Incidental Mutation 'R2179:Mga'
ID 237035
Institutional Source Beutler Lab
Gene Symbol Mga
Ensembl Gene ENSMUSG00000033943
Gene Name MAX gene associated
Synonyms Mga, C130042M01Rik, Mad5, D030062C11Rik
MMRRC Submission 040181-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R2179 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 119727709-119800062 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119790923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 2479 (S2479T)
Ref Sequence ENSEMBL: ENSMUSP00000106401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046717] [ENSMUST00000079934] [ENSMUST00000110773] [ENSMUST00000110774] [ENSMUST00000156510]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000046717
AA Change: S2440T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043795
Gene: ENSMUSG00000033943
AA Change: S2440T

DomainStartEndE-ValueType
Blast:TBOX 6 73 6e-27 BLAST
TBOX 74 265 2.34e-100 SMART
low complexity region 969 978 N/A INTRINSIC
low complexity region 1017 1031 N/A INTRINSIC
low complexity region 1112 1138 N/A INTRINSIC
low complexity region 1248 1269 N/A INTRINSIC
low complexity region 1301 1315 N/A INTRINSIC
low complexity region 1564 1581 N/A INTRINSIC
low complexity region 1634 1649 N/A INTRINSIC
low complexity region 1681 1716 N/A INTRINSIC
low complexity region 1796 1818 N/A INTRINSIC
low complexity region 1833 1850 N/A INTRINSIC
low complexity region 1977 1992 N/A INTRINSIC
low complexity region 2183 2197 N/A INTRINSIC
low complexity region 2241 2259 N/A INTRINSIC
HLH 2368 2419 8.27e-7 SMART
low complexity region 2748 2769 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000079934
AA Change: S2270T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078853
Gene: ENSMUSG00000033943
AA Change: S2270T

DomainStartEndE-ValueType
Blast:TBOX 6 73 5e-27 BLAST
TBOX 74 265 2.34e-100 SMART
low complexity region 969 978 N/A INTRINSIC
low complexity region 1017 1031 N/A INTRINSIC
low complexity region 1112 1138 N/A INTRINSIC
low complexity region 1247 1268 N/A INTRINSIC
low complexity region 1300 1314 N/A INTRINSIC
low complexity region 1626 1648 N/A INTRINSIC
low complexity region 1663 1680 N/A INTRINSIC
low complexity region 1807 1822 N/A INTRINSIC
low complexity region 2013 2027 N/A INTRINSIC
low complexity region 2071 2089 N/A INTRINSIC
HLH 2198 2249 8.27e-7 SMART
low complexity region 2578 2599 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110773
AA Change: S2361T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106400
Gene: ENSMUSG00000033943
AA Change: S2361T

DomainStartEndE-ValueType
Blast:TBOX 6 73 5e-27 BLAST
TBOX 74 265 2.34e-100 SMART
low complexity region 890 899 N/A INTRINSIC
low complexity region 938 952 N/A INTRINSIC
low complexity region 1033 1059 N/A INTRINSIC
low complexity region 1169 1190 N/A INTRINSIC
low complexity region 1222 1236 N/A INTRINSIC
low complexity region 1485 1502 N/A INTRINSIC
low complexity region 1555 1570 N/A INTRINSIC
low complexity region 1602 1637 N/A INTRINSIC
low complexity region 1717 1739 N/A INTRINSIC
low complexity region 1754 1771 N/A INTRINSIC
low complexity region 1898 1913 N/A INTRINSIC
low complexity region 2104 2118 N/A INTRINSIC
low complexity region 2162 2180 N/A INTRINSIC
HLH 2289 2340 8.27e-7 SMART
low complexity region 2669 2690 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110774
AA Change: S2479T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106401
Gene: ENSMUSG00000033943
AA Change: S2479T

DomainStartEndE-ValueType
Blast:TBOX 6 73 7e-27 BLAST
TBOX 74 265 2.34e-100 SMART
low complexity region 969 978 N/A INTRINSIC
low complexity region 1017 1031 N/A INTRINSIC
Pfam:DUF4801 1037 1085 1e-19 PFAM
low complexity region 1112 1138 N/A INTRINSIC
low complexity region 1248 1269 N/A INTRINSIC
low complexity region 1301 1315 N/A INTRINSIC
low complexity region 1564 1581 N/A INTRINSIC
low complexity region 1634 1649 N/A INTRINSIC
low complexity region 1681 1716 N/A INTRINSIC
low complexity region 1835 1857 N/A INTRINSIC
low complexity region 1872 1889 N/A INTRINSIC
low complexity region 2016 2031 N/A INTRINSIC
low complexity region 2222 2236 N/A INTRINSIC
low complexity region 2280 2298 N/A INTRINSIC
HLH 2407 2458 8.27e-7 SMART
low complexity region 2787 2808 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131396
Predicted Effect possibly damaging
Transcript: ENSMUST00000156510
AA Change: S2270T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119044
Gene: ENSMUSG00000033943
AA Change: S2270T

DomainStartEndE-ValueType
Blast:TBOX 6 73 4e-27 BLAST
TBOX 74 265 2.34e-100 SMART
low complexity region 969 978 N/A INTRINSIC
low complexity region 1017 1031 N/A INTRINSIC
low complexity region 1112 1138 N/A INTRINSIC
low complexity region 1247 1268 N/A INTRINSIC
low complexity region 1300 1314 N/A INTRINSIC
low complexity region 1626 1648 N/A INTRINSIC
low complexity region 1663 1680 N/A INTRINSIC
low complexity region 1807 1822 N/A INTRINSIC
low complexity region 2013 2027 N/A INTRINSIC
low complexity region 2071 2089 N/A INTRINSIC
HLH 2198 2249 8.27e-7 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Embryos homozygous for a gene trap allele die shortly after implantation due to defective development of the inner cell mass (ICM) and the epiblast. ICM derivatives fail to develop past E4.5 and show increased apoptosis but no change in cell proliferation. [provided by MGI curators]
Allele List at MGI

All alleles(135) : Gene trapped(135)

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,271,018 (GRCm39) D849G possibly damaging Het
Amz2 A G 11: 109,320,658 (GRCm39) H155R probably damaging Het
Cfhr4 G T 1: 139,659,279 (GRCm39) P679Q probably damaging Het
Chuk C A 19: 44,092,160 (GRCm39) C46F possibly damaging Het
Cp A T 3: 20,042,151 (GRCm39) D973V probably damaging Het
Cpm T A 10: 117,519,266 (GRCm39) D391E probably benign Het
Creb3 T C 4: 43,566,306 (GRCm39) S271P probably damaging Het
Cubn T A 2: 13,323,053 (GRCm39) H2838L possibly damaging Het
Dennd2d A G 3: 106,399,776 (GRCm39) H233R probably benign Het
Dnaaf2 C A 12: 69,245,071 (GRCm39) probably benign Het
Enpp3 T A 10: 24,681,793 (GRCm39) Q304H probably benign Het
Fermt3 C A 19: 6,991,782 (GRCm39) R143L probably benign Het
Fndc8 A C 11: 82,789,580 (GRCm39) K246T probably damaging Het
Gaa A G 11: 119,165,884 (GRCm39) probably null Het
Gucy2e A T 11: 69,119,404 (GRCm39) probably null Het
Igf1r A G 7: 67,653,698 (GRCm39) T79A probably damaging Het
Ikbkb C T 8: 23,171,769 (GRCm39) probably null Het
Il16 A T 7: 83,337,287 (GRCm39) probably null Het
Irs1 T A 1: 82,267,940 (GRCm39) H92L possibly damaging Het
Itpr2 A G 6: 146,277,464 (GRCm39) M315T probably benign Het
Lrba T G 3: 86,261,588 (GRCm39) L1514R probably damaging Het
Mcpt2 A G 14: 56,279,573 (GRCm39) probably benign Het
Metap1d A G 2: 71,283,715 (GRCm39) I5V probably benign Het
Mllt10 T C 2: 18,215,604 (GRCm39) V1063A probably damaging Het
Mroh2b G A 15: 4,950,928 (GRCm39) probably null Het
Mtfr1 C T 3: 19,254,308 (GRCm39) R15* probably null Het
Npm2 A G 14: 70,885,749 (GRCm39) V152A probably benign Het
Nrxn3 T A 12: 89,221,448 (GRCm39) V409D probably damaging Het
Ogdhl A G 14: 32,057,302 (GRCm39) N303D probably damaging Het
Or10g9 T C 9: 39,912,220 (GRCm39) Y101C probably benign Het
Or10q1b T C 19: 13,682,758 (GRCm39) V189A probably damaging Het
Or4d11 T C 19: 12,013,452 (GRCm39) Y218C probably damaging Het
Or6s1 A G 14: 51,308,238 (GRCm39) V204A probably benign Het
Pah T C 10: 87,403,197 (GRCm39) F191L probably damaging Het
Paics A T 5: 77,109,291 (GRCm39) I209F probably damaging Het
Pcare T C 17: 72,059,521 (GRCm39) D52G probably damaging Het
Pld6 A G 11: 59,678,184 (GRCm39) L93P probably damaging Het
Plod3 T C 5: 137,019,862 (GRCm39) F431L possibly damaging Het
Ppm1b T A 17: 85,301,862 (GRCm39) D247E probably damaging Het
Prx A G 7: 27,217,410 (GRCm39) D637G probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,116 (GRCm39) probably benign Het
Ryr2 A T 13: 11,720,679 (GRCm39) Y2656* probably null Het
Setd2 T A 9: 110,423,756 (GRCm39) Y492* probably null Het
Shmt1 A G 11: 60,697,825 (GRCm39) W9R possibly damaging Het
Slc25a17 A G 15: 81,222,151 (GRCm39) V107A probably benign Het
Sptlc1 A T 13: 53,505,675 (GRCm39) Y248N probably damaging Het
Stam2 T C 2: 52,584,936 (GRCm39) T453A probably benign Het
Tango2 G T 16: 18,128,762 (GRCm39) N77K probably damaging Het
Tas2r121 A T 6: 132,677,831 (GRCm39) I47N probably damaging Het
Terb1 A T 8: 105,179,347 (GRCm39) C614S probably damaging Het
Terb1 T C 8: 105,199,369 (GRCm39) N525S probably benign Het
Ttc6 A G 12: 57,719,904 (GRCm39) D825G possibly damaging Het
U90926 A T 5: 92,357,838 (GRCm39) H104Q probably benign Het
Zfand4 G A 6: 116,291,742 (GRCm39) A559T possibly damaging Het
Zfp462 T C 4: 55,009,524 (GRCm39) S497P possibly damaging Het
Other mutations in Mga
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Mga APN 2 119,750,295 (GRCm39) missense possibly damaging 0.65
IGL00719:Mga APN 2 119,777,934 (GRCm39) nonsense probably null
IGL01619:Mga APN 2 119,762,309 (GRCm39) missense possibly damaging 0.46
IGL01721:Mga APN 2 119,765,720 (GRCm39) missense probably damaging 1.00
IGL01759:Mga APN 2 119,781,676 (GRCm39) missense possibly damaging 0.92
IGL01785:Mga APN 2 119,733,393 (GRCm39) missense probably damaging 1.00
IGL01786:Mga APN 2 119,733,393 (GRCm39) missense probably damaging 1.00
IGL01950:Mga APN 2 119,772,135 (GRCm39) missense possibly damaging 0.60
IGL01960:Mga APN 2 119,769,138 (GRCm39) missense probably damaging 1.00
IGL02086:Mga APN 2 119,754,517 (GRCm39) missense probably damaging 0.99
IGL02364:Mga APN 2 119,794,535 (GRCm39) missense possibly damaging 0.66
IGL02602:Mga APN 2 119,762,365 (GRCm39) missense possibly damaging 0.66
IGL02751:Mga APN 2 119,778,251 (GRCm39) missense possibly damaging 0.82
IGL02794:Mga APN 2 119,776,770 (GRCm39) missense possibly damaging 0.84
IGL03247:Mga APN 2 119,765,994 (GRCm39) missense possibly damaging 0.81
IGL03303:Mga APN 2 119,733,933 (GRCm39) missense probably damaging 1.00
PIT4515001:Mga UTSW 2 119,746,985 (GRCm39) missense probably damaging 1.00
R0060:Mga UTSW 2 119,791,442 (GRCm39) critical splice donor site probably null
R0060:Mga UTSW 2 119,791,442 (GRCm39) critical splice donor site probably null
R0417:Mga UTSW 2 119,733,271 (GRCm39) missense probably damaging 0.99
R0449:Mga UTSW 2 119,771,862 (GRCm39) missense probably damaging 1.00
R0457:Mga UTSW 2 119,746,969 (GRCm39) missense probably damaging 0.98
R0538:Mga UTSW 2 119,750,187 (GRCm39) critical splice donor site probably null
R0568:Mga UTSW 2 119,765,903 (GRCm39) missense probably damaging 1.00
R0614:Mga UTSW 2 119,794,947 (GRCm39) missense probably damaging 1.00
R0671:Mga UTSW 2 119,750,391 (GRCm39) splice site probably null
R0811:Mga UTSW 2 119,778,442 (GRCm39) missense probably damaging 0.99
R0812:Mga UTSW 2 119,778,442 (GRCm39) missense probably damaging 0.99
R0948:Mga UTSW 2 119,772,140 (GRCm39) missense possibly damaging 0.77
R1177:Mga UTSW 2 119,756,927 (GRCm39) missense probably damaging 1.00
R1445:Mga UTSW 2 119,733,179 (GRCm39) missense probably damaging 1.00
R1476:Mga UTSW 2 119,772,156 (GRCm39) missense probably damaging 0.96
R1527:Mga UTSW 2 119,747,078 (GRCm39) missense probably damaging 1.00
R1583:Mga UTSW 2 119,794,441 (GRCm39) missense possibly damaging 0.66
R1592:Mga UTSW 2 119,795,147 (GRCm39) missense possibly damaging 0.93
R1627:Mga UTSW 2 119,795,043 (GRCm39) missense probably damaging 1.00
R1658:Mga UTSW 2 119,772,170 (GRCm39) missense possibly damaging 0.63
R1677:Mga UTSW 2 119,791,333 (GRCm39) missense possibly damaging 0.92
R1887:Mga UTSW 2 119,754,098 (GRCm39) missense probably damaging 1.00
R1908:Mga UTSW 2 119,757,075 (GRCm39) missense possibly damaging 0.66
R1909:Mga UTSW 2 119,757,075 (GRCm39) missense possibly damaging 0.66
R2061:Mga UTSW 2 119,795,461 (GRCm39) unclassified probably benign
R2145:Mga UTSW 2 119,794,638 (GRCm39) missense possibly damaging 0.85
R2159:Mga UTSW 2 119,750,124 (GRCm39) missense probably damaging 0.96
R2281:Mga UTSW 2 119,734,204 (GRCm39) missense probably benign
R2423:Mga UTSW 2 119,795,274 (GRCm39) missense probably damaging 1.00
R3620:Mga UTSW 2 119,747,149 (GRCm39) missense probably damaging 1.00
R3622:Mga UTSW 2 119,772,245 (GRCm39) missense probably damaging 1.00
R3624:Mga UTSW 2 119,772,245 (GRCm39) missense probably damaging 1.00
R3802:Mga UTSW 2 119,777,820 (GRCm39) missense probably damaging 0.96
R4011:Mga UTSW 2 119,762,261 (GRCm39) missense probably damaging 1.00
R4065:Mga UTSW 2 119,777,483 (GRCm39) missense probably damaging 1.00
R4520:Mga UTSW 2 119,778,579 (GRCm39) missense possibly damaging 0.85
R4649:Mga UTSW 2 119,771,974 (GRCm39) missense possibly damaging 0.81
R4660:Mga UTSW 2 119,769,104 (GRCm39) intron probably benign
R4757:Mga UTSW 2 119,734,120 (GRCm39) missense possibly damaging 0.82
R4771:Mga UTSW 2 119,794,775 (GRCm39) missense probably damaging 1.00
R4784:Mga UTSW 2 119,733,538 (GRCm39) missense probably damaging 1.00
R4866:Mga UTSW 2 119,794,535 (GRCm39) missense possibly damaging 0.66
R4900:Mga UTSW 2 119,794,535 (GRCm39) missense possibly damaging 0.66
R4952:Mga UTSW 2 119,733,782 (GRCm39) missense probably damaging 1.00
R4995:Mga UTSW 2 119,763,063 (GRCm39) nonsense probably null
R5020:Mga UTSW 2 119,781,654 (GRCm39) nonsense probably null
R5082:Mga UTSW 2 119,733,825 (GRCm39) missense probably damaging 0.98
R5208:Mga UTSW 2 119,778,462 (GRCm39) missense possibly damaging 0.83
R5454:Mga UTSW 2 119,733,810 (GRCm39) missense probably damaging 0.99
R5466:Mga UTSW 2 119,733,178 (GRCm39) missense probably damaging 1.00
R5484:Mga UTSW 2 119,747,107 (GRCm39) missense possibly damaging 0.58
