Incidental Mutation 'R5748:Mdga1'
ID 445897
Institutional Source Beutler Lab
Gene Symbol Mdga1
Ensembl Gene ENSMUSG00000043557
Gene Name MAM domain containing glycosylphosphatidylinositol anchor 1
Synonyms Mamdc3, 1200011I03Rik
MMRRC Submission 043355-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R5748 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 30046930-30107557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30069525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 174 (D174N)
Ref Sequence ENSEMBL: ENSMUSP00000126529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073556] [ENSMUST00000165211] [ENSMUST00000167190] [ENSMUST00000171691]
AlphaFold Q0PMG2
Predicted Effect probably benign
Transcript: ENSMUST00000073556
AA Change: D174N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: D174N

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 benign
Transcript: ENSMUST00000165211
AA Change: D174N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132583
Gene: ENSMUSG00000043557
AA Change: D174N

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 noncoding transcript
Transcript: ENSMUST00000167102
Predicted Effect probably benign
Transcript: ENSMUST00000167190
AA Change: D448N

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000130395
Gene: ENSMUSG00000043557
AA Change: D448N

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 benign
Transcript: ENSMUST00000171691
AA Change: D174N

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: D174N

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
Meta Mutation Damage Score 0.1101 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 98% (58/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,739,447 (GRCm39) Q285R probably damaging Het
Acy1 T A 9: 106,313,926 (GRCm39) N78I probably damaging Het
Anln T C 9: 22,249,230 (GRCm39) K166E probably damaging Het
C1qtnf4 A G 2: 90,719,877 (GRCm39) D50G probably damaging Het
Cntnap2 A G 6: 45,692,818 (GRCm39) T100A probably damaging Het
Cxcr6 C T 9: 123,639,406 (GRCm39) R143C probably damaging Het
Dhx16 T C 17: 36,194,206 (GRCm39) L439P probably damaging Het
Dlk1 T C 12: 109,425,898 (GRCm39) V257A probably benign Het
Ebpl A T 14: 61,597,793 (GRCm39) L16Q probably null Het
Eml5 T A 12: 98,791,814 (GRCm39) Y1234F probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gria1 A G 11: 57,200,702 (GRCm39) D793G probably benign Het
Gtse1 T C 15: 85,751,778 (GRCm39) Y324H probably benign Het
Hcn1 A T 13: 118,112,591 (GRCm39) S852C probably damaging Het
Invs A G 4: 48,307,823 (GRCm39) T83A probably damaging Het
Iqgap3 T C 3: 88,016,677 (GRCm39) L155P probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc14b T A 13: 74,511,759 (GRCm39) D107V probably damaging Het
Mcm9 A T 10: 53,501,825 (GRCm39) H253Q probably damaging Het
Mcmdc2 A G 1: 9,982,032 (GRCm39) Y30C probably damaging Het
Med13l G A 5: 118,731,510 (GRCm39) R62H probably damaging Het
Mrgpra2b A G 7: 47,152,280 (GRCm39) probably benign Het
Nacad T A 11: 6,548,370 (GRCm39) K1426* probably null Het
Ndufb6 A G 4: 40,279,234 (GRCm39) L35S probably damaging Het
Niban2 A T 2: 32,809,581 (GRCm39) K260M probably damaging Het
Nkapl A G 13: 21,651,779 (GRCm39) I278T probably benign Het
Nrbp2 T C 15: 75,961,332 (GRCm39) E263G probably damaging Het
Nup85 T A 11: 115,471,338 (GRCm39) L110Q probably damaging Het
Or14c40 A G 7: 86,313,293 (GRCm39) N141S possibly damaging Het
Or1e35 A G 11: 73,797,721 (GRCm39) I199T probably damaging Het
Or2t6 T C 14: 14,175,314 (GRCm38) Y256C probably damaging Het
Or4a78 A T 2: 89,498,146 (GRCm39) M28K possibly damaging Het
Or5b12 T A 19: 12,897,379 (GRCm39) Q98L probably damaging Het
Or6b2b T A 1: 92,418,815 (GRCm39) I221F probably damaging Het
Polr2m C T 9: 71,390,918 (GRCm39) D95N probably benign Het
Popdc2 A T 16: 38,194,665 (GRCm39) D362V probably damaging Het
Pot1a A T 6: 25,758,855 (GRCm39) I308N possibly damaging Het
Rsf1 GCGGCGGC GCGGCGGCGTCGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rundc3a G A 11: 102,290,225 (GRCm39) E189K possibly damaging Het
Scaf1 A C 7: 44,662,230 (GRCm39) probably null Het
Scaper T C 9: 55,766,360 (GRCm39) probably null Het
Sh3glb1 C T 3: 144,418,410 (GRCm39) C51Y probably damaging Het
Slc10a5 T C 3: 10,400,391 (GRCm39) T90A probably benign Het
Slc17a3 T A 13: 24,040,449 (GRCm39) S336T probably damaging Het
Slc41a2 C A 10: 83,133,023 (GRCm39) C341F probably benign Het
Spata31 A G 13: 65,068,127 (GRCm39) *67W probably null Het
Stap2 C T 17: 56,307,475 (GRCm39) probably null Het
Stt3a A T 9: 36,663,696 (GRCm39) M182K probably benign Het
Tcfl5 G A 2: 180,284,050 (GRCm39) silent Het
Tmx3 T C 18: 90,555,225 (GRCm39) V314A probably benign Het
Upf1 A G 8: 70,791,167 (GRCm39) L525P probably damaging Het
Wdr6 T C 9: 108,452,981 (GRCm39) I301V possibly damaging Het
Ylpm1 T A 12: 85,107,025 (GRCm39) probably null Het
Zfp273 T C 13: 67,973,450 (GRCm39) Y160H probably 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
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
R9567:Mdga1 UTSW 17 30,076,569 (GRCm39) missense probably damaging 1.00
R9665:Mdga1 UTSW 17 30,051,991 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCCCAAGCTGTGTGAACTC -3'
(R):5'- TGGTCACTTCGTCTTGACTTAG -3'

Sequencing Primer
(F):5'- GAATTGATGATGTCAGACCAGTCTCC -3'
(R):5'- CACTTCGTCTTGACTTAGGGCTG -3'
Posted On 2016-11-21