Incidental Mutation 'R9665:Mdga1'
ID 727802
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 # R9665 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 30046930-30107557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30051991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 892 (I892N)
Ref Sequence ENSEMBL: ENSMUSP00000126529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073556] [ENSMUST00000168044] [ENSMUST00000171691]
AlphaFold Q0PMG2
Predicted Effect probably damaging
Transcript: ENSMUST00000073556
AA Change: I884N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: I884N

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: ENSMUST00000168044
SMART Domains Protein: ENSMUSP00000126571
Gene: ENSMUSG00000043557

DomainStartEndE-ValueType
Pfam:MAM 47 186 3.1e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171691
AA Change: I892N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: I892N

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: 98.7%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,407,796 (GRCm39) E79G probably damaging Het
4930583I09Rik T A 17: 65,141,288 (GRCm39) Q78L unknown Het
9330159F19Rik G T 10: 29,103,344 (GRCm39) V642F probably benign Het
Abca9 T A 11: 110,006,280 (GRCm39) Q1275L probably benign Het
Abca9 G T 11: 110,006,281 (GRCm39) Q1275K probably benign Het
Ager C T 17: 34,819,090 (GRCm39) P313S probably benign Het
Ap4m1 T A 5: 138,171,273 (GRCm39) N98K probably benign Het
Arhgef12 T G 9: 42,929,650 (GRCm39) K215T possibly damaging Het
Arhgef4 T C 1: 34,849,518 (GRCm39) Y370H probably benign Het
Bcat1 T G 6: 144,994,488 (GRCm39) H3P probably benign Het
Btnl6 T A 17: 34,732,635 (GRCm39) Q313L probably benign Het
Cad T C 5: 31,229,703 (GRCm39) S1458P probably benign Het
Cfap161 A G 7: 83,442,579 (GRCm39) V78A probably benign Het
Chd2 C A 7: 73,079,555 (GRCm39) A1782S probably benign Het
Cimip2b T A 4: 43,427,554 (GRCm39) R257* probably null Het
Col4a3 A T 1: 82,668,301 (GRCm39) T1042S unknown Het
Cramp1 A T 17: 25,196,545 (GRCm39) N856K probably damaging Het
Crispld2 G A 8: 120,760,316 (GRCm39) R414H probably benign Het
Ctsb T A 14: 63,370,917 (GRCm39) probably null Het
Cyp2c69 T C 19: 39,839,504 (GRCm39) D373G possibly damaging Het
Dnah3 A G 7: 119,644,981 (GRCm39) V1100A probably benign Het
Dnajb6 A T 5: 29,971,374 (GRCm39) L225F probably damaging Het
Dscc1 A T 15: 54,946,837 (GRCm39) I296K unknown Het
Epb41l2 A G 10: 25,317,798 (GRCm39) D105G probably benign Het
Evpl G A 11: 116,123,497 (GRCm39) R292C probably damaging Het
Flnc T C 6: 29,455,447 (GRCm39) I2032T probably damaging Het
Fryl T A 5: 73,222,299 (GRCm39) D2094V probably damaging Het
Gigyf2 A G 1: 87,331,457 (GRCm39) S202G unknown Het
Hdgfl1 A T 13: 26,953,812 (GRCm39) M87K probably benign Het
Htra3 T A 5: 35,836,654 (GRCm39) I13F unknown Het
Igf2r T C 17: 12,913,027 (GRCm39) N1774D probably benign Het
Ighj1 A T 12: 113,393,446 (GRCm39) Y3N Het
Incenp T C 19: 9,871,329 (GRCm39) H100R unknown Het
Klrb1c A G 6: 128,760,625 (GRCm39) probably null Het
Lmbrd1 T A 1: 24,732,065 (GRCm39) V94D probably damaging Het
Lmna A T 3: 88,389,793 (GRCm39) S611T probably benign Het
Lsp1 A C 7: 142,044,142 (GRCm39) I296L probably benign Het
Micu3 A G 8: 40,828,666 (GRCm39) E351G probably benign Het
Mrpl35 A G 6: 71,795,704 (GRCm39) V61A probably benign Het
Nhsl1 A G 10: 18,401,599 (GRCm39) K908E possibly damaging Het
Nlk A G 11: 78,481,753 (GRCm39) L236P Het
Nwd1 T A 8: 73,401,106 (GRCm39) H735Q probably damaging Het
Or1e1b-ps1 A T 11: 73,845,656 (GRCm39) I47F probably benign Het
Or5d47 A G 2: 87,804,596 (GRCm39) S138P possibly damaging Het
Or5w17 A T 2: 87,583,671 (GRCm39) I222N probably damaging Het
Or7h8 T A 9: 20,124,402 (GRCm39) Y252* probably null Het
Otof T A 5: 30,584,895 (GRCm39) S70C probably benign Het
Pcdh20 A T 14: 88,707,162 (GRCm39) V46D probably benign Het
Pjvk A G 2: 76,487,827 (GRCm39) T240A probably benign Het
Pou2f1 A G 1: 165,703,600 (GRCm39) S697P probably damaging Het
Prkn T A 17: 11,286,062 (GRCm39) D18E possibly damaging Het
Prmt9 G A 8: 78,307,267 (GRCm39) V739I probably benign Het
Prr14 A G 7: 127,073,091 (GRCm39) D146G probably benign Het
Rai14 T G 15: 10,574,803 (GRCm39) E747D probably damaging Het
Rapgef4 A T 2: 72,036,018 (GRCm39) T504S probably benign Het
Rilpl2 C A 5: 124,616,240 (GRCm39) probably benign Het
Ror2 A T 13: 53,439,561 (GRCm39) M1K probably null Het
Shisa9 A G 16: 12,085,446 (GRCm39) T352A probably benign Het
Slc35a4 A G 18: 36,813,651 (GRCm39) N33S probably benign Het
Slx4 G T 16: 3,806,890 (GRCm39) L518I probably benign Het
Speer1i A G 5: 11,092,852 (GRCm39) K132R Het
Spon2 T C 5: 33,374,702 (GRCm39) T35A probably benign Het
Syne3 A C 12: 104,924,247 (GRCm39) L471R probably benign Het
Tas2r115 A G 6: 132,714,390 (GRCm39) L187S probably benign Het
Tbc1d30 G T 10: 121,102,886 (GRCm39) S715R possibly damaging Het
Tdrd1 A G 19: 56,819,572 (GRCm39) E24G probably benign Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tjp1 A G 7: 64,962,644 (GRCm39) S1178P probably benign Het
Upf2 A G 2: 6,051,715 (GRCm39) S1126G unknown Het
Vmn1r128 G T 7: 21,083,362 (GRCm39) C22F probably damaging Het
Vmn2r95 G T 17: 18,660,607 (GRCm39) V340F probably damaging Het
Vps13c A T 9: 67,863,025 (GRCm39) K3014* probably null Het
Wdr75 T C 1: 45,843,013 (GRCm39) V126A unknown Het
Yeats4 A T 10: 117,053,343 (GRCm39) Y139* probably null Het
Zc3h13 A G 14: 75,567,989 (GRCm39) D1094G probably damaging Het
Zfp143 C G 7: 109,692,414 (GRCm39) I608M probably damaging Het
Zfp772 A T 7: 7,212,793 (GRCm39) M1K probably null Het
Zfp827 A G 8: 79,906,756 (GRCm39) M923V 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
R9567:Mdga1 UTSW 17 30,076,569 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACACACAGTTCTTGTCATCC -3'
(R):5'- TGTACCCATTAACCCCAGTGG -3'

Sequencing Primer
(F):5'- GTCATCCAGACATCCTAAGCC -3'
(R):5'- CCCTTCCAGGTAAGAAGATGGCTG -3'
Posted On 2022-10-06