRCm39) |
M34L |
probably benign |
Het |
| Or6c70 |
A |
T |
10: 129,710,551 (GRCm39) |
I25N |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,414,842 (GRCm39) |
H761R |
possibly damaging |
Het |
| Pde4d |
C |
A |
13: 109,253,301 (GRCm39) |
L43I |
unknown |
Het |
| Prrc2a |
A |
T |
17: 35,381,330 (GRCm39) |
S46R |
unknown |
Het |
| Rab19 |
A |
G |
6: 39,365,039 (GRCm39) |
T100A |
probably benign |
Het |
| Rad51b |
C |
T |
12: 79,347,359 (GRCm39) |
R8* |
probably null |
Het |
| Sclt1 |
A |
T |
3: 41,584,032 (GRCm39) |
L642Q |
probably damaging |
Het |
| Scyl3 |
T |
C |
1: 163,776,745 (GRCm39) |
I392T |
possibly damaging |
Het |
| Sipa1l3 |
A |
G |
7: 29,066,127 (GRCm39) |
W1076R |
probably damaging |
Het |
| Slc12a9 |
C |
A |
5: 137,321,082 (GRCm39) |
A478S |
probably damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,741,113 (GRCm39) |
C511F |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,450,647 (GRCm39) |
L2612P |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,034,071 (GRCm39) |
T1338A |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,486,521 (GRCm39) |
D996V |
possibly damaging |
Het |
| Ticam2 |
T |
A |
18: 46,693,584 (GRCm39) |
I168L |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,547,185 (GRCm39) |
I374M |
probably benign |
Het |
| Trip10 |
A |
T |
17: 57,557,966 (GRCm39) |
K51I |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,656,545 (GRCm39) |
D735E |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,307,481 (GRCm39) |
N1050K |
possibly damaging |
Het |
| Tuba8 |
A |
T |
6: 121,202,980 (GRCm39) |
D431V |
probably damaging |
Het |
| Ucn2 |
C |
T |
9: 108,815,322 (GRCm39) |
T28I |
possibly damaging |
Het |
| Vmn1r21 |
C |
T |
6: 57,820,877 (GRCm39) |
G189D |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,945,522 (GRCm39) |
N695S |
possibly damaging |
Het |
| Xirp2 |
A |
C |
2: 67,355,904 (GRCm39) |
N3555T |
possibly damaging |
Het |
| Zfp119a |
A |
T |
17: 56,173,158 (GRCm39) |
H228Q |
probably damaging |
Het |
| Zfr |
T |
A |
15: 12,153,068 (GRCm39) |
H566Q |
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 |
|
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 |
|
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'- GAAAGGCTTCCTGAAGGTCTC -3'
(R):5'- AAGGAAAGTTGCCCACATGC -3'
Sequencing Primer
(F):5'- AAGGTCTCTCTTGCACAGATG -3'
(R):5'- CACATGCACTTTCTGGAATGATCTGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation