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) question?
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

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: T936S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: T936S

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 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

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: T1014S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: T1014S

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: 98.3%
  • 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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