Incidental Mutation 'R7794:Synrg'
| ID |
600135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synrg
|
| Ensembl Gene |
ENSMUSG00000034940 |
| Gene Name |
synergin, gamma |
| Synonyms |
Ap1gbp1, L71-5 |
| MMRRC Submission |
045850-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7794 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83910400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 933
(M933I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049714]
[ENSMUST00000092834]
[ENSMUST00000183456]
[ENSMUST00000183714]
|
| AlphaFold |
Q5SV85 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049714
AA Change: M933I
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: M933I
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (60/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,117,022 (GRCm39) |
M542K |
possibly damaging |
Het |
| Abcc3 |
T |
A |
11: 94,249,697 (GRCm39) |
I1083F |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,137,352 (GRCm39) |
|
probably benign |
Het |
| Acyp1 |
G |
T |
12: 85,335,053 (GRCm39) |
A22E |
probably benign |
Het |
| Afdn |
C |
A |
17: 14,102,695 (GRCm39) |
A1090E |
probably damaging |
Het |
| Ahdc1 |
T |
G |
4: 132,791,289 (GRCm39) |
D843E |
possibly damaging |
Het |
| Bahcc1 |
G |
T |
11: 120,163,507 (GRCm39) |
E602* |
probably null |
Het |
| Bora |
A |
G |
14: 99,310,080 (GRCm39) |
T470A |
possibly damaging |
Het |
| Bzw1 |
T |
A |
1: 58,439,959 (GRCm39) |
S166T |
probably benign |
Het |
| Car13 |
A |
G |
3: 14,719,948 (GRCm39) |
H120R |
probably damaging |
Het |
| Cstf3 |
G |
A |
2: 104,420,926 (GRCm39) |
⇒1 |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,112,459 (GRCm39) |
N1080D |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,336,233 (GRCm39) |
L91P |
probably benign |
Het |
| E2f6 |
A |
G |
12: 16,870,370 (GRCm39) |
D174G |
possibly damaging |
Het |
| Emsy |
A |
T |
7: 98,249,931 (GRCm39) |
S785R |
probably benign |
Het |
| Fbxl17 |
A |
G |
17: 63,663,806 (GRCm39) |
I561T |
probably damaging |
Het |
| Gabra6 |
A |
T |
11: 42,211,868 (GRCm39) |
|
probably null |
Het |
| Gm47996 |
C |
G |
1: 151,086,545 (GRCm39) |
P209A |
possibly damaging |
Het |
| Hcls1 |
A |
G |
16: 36,782,426 (GRCm39) |
E365G |
probably damaging |
Het |
| Hoxa6 |
T |
A |
6: 52,183,548 (GRCm39) |
T166S |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,235,715 (GRCm39) |
Y1900C |
probably damaging |
Het |
| I0C0044D17Rik |
T |
C |
4: 98,708,582 (GRCm39) |
|
probably benign |
Het |
| Ifitm7 |
T |
C |
16: 13,801,610 (GRCm39) |
T50A |
probably benign |
Het |
| Igkv10-95 |
A |
G |
6: 68,657,811 (GRCm39) |
Q109R |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,541,658 (GRCm39) |
H633L |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Kmt2e |
G |
A |
5: 23,669,714 (GRCm39) |
G67D |
probably damaging |
Het |
| Kpna6 |
T |
C |
4: 129,541,844 (GRCm39) |
T518A |
probably benign |
Het |
| Marchf11 |
A |
G |
15: 26,409,284 (GRCm39) |
I328V |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,265,623 (GRCm39) |
I308T |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,833,247 (GRCm39) |
D284V |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,619,913 (GRCm39) |
K1488R |
unknown |
Het |
| Myom2 |
G |
A |
8: 15,133,259 (GRCm39) |
G384R |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,614,934 (GRCm39) |
Y189H |
probably damaging |
Het |
| Nav3 |
G |
A |
10: 109,524,717 (GRCm39) |
A2304V |
probably benign |
Het |
| Or12e10 |
T |
A |
2: 87,640,818 (GRCm39) |
V218E |
probably damaging |
Het |
| Or14c46 |
T |
A |
7: 85,918,341 (GRCm39) |
I219L |
probably damaging |
Het |
| Or14j5 |
A |
T |
17: 38,161,678 (GRCm39) |
Q65L |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,738,782 (GRCm39) |
Y160N |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,152,396 (GRCm39) |
|
probably null |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,485 (GRCm39) |
R4G |
probably benign |
Het |
| Poc1b |
A |
G |
10: 98,965,460 (GRCm39) |
S130G |
possibly damaging |
Het |
| Psme2b |
A |
G |
11: 48,836,683 (GRCm39) |
V88A |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,640,090 (GRCm39) |
T183M |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,653,767 (GRCm39) |
E275G |
probably damaging |
Het |
| Rab21 |
A |
T |
10: 115,134,762 (GRCm39) |
L119* |
probably null |
Het |
| Rep15 |
T |
A |
6: 146,934,638 (GRCm39) |
I159N |
probably damaging |
Het |
| Rps6kc1 |
T |
C |
1: 190,515,825 (GRCm39) |
E967G |
probably benign |
Het |
| Rptn |
G |
A |
3: 93,303,036 (GRCm39) |
R123K |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,594,580 (GRCm39) |
V1271D |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,358,153 (GRCm39) |
I696N |
probably damaging |
Het |
| Slc25a12 |
T |
C |
2: 71,141,852 (GRCm39) |
E267G |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,898,133 (GRCm39) |
M527K |
probably benign |
Het |
| Spata31e4 |
C |
G |
13: 50,856,344 (GRCm39) |
P661A |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,365,514 (GRCm39) |
S632T |
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Tmem178b |
A |
T |
6: 40,222,551 (GRCm39) |
I89F |
probably damaging |
Het |
| Tyr |
C |
T |
7: 87,133,028 (GRCm39) |
|
probably null |
Het |
| Usp30 |
T |
A |
5: 114,251,033 (GRCm39) |
C237* |
probably null |
Het |
| Xpo6 |
G |
T |
7: 125,760,035 (GRCm39) |
T188K |
probably damaging |
Het |
| Zfp382 |
G |
A |
7: 29,831,035 (GRCm39) |
S108N |
possibly damaging |
Het |
| Zfp820 |
A |
C |
17: 22,039,109 (GRCm39) |
V73G |
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 |
|
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 |
|
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'- TACAGAGGACTTAAGCTGTGCTG -3'
(R):5'- ACATGAGGTTTCTTGGCTGC -3'
Sequencing Primer
(F):5'- AGCTGTGCTGCTTTTGGAAG -3'
(R):5'- TCTTGGCTGCGGTCCAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation