Incidental Mutation 'R9567:Mdga1'
ID 721724
Institutional Source Beutler Lab
Gene Symbol Mdga1
Ensembl Gene ENSMUSG00000043557
Gene Name MAM domain containing glycosylphosphatidylinositol anchor 1
Synonyms Mamdc3, 1200011I03Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R9567 (G1)
Quality Score 215.009
Status Not validated
Chromosome 17
Chromosomal Location 30046930-30107557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30076569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 68 (P68S)
Ref Sequence ENSEMBL: ENSMUSP00000132583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073556] [ENSMUST00000165211] [ENSMUST00000167190] [ENSMUST00000171691]
AlphaFold Q0PMG2
Predicted Effect probably damaging
Transcript: ENSMUST00000073556
AA Change: P68S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: P68S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGc2 51 115 1.62e-12 SMART
IG 142 236 3.2e-2 SMART
IGc2 253 315 6.25e-14 SMART
IGc2 348 422 3.54e-4 SMART
IGc2 454 521 6.55e-8 SMART
IGc2 551 623 9.49e-5 SMART
FN3 642 731 2.05e0 SMART
MAM 741 911 1.02e-52 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165211
AA Change: P68S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132583
Gene: ENSMUSG00000043557
AA Change: P68S

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
IGc2 51 115 1.62e-12 SMART
IG_like 148 221 6.07e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167190
AA Change: P342S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130395
Gene: ENSMUSG00000043557
AA Change: P342S

DomainStartEndE-ValueType
low complexity region 236 246 N/A INTRINSIC
low complexity region 251 265 N/A INTRINSIC
IGc2 325 389 1.62e-12 SMART
IG 416 510 3.2e-2 SMART
IGc2 527 589 6.25e-14 SMART
IGc2 622 696 3.54e-4 SMART
IGc2 728 795 6.55e-8 SMART
IGc2 825 897 9.49e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171691
AA Change: P68S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: P68S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGc2 51 115 1.62e-12 SMART
IG 142 236 3.2e-2 SMART
IGc2 253 315 6.25e-14 SMART
IGc2 348 422 3.54e-4 SMART
IGc2 454 521 6.55e-8 SMART
IGc2 551 623 9.49e-5 SMART
FN3 642 731 2.05e0 SMART
MAM 749 919 3.61e-53 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuronal migration during corticogenesis that is resolved by P7 [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,602,793 (GRCm39) P52S probably damaging Het
6820408C15Rik C A 2: 152,270,867 (GRCm39) P30Q probably damaging Het
Adam18 C T 8: 25,118,210 (GRCm39) V569I probably benign Het
Adnp2 A T 18: 80,174,133 (GRCm39) L92Q probably damaging Het
Ahi1 C T 10: 20,857,300 (GRCm39) H632Y possibly damaging Het
Akap9 A G 5: 4,127,311 (GRCm39) N3720D possibly damaging Het
Alpk3 T C 7: 80,742,687 (GRCm39) S835P possibly damaging Het
Amer3 C T 1: 34,627,836 (GRCm39) L692F probably benign Het
Anks6 T A 4: 47,044,880 (GRCm39) D342V unknown Het
Arap2 G T 5: 62,761,841 (GRCm39) F1628L probably benign Het
Arhgap21 T G 2: 20,896,953 (GRCm39) I108L possibly damaging Het
Cacna1h T C 17: 25,612,487 (GRCm39) I404V probably damaging Het
Cacna2d3 G T 14: 28,627,268 (GRCm39) A1077E probably benign Het
Cacng6 T C 7: 3,483,281 (GRCm39) V203A probably benign Het
Clec1b A T 6: 129,382,201 (GRCm39) D226V possibly damaging Het
Crb1 A C 1: 139,171,208 (GRCm39) S727R probably benign Het
Dars1 T C 1: 128,343,112 (GRCm39) I35V Het
Ddo T A 10: 40,523,913 (GRCm39) V301D probably damaging Het
Diablo C A 5: 123,662,196 (GRCm39) probably benign Het
Dipk1a T A 5: 108,057,368 (GRCm39) K397* probably null Het
Dnhd1 C A 7: 105,353,473 (GRCm39) H2875Q probably benign Het
E230025N22Rik A G 18: 36,820,336 (GRCm39) L282P Het
Ebna1bp2 A G 4: 118,478,190 (GRCm39) Q21R probably benign Het
Exoc7 C T 11: 116,195,724 (GRCm39) V93I probably benign Het
Foxk1 T A 5: 142,387,713 (GRCm39) Y145* probably null Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Fsip2 C T 2: 82,798,173 (GRCm39) T489M probably benign Het
Gbf1 C T 19: 46,260,046 (GRCm39) T1067I Het
Ggta1 T A 2: 35,313,333 (GRCm39) T3S possibly damaging Het
Guf1 T A 5: 69,721,951 (GRCm39) V370E possibly damaging Het
Hmg20a A G 9: 56,384,472 (GRCm39) S81G probably benign Het
Igf2r G A 17: 12,905,641 (GRCm39) T2230I probably damaging Het
Ighmbp2 A T 19: 3,332,785 (GRCm39) M1K probably null Het
Klhdc9 T C 1: 171,187,914 (GRCm39) T106A probably benign Het
Kti12 T C 4: 108,705,935 (GRCm39) M283T possibly damaging Het
Lrig3 C T 10: 125,845,964 (GRCm39) P798S probably benign Het
Lrp8 T C 4: 107,711,469 (GRCm39) F333L probably damaging Het
Lyn T A 4: 3,746,757 (GRCm39) D178E probably benign Het
Magi1 G A 6: 93,655,431 (GRCm39) A1405V probably damaging Het
Magi1 A C 6: 93,659,931 (GRCm39) probably null Het
Mfsd8 T C 3: 40,793,933 (GRCm39) S25G probably benign Het
Mgat1 C A 11: 49,152,694 (GRCm39) S392R probably benign Het
Mtmr2 C T 9: 13,713,301 (GRCm39) Q493* probably null Het
Myocd A T 11: 65,078,410 (GRCm39) S462T probably damaging Het
Ndnf A G 6: 65,681,164 (GRCm39) Y481C probably damaging Het
Neb G T 2: 52,065,138 (GRCm39) R6258S probably damaging Het
Nlrp4c A G 7: 6,063,624 (GRCm39) M11V probably benign Het
Nup93 T C 8: 95,035,604 (GRCm39) S658P possibly damaging Het
Obox2 T A 7: 15,130,771 (GRCm39) M1K probably null Het
Or10ag55-ps1 T A 2: 87,115,037 (GRCm39) Y134* probably null Het
Or10g9 T A 9: 39,912,367 (GRCm39) H52L possibly damaging Het
Or1e20-ps1 G T 11: 73,324,789 (GRCm39) H88N unknown Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Pcdh18 T A 3: 49,710,884 (GRCm39) I144F possibly damaging Het
Pcdhgb5 C T 18: 37,864,982 (GRCm39) T259I probably damaging Het
Pclo A G 5: 14,763,436 (GRCm39) T685A Het
Pecam1 T C 11: 106,588,121 (GRCm39) T139A possibly damaging Het
Pi15 T A 1: 17,695,178 (GRCm39) L265Q probably damaging Het
Pkd1l3 T A 8: 110,394,173 (GRCm39) F2053L probably damaging Het
Ppp1r36 A G 12: 76,485,900 (GRCm39) I353V probably benign Het
Ppp1r9a A G 6: 5,157,004 (GRCm39) S961G probably benign Het
Rbm42 T C 7: 30,345,395 (GRCm39) R151G possibly damaging Het
Rnf224 T C 2: 25,126,354 (GRCm39) probably benign Het
Scn2a C T 2: 65,518,974 (GRCm39) T400I probably damaging Het
Slc17a5 T A 9: 78,445,562 (GRCm39) Q457L possibly damaging Het
Slc5a4a A T 10: 76,022,396 (GRCm39) D577V probably benign Het
Stim2 A G 5: 54,232,707 (GRCm39) D123G probably damaging Het
Stxbp5l A G 16: 37,061,734 (GRCm39) F359L probably benign Het
Syne1 T C 10: 5,196,386 (GRCm39) D3882G possibly damaging Het
Synj1 G T 16: 90,790,912 (GRCm39) S83Y possibly damaging Het
Tfip11 C T 5: 112,479,029 (GRCm39) T199I probably damaging Het
Thoc2l T A 5: 104,669,644 (GRCm39) S1389T probably benign Het
Tiam1 T A 16: 89,591,653 (GRCm39) D1349V probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ucn3 T A 13: 3,991,313 (GRCm39) D113V probably damaging Het
Ugt3a1 A G 15: 9,306,370 (GRCm39) D173G possibly damaging Het
Uimc1 C A 13: 55,188,427 (GRCm39) R544L possibly damaging Het
Unc13c T C 9: 73,536,485 (GRCm39) S1623G probably damaging Het
Vmn2r41 T C 7: 8,141,391 (GRCm39) N691S probably benign Het
Wdr24 T A 17: 26,043,190 (GRCm39) M4K probably damaging Het
Wdr48 T C 9: 119,741,454 (GRCm39) F332L probably benign Het
Xpo7 A G 14: 70,903,466 (GRCm39) V1080A probably benign Het
Zc3h3 A T 15: 75,651,261 (GRCm39) I653N probably damaging Het
Zfp1005 A T 2: 150,109,517 (GRCm39) H69L possibly damaging Het
Zfp362 T A 4: 128,688,681 (GRCm39) M1L unknown Het
Zfp503 A G 14: 22,036,041 (GRCm39) C292R possibly damaging Het
Other mutations in Mdga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Mdga1 APN 17 30,062,101 (GRCm39) missense possibly damaging 0.50
IGL01637:Mdga1 APN 17 30,058,845 (GRCm39) missense probably damaging 1.00
IGL02130:Mdga1 APN 17 30,076,643 (GRCm39) missense possibly damaging 0.96
IGL02596:Mdga1 APN 17 30,051,379 (GRCm39) splice site probably benign
IGL03258:Mdga1 APN 17 30,058,887 (GRCm39) missense probably damaging 1.00
R0184:Mdga1 UTSW 17 30,071,416 (GRCm39) missense probably damaging 1.00
R0366:Mdga1 UTSW 17 30,076,682 (GRCm39) missense possibly damaging 0.85
R1017:Mdga1 UTSW 17 30,069,522 (GRCm39) missense probably damaging 0.98
R1520:Mdga1 UTSW 17 30,065,493 (GRCm39) missense probably benign 0.12
R1545:Mdga1 UTSW 17 30,061,876 (GRCm39) missense probably damaging 1.00
R1549:Mdga1 UTSW 17 30,056,972 (GRCm39) missense probably damaging 1.00
R1671:Mdga1 UTSW 17 30,069,603 (GRCm39) missense probably damaging 1.00
R1875:Mdga1 UTSW 17 30,071,581 (GRCm39) missense probably damaging 1.00
R1893:Mdga1 UTSW 17 30,068,200 (GRCm39) missense probably damaging 1.00
R1958:Mdga1 UTSW 17 30,059,862 (GRCm39) missense probably damaging 1.00
R1983:Mdga1 UTSW 17 30,069,579 (GRCm39) missense probably damaging 1.00
R2014:Mdga1 UTSW 17 30,068,287 (GRCm39) missense probably damaging 1.00
R2894:Mdga1 UTSW 17 30,071,478 (GRCm39) missense probably damaging 1.00
R2964:Mdga1 UTSW 17 30,071,442 (GRCm39) missense probably damaging 1.00
R3813:Mdga1 UTSW 17 30,057,453 (GRCm39) missense probably damaging 1.00
R3938:Mdga1 UTSW 17 30,076,596 (GRCm39) missense probably damaging 1.00
R3982:Mdga1 UTSW 17 30,150,238 (GRCm39) missense unknown
R4063:Mdga1 UTSW 17 30,057,005 (GRCm39) missense probably damaging 1.00
R4157:Mdga1 UTSW 17 30,052,317 (GRCm39) missense probably benign 0.32
R4183:Mdga1 UTSW 17 30,188,964 (GRCm39) missense unknown
R4392:Mdga1 UTSW 17 30,069,630 (GRCm39) missense probably damaging 1.00
R4393:Mdga1 UTSW 17 30,069,491 (GRCm39) missense probably damaging 1.00
R4396:Mdga1 UTSW 17 30,069,491 (GRCm39) missense probably damaging 1.00
R4806:Mdga1 UTSW 17 30,061,128 (GRCm39) missense probably benign 0.20
R4829:Mdga1 UTSW 17 30,065,343 (GRCm39) missense possibly damaging 0.91
R4923:Mdga1 UTSW 17 30,057,052 (GRCm39) missense probably damaging 0.99
R4932:Mdga1 UTSW 17 30,076,580 (GRCm39) missense probably damaging 1.00
R5015:Mdga1 UTSW 17 30,058,847 (GRCm39) missense possibly damaging 0.71
R5076:Mdga1 UTSW 17 30,069,528 (GRCm39) missense possibly damaging 0.93
R5141:Mdga1 UTSW 17 30,071,467 (GRCm39) missense probably benign 0.43
R5180:Mdga1 UTSW 17 30,076,710 (GRCm39) splice site probably benign
R5590:Mdga1 UTSW 17 30,058,841 (GRCm39) missense probably damaging 1.00
R5747:Mdga1 UTSW 17 30,069,525 (GRCm39) missense probably benign 0.11
R5748:Mdga1 UTSW 17 30,069,525 (GRCm39) missense probably benign 0.11
R6207:Mdga1 UTSW 17 30,057,491 (GRCm39) missense probably damaging 1.00
R6826:Mdga1 UTSW 17 30,189,000 (GRCm39) missense unknown
R6831:Mdga1 UTSW 17 30,106,490 (GRCm39) nonsense probably null
R7114:Mdga1 UTSW 17 30,061,816 (GRCm39) splice site probably null
R7147:Mdga1 UTSW 17 30,065,495 (GRCm39) nonsense probably null
R7273:Mdga1 UTSW 17 30,188,912 (GRCm39) missense unknown
R7413:Mdga1 UTSW 17 30,069,647 (GRCm39) missense probably damaging 1.00
R7637:Mdga1 UTSW 17 30,051,353 (GRCm39) missense probably benign 0.00
R7797:Mdga1 UTSW 17 30,061,814 (GRCm39) splice site probably null
R7812:Mdga1 UTSW 17 30,062,115 (GRCm39) missense probably benign 0.02
R7838:Mdga1 UTSW 17 30,058,796 (GRCm39) missense probably benign 0.10
R8463:Mdga1 UTSW 17 30,068,703 (GRCm39) missense probably damaging 1.00
R8697:Mdga1 UTSW 17 30,065,615 (GRCm39) missense probably damaging 0.97
R8699:Mdga1 UTSW 17 30,061,348 (GRCm39) missense possibly damaging 0.87
R8864:Mdga1 UTSW 17 30,150,295 (GRCm39) missense unknown
R8945:Mdga1 UTSW 17 30,058,959 (GRCm39) splice site probably benign
R9150:Mdga1 UTSW 17 30,057,420 (GRCm39) missense probably damaging 0.98
R9157:Mdga1 UTSW 17 30,057,491 (GRCm39) missense probably damaging 1.00
R9294:Mdga1 UTSW 17 30,058,871 (GRCm39) missense probably damaging 1.00
R9301:Mdga1 UTSW 17 30,069,512 (GRCm39) missense probably benign 0.31
R9367:Mdga1 UTSW 17 30,051,282 (GRCm39) makesense probably null
R9665:Mdga1 UTSW 17 30,051,991 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAGGTGATGGTACCCACAG -3'
(R):5'- CTGAAATCGCTCAGTCCTCC -3'

Sequencing Primer
(F):5'- CCCTGAAGAGTTCATTTCTAGGCTAG -3'
(R):5'- GAAATCGCTCAGTCCTCCCTCTC -3'
Posted On 2022-08-09