Incidental Mutation 'R6944:Synrg'
ID |
540792 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synrg
|
Ensembl Gene |
ENSMUSG00000034940 |
Gene Name |
synergin, gamma |
Synonyms |
Ap1gbp1, L71-5 |
MMRRC Submission |
045058-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6944 (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 A
at 83915912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 1085
(L1085H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049714]
[ENSMUST00000092834]
[ENSMUST00000183456]
[ENSMUST00000183714]
|
AlphaFold |
Q5SV85 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049714
AA Change: L1163H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059000 Gene: ENSMUSG00000034940 AA Change: L1163H
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: L1007H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090510 Gene: ENSMUSG00000034940 AA Change: L1007H
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 damaging
Transcript: ENSMUST00000183456
AA Change: L1186H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138969 Gene: ENSMUSG00000034940 AA Change: L1186H
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: L1085H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139103 Gene: ENSMUSG00000034940 AA Change: L1085H
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 |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
97% (75/77) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
G |
5: 8,863,693 (GRCm39) |
V216G |
probably damaging |
Het |
Abcb5 |
T |
C |
12: 118,875,265 (GRCm39) |
R636G |
probably benign |
Het |
Ago1 |
G |
T |
4: 126,354,215 (GRCm39) |
F198L |
possibly damaging |
Het |
Ankrd42 |
C |
T |
7: 92,268,755 (GRCm39) |
|
probably null |
Het |
Anxa11 |
T |
A |
14: 25,875,176 (GRCm39) |
F274I |
probably damaging |
Het |
Ascc1 |
T |
C |
10: 59,849,475 (GRCm39) |
L122P |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,971,649 (GRCm39) |
S953G |
probably damaging |
Het |
Chml |
T |
A |
1: 175,515,727 (GRCm39) |
N65Y |
probably damaging |
Het |
Clcc1 |
A |
G |
3: 108,578,284 (GRCm39) |
K262E |
probably damaging |
Het |
Clhc1 |
T |
G |
11: 29,519,346 (GRCm39) |
D384E |
probably damaging |
Het |
Cnot2 |
G |
A |
10: 116,373,128 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
T |
C |
11: 101,073,730 (GRCm39) |
V627A |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,949,370 (GRCm39) |
V755A |
probably damaging |
Het |
Cyp4f18 |
T |
A |
8: 72,743,738 (GRCm39) |
I406F |
probably benign |
Het |
Dclre1a |
T |
C |
19: 56,533,451 (GRCm39) |
E381G |
possibly damaging |
Het |
Dnah1 |
A |
G |
14: 30,990,861 (GRCm39) |
Y3153H |
probably damaging |
Het |
Dnah8 |
C |
A |
17: 31,013,633 (GRCm39) |
D3791E |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,975,975 (GRCm39) |
E1358G |
possibly damaging |
Het |
Eef1g |
G |
A |
19: 8,945,656 (GRCm39) |
R30H |
probably benign |
Het |
Egln3 |
A |
T |
12: 54,230,738 (GRCm39) |
I181N |
probably benign |
Het |
Entpd6 |
A |
G |
2: 150,605,519 (GRCm39) |
T250A |
probably damaging |
Het |
Epb41l5 |
C |
T |
1: 119,536,859 (GRCm39) |
R344Q |
probably damaging |
Het |
Fam20b |
T |
C |
1: 156,515,091 (GRCm39) |
D258G |
probably benign |
Het |
Fbxw18 |
A |
T |
9: 109,531,655 (GRCm39) |
D21E |
probably damaging |
Het |
Fbxw21 |
T |
C |
9: 108,986,603 (GRCm39) |
E92G |
probably damaging |
Het |
Fzd6 |
T |
A |
15: 38,889,212 (GRCm39) |
M110K |
possibly damaging |
Het |
Golgb1 |
C |
T |
16: 36,732,475 (GRCm39) |
P574L |
probably benign |
Het |
Gpr153 |
A |
G |
4: 152,363,820 (GRCm39) |
E80G |
probably damaging |
Het |
Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
Kcnt1 |
T |
C |
2: 25,767,840 (GRCm39) |
|
probably benign |
