Incidental Mutation 'R2151:Magi3'
ID 234248
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 040154-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.435) question?
Stock # R2151 (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 103992554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 306 (Y306C)
Ref Sequence ENSEMBL: ENSMUSP00000113713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064371] [ENSMUST00000121198] [ENSMUST00000122303]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000064371
AA Change: Y306C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539
AA Change: Y306C

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: Y306C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: Y306C

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: Y306C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539
AA Change: Y306C

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
Meta Mutation Damage Score 0.4776 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (91/91)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,954,725 (GRCm39) probably null Het
4930579F01Rik A G 3: 137,882,217 (GRCm39) probably null Het
Abhd17c G T 7: 83,800,663 (GRCm39) H130Q probably damaging Het
Actr10 T A 12: 70,987,575 (GRCm39) C27* probably null Het
Als2 G A 1: 59,246,948 (GRCm39) H564Y probably damaging Het
Anxa2r1 C T 13: 120,496,335 (GRCm39) C178Y unknown Het
Art5 A G 7: 101,747,407 (GRCm39) L124P possibly damaging Het
Asap2 A T 12: 21,162,084 (GRCm39) T14S probably damaging Het
Atp2c2 A G 8: 120,482,841 (GRCm39) N901S probably benign Het
Bicd2 G T 13: 49,533,052 (GRCm39) C546F probably damaging Het
Ccn3 G A 15: 54,615,854 (GRCm39) A340T probably benign Het
Cnbp C T 6: 87,822,281 (GRCm39) G81D probably damaging Het
Dnah5 T C 15: 28,444,237 (GRCm39) Y4012H probably damaging Het
Dok5 G A 2: 170,642,816 (GRCm39) G38D probably damaging Het
Drc3 A T 11: 60,265,983 (GRCm39) E224V probably benign Het
Ehd2 T C 7: 15,686,128 (GRCm39) K315E probably damaging Het
Eif6 A T 2: 155,664,810 (GRCm39) N225K probably benign Het
Epg5 T C 18: 78,070,517 (GRCm39) V2264A probably benign Het
Faf2 T C 13: 54,796,220 (GRCm39) F126L probably damaging Het
Fiz1 T C 7: 5,015,880 (GRCm39) S37G possibly damaging Het
Frs3 T C 17: 48,013,987 (GRCm39) S227P probably benign Het
Garin3 A T 11: 46,296,158 (GRCm39) K177* probably null Het
Gm4787 T A 12: 81,423,993 (GRCm39) I722F probably benign Het
Gm6370 T A 5: 146,430,451 (GRCm39) L212Q probably damaging Het
Gmnc G A 16: 26,779,456 (GRCm39) H142Y possibly damaging Het
Gna15 T C 10: 81,338,738 (GRCm39) Y367C probably damaging Het
Gpr158 G A 2: 21,832,325 (GRCm39) V1142M possibly damaging Het
Gpx6 A G 13: 21,503,141 (GRCm39) K185R probably damaging Het
Hc A C 2: 34,881,115 (GRCm39) probably benign Het
Hdac9 A G 12: 34,440,255 (GRCm39) S375P probably damaging Het
Kat6b A T 14: 21,718,735 (GRCm39) H1138L probably benign Het
Klre1 G A 6: 129,556,996 (GRCm39) E33K possibly damaging Het
Ldhb C A 6: 142,444,396 (GRCm39) V86L possibly damaging Het
Maco1 A G 4: 134,538,534 (GRCm39) V470A probably benign Het
Minar1 T G 9: 89,484,221 (GRCm39) K392T possibly damaging Het
Mmp17 T C 5: 129,682,725 (GRCm39) Y455H probably benign Het
Mmp25 T A 17: 23,850,048 (GRCm39) Y504F probably damaging Het
Myo1a T C 10: 127,556,050 (GRCm39) I969T probably benign Het
Nedd4l T A 18: 65,343,401 (GRCm39) H820Q probably damaging Het
Nf1 T A 11: 79,338,396 (GRCm39) M1136K possibly damaging Het
Nmi T C 2: 51,842,555 (GRCm39) E179G probably damaging Het
Nrros A T 16: 31,962,076 (GRCm39) M611K probably benign Het
Nsd1 A T 13: 55,439,049 (GRCm39) N1692I probably damaging Het
Nuak1 T C 10: 84,245,509 (GRCm39) N112S probably benign Het
Odf2l T C 3: 144,854,785 (GRCm39) Y488H possibly damaging Het
Or4c106 C A 2: 88,683,128 (GRCm39) P278H probably damaging Het
Or8g21 T A 9: 38,906,012 (GRCm39) T240S probably damaging Het
Or8g30 T A 9: 39,230,413 (GRCm39) I166F probably damaging Het
Otop2 A G 11: 115,220,237 (GRCm39) D359G possibly damaging Het
Pi4ka A T 16: 17,185,371 (GRCm39) F243Y probably benign Het
Pnma8b T C 7: 16,679,837 (GRCm39) C274R probably benign Het
Ppp1r42 A G 1: 10,073,572 (GRCm39) V6A probably benign Het
Prrg4 A G 2: 104,669,733 (GRCm39) L128S probably damaging Het
Prss33 C T 17: 24,053,817 (GRCm39) V87M probably damaging Het
Psen2 A G 1: 180,061,229 (GRCm39) V278A probably damaging Het
Ptpn13 C A 5: 103,673,651 (GRCm39) T538K probably damaging Het
Pttg1ip2 C T 5: 5,528,875 (GRCm39) V47I possibly damaging Het
Rad51ap2 A G 12: 11,507,986 (GRCm39) H636R probably benign Het
Rbak A C 5: 143,162,257 (GRCm39) D35E possibly damaging Het
Rbms1 C A 2: 60,592,392 (GRCm39) probably null Het
Rgs7bp T A 13: 105,100,597 (GRCm39) N226I probably damaging Het
Rnf182 T A 13: 43,821,899 (GRCm39) V150E probably benign Het
Sacs A G 14: 61,447,089 (GRCm39) Y3045C probably damaging Het
Scp2 G T 4: 107,921,141 (GRCm39) A23E probably benign Het
Sec16a A T 2: 26,303,757 (GRCm39) probably benign Het
Slc30a5 A T 13: 100,940,457 (GRCm39) H619Q probably damaging Het
Slfn10-ps T A 11: 82,926,511 (GRCm39) noncoding transcript Het
Slmap A G 14: 26,139,402 (GRCm39) Y771H probably damaging Het
Slx T A X: 26,489,689 (GRCm39) probably benign Het
Spns3 C A 11: 72,436,787 (GRCm39) probably benign Het
Stxbp1 T A 2: 32,692,868 (GRCm39) I383F probably damaging Het
Taf3 C T 2: 9,956,377 (GRCm39) E597K possibly damaging Het
Tbcd A G 11: 121,494,457 (GRCm39) Q1006R possibly damaging Het
Tenm4 G T 7: 96,552,054 (GRCm39) V2498F probably damaging Het
Tex2 T C 11: 106,458,161 (GRCm39) probably benign Het
Tkfc A T 19: 10,576,421 (GRCm39) L154Q probably damaging Het
Tmem62 A G 2: 120,817,343 (GRCm39) H257R probably damaging Het
Trpm2 T C 10: 77,768,013 (GRCm39) I829V probably benign Het
Ttc38 A G 15: 85,735,802 (GRCm39) probably null Het
Ttn A T 2: 76,548,757 (GRCm39) Y30135* probably null Het
Ttn A G 2: 76,810,477 (GRCm39) V17A probably benign Het
Ubqlnl A T 7: 103,797,890 (GRCm39) C536S probably benign Het
Vmn1r230 T A 17: 21,067,063 (GRCm39) M84K probably damaging Het
Vmn1r235 G A 17: 21,482,628 (GRCm39) V318I probably benign Het
Vmn2r76 T C 7: 85,879,692 (GRCm39) I203V probably benign Het
Vmn2r97 A T 17: 19,167,584 (GRCm39) R613* probably null Het
Zfp180 A G 7: 23,804,685 (GRCm39) H368R probably damaging Het
Zfp407 T C 18: 84,227,774 (GRCm39) D1945G possibly damaging Het
Zfyve27 G T 19: 42,160,170 (GRCm39) R62L probably benign 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 3 103,954,198 (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'- GTGAAAGCTTAGAGATATTGGCATG -3'
(R):5'- GCCATTCTGTTTTCAACAATGACAG -3'

Sequencing Primer
(F):5'- GCTTAGAGATATTGGCATGAGTAATC -3'
(R):5'- CAGAAACTAGAGAGATGCATTCTG -3'
Posted On 2014-10-01