Incidental Mutation 'R8811:Synrg'
| ID |
672420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synrg
|
| Ensembl Gene |
ENSMUSG00000034940 |
| Gene Name |
synergin, gamma |
| Synonyms |
Ap1gbp1, L71-5 |
| MMRRC Submission |
068646-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8811 (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 G
at 83910410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 937
(S937A)
|
| 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: S937A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: S937A
| 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 |
|
| Meta Mutation Damage Score |
0.0638 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
G |
17: 24,536,212 (GRCm39) |
K485T |
probably benign |
Het |
| Abcc12 |
G |
T |
8: 87,280,023 (GRCm39) |
L337M |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,010,221 (GRCm39) |
D687G |
probably benign |
Het |
| Aldoc |
T |
A |
11: 78,215,610 (GRCm39) |
I98N |
probably damaging |
Het |
| Aoah |
T |
A |
13: 21,184,121 (GRCm39) |
V395D |
probably damaging |
Het |
| Arap1 |
C |
T |
7: 101,036,403 (GRCm39) |
R397W |
probably damaging |
Het |
| Arl16 |
A |
T |
11: 120,357,526 (GRCm39) |
M63K |
probably damaging |
Het |
| Atf7 |
T |
C |
15: 102,502,144 (GRCm39) |
D4G |
probably damaging |
Het |
| Atp6v0d2 |
A |
T |
4: 19,922,397 (GRCm39) |
V34D |
probably benign |
Het |
| Calhm4 |
T |
A |
10: 33,917,661 (GRCm39) |
K263N |
probably benign |
Het |
| Camk1g |
C |
G |
1: 193,044,408 (GRCm39) |
G2A |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,929,001 (GRCm39) |
T302A |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,253,246 (GRCm39) |
V1246A |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,560,139 (GRCm39) |
D1397G |
|
Het |
| Ddx39b |
T |
A |
17: 35,463,435 (GRCm39) |
S115T |
probably benign |
Het |
| Dnaja3 |
C |
A |
16: 4,514,383 (GRCm39) |
T305K |
probably benign |
Het |
| Dusp7 |
C |
G |
9: 106,248,241 (GRCm39) |
H290D |
probably benign |
Het |
| Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
| Erbin |
C |
T |
13: 104,022,824 (GRCm39) |
R5Q |
probably damaging |
Het |
| Fam3b |
T |
C |
16: 97,313,715 (GRCm39) |
|
probably benign |
Het |
| Foxn3 |
T |
C |
12: 99,162,951 (GRCm39) |
S317G |
probably benign |
Het |
| Gipc1 |
T |
A |
8: 84,388,919 (GRCm39) |
M177K |
possibly damaging |
Het |
| Grpel2 |
A |
C |
18: 61,851,823 (GRCm39) |
|
probably benign |
Het |
| Htr1a |
G |
C |
13: 105,581,101 (GRCm39) |
A114P |
probably damaging |
Het |
| Iqch |
A |
T |
9: 63,452,195 (GRCm39) |
M210K |
possibly damaging |
Het |
| Kdelr3 |
T |
C |
15: 79,410,052 (GRCm39) |
I179T |
possibly damaging |
Het |
| Lat2 |
C |
T |
5: 134,635,553 (GRCm39) |
|
probably benign |
Het |
| Mcrip1 |
A |
G |
11: 120,435,605 (GRCm39) |
V10A |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,755,643 (GRCm39) |
L350F |
probably benign |
Het |
| Nhlrc2 |
T |
A |
19: 56,583,344 (GRCm39) |
V605E |
probably benign |
Het |
| Nup133 |
AAGAGA |
AAGA |
8: 124,638,627 (GRCm39) |
900 |
probably null |
Het |
| Nutm2 |
A |
T |
13: 50,623,989 (GRCm39) |
I229F |
probably benign |
Het |
| Or6f1 |
G |
A |
7: 85,970,989 (GRCm39) |
T57M |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,745,156 (GRCm39) |
V611A |
possibly damaging |
Het |
| Polg2 |
A |
T |
11: 106,670,208 (GRCm39) |
Y21N |
probably benign |
Het |
| Prss28 |
T |
A |
17: 25,528,627 (GRCm39) |
I23N |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 23,030,661 (GRCm39) |
V1856I |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,108,237 (GRCm39) |
I526N |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,180,133 (GRCm39) |
F68S |
probably damaging |
Het |
| Slc37a3 |
A |
G |
6: 39,322,274 (GRCm39) |
S377P |
probably damaging |
Het |
| Smoc2 |
T |
C |
17: 14,545,896 (GRCm39) |
S62P |
probably damaging |
Het |
| Sox4 |
A |
G |
13: 29,136,911 (GRCm39) |
S32P |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,689,541 (GRCm39) |
Q426L |
|
Het |
| Tbr1 |
C |
A |
2: 61,642,196 (GRCm39) |
T487K |
possibly damaging |
Het |
| Tll2 |
T |
C |
19: 41,195,012 (GRCm39) |
T25A |
probably benign |
Het |
| Trim31 |
T |
C |
17: 37,210,875 (GRCm39) |
F169S |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
| Tspear |
T |
C |
10: 77,665,463 (GRCm39) |
F83S |
probably benign |
Het |
| Ubr5 |
C |
A |
15: 38,041,123 (GRCm39) |
A254S |
|
Het |
| Ubtfl1 |
A |
G |
9: 18,321,459 (GRCm39) |
E329G |
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,474,881 (GRCm39) |
W716R |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,799,895 (GRCm39) |
M448V |
probably damaging |
Het |
| Wwc2 |
T |
G |
8: 48,336,579 (GRCm39) |
I228L |
possibly damaging |
Het |
| Zbtb20 |
T |
C |
16: 43,430,857 (GRCm39) |
V383A |
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 |
|
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 |
|
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'- GATACAGAGGACTTAAGCTGTGC -3'
(R):5'- ACATGAGGTTTCTTGGCTGC -3'
Sequencing Primer
(F):5'- GTAGCCATTTTACAGTGAGCACAC -3'
(R):5'- TCTTGGCTGCGGTCCAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation