Incidental Mutation 'R6751:Synrg'
| ID |
530793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synrg
|
| Ensembl Gene |
ENSMUSG00000034940 |
| Gene Name |
synergin, gamma |
| Synonyms |
Ap1gbp1, L71-5 |
| MMRRC Submission |
044868-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6751 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83872251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 125
(F125S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049714]
[ENSMUST00000092834]
[ENSMUST00000183456]
[ENSMUST00000183714]
|
| AlphaFold |
Q5SV85 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049714
AA Change: F125S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: F125S
| 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 damaging
Transcript: ENSMUST00000092834
AA Change: F124S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: F124S
| 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 damaging
Transcript: ENSMUST00000183456
AA Change: F124S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: F124S
| 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 damaging
Transcript: ENSMUST00000183714
AA Change: F124S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: F124S
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
95% (59/62) |
| 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 |
|---|
| 1110002E22Rik |
A |
T |
3: 137,771,971 (GRCm39) |
N387Y |
probably damaging |
Het |
| Abhd17a |
T |
C |
10: 80,422,421 (GRCm39) |
E87G |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,188,330 (GRCm39) |
|
probably null |
Het |
| Adcy6 |
T |
C |
15: 98,494,086 (GRCm39) |
N817S |
probably benign |
Het |
| Ak8 |
T |
A |
2: 28,599,957 (GRCm39) |
L63* |
probably null |
Het |
| Arhgef28 |
G |
A |
13: 98,211,755 (GRCm39) |
S76L |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 63,966,261 (GRCm39) |
L891S |
possibly damaging |
Het |
| Cacng5 |
C |
A |
11: 107,768,379 (GRCm39) |
M209I |
probably benign |
Het |
| Casr |
T |
C |
16: 36,335,950 (GRCm39) |
I120V |
probably benign |
Het |
| Ccnq |
T |
C |
11: 78,641,950 (GRCm39) |
Y180C |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,833,866 (GRCm39) |
Y1207H |
probably damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,883 (GRCm39) |
F144Y |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,391 (GRCm39) |
H362L |
probably damaging |
Het |
| Dnaaf4 |
A |
G |
9: 72,869,257 (GRCm39) |
T156A |
probably benign |
Het |
| Dym |
G |
A |
18: 75,419,718 (GRCm39) |
V630M |
probably damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,177,076 (GRCm39) |
V842E |
possibly damaging |
Het |
| Dyrk1b |
C |
A |
7: 27,886,134 (GRCm39) |
P619Q |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,831,659 (GRCm39) |
D433G |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,561,086 (GRCm39) |
S1140R |
probably damaging |
Het |
| Gabra5 |
T |
C |
7: 57,068,082 (GRCm39) |
R255G |
probably damaging |
Het |
| Galnt17 |
T |
A |
5: 131,110,428 (GRCm39) |
I304F |
probably damaging |
Het |
| Gpc5 |
A |
G |
14: 115,607,363 (GRCm39) |
S322G |
probably benign |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,610,269 (GRCm39) |
N1467Y |
probably damaging |
Het |
| Ifna6 |
T |
C |
4: 88,745,987 (GRCm39) |
L112P |
probably damaging |
Het |
| Ifrd1 |
C |
T |
12: 40,253,913 (GRCm39) |
|
probably null |
Het |
| Il17f |
A |
G |
1: 20,849,713 (GRCm39) |
M17T |
probably benign |
Het |
| Itga11 |
G |
A |
9: 62,675,866 (GRCm39) |
V892I |
probably benign |
Het |
| Nckap5l |
A |
G |
15: 99,321,042 (GRCm39) |
L1246P |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,243 (GRCm39) |
H467Q |
probably damaging |
Het |
| Ntng2 |
A |
G |
2: 29,118,055 (GRCm39) |
V131A |
possibly damaging |
Het |
| Or51r1 |
G |
A |
7: 102,227,706 (GRCm39) |
M1I |
probably null |
Het |
| Or8b40 |
T |
G |
9: 38,027,271 (GRCm39) |
Y60D |
probably damaging |
Het |
| Or8g37 |
T |
A |
9: 39,731,193 (GRCm39) |
V86E |
probably benign |
Het |
| Or8g55 |
T |
C |
9: 39,784,976 (GRCm39) |
V135A |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,110,874 (GRCm39) |
Y459H |
possibly damaging |
Het |
| Pabpc1 |
A |
T |
15: 36,597,778 (GRCm39) |
V537D |
possibly damaging |
Het |
| Pde4b |
A |
T |
4: 102,459,868 (GRCm39) |
M583L |
probably damaging |
Het |
| Phlda1 |
T |
C |
10: 111,342,555 (GRCm39) |
V97A |
possibly damaging |
Het |
| Pik3cb |
G |
T |
9: 98,976,574 (GRCm39) |
H174Q |
probably benign |
Het |
| Plxdc2 |
A |
T |
2: 16,552,952 (GRCm39) |
I117F |
probably benign |
Het |
| Psapl1 |
C |
A |
5: 36,362,303 (GRCm39) |
C298* |
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Rtkn2 |
T |
A |
10: 67,877,283 (GRCm39) |
F448I |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,500,617 (GRCm39) |
R221G |
probably damaging |
Het |
| Serpina3c |
A |
G |
12: 104,117,759 (GRCm39) |
L193P |
probably damaging |
Het |
| Sox12 |
T |
C |
2: 152,238,678 (GRCm39) |
Y314C |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,119,331 (GRCm39) |
S4560P |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,067,859 (GRCm39) |
E1772G |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,099,775 (GRCm39) |
V1570A |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,494,919 (GRCm39) |
I1116F |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tfap2d |
C |
A |
1: 19,173,507 (GRCm39) |
H10N |
possibly damaging |
Het |
| Trpm8 |
T |
C |
1: 88,312,428 (GRCm39) |
I1103T |
possibly damaging |
Het |
| Vmn1r158 |
C |
T |
7: 22,489,306 (GRCm39) |
C301Y |
probably damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,428,719 (GRCm39) |
I516V |
probably benign |
Het |
| Vmn2r71 |
G |
A |
7: 85,269,095 (GRCm39) |
|
probably null |
Het |
| Vnn3 |
C |
T |
10: 23,745,523 (GRCm39) |
R491C |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,600,274 (GRCm39) |
Y911C |
probably damaging |
Het |
| Zfp772 |
C |
T |
7: 7,206,716 (GRCm39) |
R325Q |
possibly damaging |
Het |
| Zranb3 |
T |
A |
1: 127,887,556 (GRCm39) |
H957L |
probably benign |
Het |
| Zscan20 |
G |
T |
4: 128,479,668 (GRCm39) |
T941K |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,373 (GRCm39) |
F346I |
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 |
|
|
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 |
|
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'- GATGTATGGCATGCAGAGGC -3'
(R):5'- AATCATCACGGCACTTGGG -3'
Sequencing Primer
(F):5'- GAGGCCCCATACCCAGTTC -3'
(R):5'- ACGGCACTTGGGCTGGTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation