Incidental Mutation 'R9644:Synrg'
ID |
726161 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synrg
|
Ensembl Gene |
ENSMUSG00000034940 |
Gene Name |
synergin, gamma |
Synonyms |
Ap1gbp1, L71-5 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9644 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83910696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 876
(L876S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049714]
[ENSMUST00000092834]
[ENSMUST00000183456]
[ENSMUST00000183714]
|
AlphaFold |
Q5SV85 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049714
AA Change: L1032S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059000 Gene: ENSMUSG00000034940 AA Change: L1032S
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: L876S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090510 Gene: ENSMUSG00000034940 AA Change: L876S
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: L1055S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138969 Gene: ENSMUSG00000034940 AA Change: L1055S
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: L954S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139103 Gene: ENSMUSG00000034940 AA Change: L954S
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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
C |
A |
4: 152,270,752 (GRCm39) |
S32* |
probably null |
Het |
Adam34 |
T |
A |
8: 44,104,766 (GRCm39) |
H293L |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,872,036 (GRCm39) |
N910S |
probably damaging |
Het |
Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,593,835 (GRCm39) |
D480G |
possibly damaging |
Het |
Aox4 |
T |
A |
1: 58,267,278 (GRCm39) |
D185E |
probably benign |
Het |
Apol8 |
C |
A |
15: 77,633,695 (GRCm39) |
V294L |
probably damaging |
Het |
Arsk |
G |
A |
13: 76,220,227 (GRCm39) |
A289V |
probably damaging |
Het |
Atg101 |
A |
G |
15: 101,188,447 (GRCm39) |
D184G |
probably benign |
Het |
Atp10b |
C |
T |
11: 43,042,659 (GRCm39) |
T73I |
probably damaging |
Het |
Ccn4 |
T |
G |
15: 66,784,785 (GRCm39) |
C153G |
|
Het |
Ccser2 |
A |
T |
14: 36,601,150 (GRCm39) |
N411K |
possibly damaging |
Het |
Cct5 |
A |
G |
15: 31,601,845 (GRCm39) |
S3P |
probably benign |
Het |
Chn1 |
A |
T |
2: 73,490,184 (GRCm39) |
I31K |
probably benign |
Het |
Clec2e |
T |
A |
6: 129,070,443 (GRCm39) |
I193L |
probably benign |
Het |
Crim1 |
G |
A |
17: 78,587,497 (GRCm39) |
G201R |
probably damaging |
Het |
Ctrc |
A |
G |
4: 141,572,336 (GRCm39) |
V68A |
probably damaging |
Het |
Dennd4c |
T |
A |
4: 86,713,363 (GRCm39) |
I438N |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,230,650 (GRCm39) |
W183R |
probably damaging |
Het |
Dnali1 |
T |
A |
4: 124,950,402 (GRCm39) |
I253F |
probably damaging |
Het |
Dyrk1b |
T |
C |
7: 27,881,790 (GRCm39) |
L83P |
probably damaging |
Het |
Emx2 |
T |
C |
19: 59,452,427 (GRCm39) |
I237T |
probably benign |
Het |
Enpp3 |
C |
T |
10: 24,685,801 (GRCm39) |
R198K |
probably damaging |
Het |
Epb41l1 |
C |
T |
2: 156,367,165 (GRCm39) |
P678L |
possibly damaging |
Het |
Epm2aip1 |
C |
T |
9: 111,102,137 (GRCm39) |
T370I |
probably damaging |
Het |
Fam184a |
T |
G |
10: 53,573,342 (GRCm39) |
Q346P |
probably damaging |
Het |
Foxi2 |
A |
C |
7: 135,013,727 (GRCm39) |
H319P |
possibly damaging |
Het |
Gatad1 |
A |
G |
5: 3,691,442 (GRCm39) |
V250A |
possibly damaging |
Het |
Gmeb1 |
T |
C |
4: 131,959,440 (GRCm39) |
I205V |
probably benign |
Het |
Gucy2g |
C |
G |
19: 55,219,537 (GRCm39) |
V362L |
probably benign |
Het |
Hace1 |
T |
C |
10: 45,526,001 (GRCm39) |
S281P |
probably benign |
Het |
Helz |
C |
A |
11: 107,563,687 (GRCm39) |
A1709D |
unknown |
Het |
Igf2bp2 |
T |
A |
16: 21,902,735 (GRCm39) |
N115Y |
probably damaging |
Het |
Igkv4-86 |
C |
T |
6: 68,887,593 (GRCm39) |
V49I |
probably benign |
Het |
Kdm2b |
A |
T |
5: 123,120,842 (GRCm39) |
V101E |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,061,018 (GRCm39) |
D790G |
probably damaging |
Het |
Kif18a |
A |
G |
2: 109,171,517 (GRCm39) |
T865A |
probably benign |
Het |
Kif1b |
A |
G |
4: 149,375,836 (GRCm39) |
V10A |
probably damaging |
Het |
Kmt2d |
A |
T |
15: 98,743,385 (GRCm39) |
M3925K |
unknown |
Het |
Mcee |
G |
T |
7: 64,061,730 (GRCm39) |
A178S |
possibly damaging |
Het |
Megf10 |
A |
T |
18: 57,375,773 (GRCm39) |
H233L |
probably benign |
Het |
Meox1 |
T |
A |
11: 101,769,482 (GRCm39) |
E238V |
probably benign |
Het |
Myo5a |
G |
A |
9: 75,043,631 (GRCm39) |
G207R |
probably damaging |
Het |
Nemf |
T |
A |
12: 69,359,436 (GRCm39) |
N966I |
possibly damaging |
Het |
Or10q3 |
T |
C |
19: 11,848,574 (GRCm39) |
E2G |
probably benign |
Het |
Or1j14 |
A |
T |
2: 36,417,777 (GRCm39) |
M118L |
probably damaging |
Het |
Or5b123 |
G |
T |
19: 13,597,344 (GRCm39) |
A230S |
probably benign |
Het |
Or6c204 |
A |
G |
10: 129,022,738 (GRCm39) |
I184T |
possibly damaging |
Het |
Pfas |
T |
C |
11: 68,883,542 (GRCm39) |
Q662R |
probably benign |
Het |
Phf2 |
G |
T |
13: 49,024,218 (GRCm39) |
C8* |
probably null |
Het |
Pkhd1 |
T |
A |
1: 20,617,690 (GRCm39) |
N965I |
probably benign |
Het |
Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
Prb1b |
T |
A |
6: 132,289,218 (GRCm39) |
Q202L |
unknown |
Het |
Prdm8 |
A |
T |
5: 98,333,638 (GRCm39) |
T402S |
probably benign |
Het |
Proz |
T |
A |
8: 13,116,854 (GRCm39) |
D135E |
probably benign |
Het |
Prtg |
T |
A |
9: 72,813,493 (GRCm39) |
I951K |
probably damaging |
Het |
Rasgef1b |
A |
T |
5: 99,380,014 (GRCm39) |
Y288* |
probably null |
Het |
Sacs |
T |
A |
14: 61,443,428 (GRCm39) |
C1825S |
probably benign |
Het |
Slc22a12 |
G |
C |
19: 6,587,673 (GRCm39) |
P427R |
probably damaging |
Het |
Slfn3 |
A |
G |
11: 83,105,728 (GRCm39) |
Y575C |
probably damaging |
Het |
St18 |
C |
T |
1: 6,929,276 (GRCm39) |
T56I |
|
Het |
Tchh |
T |
C |
3: 93,354,666 (GRCm39) |
C1369R |
unknown |
Het |
Tet2 |
G |
A |
3: 133,193,064 (GRCm39) |
Q457* |
probably null |
Het |
Thap12 |
T |
C |
7: 98,364,495 (GRCm39) |
V221A |
probably damaging |
Het |
Tor3a |
T |
A |
1: 156,501,126 (GRCm39) |
D104V |
probably damaging |
Het |
Trpc2 |
T |
C |
7: 101,744,439 (GRCm39) |
V737A |
possibly damaging |
Het |
Trpc4 |
A |
G |
3: 54,129,699 (GRCm39) |
Y155C |
probably damaging |
Het |
Tspyl1 |
T |
C |
10: 34,159,135 (GRCm39) |
S287P |
possibly damaging |
Het |
Ube2u |
TAGAAGAAGAAGAAGAAGAAGAAGAAGA |
TAGAAGAAGAAGAAGAAGAAGAAGA |
4: 100,406,943 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
A |
G |
17: 47,266,706 (GRCm39) |
|
probably null |
Het |
Vmn1r238 |
T |
A |
18: 3,122,635 (GRCm39) |
T260S |
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 |
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 |
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'- ACTTCCAGGATTTCACCAGGC -3'
(R):5'- TGGAACATCTATTTCCTGCTAAGC -3'
Sequencing Primer
(F):5'- TTTCACCAGGCAGGACATG -3'
(R):5'- AGGCTGACCTCAAAGTCATGATCTTC -3'
|
Posted On |
2022-09-12 |