Incidental Mutation 'R1240:Synrg'
ID |
151947 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synrg
|
Ensembl Gene |
ENSMUSG00000034940 |
Gene Name |
synergin, gamma |
Synonyms |
Ap1gbp1, L71-5 |
MMRRC Submission |
039307-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1240 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
83855254-83935404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83914182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 1115
(T1115S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049714]
[ENSMUST00000092834]
[ENSMUST00000183456]
[ENSMUST00000183714]
|
AlphaFold |
Q5SV85 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049714
AA Change: T1092S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000059000 Gene: ENSMUSG00000034940 AA Change: T1092S
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: T936S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090510 Gene: ENSMUSG00000034940 AA Change: T936S
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 damaging
Transcript: ENSMUST00000183456
AA Change: T1115S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138969 Gene: ENSMUSG00000034940 AA Change: T1115S
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: T1014S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139103 Gene: ENSMUSG00000034940 AA Change: T1014S
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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
G |
5: 124,227,984 (GRCm39) |
I86L |
probably benign |
Het |
Ankfn1 |
A |
G |
11: 89,282,960 (GRCm39) |
L229P |
probably damaging |
Het |
Aoc1 |
T |
C |
6: 48,882,549 (GRCm39) |
S164P |
probably benign |
Het |
Arhgef28 |
C |
T |
13: 98,066,000 (GRCm39) |
V1618I |
probably benign |
Het |
Arpc3 |
T |
C |
5: 122,542,242 (GRCm39) |
F88S |
probably damaging |
Het |
Asgr2 |
G |
T |
11: 69,987,676 (GRCm39) |
R58L |
possibly damaging |
Het |
Bach2 |
T |
C |
4: 32,563,198 (GRCm39) |
F432S |
probably damaging |
Het |
Brms1l |
C |
A |
12: 55,891,293 (GRCm39) |
R116S |
probably damaging |
Het |
Casp2 |
T |
A |
6: 42,245,879 (GRCm39) |
C179S |
probably damaging |
Het |
Ccdc73 |
A |
T |
2: 104,821,906 (GRCm39) |
E618D |
probably benign |
Het |
Cdh6 |
T |
A |
15: 13,057,541 (GRCm39) |
D260V |
possibly damaging |
Het |
Cenpc1 |
G |
T |
5: 86,183,369 (GRCm39) |
N473K |
probably benign |
Het |
Chst2 |
T |
C |
9: 95,287,536 (GRCm39) |
E270G |
possibly damaging |
Het |
Chst9 |
C |
T |
18: 15,586,231 (GRCm39) |
E111K |
probably benign |
Het |
Cyp3a44 |
T |
G |
5: 145,711,250 (GRCm39) |
I474L |
probably benign |
Het |
Dbr1 |
G |
T |
9: 99,466,073 (GRCm39) |
E550D |
probably benign |
Het |
Dph6 |
T |
C |
2: 114,475,199 (GRCm39) |
|
probably null |
Het |
Fam227b |
T |
A |
2: 125,966,505 (GRCm39) |
I136L |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,819,950 (GRCm39) |
N2559S |
probably damaging |
Het |
Fh1 |
A |
T |
1: 175,431,581 (GRCm39) |
I435N |
probably damaging |
Het |
Gab1 |
A |
C |
8: 81,515,159 (GRCm39) |
S386R |
probably damaging |
Het |
Gkn1 |
T |
A |
6: 87,326,098 (GRCm39) |
N31Y |
probably damaging |
Het |
Grk2 |
A |
G |
19: 4,340,707 (GRCm39) |
C251R |
probably damaging |
Het |
H2-DMa |
G |
T |
17: 34,357,380 (GRCm39) |
|
probably null |
Het |
Hp1bp3 |
T |
C |
4: 137,957,009 (GRCm39) |
S63P |
probably damaging |
Het |
Ift74 |
A |
G |
4: 94,581,174 (GRCm39) |
|
probably null |
Het |
Inf2 |
G |
A |
12: 112,577,210 (GRCm39) |
R1018Q |
unknown |
Het |
Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
Klhl30 |
T |
C |
1: 91,288,737 (GRCm39) |
S499P |
probably benign |
Het |
Lama2 |
A |
C |
10: 26,917,120 (GRCm39) |
D2268E |
probably damaging |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Marf1 |
T |
C |
16: 13,964,626 (GRCm39) |
N258S |
possibly damaging |
Het |
Mc1r |
T |
A |
8: 124,134,999 (GRCm39) |
C251S |
probably damaging |
Het |
Myo15b |
C |
A |
11: 115,771,327 (GRCm39) |
Q257K |
possibly damaging |
Het |
Nbeal2 |
A |
G |
9: 110,456,176 (GRCm39) |
F2431S |
probably damaging |
Het |
Neb |
T |
A |
2: 52,186,321 (GRCm39) |
H917L |
possibly damaging |
Het |
Nlrp1a |
A |
G |
11: 71,004,292 (GRCm39) |
|
probably null |
Het |
Nr1d2 |
A |
T |
14: 18,211,891 (GRCm38) |
M404K |
probably benign |
Het |
Or4b1d |
T |
G |
2: 89,969,157 (GRCm39) |
I109L |
possibly damaging |
Het |
Or8u8 |
T |
G |
2: 86,012,453 (GRCm39) |
M1L |
possibly damaging |
Het |
Otoa |
T |
C |
7: 120,755,713 (GRCm39) |
S1040P |
probably benign |
Het |
Pctp |
T |
C |
11: 89,893,640 (GRCm39) |
D10G |
probably benign |
Het |
Pja2 |
G |
T |
17: 64,616,613 (GRCm39) |
T94K |
probably benign |
Het |
Plxna1 |
C |
T |
6: 89,298,032 (GRCm39) |
V1749M |
probably damaging |
Het |
Prdm15 |
C |
T |
16: 97,638,800 (GRCm39) |
E87K |
probably damaging |
Het |
Rgsl1 |
A |
G |
1: 153,660,937 (GRCm39) |
F1028L |
probably benign |
Het |
Sepsecs |
T |
C |
5: 52,818,021 (GRCm39) |
N252S |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
Slc22a22 |
G |
A |
15: 57,114,268 (GRCm39) |
S353F |
probably benign |
Het |
Slc49a4 |
A |
G |
16: 35,518,379 (GRCm39) |
F445L |
probably benign |
Het |
Slc7a13 |
A |
T |
4: 19,819,212 (GRCm39) |
K137N |
probably damaging |
Het |
Snx13 |
G |
T |
12: 35,141,405 (GRCm39) |
V163L |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,740,928 (GRCm39) |
V1185A |
possibly damaging |
Het |
Tent5b |
T |
C |
4: 133,213,815 (GRCm39) |
F229L |
probably benign |
Het |
Tg |
T |
A |
15: 66,700,397 (GRCm39) |
N118K |
probably benign |
Het |
Top1mt |
T |
C |
15: 75,541,916 (GRCm39) |
K153E |
probably damaging |
Het |
Trmt11 |
T |
C |
10: 30,466,821 (GRCm39) |
|
probably benign |
Het |
Unc80 |
A |
G |
1: 66,675,061 (GRCm39) |
D1953G |
possibly damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,828,864 (GRCm39) |
S137C |
probably damaging |
Het |
Vwf |
C |
A |
6: 125,580,271 (GRCm39) |
|
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 |
|
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'- CCTGAAGGAAAGCCTCTAAGCCAAG -3'
(R):5'- TCATTCCAGGCTAGAGCTACCAGC -3'
Sequencing Primer
(F):5'- GATCACCTGTCAGAGATGGTCAC -3'
(R):5'- GCTAGAGCTACCAGCCTTGAC -3'
|
Posted On |
2014-01-29 |