Incidental Mutation 'R5561:Synrg'
| ID |
436613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synrg
|
| Ensembl Gene |
ENSMUSG00000034940 |
| Gene Name |
synergin, gamma |
| Synonyms |
Ap1gbp1, L71-5 |
| MMRRC Submission |
043118-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5561 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 83893066 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.4%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630095N17Rik |
T |
C |
1: 75,197,181 (GRCm39) |
|
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,624,683 (GRCm39) |
L3762P |
probably damaging |
Het |
| Amn1 |
G |
A |
6: 149,086,522 (GRCm39) |
R4W |
probably damaging |
Het |
| Atxn1 |
G |
T |
13: 45,720,347 (GRCm39) |
T516N |
possibly damaging |
Het |
| Atxn7 |
A |
T |
14: 14,089,260 (GRCm38) |
T259S |
probably benign |
Het |
| Bsn |
C |
G |
9: 107,982,710 (GRCm39) |
R3681P |
unknown |
Het |
| C8b |
T |
C |
4: 104,641,645 (GRCm39) |
Y194H |
possibly damaging |
Het |
| Ccdc110 |
T |
G |
8: 46,393,646 (GRCm39) |
S119R |
probably benign |
Het |
| Ccdc202 |
C |
A |
14: 96,119,807 (GRCm39) |
A188E |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,704,318 (GRCm39) |
Q123L |
possibly damaging |
Het |
| Clip3 |
A |
G |
7: 29,998,274 (GRCm39) |
D240G |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,004,588 (GRCm39) |
F22S |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,227,860 (GRCm39) |
M354L |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dnase1l3 |
A |
G |
14: 7,967,847 (GRCm38) |
V282A |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,364,028 (GRCm39) |
G4127S |
probably damaging |
Het |
| Eed |
G |
A |
7: 89,617,001 (GRCm39) |
R165W |
probably damaging |
Het |
| Ephb2 |
C |
T |
4: 136,388,717 (GRCm39) |
V627M |
probably damaging |
Het |
| Fancc |
T |
C |
13: 63,465,201 (GRCm39) |
E502G |
possibly damaging |
Het |
| Fbf1 |
T |
C |
11: 116,048,646 (GRCm39) |
D105G |
probably damaging |
Het |
| Fer |
T |
A |
17: 64,344,580 (GRCm39) |
Y246* |
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,532,674 (GRCm39) |
K1792E |
probably damaging |
Het |
| Foxi2 |
A |
G |
7: 135,013,376 (GRCm39) |
D202G |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| H2-DMb2 |
G |
T |
17: 34,364,445 (GRCm39) |
|
probably null |
Het |
| Helq |
G |
T |
5: 100,934,916 (GRCm39) |
D491E |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,436,362 (GRCm39) |
V564A |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,709,425 (GRCm39) |
V320D |
probably damaging |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,197 (GRCm39) |
L420* |
probably null |
Het |
| Ift80 |
T |
G |
3: 68,875,196 (GRCm39) |
N178T |
probably benign |
Het |
| Ing4 |
C |
T |
6: 125,024,023 (GRCm39) |
T89I |
possibly damaging |
Het |
| Lcp1 |
G |
A |
14: 75,449,948 (GRCm39) |
D386N |
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,159,438 (GRCm39) |
I606K |
probably benign |
Het |
| Mllt10 |
T |
A |
2: 18,114,656 (GRCm39) |
M120K |
probably damaging |
Het |
| Morc1 |
G |
T |
16: 48,269,711 (GRCm39) |
L89F |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Nav3 |
C |
A |
10: 109,552,413 (GRCm39) |
D1810Y |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,926,919 (GRCm39) |
T5532M |
probably damaging |
Het |
| Opn3 |
C |
T |
1: 175,493,153 (GRCm39) |
R137H |
probably damaging |
Het |
| Or12j2 |
C |
T |
7: 139,916,065 (GRCm39) |
Q97* |
probably null |
Het |
| Or2d36 |
A |
G |
7: 106,747,297 (GRCm39) |
N258S |
probably benign |
Het |
| Palld |
G |
A |
8: 61,969,619 (GRCm39) |
A993V |
probably damaging |
Het |
| Ppp1r12c |
A |
T |
7: 4,489,355 (GRCm39) |
|
probably null |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
T |
3: 78,995,950 (GRCm39) |
|
probably null |
Het |
| Ring1 |
T |
C |
17: 34,240,432 (GRCm39) |
E382G |
possibly damaging |
Het |
| Rpl22l1 |
T |
A |
3: 28,860,969 (GRCm39) |
N61K |
probably benign |
Het |
| Rpp14 |
A |
G |
14: 8,090,558 (GRCm38) |
|
probably null |
Het |
| Rusc2 |
C |
T |
4: 43,415,932 (GRCm39) |
Q413* |
probably null |
Het |
| Slco3a1 |
A |
G |
7: 73,968,247 (GRCm39) |
I491T |
possibly damaging |
Het |
| Smtnl1 |
C |
T |
2: 84,648,739 (GRCm39) |
V172I |
probably benign |
Het |
| Spats2l |
T |
A |
1: 57,939,780 (GRCm39) |
|
probably null |
Het |
| Spire1 |
T |
A |
18: 67,639,716 (GRCm39) |
N266Y |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,646,041 (GRCm39) |
H473R |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,141,232 (GRCm39) |
R121* |
probably null |
Het |
| Tm9sf1 |
C |
T |
14: 55,875,554 (GRCm39) |
V397M |
probably damaging |
Het |
| Trabd |
T |
C |
15: 88,966,187 (GRCm39) |
M48T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,537,577 (GRCm39) |
I26457F |
possibly damaging |
Het |
| Uggt2 |
C |
T |
14: 119,278,939 (GRCm39) |
R856Q |
probably benign |
Het |
| Ugt1a5 |
T |
A |
1: 88,094,039 (GRCm39) |
M89K |
probably benign |
Het |
| Vmn2r53 |
A |
T |
7: 12,335,347 (GRCm39) |
S104R |
probably damaging |
Het |
| Zdhhc12 |
A |
T |
2: 29,982,496 (GRCm39) |
L53Q |
probably null |
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 |
|
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'- TGTGTCAGATGCTGCTCCAC -3'
(R):5'- GAAGACAGCTACAGTGTACTGAC -3'
Sequencing Primer
(F):5'- GCTCCACATGTTAAATATGTTTGCGC -3'
(R):5'- CTTAAAGGGTTGGGGCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation