Incidental Mutation 'R0514:Magi3'
ID 48084
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 038708-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.435) question?
Stock # R0514 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 103920575-104127690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103922338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1460 (P1460S)
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 damaging
Transcript: ENSMUST00000121198
AA Change: P1460S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: P1460S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,197,177 (GRCm39) Y154F probably damaging Het
Acsl6 A T 11: 54,241,406 (GRCm39) D579V probably damaging Het
Adamts18 C T 8: 114,465,401 (GRCm39) probably null Het
Adamts20 A T 15: 94,168,257 (GRCm39) V1882D probably damaging Het
Add3 A T 19: 53,225,274 (GRCm39) K465* probably null Het
Ago1 T G 4: 126,333,388 (GRCm39) I524L probably benign Het
Akr1c18 A G 13: 4,187,190 (GRCm39) M208T probably benign Het
Anapc1 C A 2: 128,474,575 (GRCm39) L1413F probably damaging Het
Arid4b A T 13: 14,358,902 (GRCm39) D646V probably damaging Het
Arnt2 T C 7: 83,954,067 (GRCm39) E261G probably benign Het
Bccip C T 7: 133,320,859 (GRCm39) T211I possibly damaging Het
Bsn T C 9: 108,002,981 (GRCm39) S475G probably benign Het
Cdh26 G A 2: 178,108,621 (GRCm39) probably null Het
Ceacam2 A G 7: 25,220,356 (GRCm39) F414S probably benign Het
Cep43 A G 17: 8,410,266 (GRCm39) N342S possibly damaging Het
Cfb T C 17: 35,079,874 (GRCm39) R172G probably damaging Het
Cntnap5b A C 1: 99,700,511 (GRCm39) T8P probably benign Het
Cpne9 A T 6: 113,266,974 (GRCm39) I136L probably damaging Het
Crtc1 A T 8: 70,855,079 (GRCm39) probably null Het
Dcdc2a A T 13: 25,303,369 (GRCm39) H300L probably benign Het
Dhdh C T 7: 45,138,130 (GRCm39) V20M probably benign Het
Dhx34 T C 7: 15,944,462 (GRCm39) Q584R probably benign Het
Dis3l2 A G 1: 86,974,814 (GRCm39) Y701C probably damaging Het
Dmrt2 T C 19: 25,653,019 (GRCm39) probably null Het
Dnah5 A G 15: 28,366,467 (GRCm39) T2727A probably damaging Het
Dop1a A G 9: 86,402,787 (GRCm39) E1329G probably damaging Het
Evpl A G 11: 116,114,117 (GRCm39) V1191A probably damaging Het
Fhl4 T C 10: 84,934,250 (GRCm39) D177G probably damaging Het
Gask1a A G 9: 121,807,418 (GRCm39) T521A possibly damaging Het
Heg1 A G 16: 33,547,126 (GRCm39) T662A possibly damaging Het
Ifih1 A G 2: 62,453,735 (GRCm39) probably null Het
Il13 T C 11: 53,523,345 (GRCm39) R87G possibly damaging Het
Kcnc3 T A 7: 44,245,352 (GRCm39) Y547* probably null Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lama1 G A 17: 68,071,693 (GRCm39) G860D probably benign Het
Lmo7 T C 14: 102,124,609 (GRCm39) L356P probably damaging Het
Lmo7 A T 14: 102,133,995 (GRCm39) K447I probably damaging Het
Lrp2bp A G 8: 46,464,995 (GRCm39) H38R probably damaging Het
Megf8 T A 7: 25,063,728 (GRCm39) C2695S possibly damaging Het
Mrgprb2 T G 7: 48,201,718 (GRCm39) S336R probably benign Het
Mrgprx2 C T 7: 48,132,712 (GRCm39) M1I probably null Het
Mug2 T C 6: 122,058,558 (GRCm39) L1320P probably damaging Het
Noxred1 A G 12: 87,273,838 (GRCm39) S68P probably benign Het
Or51f5 T A 7: 102,424,539 (GRCm39) H269Q probably benign Het
Or56b1b T A 7: 108,164,879 (GRCm39) Y41F probably damaging Het
Os9 C T 10: 126,955,508 (GRCm39) C123Y probably damaging Het
Ostf1 T A 19: 18,573,723 (GRCm39) T42S probably benign Het
Parg C A 14: 31,976,517 (GRCm39) T186K possibly damaging Het
Pcnx1 T A 12: 82,041,884 (GRCm39) M2172K probably benign Het
Pip4k2a A G 2: 18,850,747 (GRCm39) I360T probably damaging Het
Pkn2 T C 3: 142,516,219 (GRCm39) D568G possibly damaging Het
Plch2 A G 4: 155,083,343 (GRCm39) S431P probably damaging Het
Prl8a6 A T 13: 27,616,990 (GRCm39) C233* probably null Het
Prox1 G A 1: 189,893,653 (GRCm39) T264I probably damaging Het
Prr5 A G 15: 84,586,967 (GRCm39) N248S probably benign Het
Psip1 A C 4: 83,378,274 (GRCm39) S407R probably damaging Het
Rab32 A T 10: 10,426,640 (GRCm39) V102E probably damaging Het
Rap1gap2 T G 11: 74,279,680 (GRCm39) K687Q possibly damaging Het
Rbak A T 5: 143,159,169 (GRCm39) V628E probably damaging Het
Rnf148 T C 6: 23,654,792 (GRCm39) E68G possibly damaging Het
Rnf212 A T 5: 108,897,308 (GRCm39) S3T probably damaging Het
Rrad T G 8: 105,355,259 (GRCm39) I250L probably benign Het
Sall4 T C 2: 168,597,625 (GRCm39) H405R probably damaging Het
Scn9a T C 2: 66,314,022 (GRCm39) R1888G probably damaging Het
Setd5 G T 6: 113,096,398 (GRCm39) E535* probably null Het
Slc20a1 C T 2: 129,041,811 (GRCm39) S58L probably damaging Het
Slc31a1 A G 4: 62,303,841 (GRCm39) probably benign Het
Slc38a11 G T 2: 65,147,209 (GRCm39) Q423K probably benign Het
Snrpd1 A T 18: 10,626,846 (GRCm39) T38S possibly damaging Het
Taar4 A G 10: 23,836,780 (GRCm39) D130G probably damaging Het
Tfb2m C T 1: 179,358,869 (GRCm39) R338H probably benign Het
Tm2d2 A G 8: 25,512,742 (GRCm39) I197V possibly damaging Het
Tmem132a C T 19: 10,836,355 (GRCm39) G725D probably damaging Het
Tmem67 T C 4: 12,089,317 (GRCm39) T38A probably benign Het
Tmprss15 A T 16: 78,765,155 (GRCm39) S816T probably benign Het
Tnfrsf11a A G 1: 105,754,717 (GRCm39) E263G probably damaging Het
Tnfrsf17 C T 16: 11,133,191 (GRCm39) L90F probably benign Het
Tpr A G 1: 150,278,024 (GRCm39) K117E possibly damaging Het
Trim43a C T 9: 88,466,389 (GRCm39) Q5* probably null Het
Ubn1 A T 16: 4,890,935 (GRCm39) D498V probably damaging Het
Vipr1 T A 9: 121,487,115 (GRCm39) C63S probably damaging Het
Vmn1r237 T A 17: 21,534,932 (GRCm39) H218Q possibly damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r95 T C 17: 18,671,844 (GRCm39) V527A probably benign Het
Vmn2r97 A T 17: 19,134,734 (GRCm39) T51S probably benign Het
Vwa8 G A 14: 79,184,629 (GRCm39) V376I probably benign Het
Wdfy4 T A 14: 32,802,732 (GRCm39) T1838S probably benign Het
Zcwpw1 A T 5: 137,794,945 (GRCm39) E47V probably benign Het
Zeb2 T C 2: 44,892,659 (GRCm39) E130G possibly damaging Het
Zfp111 A G 7: 23,898,568 (GRCm39) Y348H probably damaging Het
Zfp53 T C 17: 21,729,271 (GRCm39) S435P probably 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
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
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'- TGCTAGGATCATGTCAGGCTGAGG -3'
(R):5'- TCAGCAAAGCAGCTCAAGCAGG -3'

Sequencing Primer
(F):5'- CTCCTTCCTGAGCATGAGGAAAG -3'
(R):5'- AGCTCAAGCAGGAAGCTC -3'
Posted On 2013-06-12