Het |
Kcnt2 |
T |
G |
1: 140,511,803 (GRCm39) |
V962G |
probably benign |
Het |
Malt1 |
T |
C |
18: 65,570,991 (GRCm39) |
V109A |
probably benign |
Het |
Marchf7 |
A |
G |
2: 60,064,587 (GRCm39) |
I288V |
probably benign |
Het |
Mief1 |
C |
T |
15: 80,133,644 (GRCm39) |
R234C |
probably damaging |
Het |
Morc3 |
A |
G |
16: 93,667,460 (GRCm39) |
S613G |
probably benign |
Het |
Myt1 |
A |
G |
2: 181,439,387 (GRCm39) |
E345G |
possibly damaging |
Het |
Napb |
T |
C |
2: 148,548,889 (GRCm39) |
T133A |
probably benign |
Het |
Nwd1 |
T |
C |
8: 73,380,162 (GRCm39) |
V16A |
possibly damaging |
Het |
Oas1f |
G |
A |
5: 120,986,247 (GRCm39) |
E67K |
probably benign |
Het |
Obscn |
T |
C |
11: 58,929,756 (GRCm39) |
K5153R |
probably damaging |
Het |
Or2w3b |
T |
A |
11: 58,623,068 (GRCm39) |
S308C |
possibly damaging |
Het |
Or5a3 |
G |
T |
19: 12,400,628 (GRCm39) |
M318I |
probably benign |
Het |
Or5g26 |
C |
T |
2: 85,494,195 (GRCm39) |
M194I |
probably benign |
Het |
Or6d12 |
T |
C |
6: 116,492,791 (GRCm39) |
F18L |
possibly damaging |
Het |
Pdcd2 |
T |
C |
17: 15,745,632 (GRCm39) |
N185S |
possibly damaging |
Het |
Pgap1 |
A |
T |
1: 54,569,320 (GRCm39) |
W349R |
probably damaging |
Het |
Prpf39 |
T |
A |
12: 65,089,454 (GRCm39) |
V64E |
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,624,857 (GRCm39) |
W54R |
probably null |
Het |
Rbms3 |
G |
T |
9: 116,939,173 (GRCm39) |
P29Q |
probably damaging |
Het |
Rnf123 |
A |
G |
9: 107,940,822 (GRCm39) |
L679P |
probably benign |
Het |
Samd4 |
T |
A |
14: 47,254,092 (GRCm39) |
D84E |
possibly damaging |
Het |
Scarf1 |
T |
C |
11: 75,413,032 (GRCm39) |
V426A |
probably benign |
Het |
Slc12a1 |
A |
G |
2: 125,002,454 (GRCm39) |
N145D |
probably damaging |
Het |
Slc2a6 |
A |
T |
2: 26,916,076 (GRCm39) |
M99K |
probably damaging |
Het |
Slc34a2 |
A |
T |
5: 53,222,225 (GRCm39) |
I306L |
probably benign |
Het |
Slx4ip |
A |
G |
2: 136,910,195 (GRCm39) |
K397E |
probably damaging |
Het |
Smr3a |
C |
T |
5: 88,155,949 (GRCm39) |
|
probably benign |
Het |
Spata31h1 |
A |
C |
10: 82,132,056 (GRCm39) |
I318R |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,592,835 (GRCm39) |
E1502G |
probably damaging |
Het |
Sri |
A |
T |
5: 8,113,365 (GRCm39) |
T119S |
probably benign |
Het |
Taf7 |
A |
T |
18: 37,775,910 (GRCm39) |
L219H |
probably damaging |
Het |
Tmco3 |
T |
A |
8: 13,353,729 (GRCm39) |
V347E |
probably damaging |
Het |
Tmem8b |
A |
T |
4: 43,674,465 (GRCm39) |
I250F |
probably damaging |
Het |
Tom1l2 |
A |
G |
11: 60,139,817 (GRCm39) |
V239A |
probably damaging |
Het |
Trpm1 |
T |
A |
7: 63,893,181 (GRCm39) |
M1011K |
probably damaging |
Het |
Tspan9 |
A |
T |
6: 127,942,769 (GRCm39) |
Y153N |
probably benign |
Het |
Ttll11 |
T |
C |
2: 35,642,306 (GRCm39) |
H675R |
probably benign |
Het |
Unc50 |
C |
T |
1: 37,471,743 (GRCm39) |
T131M |
probably damaging |
Het |
Vgf |
T |
A |
5: 137,061,206 (GRCm39) |
I456N |
probably damaging |
Het |
Vmn1r223 |
A |
G |
13: 23,433,483 (GRCm39) |
I26V |
unknown |
Het |
Vmn1r39 |
T |
C |
6: 66,782,205 (GRCm39) |
M1V |
probably null |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,363,925 (GRCm39) |
T664A |
probably benign |
Het |
Vmn2r14 |
G |
A |
5: 109,364,140 (GRCm39) |
T592I |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,817,891 (GRCm39) |
F489L |
probably benign |
Het |
Vmn2r-ps158 |
T |
C |
7: 42,697,393 (GRCm39) |
F817L |
possibly 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 |
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'- AAAGTCTTAGGCTTGTCTCTGCATG -3'
(R):5'- CAAGTAAGGTAGCTGCTACTGC -3'
Sequencing Primer
(F):5'- ACGTGCACACACTGGCTG -3'
(R):5'- AAGGTAGCTGCTACTGCTGTGAC -3'
|
Posted On |
2018-11-28 |