Incidental Mutation 'R2519:Magi3'
ID 254157
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 040423-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.435) question?
Stock # R2519 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 103920575-104127690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103923081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1212 (E1212G)
Ref Sequence ENSEMBL: ENSMUSP00000112934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064371] [ENSMUST00000121198] [ENSMUST00000122303] [ENSMUST00000145727]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000064371
SMART Domains Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539

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: ENSMUST00000121198
AA Change: E1212G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: E1212G

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: ENSMUST00000122303
SMART Domains Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539

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
Meta Mutation Damage Score 0.0630 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933408J17Rik G A 10: 93,425,450 (GRCm39) probably benign Het
Abtb3 T A 10: 85,487,475 (GRCm39) V981D probably damaging Het
Actn1 A T 12: 80,239,163 (GRCm39) H247Q probably damaging Het
Adgre1 T C 17: 57,717,956 (GRCm39) C323R probably damaging Het
Adgrf2 T A 17: 43,021,298 (GRCm39) I509F probably damaging Het
Aknad1 A T 3: 108,663,784 (GRCm39) T331S probably damaging Het
Aldh1a3 T C 7: 66,072,047 (GRCm39) D39G probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Ankhd1 T G 18: 36,711,596 (GRCm39) probably null Het
Arfgef2 T C 2: 166,723,164 (GRCm39) S1535P probably benign Het
Bicc1 T C 10: 70,766,474 (GRCm39) E916G probably damaging Het
Birc2 A T 9: 7,821,180 (GRCm39) D381E possibly damaging Het
Carnmt1 A G 19: 18,671,075 (GRCm39) I316V probably benign Het
Cdk2ap1rt A G 11: 48,716,950 (GRCm39) I76T probably damaging Het
Chd6 T A 2: 160,871,796 (GRCm39) Y213F possibly damaging Het
Coq7 A T 7: 118,109,371 (GRCm39) W226R unknown Het
Cyp2d9 G A 15: 82,338,719 (GRCm39) probably null Het
Ddx42 T A 11: 106,136,155 (GRCm39) N635K probably damaging Het
Dmtf1 T C 5: 9,179,323 (GRCm39) T292A possibly damaging Het
Dnajb8 T C 6: 88,199,857 (GRCm39) V131A probably benign Het
Dock6 T C 9: 21,727,629 (GRCm39) E1367G possibly damaging Het
Dvl1 T A 4: 155,940,000 (GRCm39) Y377* probably null Het
Eif4g3 T A 4: 137,824,629 (GRCm39) F278Y probably benign Het
Fancg A T 4: 43,008,787 (GRCm39) L150H probably damaging Het
Fastkd5 T C 2: 130,458,114 (GRCm39) T159A possibly damaging Het
Fkrp G T 7: 16,544,877 (GRCm39) Y328* probably null Het
Fmo3 A T 1: 162,785,874 (GRCm39) V372D probably damaging Het
Gsta5 T G 9: 78,211,721 (GRCm39) L161R probably damaging Het
Gtf2h4 C A 17: 35,981,801 (GRCm39) G143W probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmcn1 A T 1: 150,649,571 (GRCm39) Y638* probably null Het
Ighv11-2 T A 12: 114,011,912 (GRCm39) Q101L probably damaging Het
Lgalsl2 A T 7: 5,362,833 (GRCm39) I155F probably damaging Het
Lipf G T 19: 33,942,925 (GRCm39) V78L probably damaging Het
Mfap5 T C 6: 122,502,948 (GRCm39) S75P probably damaging Het
Mn1 C A 5: 111,566,418 (GRCm39) H129Q possibly damaging Het
Morc3 A G 16: 93,659,427 (GRCm39) probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myo5c A G 9: 75,157,718 (GRCm39) I224V probably damaging Het
Nup58 T C 14: 60,460,808 (GRCm39) T486A probably benign Het
Or5m13b A G 2: 85,753,951 (GRCm39) Y113C probably damaging Het
Or8b46 T A 9: 38,450,281 (GRCm39) V30D probably damaging Het
Parp14 A T 16: 35,678,573 (GRCm39) L465Q possibly damaging Het
Pcare C T 17: 72,058,642 (GRCm39) S345N probably damaging Het
Plcd3 A T 11: 102,971,226 (GRCm39) I110N possibly damaging Het
Prx A G 7: 27,217,668 (GRCm39) E862G probably benign Het
Rad50 G A 11: 53,598,012 (GRCm39) probably benign Het
Rbm15 A G 3: 107,238,149 (GRCm39) S750P probably benign Het
Reln C A 5: 22,549,367 (GRCm39) A14S unknown Het
Rph3a T C 5: 121,092,485 (GRCm39) Y372C probably damaging Het
Serpine2 T A 1: 79,777,256 (GRCm39) H187L possibly damaging Het
Slc11a2 T C 15: 100,299,204 (GRCm39) D122G probably damaging Het
Slc25a32 A T 15: 38,959,450 (GRCm39) V289E probably damaging Het
Slc25a46 A T 18: 31,735,814 (GRCm39) S142T probably benign Het
Srm A G 4: 148,675,961 (GRCm39) probably null Het
Srsf5 A G 12: 80,995,870 (GRCm39) D123G probably damaging Het
Stab1 A T 14: 30,876,829 (GRCm39) C832S probably damaging Het
Stab2 A C 10: 86,770,704 (GRCm39) probably benign Het
Suds3 T C 5: 117,233,018 (GRCm39) N282S probably damaging Het
Taar9 A T 10: 23,985,152 (GRCm39) V94E probably damaging Het
Taf2 C A 15: 54,915,643 (GRCm39) A428S probably benign Het
Tbk1 G T 10: 121,393,164 (GRCm39) T462K probably benign Het
Tcaf2 T G 6: 42,606,365 (GRCm39) I530L possibly damaging Het
Tigd4 A G 3: 84,501,221 (GRCm39) Y46C probably damaging Het
Topors G T 4: 40,261,714 (GRCm39) Y523* probably null Het
Tpte T C 8: 22,823,176 (GRCm39) probably benign Het
Trpv5 T A 6: 41,651,284 (GRCm39) Q254L probably damaging Het
Trpv6 G A 6: 41,601,550 (GRCm39) Q457* probably null Het
Ush2a A T 1: 187,999,304 (GRCm39) M205L probably benign Het
Vmn1r90 A T 7: 14,295,643 (GRCm39) Y152N probably damaging Het
Vmn2r124 T A 17: 18,294,280 (GRCm39) V789D probably damaging Het
Vmn2r99 T C 17: 19,598,970 (GRCm39) I218T probably damaging Het
Vstm2b T C 7: 40,552,299 (GRCm39) V248A probably benign Het
Wnk2 T C 13: 49,224,505 (GRCm39) K1019E probably damaging Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp229 T A 17: 21,964,568 (GRCm39) F266Y possibly damaging Het
Zfp616 T A 11: 73,975,094 (GRCm39) C454* probably null 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
R1964:Magi3 UTSW 3 103,927,718 (GRCm39) missense probably damaging 0.99
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
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'- AATGGTGAGCCGACCTTTAC -3'
(R):5'- TTCTGCTTCCACATTTGAAGAGTC -3'

Sequencing Primer
(F):5'- ATGGTGAGCCGACCTTTACTTTCTC -3'
(R):5'- CATTTGAAGAGTCTCATGTGCCAGC -3'
Posted On 2014-12-04