Incidental Mutation 'R1964:Magi3'
ID 217071
Institutional Source Beutler Lab
Gene Symbol Magi3
Ensembl Gene ENSMUSG00000052539
Gene Name membrane associated guanylate kinase, WW and PDZ domain containing 3
Synonyms 4732496O19Rik, 6530407C02Rik
MMRRC Submission 039977-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.435) question?
Stock # R1964 (G1)
Quality Score 180
Status Not validated
Chromosome 3
Chromosomal Location 103920575-104127690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103927718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1023 (V1023A)
Ref Sequence ENSEMBL: ENSMUSP00000113713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064371] [ENSMUST00000121198] [ENSMUST00000122303] [ENSMUST00000145727]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000064371
AA Change: V1023A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539
AA Change: V1023A

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
PDZ 27 108 1.94e-1 SMART
GuKc 114 281 8.56e-10 SMART
WW 297 329 9.14e-12 SMART
WW 343 375 2.47e-8 SMART
PDZ 421 497 1.48e-17 SMART
PDZ 589 659 3.07e-10 SMART
low complexity region 664 674 N/A INTRINSIC
low complexity region 683 698 N/A INTRINSIC
PDZ 737 813 1.34e-15 SMART
PDZ 861 939 7.65e-20 SMART
PDZ 1030 1104 1.55e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121198
AA Change: V1023A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: V1023A

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
PDZ 27 108 1.94e-1 SMART
GuKc 114 281 8.56e-10 SMART
WW 297 329 9.14e-12 SMART
WW 343 375 2.47e-8 SMART
PDZ 421 497 1.48e-17 SMART
PDZ 589 659 3.07e-10 SMART
low complexity region 664 674 N/A INTRINSIC
low complexity region 683 698 N/A INTRINSIC
PDZ 737 813 1.34e-15 SMART
PDZ 861 939 7.65e-20 SMART
PDZ 1030 1104 1.55e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122303
AA Change: V1023A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539
AA Change: V1023A

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
PDZ 27 108 1.94e-1 SMART
GuKc 114 281 8.56e-10 SMART
WW 297 329 9.14e-12 SMART
WW 343 375 2.47e-8 SMART
PDZ 421 497 1.48e-17 SMART
PDZ 589 659 3.07e-10 SMART
low complexity region 664 674 N/A INTRINSIC
low complexity region 683 698 N/A INTRINSIC
PDZ 737 813 1.34e-15 SMART
PDZ 861 939 7.65e-20 SMART
PDZ 1030 1104 1.55e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145727
SMART Domains Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 3 158 1.6e-88 PFAM
low complexity region 170 181 N/A INTRINSIC
low complexity region 347 370 N/A INTRINSIC
transmembrane domain 473 492 N/A INTRINSIC
transmembrane domain 512 534 N/A INTRINSIC
transmembrane domain 610 632 N/A INTRINSIC
transmembrane domain 647 664 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,211,324 (GRCm39) H158Y probably damaging Het
1810009J06Rik T A 6: 40,945,141 (GRCm39) C207S probably damaging Het
Aadac T A 3: 59,944,759 (GRCm39) probably null Het
Abca6 T A 11: 110,075,502 (GRCm39) I1330F probably damaging Het
Adar A T 3: 89,653,202 (GRCm39) S263C probably benign Het
Adra2b T C 2: 127,205,734 (GRCm39) Y84H probably damaging Het
Arnt2 A T 7: 83,992,997 (GRCm39) V181E possibly damaging Het
Atg7 T C 6: 114,683,191 (GRCm39) L418P probably damaging Het
Atp2c1 A G 9: 105,323,322 (GRCm39) L181P probably damaging Het
Awat2 G A X: 99,448,165 (GRCm39) P148S probably damaging Het
Birc6 A G 17: 74,941,880 (GRCm39) M2737V possibly damaging Het
Ccdc81 A G 7: 89,535,361 (GRCm39) C292R probably benign Het
Cd14 T A 18: 36,859,392 (GRCm39) E21V probably damaging Het
Cdc14b A C 13: 64,363,351 (GRCm39) C303W probably damaging Het
Cdh23 T C 10: 60,221,001 (GRCm39) I1248V probably benign Het
Ceacam1 T C 7: 25,174,133 (GRCm39) D174G probably benign Het
Cgas T G 9: 78,344,737 (GRCm39) Y228S probably damaging Het
Chd7 A G 4: 8,865,978 (GRCm39) M717V probably damaging Het
Cib1 T C 7: 79,882,120 (GRCm39) T20A possibly damaging Het
Clec4d A G 6: 123,239,319 (GRCm39) K9R probably benign Het
Cntnap1 C A 11: 101,068,850 (GRCm39) S131* probably null Het
Crybg1 T C 10: 43,834,326 (GRCm39) K1581R probably damaging Het
Csf2 T G 11: 54,139,284 (GRCm39) T100P probably benign Het
Csrp2 T A 10: 110,767,894 (GRCm39) D26E probably benign Het
Cul1 T C 6: 47,479,505 (GRCm39) V257A probably damaging Het
Cul4a G A 8: 13,186,406 (GRCm39) M505I possibly damaging Het
Cul4a T C 8: 13,186,854 (GRCm39) M530T probably benign Het
Dcp2 T C 18: 44,529,038 (GRCm39) M51T possibly damaging Het
Ddx60 T A 8: 62,401,903 (GRCm39) C260S probably benign Het
Dennd2c G A 3: 103,073,807 (GRCm39) R851H probably damaging Het
Dnah11 T C 12: 118,106,027 (GRCm39) E625G possibly damaging Het
Edem1 T C 6: 108,821,908 (GRCm39) W322R probably benign Het
Egflam T C 15: 7,276,586 (GRCm39) T527A probably damaging Het
Ephb1 T A 9: 101,848,322 (GRCm39) M659L possibly damaging Het
Fbxl2 A G 9: 113,818,237 (GRCm39) I203T probably benign Het
Gabbr1 G A 17: 37,359,351 (GRCm39) G109R probably damaging Het
Gabra2 T C 5: 71,171,793 (GRCm39) I148V possibly damaging Het
Golga1 A G 2: 38,937,099 (GRCm39) V161A probably benign Het
Gps2 T G 11: 69,807,246 (GRCm39) S301A probably benign Het
H2-D1 T C 17: 35,482,595 (GRCm39) L105P probably benign Het
Igdcc4 T C 9: 65,030,051 (GRCm39) V367A probably benign Het
Igkv4-69 T G 6: 69,260,782 (GRCm39) Y115S probably benign Het
Itga5 A G 15: 103,262,741 (GRCm39) L309P probably damaging Het
Itih1 A G 14: 30,651,580 (GRCm39) Y871H probably damaging Het
Itpr2 T A 6: 146,013,191 (GRCm39) N2662I probably damaging Het
Kctd19 T A 8: 106,115,102 (GRCm39) E486D probably damaging Het
Kif5b C T 18: 6,209,059 (GRCm39) R901Q possibly damaging Het
Kmt2a G A 9: 44,731,941 (GRCm39) S2792F probably benign Het
Mapk9 C A 11: 49,745,160 (GRCm39) R25S probably null Het
Memo1 T C 17: 74,552,003 (GRCm39) T98A possibly damaging Het
Mill2 A G 7: 18,590,529 (GRCm39) K203R probably damaging Het
Mios T A 6: 8,215,798 (GRCm39) H331Q probably damaging Het
Muc6 G T 7: 141,226,329 (GRCm39) S1566* probably null Het
Muc6 A G 7: 141,226,330 (GRCm39) probably benign Het
Napsa T C 7: 44,231,109 (GRCm39) F113L probably benign Het
Or5ac16 T A 16: 59,022,271 (GRCm39) I173F possibly damaging Het
Or9m1 A G 2: 87,734,011 (GRCm39) V3A probably benign Het
Oscp1 T G 4: 125,977,415 (GRCm39) V226G possibly damaging Het
Osgin2 G T 4: 15,998,358 (GRCm39) S421R probably damaging Het
Pclaf A G 9: 65,800,677 (GRCm39) N50D probably damaging Het
Pdgfc A T 3: 81,082,292 (GRCm39) I162F probably benign Het
Plag1 T C 4: 3,903,956 (GRCm39) T412A probably benign Het
Pogz A T 3: 94,785,504 (GRCm39) T820S probably benign Het
Ptpn9 T A 9: 56,967,196 (GRCm39) V473D probably damaging Het
Qdpr A T 5: 45,596,660 (GRCm39) M66K possibly damaging Het
Qrich1 A G 9: 108,411,621 (GRCm39) N382S possibly damaging Het
Rbbp8 T C 18: 11,875,736 (GRCm39) V883A possibly damaging Het
Rgl1 T A 1: 152,424,855 (GRCm39) I375F probably damaging Het
Rif1 C T 2: 51,988,421 (GRCm39) T720I probably benign Het
Rilp A T 11: 75,401,328 (GRCm39) Q95L probably benign Het
Rnf169 T A 7: 99,574,732 (GRCm39) N621I probably damaging Het
Rps27a T C 11: 29,497,229 (GRCm39) K27R probably null Het
Sar1a T C 10: 61,520,947 (GRCm39) V54A probably benign Het
Sash1 T A 10: 8,605,477 (GRCm39) H971L probably benign Het
Sdk2 G A 11: 113,671,843 (GRCm39) Q2102* probably null Het
Serpina1e T A 12: 103,917,466 (GRCm39) I68F probably damaging Het
Serpinb9e A C 13: 33,437,474 (GRCm39) Q119P probably benign Het
Sh3tc2 A T 18: 62,124,226 (GRCm39) K965* probably null Het
Slc16a1 A T 3: 104,556,782 (GRCm39) S56C probably damaging Het
Slc26a11 T A 11: 119,271,020 (GRCm39) L563Q possibly damaging Het
Smarca2 G T 19: 26,650,124 (GRCm39) E24* probably null Het
Smgc G A 15: 91,744,468 (GRCm39) G239D probably damaging Het
Sos2 A T 12: 69,663,636 (GRCm39) M616K possibly damaging Het
Tet1 T A 10: 62,648,726 (GRCm39) D1902V possibly damaging Het
Thap2 C T 10: 115,220,152 (GRCm39) C10Y probably damaging Het
Tln2 T C 9: 67,249,417 (GRCm39) D890G probably benign Het
Tor2a G A 2: 32,648,716 (GRCm39) G62D probably damaging Het
Ubqln5 A T 7: 103,778,095 (GRCm39) V243E possibly damaging Het
Utrn A T 10: 12,560,181 (GRCm39) D1369E probably damaging Het
Vcan A G 13: 89,840,861 (GRCm39) V1561A probably benign Het
Vmn1r70 T C 7: 10,367,737 (GRCm39) F56S possibly damaging Het
Vmn2r25 A G 6: 123,800,254 (GRCm39) L696S possibly damaging Het
Washc2 A G 6: 116,185,948 (GRCm39) T53A probably damaging Het
Wnk1 T A 6: 119,911,343 (GRCm39) T2417S possibly damaging Het
Zbtb49 A T 5: 38,361,105 (GRCm39) C12* probably null Het
Zfp472 C A 17: 33,196,848 (GRCm39) P308T possibly damaging Het
Other mutations in Magi3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Magi3 APN 3 103,922,294 (GRCm39) missense probably damaging 1.00
IGL00933:Magi3 APN 3 103,923,163 (GRCm39) missense probably benign
IGL01151:Magi3 APN 3 103,958,690 (GRCm39) missense probably damaging 1.00
IGL01674:Magi3 APN 3 104,013,037 (GRCm39) splice site probably benign
IGL01790:Magi3 APN 3 103,992,560 (GRCm39) missense probably damaging 1.00
IGL01903:Magi3 APN 3 103,958,526 (GRCm39) missense possibly damaging 0.87
IGL01939:Magi3 APN 3 103,961,778 (GRCm39) missense probably damaging 0.99
IGL02142:Magi3 APN 3 103,923,219 (GRCm39) missense probably benign 0.32
IGL02183:Magi3 APN 3 103,992,663 (GRCm39) missense probably benign 0.01
IGL02887:Magi3 APN 3 104,002,473 (GRCm39) missense probably damaging 1.00
IGL03071:Magi3 APN 3 103,923,202 (GRCm39) missense possibly damaging 0.51
IGL03085:Magi3 APN 3 103,922,655 (GRCm39) missense possibly damaging 0.88
IGL03192:Magi3 APN 3 103,950,562 (GRCm39) missense probably damaging 1.00
IGL03204:Magi3 APN 3 104,013,151 (GRCm39) missense probably damaging 1.00
IGL03227:Magi3 APN 3 103,958,435 (GRCm39) missense probably benign
IGL03388:Magi3 APN 3 103,923,157 (GRCm39) missense probably benign 0.30
PIT4280001:Magi3 UTSW 3 103,961,668 (GRCm39) missense probably damaging 1.00
PIT4504001:Magi3 UTSW 3 103,922,842 (GRCm39) missense probably benign 0.05
R0092:Magi3 UTSW 3 103,958,280 (GRCm39) nonsense probably null
R0514:Magi3 UTSW 3 103,922,338 (GRCm39) missense probably damaging 1.00
R0569:Magi3 UTSW 3 103,923,358 (GRCm39) missense probably benign 0.43
R0608:Magi3 UTSW 3 103,924,873 (GRCm39) missense probably damaging 1.00
R0920:Magi3 UTSW 3 103,941,507 (GRCm39) splice site probably null
R1173:Magi3 UTSW 3 103,968,946 (GRCm39) critical splice donor site probably null
R1256:Magi3 UTSW 3 103,935,126 (GRCm39) missense probably benign 0.08
R1391:Magi3 UTSW 3 103,922,374 (GRCm39) nonsense probably null
R1559:Magi3 UTSW 3 103,954,169 (GRCm39) splice site probably benign
R1568:Magi3 UTSW 3 103,996,843 (GRCm39) missense probably benign 0.02
R1631:Magi3 UTSW 3 103,958,493 (GRCm39) missense probably benign 0.05
R1747:Magi3 UTSW 3 103,941,489 (GRCm39) missense possibly damaging 0.82
R1930:Magi3 UTSW 3 103,996,920 (GRCm39) missense probably damaging 1.00
R2151:Magi3 UTSW 3 103,992,554 (GRCm39) missense probably damaging 1.00
R2151:Magi3 UTSW 3 103,954,198 (GRCm39) missense probably damaging 1.00
R2266:Magi3 UTSW 3 103,928,382 (GRCm39) intron probably benign
R2267:Magi3 UTSW 3 103,928,382 (GRCm39) intron probably benign
R2268:Magi3 UTSW 3 103,928,382 (GRCm39) intron probably benign
R2519:Magi3 UTSW 3 103,923,081 (GRCm39) missense probably benign 0.00
R3104:Magi3 UTSW 3 103,958,636 (GRCm39) missense probably damaging 0.99
R3105:Magi3 UTSW 3 103,958,636 (GRCm39) missense probably damaging 0.99
R3619:Magi3 UTSW 3 103,961,721 (GRCm39) missense probably damaging 1.00
R4158:Magi3 UTSW 3 103,958,277 (GRCm39) missense probably damaging 1.00
R4160:Magi3 UTSW 3 103,958,277 (GRCm39) missense probably damaging 1.00
R4284:Magi3 UTSW 3 103,923,184 (GRCm39) nonsense probably null
R4285:Magi3 UTSW 3 103,923,184 (GRCm39) nonsense probably null
R4397:Magi3 UTSW 3 104,127,030 (GRCm39) missense probably damaging 1.00
R4512:Magi3 UTSW 3 103,996,871 (GRCm39) missense probably damaging 0.99
R4676:Magi3 UTSW 3 103,923,141 (GRCm39) missense probably benign
R4758:Magi3 UTSW 3 103,922,637 (GRCm39) missense probably benign 0.01
R4940:Magi3 UTSW 3 103,958,708 (GRCm39) missense probably damaging 1.00
R5039:Magi3 UTSW 3 104,013,107 (GRCm39) missense probably damaging 1.00
R5160:Magi3 UTSW 3 103,935,224 (GRCm39) missense possibly damaging 0.46
R5422:Magi3 UTSW 3 103,958,684 (GRCm39) missense probably damaging 1.00
R5509:Magi3 UTSW 3 103,922,818 (GRCm39) missense probably benign 0.00
R5839:Magi3 UTSW 3 104,127,047 (GRCm39) missense probably damaging 1.00
R5924:Magi3 UTSW 3 103,961,854 (GRCm39) splice site probably null
R6018:Magi3 UTSW 3 104,013,128 (GRCm39) missense probably damaging 1.00
R6189:Magi3 UTSW 3 103,958,181 (GRCm39) missense probably damaging 1.00
R6235:Magi3 UTSW 3 103,923,384 (GRCm39) missense probably damaging 0.99
R6244:Magi3 UTSW 3 103,923,013 (GRCm39) missense probably benign 0.16
R6258:Magi3 UTSW 3 103,996,912 (GRCm39) missense probably damaging 1.00
R6358:Magi3 UTSW 3 103,958,268 (GRCm39) missense probably damaging 1.00
R6534:Magi3 UTSW 3 103,992,536 (GRCm39) missense possibly damaging 0.75
R6806:Magi3 UTSW 3 103,954,285 (GRCm39) missense possibly damaging 0.94
R6816:Magi3 UTSW 3 103,997,227 (GRCm39) splice site probably null
R6897:Magi3 UTSW 3 103,996,873 (GRCm39) missense probably damaging 1.00
R7011:Magi3 UTSW 3 104,013,070 (GRCm39) missense probably damaging 1.00
R7039:Magi3 UTSW 3 103,958,699 (GRCm39) missense probably damaging 1.00
R7196:Magi3 UTSW 3 103,956,484 (GRCm39) missense probably benign 0.01
R7237:Magi3 UTSW 3 103,935,227 (GRCm39) missense probably damaging 1.00
R7285:Magi3 UTSW 3 103,941,430 (GRCm39) missense probably benign 0.00
R7709:Magi3 UTSW 3 103,941,354 (GRCm39) missense probably damaging 1.00
R7724:Magi3 UTSW 3 103,923,243 (GRCm39) missense probably benign 0.04
R7797:Magi3 UTSW 3 103,958,618 (GRCm39) missense probably damaging 1.00
R7950:Magi3 UTSW 3 103,924,005 (GRCm39) missense probably damaging 1.00
R8140:Magi3 UTSW 3 103,941,402 (GRCm39) missense probably damaging 1.00
R8204:Magi3 UTSW 3 103,958,502 (GRCm39) missense probably benign
R8229:Magi3 UTSW 3 103,923,018 (GRCm39) missense probably benign 0.00
R8229:Magi3 UTSW 3 103,923,017 (GRCm39) missense possibly damaging 0.79
R8260:Magi3 UTSW 3 103,922,625 (GRCm39) missense probably benign 0.01
R8348:Magi3 UTSW 3 103,958,531 (GRCm39) missense probably damaging 1.00
R8368:Magi3 UTSW 3 104,002,379 (GRCm39) critical splice donor site probably null
R8543:Magi3 UTSW 3 104,126,984 (GRCm39) missense probably damaging 0.98
R8762:Magi3 UTSW 3 103,958,169 (GRCm39) missense probably damaging 1.00
R8826:Magi3 UTSW 3 103,992,662 (GRCm39) missense probably benign 0.00
R8847:Magi3 UTSW 3 103,922,334 (GRCm39) missense probably benign 0.09
R8892:Magi3 UTSW 3 103,958,141 (GRCm39) missense probably damaging 1.00
R8939:Magi3 UTSW 3 103,996,748 (GRCm39) intron probably benign
R9090:Magi3 UTSW 3 103,923,264 (GRCm39) missense possibly damaging 0.68
R9187:Magi3 UTSW 3 103,923,073 (GRCm39) missense possibly damaging 0.76
R9271:Magi3 UTSW 3 103,923,264 (GRCm39) missense possibly damaging 0.68
R9433:Magi3 UTSW 3 103,922,473 (GRCm39) missense probably benign 0.01
R9439:Magi3 UTSW 3 103,922,473 (GRCm39) missense probably benign 0.01
R9557:Magi3 UTSW 3 103,924,933 (GRCm39) missense probably damaging 1.00
R9557:Magi3 UTSW 3 103,922,473 (GRCm39) missense probably benign 0.01
R9697:Magi3 UTSW 3 103,956,458 (GRCm39) critical splice donor site probably null
R9796:Magi3 UTSW 3 103,928,291 (GRCm39) missense probably benign
X0026:Magi3 UTSW 3 103,927,736 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTAAGGGGTTTCTGCATTCCC -3'
(R):5'- TTTATGACAGTTAAGTAGCAGCCC -3'

Sequencing Primer
(F):5'- TCTAGAACTTTCCAGCCTAGAGG -3'
(R):5'- GCCCCAGCTAGCATTCC -3'
Posted On 2014-08-01