Incidental Mutation 'R3787:Synrg'
ID 272330
Institutional Source Beutler Lab
Gene Symbol Synrg
Ensembl Gene ENSMUSG00000034940
Gene Name synergin, gamma
Synonyms Ap1gbp1, L71-5
MMRRC Submission 040754-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3787 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 83855254-83935404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83892746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 613 (F613S)
Ref Sequence ENSEMBL: ENSMUSP00000138969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049714] [ENSMUST00000092834] [ENSMUST00000183456] [ENSMUST00000183714]
AlphaFold Q5SV85
Predicted Effect possibly damaging
Transcript: ENSMUST00000049714
AA Change: F513S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: F513S

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 possibly damaging
Transcript: ENSMUST00000092834
AA Change: F434S

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: F434S

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: F613S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: F613S

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: F512S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: F512S

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 0.2260 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik G T 5: 139,441,197 (GRCm39) P35Q probably damaging Het
Aoc1 T C 6: 48,882,589 (GRCm39) L177P probably damaging Het
Aprt T C 8: 123,302,268 (GRCm39) D65G probably benign Het
Auh C A 13: 53,083,493 (GRCm39) R62L possibly damaging Het
Bmp4 C T 14: 46,623,171 (GRCm39) probably null Het
Bptf C A 11: 106,964,653 (GRCm39) D1514Y probably damaging Het
Carmil3 T C 14: 55,734,433 (GRCm39) F418S probably damaging Het
Ccdc112 C T 18: 46,432,365 (GRCm39) R72H probably benign Het
Ccdc138 T C 10: 58,374,092 (GRCm39) Y371H probably damaging Het
Chsy3 T C 18: 59,542,070 (GRCm39) Y403H probably damaging Het
Cul4a T C 8: 13,183,668 (GRCm39) V352A probably damaging Het
Dennd3 T C 15: 73,419,426 (GRCm39) V739A possibly damaging Het
Dmxl1 G A 18: 49,998,189 (GRCm39) S763N probably damaging Het
Dmxl2 T C 9: 54,277,162 (GRCm39) D2893G probably damaging Het
Dnah8 A G 17: 30,974,015 (GRCm39) D2800G probably damaging Het
Dnaja2 C T 8: 86,267,015 (GRCm39) G281R probably damaging Het
Exo1 A G 1: 175,727,035 (GRCm39) T449A probably benign Het
Fancd2 T G 6: 113,542,165 (GRCm39) S770A probably damaging Het
Fmo1 A T 1: 162,657,583 (GRCm39) S519R possibly damaging Het
Fryl T C 5: 73,258,819 (GRCm39) Y655C probably benign Het
Gpt2 G T 8: 86,252,202 (GRCm39) V506L probably benign Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Magi2 C T 5: 20,670,907 (GRCm39) T580M probably damaging Het
Mcm9 A G 10: 53,492,076 (GRCm39) V415A possibly damaging Het
Mki67 A T 7: 135,302,012 (GRCm39) N1007K possibly damaging Het
Mpped1 A T 15: 83,680,784 (GRCm39) probably benign Het
Mtpap T C 18: 4,380,670 (GRCm39) V116A probably damaging Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Nfs1 A G 2: 155,970,503 (GRCm39) I270T possibly damaging Het
Nr1i3 A G 1: 171,041,994 (GRCm39) D26G probably damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Or13a28 G A 7: 140,217,748 (GRCm39) V45I probably benign Het
Or8g32 T C 9: 39,305,678 (GRCm39) V197A probably benign Het
Pde4dip G T 3: 97,622,868 (GRCm39) P1447Q possibly damaging Het
Plxna2 A G 1: 194,326,242 (GRCm39) T59A probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r12c G A 7: 4,489,583 (GRCm39) A193V probably damaging Het
Pramel48 T A 5: 95,630,756 (GRCm39) L211Q probably damaging Het
Prdm15 G T 16: 97,598,945 (GRCm39) H904Q probably benign Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Reep1 T A 6: 71,772,199 (GRCm39) D162E probably damaging Het
Rev3l T A 10: 39,722,206 (GRCm39) L2528Q probably damaging Het
Rfc1 A T 5: 65,453,357 (GRCm39) S264T probably benign Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Sipa1l2 C T 8: 126,149,944 (GRCm39) A1602T probably benign Het
Sipa1l2 C A 8: 126,177,122 (GRCm39) C1164F possibly damaging Het
Slc4a1ap T A 5: 31,685,483 (GRCm39) L254I possibly damaging Het
Slc5a3 A G 16: 91,874,816 (GRCm39) N291S possibly damaging Het
Stab2 T A 10: 86,805,141 (GRCm39) D279V possibly damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Tro G A X: 149,438,048 (GRCm39) T203I possibly damaging Het
Txnl4b C T 8: 110,299,409 (GRCm39) A123V probably damaging Het
Vmn1r63 T A 7: 5,805,751 (GRCm39) M294L probably benign Het
Vmn2r58 C T 7: 41,513,498 (GRCm39) D382N probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null 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
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
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'- TGTGGTATTCCCAGGCAGTC -3'
(R):5'- GGGCAGCGCAAACATATTTAAC -3'

Sequencing Primer
(F):5'- GTACTCACTATGTAGACCAGACTGG -3'
(R):5'- TTAACATGTGGAGCAGCATCTGAC -3'
Posted On 2015-03-25