Incidental Mutation 'R0361:Synrg'
ID 30124
Institutional Source Beutler Lab
Gene Symbol Synrg
Ensembl Gene ENSMUSG00000034940
Gene Name synergin, gamma
Synonyms Ap1gbp1, L71-5
MMRRC Submission 038567-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0361 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 83855254-83935404 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 83915163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049714] [ENSMUST00000049714] [ENSMUST00000092834] [ENSMUST00000183456] [ENSMUST00000183456] [ENSMUST00000183714] [ENSMUST00000183714]
AlphaFold Q5SV85
Predicted Effect probably null
Transcript: ENSMUST00000049714
SMART Domains Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940

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 null
Transcript: ENSMUST00000049714
SMART Domains Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940

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 null
Transcript: ENSMUST00000092834
SMART Domains Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940

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 noncoding transcript
Transcript: ENSMUST00000132887
Predicted Effect probably null
Transcript: ENSMUST00000183456
SMART Domains Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940

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 null
Transcript: ENSMUST00000183456
SMART Domains Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940

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 null
Transcript: ENSMUST00000183714
SMART Domains Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940

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
Predicted Effect probably null
Transcript: ENSMUST00000183714
SMART Domains Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184239
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 100% (1/1)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,207,283 (GRCm39) T303P possibly damaging Het
1700010I14Rik G T 17: 9,211,378 (GRCm39) V176L probably benign Het
1700034J05Rik T C 6: 146,853,869 (GRCm39) T262A possibly damaging Het
Adgrl3 A T 5: 81,908,544 (GRCm39) I1165F probably damaging Het
Ankhd1 T C 18: 36,780,267 (GRCm39) I1773T probably damaging Het
Api5 A T 2: 94,253,842 (GRCm39) L287* probably null Het
Apol10b A T 15: 77,469,586 (GRCm39) M197K possibly damaging Het
Bcl2 G A 1: 106,640,424 (GRCm39) R63W probably damaging Het
Cacna1h A G 17: 25,608,396 (GRCm39) M731T probably damaging Het
Cav1 C A 6: 17,339,352 (GRCm39) R146S possibly damaging Het
Cdhr2 A T 13: 54,881,820 (GRCm39) I1118F probably damaging Het
Cdk7 A T 13: 100,848,062 (GRCm39) Y153* probably null Het
Cemip A G 7: 83,613,218 (GRCm39) I660T probably benign Het
Cfap65 A T 1: 74,964,599 (GRCm39) L518Q probably damaging Het
Cgas T A 9: 78,340,534 (GRCm39) K399N probably damaging Het
Cngb3 A G 4: 19,366,467 (GRCm39) H176R probably benign Het
Cstdc4 T C 16: 36,004,648 (GRCm39) S7P probably damaging Het
Cux1 T A 5: 136,308,351 (GRCm39) I1263F probably damaging Het
Dnajc13 A G 9: 104,044,258 (GRCm39) M1867T probably benign Het
Dock2 A G 11: 34,388,327 (GRCm39) L202P probably damaging Het
Dyrk3 A G 1: 131,057,769 (GRCm39) S100P probably benign Het
Efr3b A T 12: 4,027,923 (GRCm39) S376T probably benign Het
Eps8l2 A C 7: 140,936,112 (GRCm39) N222T probably benign Het
Ermp1 A T 19: 29,608,806 (GRCm39) Y158N probably damaging Het
