Incidental Mutation 'R8926:Synrg'
| ID |
679559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synrg
|
| Ensembl Gene |
ENSMUSG00000034940 |
| Gene Name |
synergin, gamma |
| Synonyms |
Ap1gbp1, L71-5 |
| MMRRC Submission |
068770-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8926 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83881567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 301
(A301E)
|
| 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: A380E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: A380E
| 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 |
possibly damaging
Transcript: ENSMUST00000092834
AA Change: A301E
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: A301E
| 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: A212E
| 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 |
possibly damaging
Transcript: ENSMUST00000183456
AA Change: A480E
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: A480E
| 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: A379E
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: A379E
| 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: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (69/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
A |
5: 30,405,446 (GRCm39) |
D296V |
possibly damaging |
Het |
| Ahi1 |
T |
C |
10: 20,930,982 (GRCm39) |
Y941H |
probably damaging |
Het |
| Bscl2 |
T |
C |
19: 8,825,348 (GRCm39) |
|
probably null |
Het |
| C1s1 |
C |
T |
6: 124,510,325 (GRCm39) |
G374D |
probably damaging |
Het |
| C1s1 |
T |
C |
6: 124,513,322 (GRCm39) |
D235G |
possibly damaging |
Het |
| Cacna1e |
C |
T |
1: 154,577,080 (GRCm39) |
V106I |
possibly damaging |
Het |
| Ccdc97 |
G |
A |
7: 25,412,494 (GRCm39) |
A316V |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,751,841 (GRCm39) |
V431A |
probably benign |
Het |
| Cftr |
C |
T |
6: 18,268,003 (GRCm39) |
S684L |
possibly damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,535 (GRCm39) |
N272I |
probably benign |
Het |
| Csf2rb |
C |
T |
15: 78,224,749 (GRCm39) |
S169L |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,338,404 (GRCm39) |
|
probably benign |
Het |
| Cyp11b1 |
T |
A |
15: 74,711,087 (GRCm39) |
Y197F |
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,588,361 (GRCm39) |
K288E |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,908,734 (GRCm39) |
W1116R |
probably damaging |
Het |
| Dclre1c |
A |
T |
2: 3,434,827 (GRCm39) |
D97V |
probably damaging |
Het |
| Efcc1 |
A |
G |
6: 87,726,169 (GRCm39) |
R323G |
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,659,662 (GRCm39) |
I819F |
probably benign |
Het |
| Fam118b |
A |
T |
9: 35,146,732 (GRCm39) |
L45Q |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,853,869 (GRCm39) |
C1611Y |
probably damaging |
Het |
| Fsd1l |
T |
G |
4: 53,686,493 (GRCm39) |
I302S |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,823,927 (GRCm39) |
D6553E |
possibly damaging |
Het |
| Gje1 |
C |
T |
10: 14,592,435 (GRCm39) |
V116I |
probably benign |
Het |
| H2-T9 |
T |
A |
17: 36,420,626 (GRCm39) |
|
probably null |
Het |
| Helz |
C |
A |
11: 107,563,509 (GRCm39) |
H1650N |
unknown |
Het |
| Hltf |
T |
G |
3: 20,123,323 (GRCm39) |
|
probably null |
Het |
| Intu |
T |
A |
3: 40,608,139 (GRCm39) |
D50E |
possibly damaging |
Het |
| Ipo9 |
C |
T |
1: 135,313,952 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,835,783 (GRCm39) |
T1217I |
probably benign |
Het |
| Lct |
T |
A |
1: 128,228,148 (GRCm39) |
Y1115F |
probably damaging |
Het |
| Lpgat1 |
T |
C |
1: 191,492,120 (GRCm39) |
L202P |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,381,671 (GRCm39) |
R3801H |
probably benign |
Het |
| Mtfmt |
T |
A |
9: 65,344,414 (GRCm39) |
Y113* |
probably null |
Het |
| Myh7 |
A |
G |
14: 55,222,533 (GRCm39) |
F801L |
probably benign |
Het |
| Myl4 |
G |
T |
11: 104,476,572 (GRCm39) |
M191I |
probably benign |
Het |
| Myo3a |
C |
A |
2: 22,401,074 (GRCm39) |
N614K |
possibly damaging |
Het |
| Naa30 |
A |
G |
14: 49,425,059 (GRCm39) |
N337S |
probably benign |
Het |
| Nol10 |
C |
A |
12: 17,466,871 (GRCm39) |
Q584K |
probably benign |
Het |
| Nup210 |
C |
A |
6: 91,030,434 (GRCm39) |
G919C |
probably damaging |
Het |
| Or13a20 |
G |
A |
7: 140,232,113 (GRCm39) |
V74M |
probably benign |
Het |
| Or5p57 |
G |
A |
7: 107,665,513 (GRCm39) |
T134I |
probably benign |
Het |
| Pdcd6ip |
T |
A |
9: 113,514,493 (GRCm39) |
Q244L |
probably benign |
Het |
| Pde4d |
T |
C |
13: 110,074,625 (GRCm39) |
V410A |
probably benign |
Het |
| Plekha7 |
A |
T |
7: 115,756,223 (GRCm39) |
|
probably benign |
Het |
| Plpp4 |
A |
T |
7: 128,923,211 (GRCm39) |
|
probably null |
Het |
| Poln |
T |
C |
5: 34,286,769 (GRCm39) |
N133S |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,920,986 (GRCm39) |
N575D |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,159,930 (GRCm39) |
|
probably null |
Het |
| Prkar2b |
A |
G |
12: 32,111,080 (GRCm39) |
M1T |
probably null |
Het |
| Ptcd3 |
A |
G |
6: 71,869,464 (GRCm39) |
F378S |
probably damaging |
Het |
| Rab27b |
C |
A |
18: 70,129,144 (GRCm39) |
R50L |
probably damaging |
Het |
| Rpl7a |
T |
G |
2: 26,801,557 (GRCm39) |
F83C |
probably damaging |
Het |
| Slc8a2 |
A |
G |
7: 15,868,194 (GRCm39) |
E142G |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,619,928 (GRCm39) |
I85L |
possibly damaging |
Het |
| Sorcs1 |
C |
A |
19: 50,241,096 (GRCm39) |
W430L |
possibly damaging |
Het |
| Spaca6 |
T |
A |
17: 18,058,790 (GRCm39) |
|
probably null |
Het |
| Tcl1 |
G |
A |
12: 105,184,969 (GRCm39) |
|
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,153,780 (GRCm39) |
V158M |
probably damaging |
Het |
| Tex2 |
T |
G |
11: 106,459,230 (GRCm39) |
T67P |
|
Het |
| Tlr9 |
A |
T |
9: 106,103,213 (GRCm39) |
I835L |
probably benign |
Het |
| Tmem185b |
G |
C |
1: 119,454,406 (GRCm39) |
V56L |
probably benign |
Het |
| Tssk2 |
C |
T |
16: 17,717,562 (GRCm39) |
R322W |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,571,735 (GRCm39) |
Y26386F |
probably benign |
Het |
| Txndc16 |
C |
A |
14: 45,406,771 (GRCm39) |
R228I |
possibly damaging |
Het |
| Uspl1 |
T |
G |
5: 149,138,701 (GRCm39) |
|
probably null |
Het |
| Vmn1r113 |
A |
T |
7: 20,521,874 (GRCm39) |
H222L |
possibly damaging |
Het |
| Vnn1 |
T |
G |
10: 23,776,587 (GRCm39) |
S313A |
probably benign |
Het |
| Zc3hc1 |
A |
T |
6: 30,374,887 (GRCm39) |
L218Q |
possibly damaging |
Het |
| Znrf1 |
T |
G |
8: 112,264,143 (GRCm39) |
L124R |
probably damaging |
Het |
| Zzz3 |
A |
T |
3: 152,133,529 (GRCm39) |
N196Y |
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 |
|
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 |
|
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'- CTCAGTACTGTTCTCCTGGTGG -3'
(R):5'- TGGCACACATAAAGTTTCCCTC -3'
Sequencing Primer
(F):5'- TTCTCCTGGTGGCCGACTAAAG -3'
(R):5'- CATGAAGCCACTGGAAGTTGGTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation