Incidental Mutation 'R6259:Synrg'
| ID |
506564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synrg
|
| Ensembl Gene |
ENSMUSG00000034940 |
| Gene Name |
synergin, gamma |
| Synonyms |
Ap1gbp1, L71-5 |
| MMRRC Submission |
044376-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6259 (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 83899484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 563
(D563E)
|
| 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: D564E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: D564E
| 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: D485E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: D485E
| 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: D664E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: D664E
| 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: D563E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: D563E
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
99% (74/75) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,584,120 (GRCm39) |
N393K |
probably benign |
Het |
| Acap3 |
A |
T |
4: 155,980,575 (GRCm39) |
I19F |
possibly damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,184,513 (GRCm39) |
Y96C |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,696,641 (GRCm39) |
R172H |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,156,483 (GRCm39) |
F416L |
possibly damaging |
Het |
| Amy1 |
T |
C |
3: 113,363,059 (GRCm39) |
D96G |
possibly damaging |
Het |
| Ank2 |
A |
G |
3: 126,810,635 (GRCm39) |
S484P |
probably benign |
Het |
| Arsa |
A |
G |
15: 89,359,724 (GRCm39) |
C68R |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,361 (GRCm39) |
Y69C |
probably benign |
Het |
| Ass1 |
A |
G |
2: 31,378,654 (GRCm39) |
E162G |
possibly damaging |
Het |
| Atf7 |
G |
T |
15: 102,455,673 (GRCm39) |
N230K |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,092,065 (GRCm39) |
M367V |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,861,050 (GRCm39) |
Y179C |
probably damaging |
Het |
| BC004004 |
A |
T |
17: 29,517,686 (GRCm39) |
Q300L |
possibly damaging |
Het |
| Bglap3 |
A |
T |
3: 88,276,067 (GRCm39) |
I95N |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,616,630 (GRCm39) |
|
probably null |
Het |
| Caskin2 |
C |
T |
11: 115,691,279 (GRCm39) |
G1141D |
probably damaging |
Het |
| Clcn4 |
G |
A |
7: 7,294,529 (GRCm39) |
R351W |
possibly damaging |
Het |
| Col11a1 |
T |
C |
3: 113,932,096 (GRCm39) |
C89R |
probably benign |
Het |
| Csrp1 |
T |
G |
1: 135,667,252 (GRCm39) |
|
probably null |
Het |
| Cwf19l2 |
T |
C |
9: 3,458,879 (GRCm39) |
I776T |
probably damaging |
Het |
| Cyp2b19 |
A |
T |
7: 26,470,817 (GRCm39) |
Q486L |
possibly damaging |
Het |
| Cyp2j9 |
T |
A |
4: 96,472,243 (GRCm39) |
Y165F |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dennd1c |
G |
A |
17: 57,374,104 (GRCm39) |
R522C |
probably damaging |
Het |
| Dmgdh |
T |
C |
13: 93,888,816 (GRCm39) |
V818A |
probably benign |
Het |
| Dst |
T |
A |
1: 34,221,477 (GRCm39) |
V2427E |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,175,264 (GRCm39) |
T1354M |
probably benign |
Het |
| Ehbp1 |
A |
G |
11: 22,235,684 (GRCm39) |
|
probably benign |
Het |
| Epc2 |
T |
A |
2: 49,378,866 (GRCm39) |
|
probably null |
Het |
| Eya2 |
T |
C |
2: 165,558,019 (GRCm39) |
V205A |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,061,395 (GRCm39) |
H4326R |
probably benign |
Het |
| Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
| Gm10100 |
G |
T |
10: 77,562,498 (GRCm39) |
C60F |
possibly damaging |
Het |
| Hhip |
T |
A |
8: 80,699,033 (GRCm39) |
R678W |
probably damaging |
Het |
| Il21r |
T |
A |
7: 125,229,891 (GRCm39) |
I266K |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,744,970 (GRCm39) |
S1689P |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,566,128 (GRCm39) |
E317G |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lratd1 |
T |
A |
12: 14,200,646 (GRCm39) |
D27V |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,221,589 (GRCm39) |
N244D |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,586,450 (GRCm39) |
H422L |
probably benign |
Het |
| Map4k5 |
A |
G |
12: 69,899,514 (GRCm39) |
S46P |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,417,113 (GRCm39) |
|
probably benign |
Het |
| Nploc4 |
T |
C |
11: 120,276,691 (GRCm39) |
I452V |
probably benign |
Het |
| Oas1d |
T |
A |
5: 121,057,244 (GRCm39) |
Y283* |
probably null |
Het |
| Or52h1 |
A |
T |
7: 103,829,261 (GRCm39) |
M118K |
possibly damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,264 (GRCm39) |
I18F |
probably benign |
Het |
| Or5b109 |
A |
G |
19: 13,211,785 (GRCm39) |
H57R |
probably damaging |
Het |
| Or5l13 |
T |
C |
2: 87,779,779 (GRCm39) |
N266S |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,712,810 (GRCm39) |
V804A |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,250,749 (GRCm39) |
Y450F |
possibly damaging |
Het |
| Pprc1 |
T |
A |
19: 46,052,849 (GRCm39) |
V789E |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,769,454 (GRCm39) |
M436T |
possibly damaging |
Het |
| Prepl |
A |
T |
17: 85,377,859 (GRCm39) |
V507D |
probably damaging |
Het |
| Rag1 |
T |
A |
2: 101,474,797 (GRCm39) |
N115I |
possibly damaging |
Het |
| Rap1gap |
T |
C |
4: 137,409,068 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
C |
5: 22,265,331 (GRCm39) |
F454V |
probably damaging |
Het |
| Slc39a11 |
A |
T |
11: 113,354,780 (GRCm39) |
S150T |
probably benign |
Het |
| Slc45a1 |
T |
A |
4: 150,722,817 (GRCm39) |
I356F |
possibly damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,060,343 (GRCm39) |
G529D |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,839,393 (GRCm39) |
D353V |
possibly damaging |
Het |
| Susd2 |
T |
C |
10: 75,473,880 (GRCm39) |
S572G |
probably damaging |
Het |
| Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
| Tnfrsf8 |
A |
G |
4: 145,004,094 (GRCm39) |
|
probably null |
Het |
| Trim26 |
C |
T |
17: 37,167,110 (GRCm39) |
A267V |
probably benign |
Het |
| Trpm1 |
T |
G |
7: 63,918,226 (GRCm39) |
F522C |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,273,997 (GRCm39) |
I29V |
probably benign |
Het |
| Unc5d |
C |
T |
8: 29,156,820 (GRCm39) |
M808I |
probably benign |
Het |
| Vmn2r108 |
T |
A |
17: 20,683,371 (GRCm39) |
D611V |
possibly damaging |
Het |
| Vps13a |
A |
C |
19: 16,664,534 (GRCm39) |
Y1436* |
probably null |
Het |
| Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly damaging |
Het |
| Zfp518a |
G |
T |
19: 40,901,225 (GRCm39) |
V385F |
probably benign |
Het |
| Zfp541 |
C |
T |
7: 15,829,451 (GRCm39) |
A1222V |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (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 |
|
|
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 |
|
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'- AGAGTCTTGAGCCGTGCTTG -3'
(R):5'- GAAACGGACTTTGCTGTGC -3'
Sequencing Primer
(F):5'- CCTTATCACTGGCTTTAATGGAGAC -3'
(R):5'- GAAACGGACTTTGCTGTGCTAAATG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation