Incidental Mutation 'R5575:Synrg'
ID |
437178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synrg
|
Ensembl Gene |
ENSMUSG00000034940 |
Gene Name |
synergin, gamma |
Synonyms |
Ap1gbp1, L71-5 |
MMRRC Submission |
043130-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5575 (G1)
|
Quality Score |
196 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 83900378 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 null
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 null
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 null
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 null
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 |
0.9596 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
Validation Efficiency |
97% (57/59) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
C |
T |
14: 54,916,195 (GRCm39) |
|
probably null |
Het |
Adrm1 |
T |
G |
2: 179,817,509 (GRCm39) |
D325E |
probably benign |
Het |
Anapc4 |
T |
A |
5: 53,013,213 (GRCm39) |
V433E |
probably damaging |
Het |
Aplf |
A |
C |
6: 87,623,129 (GRCm39) |
C338G |
probably benign |
Het |
Atad5 |
A |
G |
11: 79,991,149 (GRCm39) |
T681A |
probably benign |
Het |
B9d2 |
A |
G |
7: 25,382,757 (GRCm39) |
T44A |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,405,015 (GRCm39) |
K81R |
possibly damaging |
Het |
Cep170b |
T |
A |
12: 112,702,066 (GRCm39) |
H286Q |
probably damaging |
Het |
Cfap61 |
G |
A |
2: 145,859,313 (GRCm39) |
V434I |
probably benign |
Het |
Col5a2 |
A |
T |
1: 45,417,642 (GRCm39) |
I1311N |
probably damaging |
Het |
Col9a3 |
A |
T |
2: 180,240,639 (GRCm39) |
|
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,168,447 (GRCm39) |
C671S |
probably damaging |
Het |
Eif5 |
T |
C |
12: 111,508,740 (GRCm39) |
V245A |
probably damaging |
Het |
Epha5 |
G |
A |
5: 84,564,361 (GRCm39) |
R2W |
probably damaging |
Het |
Gabrb2 |
G |
A |
11: 42,420,365 (GRCm39) |
|
probably benign |
Het |
Gm3453 |
A |
G |
14: 5,978,205 (GRCm38) |
V66A |
possibly damaging |
Het |
Gna15 |
T |
C |
10: 81,359,707 (GRCm39) |
I28V |
probably damaging |
Het |
Hk3 |
A |
T |
13: 55,162,583 (GRCm39) |
D88E |
probably damaging |
Het |
Hmbox1 |
T |
C |
14: 65,060,613 (GRCm39) |
T375A |
probably benign |
Het |
Ibsp |
A |
T |
5: 104,457,925 (GRCm39) |
E154V |
possibly damaging |
Het |
Il7r |
A |
G |
15: 9,508,273 (GRCm39) |
S350P |
probably benign |
Het |
Isx |
T |
C |
8: 75,619,429 (GRCm39) |
L207P |
probably benign |
Het |
Krt35 |
T |
C |
11: 99,985,450 (GRCm39) |
E197G |
probably damaging |
Het |
Krt78 |
G |
A |
15: 101,855,787 (GRCm39) |
Q675* |
probably null |
Het |
Marchf1 |
T |
A |
8: 66,920,962 (GRCm39) |
V217E |
probably damaging |
Het |
Mertk |
T |
C |
2: 128,578,485 (GRCm39) |
I157T |
probably damaging |
Het |
Mmab |
A |
T |
5: 114,574,832 (GRCm39) |
L147Q |
probably damaging |
Het |
Ndst4 |
T |
A |
3: 125,231,479 (GRCm39) |
V16D |
probably benign |
Het |
Niban1 |
A |
T |
1: 151,593,991 (GRCm39) |
H892L |
probably benign |
Het |
Ogdhl |
T |
C |
14: 32,047,804 (GRCm39) |
L18P |
possibly damaging |
Het |
Pikfyve |
A |
C |
1: 65,312,889 (GRCm39) |
H2089P |
probably damaging |
Het |
Plxna1 |
A |
T |
6: 89,301,523 (GRCm39) |
L1501Q |
possibly damaging |
Het |
Ppp2r5c |
T |
C |
12: 110,519,266 (GRCm39) |
F246S |
probably damaging |
Het |
Ptbp2 |
A |
T |
3: 119,514,432 (GRCm39) |
|
probably null |
Het |
Ptbp2 |
G |
A |
3: 119,514,438 (GRCm39) |
P463L |
possibly damaging |
Het |
Rad51 |
A |
G |
2: 118,964,914 (GRCm39) |
D274G |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,328,405 (GRCm39) |
V2807A |
probably damaging |
Het |
Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
Rp1l1 |
C |
T |
14: 64,268,433 (GRCm39) |
H1340Y |
probably benign |
Het |
Ryr1 |
T |
A |
7: 28,778,118 (GRCm39) |
H2133L |
possibly damaging |
Het |
Scgb1c1 |
G |
A |
7: 140,426,024 (GRCm39) |
G40E |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,963,871 (GRCm39) |
I703T |
probably damaging |
Het |
Spag17 |
G |
A |
3: 99,961,138 (GRCm39) |
A975T |
possibly damaging |
Het |
Supt6 |
T |
C |
11: 78,119,787 (GRCm39) |
D400G |
probably damaging |
Het |
Thada |
A |
C |
17: 84,723,827 (GRCm39) |
|
probably null |
Het |
Themis3 |
A |
G |
17: 66,862,321 (GRCm39) |
S546P |
possibly damaging |
Het |
Tinf2 |
T |
C |
14: 55,917,631 (GRCm39) |
D286G |
probably benign |
Het |
Tmem67 |
A |
T |
4: 12,047,886 (GRCm39) |
V815D |
possibly damaging |
Het |
Trpm1 |
T |
C |
7: 63,870,018 (GRCm39) |
L441P |
possibly damaging |
Het |
Vapa |
A |
G |
17: 65,920,247 (GRCm39) |
V16A |
probably benign |
Het |
Vmn2r38 |
A |
T |
7: 9,078,635 (GRCm39) |
Y582* |
probably null |
Het |
Vps13b |
A |
T |
15: 35,930,065 (GRCm39) |
K3934I |
probably damaging |
Het |
Wrn |
G |
A |
8: 33,826,158 (GRCm39) |
T168I |
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 |
|
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'- TGCCAAAGAAGACTCCTCCTCG -3'
(R):5'- GAGCTGTCAGAGTACCCATAGG -3'
Sequencing Primer
(F):5'- AGAAGACTCCTCCTCGGTGAAG -3'
(R):5'- CCCATAGGTTAAGGTTTCAGTAACAC -3'
|
Posted On |
2016-10-26 |