Incidental Mutation 'R1114:Synrg'
ID |
97065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synrg
|
Ensembl Gene |
ENSMUSG00000034940 |
Gene Name |
synergin, gamma |
Synonyms |
Ap1gbp1, L71-5 |
MMRRC Submission |
039187-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1114 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 83914262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049714]
[ENSMUST00000092834]
[ENSMUST00000183456]
[ENSMUST00000183714]
|
AlphaFold |
Q5SV85 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049714
|
SMART Domains |
Protein: ENSMUSP00000059000 Gene: ENSMUSG00000034940
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 |
noncoding transcript
Transcript: ENSMUST00000132887
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184239
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.5%
- 20x: 84.2%
|
Validation Efficiency |
100% (47/47) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700128F08Rik |
T |
A |
9: 8,222,179 (GRCm39) |
|
noncoding transcript |
Het |
Acss3 |
T |
A |
10: 106,824,740 (GRCm39) |
R422S |
possibly damaging |
Het |
Asb15 |
G |
A |
6: 24,567,176 (GRCm39) |
R499H |
probably damaging |
Het |
Aspm |
C |
T |
1: 139,389,662 (GRCm39) |
|
probably benign |
Het |
Camk2d |
G |
A |
3: 126,633,941 (GRCm39) |
V488M |
probably damaging |
Het |
Cd247 |
A |
G |
1: 165,616,407 (GRCm39) |
K4E |
probably benign |
Het |
Cdh20 |
A |
G |
1: 104,906,739 (GRCm39) |
D522G |
probably damaging |
Het |
Cse1l |
T |
A |
2: 166,783,123 (GRCm39) |
|
probably benign |
Het |
Dctn2 |
T |
A |
10: 127,114,011 (GRCm39) |
|
probably null |
Het |
Dpy19l1 |
A |
T |
9: 24,336,072 (GRCm39) |
F545I |
probably benign |
Het |
Dpy19l4 |
A |
G |
4: 11,287,643 (GRCm39) |
|
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,599,540 (GRCm39) |
T719S |
possibly damaging |
Het |
Dusp12 |
A |
C |
1: 170,708,586 (GRCm39) |
V48G |
probably damaging |
Het |
Efcab7 |
A |
T |
4: 99,735,452 (GRCm39) |
R159* |
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fbxw20 |
A |
G |
9: 109,052,550 (GRCm39) |
V261A |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Inpp5j |
C |
A |
11: 3,444,814 (GRCm39) |
R953L |
possibly damaging |
Het |
Itprid2 |
A |
G |
2: 79,487,873 (GRCm39) |
E652G |
probably damaging |
Het |
Lrrk2 |
C |
T |
15: 91,584,671 (GRCm39) |
R363* |
probably null |
Het |
Ltbp1 |
A |
G |
17: 75,667,770 (GRCm39) |
D1089G |
probably benign |
Het |
Luc7l |
T |
C |
17: 26,494,832 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
G |
A |
4: 32,746,568 (GRCm39) |
|
probably null |
Het |
Mgat4a |
A |
T |
1: 37,503,487 (GRCm39) |
|
probably benign |
Het |
Mmp12 |
A |
G |
9: 7,358,289 (GRCm39) |
T392A |
possibly damaging |
Het |
Nlrp12 |
A |
G |
7: 3,277,166 (GRCm39) |
V921A |
probably benign |
Het |
Or5m5 |
A |
T |
2: 85,814,651 (GRCm39) |
I156F |
probably benign |
Het |
Or5t7 |
G |
A |
2: 86,507,629 (GRCm39) |
T16I |
possibly damaging |
Het |
Or6c8b |
T |
A |
10: 128,882,711 (GRCm39) |
I74F |
possibly damaging |
Het |
Pkd2l1 |
T |
C |
19: 44,179,983 (GRCm39) |
|
probably benign |
Het |
Pramel24 |
A |
G |
4: 143,453,425 (GRCm39) |
I178V |
probably benign |
Het |
Rictor |
C |
A |
15: 6,823,486 (GRCm39) |
C1554* |
probably null |
Het |
Ryr2 |
A |
G |
13: 11,960,867 (GRCm39) |
C24R |
probably damaging |
Het |
Scamp2 |
T |
A |
9: 57,488,863 (GRCm39) |
I188N |
probably damaging |
Het |
Smg1 |
A |
T |
7: 117,759,013 (GRCm39) |
|
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Syt9 |
G |
T |
7: 107,024,562 (GRCm39) |
V152F |
possibly damaging |
Het |
Trmt2a |
A |
G |
16: 18,068,304 (GRCm39) |
|
probably benign |
Het |
Vmn2r100 |
T |
C |
17: 19,752,261 (GRCm39) |
I831T |
probably damaging |
Het |
Vps13a |
G |
T |
19: 16,727,515 (GRCm39) |
H196N |
probably benign |
Het |
Xdh |
T |
C |
17: 74,248,144 (GRCm39) |
|
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 |
|
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 |
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'- AGTAACGGAACCTTTGTGTGTACTGTC -3'
(R):5'- GCTTAACTCATTCCACAGGTCACAGC -3'
Sequencing Primer
(F):5'- ACCCAGGATCACACAAGAGG -3'
(R):5'- CAGGGTGTTTAAGATACCACAGAC -3'
|
Posted On |
2014-01-05 |