Incidental Mutation 'R0227:Synrg'
ID 34004
Institutional Source Beutler Lab
Gene Symbol Synrg
Ensembl Gene ENSMUSG00000034940
Gene Name synergin, gamma
Synonyms Ap1gbp1, L71-5
MMRRC Submission 038472-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0227 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 83855254-83935404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83900258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 821 (D821E)
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: D822E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: D822E

DomainStartEndE-ValueType
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: D743E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: D743E

DomainStartEndE-ValueType
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: D922E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: D922E

DomainStartEndE-ValueType
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: D821E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: D821E

DomainStartEndE-ValueType
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 0.0893 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
Validation Efficiency 86% (37/43)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik A T 7: 136,989,438 (GRCm39) probably benign Het
Ankrd12 T A 17: 66,294,222 (GRCm39) T404S probably benign Het
Ap4m1 T C 5: 138,174,538 (GRCm39) probably benign Het
Atn1 A T 6: 124,723,893 (GRCm39) probably benign Het
Bcl9l A G 9: 44,416,533 (GRCm39) Y202C possibly damaging Het
Ceacam18 G T 7: 43,288,815 (GRCm39) G189C probably damaging Het
Cfap65 C T 1: 74,971,117 (GRCm39) W67* probably null Het
Col2a1 C T 15: 97,874,636 (GRCm39) E1334K unknown Het
Crim1 A G 17: 78,651,938 (GRCm39) probably benign Het
Csmd1 A G 8: 16,441,836 (GRCm39) S343P probably benign Het
D430041D05Rik G T 2: 104,035,545 (GRCm39) D1594E possibly damaging Het
Ess2 C T 16: 17,720,135 (GRCm39) V406I probably damaging Het
Gcm2 C T 13: 41,259,332 (GRCm39) V46M probably damaging Het
Gm3486 A T 14: 41,206,518 (GRCm39) V185E probably benign Het
Gtf3a C A 5: 146,892,199 (GRCm39) R317S probably damaging Het
Ice2 A G 9: 69,319,510 (GRCm39) I320V probably benign Het
Jag1 A G 2: 136,957,538 (GRCm39) V58A probably benign Het
Macf1 T C 4: 123,293,184 (GRCm39) E1241G probably benign Het
Mogat2 T A 7: 98,872,339 (GRCm39) I171F probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Myo1c A T 11: 75,549,520 (GRCm39) Y201F probably benign Het
Myo9b A G 8: 71,796,806 (GRCm39) I884V probably damaging Het
Nudt9 T C 5: 104,209,541 (GRCm39) I264T possibly damaging Het
Or8g30 A G 9: 39,229,974 (GRCm39) V312A probably benign Het
Pdcd11 AGAGGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAG 19: 47,101,876 (GRCm39) probably benign Het
Rabgef1 T C 5: 130,219,831 (GRCm39) V98A probably damaging Het
Raly A G 2: 154,707,841 (GRCm39) D287G probably damaging Het
Raph1 A G 1: 60,565,136 (GRCm39) V117A probably benign Het
Slc34a2 T C 5: 53,226,968 (GRCm39) F697S possibly damaging Het
Son T A 16: 91,453,761 (GRCm39) M836K probably damaging Het
Spock1 T C 13: 57,588,290 (GRCm39) M258V possibly damaging Het
Stk10 G T 11: 32,567,859 (GRCm39) C887F probably damaging Het
Synpo2 A G 3: 122,907,442 (GRCm39) S625P probably benign Het
Tafa5 T C 15: 87,604,691 (GRCm39) probably benign Het
Tg C A 15: 66,570,295 (GRCm39) A1389E possibly damaging Het
Tspan33 G A 6: 29,713,477 (GRCm39) V134M probably damaging Het
Ubr4 T C 4: 139,158,960 (GRCm39) F2438L probably benign Het
Vmn1r210 C T 13: 23,011,561 (GRCm39) V242I probably benign Het
Vmn1r63 C T 7: 5,805,741 (GRCm39) W297* probably null Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Zic5 A G 14: 122,697,073 (GRCm39) I514T unknown Het
Other mutations in Synrg
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGTGAAGATGACTTTGCCGACTTCC -3'
(R):5'- AGCTTCAGAGCTGTCAGAGTACCC -3'

Sequencing Primer
(F):5'- CGACTTCCACTCCAGTAAATTC -3'
(R):5'- TGGTCTGTCAGTCAGACAATACC -3'
Posted On 2013-05-09