Fam13a A G 6: 58,964,159 (GRCm39) V91A probably benign Het
Fat3 A G 9: 15,909,699 (GRCm39) V2101A possibly damaging Het
Fsip2 T C 2: 82,805,849 (GRCm39) S723P possibly damaging Het
Garem1 G T 18: 21,432,801 (GRCm39) C9* probably null Het
Gdpd5 A G 7: 99,107,997 (GRCm39) I530V possibly damaging Het
Gm15217 T A 14: 46,617,841 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,289 (GRCm39) T478A probably benign Het
H2-M5 A G 17: 37,298,328 (GRCm39) I329T possibly damaging Het
Ing4 G A 6: 125,024,857 (GRCm39) C200Y probably damaging Het
Kcnip1 A T 11: 33,793,177 (GRCm39) M5K probably benign Het
Kdsr T C 1: 106,675,517 (GRCm39) E102G probably damaging Het
Krt15 C T 11: 100,024,007 (GRCm39) V346M probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc55 A T 2: 85,026,589 (GRCm39) M145K probably damaging Het
Lrrtm2 A G 18: 35,345,985 (GRCm39) I439T probably benign Het
Map2k6 T C 11: 110,390,335 (GRCm39) F290L probably damaging Het
Me1 T A 9: 86,533,055 (GRCm39) I136F probably damaging Het
Mfap2 A G 4: 140,742,294 (GRCm39) D98G probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mst1 T C 9: 107,962,096 (GRCm39) F696L probably damaging Het
Mta1 A G 12: 113,096,961 (GRCm39) probably null Het
Myh15 A T 16: 48,934,368 (GRCm39) N645I probably benign Het
Myo7b T A 18: 32,147,262 (GRCm39) I94F probably damaging Het
Nefh A T 11: 4,890,799 (GRCm39) S607T probably benign Het
Noa1 G A 5: 77,445,020 (GRCm39) Q600* probably null Het
Nr2f2 A G 7: 70,007,810 (GRCm39) V71A possibly damaging Het
Oas2 A T 5: 120,876,466 (GRCm39) F492L probably damaging Het
Olfm3 T A 3: 114,914,622 (GRCm39) D211E probably damaging Het
Or2y17 A T 11: 49,231,641 (GRCm39) Y94F probably benign Het
Osmr A G 15: 6,871,432 (GRCm39) probably null Het
Plagl2 A T 2: 153,073,523 (GRCm39) D459E probably benign Het
Plch2 T C 4: 155,091,168 (GRCm39) D148G possibly damaging Het
Plxnc1 C A 10: 94,700,869 (GRCm39) C605F probably damaging Het
Ppm1m T C 9: 106,075,325 (GRCm39) E108G probably damaging Het
Prr14l A C 5: 32,950,985 (GRCm39) L1936R probably damaging Het
Ralgapa1 A G 12: 55,723,354 (GRCm39) I1771T possibly damaging Het
Rhobtb2 T C 14: 70,033,357 (GRCm39) T538A probably benign Het
Rictor A G 15: 6,813,588 (GRCm39) N1025D possibly damaging Het
Sec23a T G 12: 59,037,804 (GRCm39) D324A probably damaging Het
Srgap1 A T 10: 121,883,097 (GRCm39) M1K probably null Het
Syne2 T A 12: 75,965,384 (GRCm39) F801I probably benign Het
Tas2r140 T G 6: 40,468,232 (GRCm39) F21V probably benign Het
Tmem260 A T 14: 48,689,504 (GRCm39) T108S possibly damaging Het
Trim2 T C 3: 84,098,083 (GRCm39) Y406C probably damaging Het
Ttn T C 2: 76,673,746 (GRCm39) probably benign Het
Vmn1r53 A T 6: 90,201,064 (GRCm39) S87T possibly damaging Het
Vmn2r115 T A 17: 23,564,196 (GRCm39) Y123N probably benign Het
Vmn2r28 T A 7: 5,496,715 (GRCm39) I46F probably benign Het
Zan T C 5: 137,395,028 (GRCm39) T4381A unknown Het
Zfp457 A G 13: 67,440,710 (GRCm39) F622L probably damaging Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign Het
Zfy1 T C Y: 726,121 (GRCm39) H548R possibly damaging Het
Zmym4 A T 4: 126,804,938 (GRCm39) S441T probably benign 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
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'- GGAGTCTTCCATGCCCTTTGTAGTG -3'
(R):5'- TGCCCATGCAGAGACAAGCCTAAG -3'

Sequencing Primer
(F):5'- CCATGCCCTTTGTAGTGAGATG -3'
(R):5'- gagggaaggaaggaaggaag -3'
Posted On 2013-04-24