R5669:Mga UTSW 2 119,733,907 (GRCm39) missense probably damaging 1.00
R5819:Mga UTSW 2 119,771,744 (GRCm39) missense possibly damaging 0.61
R5916:Mga UTSW 2 119,794,793 (GRCm39) missense probably benign 0.27
R5942:Mga UTSW 2 119,777,440 (GRCm39) missense probably benign 0.41
R6305:Mga UTSW 2 119,778,179 (GRCm39) missense probably benign 0.00
R6434:Mga UTSW 2 119,754,419 (GRCm39) missense probably damaging 0.99
R6467:Mga UTSW 2 119,776,776 (GRCm39) missense probably damaging 1.00
R6488:Mga UTSW 2 119,791,388 (GRCm39) missense probably damaging 1.00
R6630:Mga UTSW 2 119,754,140 (GRCm39) missense probably damaging 0.99
R6790:Mga UTSW 2 119,754,235 (GRCm39) missense probably damaging 0.99
R7029:Mga UTSW 2 119,754,031 (GRCm39) missense probably damaging 1.00
R7039:Mga UTSW 2 119,763,159 (GRCm39) missense probably benign 0.28
R7088:Mga UTSW 2 119,792,417 (GRCm39) missense probably damaging 1.00
R7195:Mga UTSW 2 119,747,809 (GRCm39) missense probably damaging 1.00
R7273:Mga UTSW 2 119,765,695 (GRCm39) missense probably damaging 1.00
R7286:Mga UTSW 2 119,795,269 (GRCm39) missense possibly damaging 0.93
R7346:Mga UTSW 2 119,766,008 (GRCm39) missense possibly damaging 0.56
R7383:Mga UTSW 2 119,790,821 (GRCm39) missense probably damaging 0.99
R7469:Mga UTSW 2 119,733,527 (GRCm39) missense probably damaging 1.00
R7484:Mga UTSW 2 119,776,710 (GRCm39) missense probably damaging 0.99
R7537:Mga UTSW 2 119,766,032 (GRCm39) missense probably damaging 0.97
R7781:Mga UTSW 2 119,747,838 (GRCm39) missense probably damaging 1.00
R7921:Mga UTSW 2 119,750,159 (GRCm39) missense probably damaging 1.00
R8165:Mga UTSW 2 119,777,719 (GRCm39) missense probably benign 0.12
R8226:Mga UTSW 2 119,790,866 (GRCm39) missense probably benign 0.33
R8305:Mga UTSW 2 119,776,800 (GRCm39) missense possibly damaging 0.77
R8309:Mga UTSW 2 119,791,411 (GRCm39) missense probably damaging 1.00
R8363:Mga UTSW 2 119,794,407 (GRCm39) missense probably benign 0.43
R8388:Mga UTSW 2 119,794,562 (GRCm39) missense probably benign 0.00
R8524:Mga UTSW 2 119,771,997 (GRCm39) missense probably damaging 0.97
R8693:Mga UTSW 2 119,794,407 (GRCm39) missense possibly damaging 0.65
R8837:Mga UTSW 2 119,769,272 (GRCm39) splice site probably benign
R8916:Mga UTSW 2 119,788,819 (GRCm39) missense possibly damaging 0.92
R8936:Mga UTSW 2 119,794,709 (GRCm39) missense probably damaging 1.00
R9028:Mga UTSW 2 119,778,070 (GRCm39) missense probably benign
R9145:Mga UTSW 2 119,794,493 (GRCm39) missense probably benign
R9155:Mga UTSW 2 119,757,013 (GRCm39) missense probably damaging 1.00
R9308:Mga UTSW 2 119,754,369 (GRCm39) missense possibly damaging 0.91
R9342:Mga UTSW 2 119,778,656 (GRCm39) missense probably benign
R9347:Mga UTSW 2 119,733,518 (GRCm39) missense probably damaging 1.00
R9390:Mga UTSW 2 119,794,332 (GRCm39) missense probably damaging 0.99
R9408:Mga UTSW 2 119,765,999 (GRCm39) missense possibly damaging 0.92
R9488:Mga UTSW 2 119,795,304 (GRCm39) missense possibly damaging 0.90
R9495:Mga UTSW 2 119,781,676 (GRCm39) missense possibly damaging 0.92
R9521:Mga UTSW 2 119,794,979 (GRCm39) missense probably damaging 0.99
R9780:Mga UTSW 2 119,747,253 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- GAAATTGTGTAGGCCCCTGTAC -3'
(R):5'- GCATCACTCTGTGCATGATACC -3'

Sequencing Primer
(F):5'- ACTTTTTGGAGTACAGGTGAATGCTC -3'
(R):5'- TATTCCCTAGAACTCTGAGAGGC -3'
Posted On 2014-10-02