Incidental Mutation 'R9644:Synrg'
ID 726161
Institutional Source Beutler Lab
Gene Symbol Synrg
Ensembl Gene ENSMUSG00000034940
Gene Name synergin, gamma
Synonyms Ap1gbp1, L71-5
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9644 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 83855254-83935404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83910696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 876 (L876S)
Ref Sequence ENSEMBL: ENSMUSP00000090510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049714] [ENSMUST00000092834] [ENSMUST00000183456] [ENSMUST00000183714]
AlphaFold Q5SV85
Predicted Effect probably damaging
Transcript: ENSMUST00000049714
AA Change: L1032S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: L1032S

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: L876S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: L876S

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: L1055S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: L1055S

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: L954S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: L954S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot7 C A 4: 152,270,752 (GRCm39) S32* probably null Het
Adam34 T A 8: 44,104,766 (GRCm39) H293L probably damaging Het
Adgrl3 A G 5: 81,872,036 (GRCm39) N910S probably damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Ankrd36 A G 11: 5,593,835 (GRCm39) D480G possibly damaging Het
Aox4 T A 1: 58,267,278 (GRCm39) D185E probably benign Het
Apol8 C A 15: 77,633,695 (GRCm39) V294L probably damaging Het
Arsk G A 13: 76,220,227 (GRCm39) A289V probably damaging Het
Atg101 A G 15: 101,188,447 (GRCm39) D184G probably benign Het
Atp10b C T 11: 43,042,659 (GRCm39) T73I probably damaging Het
Ccn4 T G 15: 66,784,785 (GRCm39) C153G Het
Ccser2 A T 14: 36,601,150 (GRCm39) N411K possibly damaging Het
Cct5 A G 15: 31,601,845 (GRCm39) S3P probably benign Het
Chn1 A T 2: 73,490,184 (GRCm39) I31K probably benign Het
Clec2e T A 6: 129,070,443 (GRCm39) I193L probably benign Het
Crim1 G A 17: 78,587,497 (GRCm39) G201R probably damaging Het
Ctrc A G 4: 141,572,336 (GRCm39) V68A probably damaging Het
Dennd4c T A 4: 86,713,363 (GRCm39) I438N probably damaging Het
Dnah5 T A 15: 28,230,650 (GRCm39) W183R probably damaging Het
Dnali1 T A 4: 124,950,402 (GRCm39) I253F probably damaging Het
Dyrk1b T C 7: 27,881,790 (GRCm39) L83P probably damaging Het
Emx2 T C 19: 59,452,427 (GRCm39) I237T probably benign Het
Enpp3 C T 10: 24,685,801 (GRCm39) R198K probably damaging Het
Epb41l1 C T 2: 156,367,165 (GRCm39) P678L possibly damaging Het
Epm2aip1 C T 9: 111,102,137 (GRCm39) T370I probably damaging Het
Fam184a T G 10: 53,573,342 (GRCm39) Q346P probably damaging Het
Foxi2 A C 7: 135,013,727 (GRCm39) H319P possibly damaging Het
Gatad1 A G 5: 3,691,442 (GRCm39) V250A possibly damaging Het
Gmeb1 T C 4: 131,959,440 (GRCm39) I205V probably benign Het
Gucy2g C G 19: 55,219,537 (GRCm39) V362L probably benign Het
Hace1 T C 10: 45,526,001 (GRCm39) S281P probably benign Het
Helz C A 11: 107,563,687 (GRCm39) A1709D unknown Het
Igf2bp2 T A 16: 21,902,735 (GRCm39) N115Y probably damaging Het
Igkv4-86 C T 6: 68,887,593 (GRCm39) V49I probably benign Het
Kdm2b A T 5: 123,120,842 (GRCm39) V101E probably damaging Het
Kidins220 A G 12: 25,061,018 (GRCm39) D790G probably damaging Het
Kif18a A G 2: 109,171,517 (GRCm39) T865A probably benign Het
Kif1b A G 4: 149,375,836 (GRCm39) V10A probably damaging Het
Kmt2d A T 15: 98,743,385 (GRCm39) M3925K unknown Het
Mcee G T 7: 64,061,730 (GRCm39) A178S possibly damaging Het
Megf10 A T 18: 57,375,773 (GRCm39) H233L probably benign Het
Meox1 T A 11: 101,769,482 (GRCm39) E238V probably benign Het
Myo5a G A 9: 75,043,631 (GRCm39) G207R probably damaging Het
Nemf T A 12: 69,359,436 (GRCm39) N966I possibly damaging Het
Or10q3 T C 19: 11,848,574 (GRCm39) E2G probably benign Het
Or1j14 A T 2: 36,417,777 (GRCm39) M118L probably damaging Het
Or5b123 G T 19: 13,597,344 (GRCm39) A230S probably benign Het
Or6c204 A G 10: 129,022,738 (GRCm39) I184T possibly damaging Het
Pfas T C 11: 68,883,542 (GRCm39) Q662R probably benign Het
Phf2 G T 13: 49,024,218 (GRCm39) C8* probably null Het
Pkhd1 T A 1: 20,617,690 (GRCm39) N965I probably benign Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Prb1b T A 6: 132,289,218 (GRCm39) Q202L unknown Het
Prdm8 A T 5: 98,333,638 (GRCm39) T402S probably benign Het
Proz T A 8: 13,116,854 (GRCm39) D135E probably benign Het
Prtg T A 9: 72,813,493 (GRCm39) I951K probably damaging Het
Rasgef1b A T 5: 99,380,014 (GRCm39) Y288* probably null Het
Sacs T A 14: 61,443,428 (GRCm39) C1825S probably benign Het
Slc22a12 G C 19: 6,587,673 (GRCm39) P427R probably damaging Het
Slfn3 A G 11: 83,105,728 (GRCm39) Y575C probably damaging Het
St18 C T 1: 6,929,276 (GRCm39) T56I Het
Tchh T C 3: 93,354,666 (GRCm39) C1369R unknown Het
Tet2 G A 3: 133,193,064 (GRCm39) Q457* probably null Het
Thap12 T C 7: 98,364,495 (GRCm39) V221A probably damaging Het
Tor3a T A 1: 156,501,126 (GRCm39) D104V probably damaging Het
Trpc2 T C 7: 101,744,439 (GRCm39) V737A possibly damaging Het
Trpc4 A G 3: 54,129,699 (GRCm39) Y155C probably damaging Het
Tspyl1 T C 10: 34,159,135 (GRCm39) S287P possibly damaging Het
Ube2u TAGAAGAAGAAGAAGAAGAAGAAGAAGA TAGAAGAAGAAGAAGAAGAAGAAGA 4: 100,406,943 (GRCm39) probably benign Het
Ubr2 A G 17: 47,266,706 (GRCm39) probably null Het
Vmn1r238 T A 18: 3,122,635 (GRCm39) T260S 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
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
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'- ACTTCCAGGATTTCACCAGGC -3'
(R):5'- TGGAACATCTATTTCCTGCTAAGC -3'

Sequencing Primer
(F):5'- TTTCACCAGGCAGGACATG -3'
(R):5'- AGGCTGACCTCAAAGTCATGATCTTC -3'
Posted On 2022-09-12