Incidental Mutation 'R8119:Amigo1'
ID 631385
Institutional Source Beutler Lab
Gene Symbol Amigo1
Ensembl Gene ENSMUSG00000050947
Gene Name adhesion molecule with Ig like domain 1
Synonyms
MMRRC Submission 067548-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8119 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 108093651-108099602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108094852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 117 (L117P)
Ref Sequence ENSEMBL: ENSMUSP00000061244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050909] [ENSMUST00000106656] [ENSMUST00000106659]
AlphaFold Q80ZD8
PDB Structure CRYSTAL STRUCTURE OF NEURONAL LEUCINE RICH REPEAT PROTEIN AMIGO-1 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000050909
AA Change: L117P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061244
Gene: ENSMUSG00000050947
AA Change: L117P

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
LRRNT 33 65 4.45e-2 SMART
LRR_TYP 85 108 3.83e-2 SMART
LRR_TYP 109 132 8.94e-3 SMART
LRR 133 156 2.32e-1 SMART
LRR 157 180 6.57e-1 SMART
LRR 184 207 1.99e0 SMART
LRRCT 221 271 3.59e-3 SMART
IG 275 358 6.65e-9 SMART
low complexity region 380 392 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106656
AA Change: L117P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102267
Gene: ENSMUSG00000050947
AA Change: L117P

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
LRRNT 33 65 4.45e-2 SMART
LRR_TYP 85 108 3.83e-2 SMART
LRR_TYP 109 132 8.94e-3 SMART
LRR 133 156 2.32e-1 SMART
LRR 157 180 6.57e-1 SMART
LRR 184 207 1.99e0 SMART
LRRCT 221 271 3.59e-3 SMART
IG 275 358 6.65e-9 SMART
low complexity region 380 392 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106659
AA Change: L117P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102270
Gene: ENSMUSG00000050947
AA Change: L117P

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
LRRNT 33 65 4.45e-2 SMART
LRR_TYP 85 108 3.83e-2 SMART
LRR_TYP 109 132 8.94e-3 SMART
LRR 133 156 2.32e-1 SMART
LRR 157 180 6.57e-1 SMART
LRR 184 207 1.99e0 SMART
LRRCT 221 271 3.59e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106661
SMART Domains Protein: ENSMUSP00000102272
Gene: ENSMUSG00000050947

DomainStartEndE-ValueType
low complexity region 2 49 N/A INTRINSIC
low complexity region 75 87 N/A INTRINSIC
low complexity region 141 155 N/A INTRINSIC
LRRNT 167 199 4.45e-2 SMART
LRR_TYP 219 242 3.83e-2 SMART
LRR_TYP 243 266 8.94e-3 SMART
LRR 267 290 2.32e-1 SMART
LRR 291 314 6.57e-1 SMART
LRR 318 341 1.99e0 SMART
LRRCT 355 405 3.59e-3 SMART
IG 409 492 6.65e-9 SMART
low complexity region 514 526 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155782
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.7%
  • 20x: 95.2%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,087,930 (GRCm39) I1066V probably benign Het
Abcd2 T C 15: 91,033,197 (GRCm39) T740A probably benign Het
Ankar A T 1: 72,686,160 (GRCm39) S1347T probably damaging Het
Apol7e T C 15: 77,601,956 (GRCm39) S185P probably damaging Het
Ash1l G A 3: 88,942,734 (GRCm39) C2088Y probably damaging Het
Atrnl1 A G 19: 57,630,895 (GRCm39) T221A probably benign Het
Caln1 A G 5: 130,851,825 (GRCm39) S205G probably damaging Het
Cfap54 T C 10: 92,704,672 (GRCm39) I2803V unknown Het
Cfh A C 1: 140,047,753 (GRCm39) F477V possibly damaging Het
Cldn23 A G 8: 36,293,056 (GRCm39) V144A probably damaging Het
Csmd1 A G 8: 17,077,310 (GRCm39) S116P probably damaging Het
Dgkd A T 1: 87,845,689 (GRCm39) T299S possibly damaging Het
Fam20b T G 1: 156,518,072 (GRCm39) T241P probably damaging Het
Fndc3b A T 3: 27,505,493 (GRCm39) M925K probably benign Het
Ftdc1 C A 16: 58,437,211 (GRCm39) M32I probably benign Het
Ints3 C T 3: 90,299,607 (GRCm39) R987Q probably damaging Het
Kctd10 A G 5: 114,505,316 (GRCm39) V226A probably damaging Het
Lypd2 A G 15: 74,604,881 (GRCm39) V38A probably benign Het
Map3k1 T C 13: 111,909,156 (GRCm39) R265G possibly damaging Het
Mcc C T 18: 44,601,500 (GRCm39) V610M possibly damaging Het
Mocs1 C T 17: 49,756,547 (GRCm39) R244C probably damaging Het
Nav2 A G 7: 49,103,232 (GRCm39) T677A probably damaging Het
Ngp A G 9: 110,251,421 (GRCm39) N150D probably benign Het
Nipbl C T 15: 8,388,696 (GRCm39) R308Q probably benign Het
Nsrp1 A G 11: 76,939,177 (GRCm39) probably null Het
Or2y16 A T 11: 49,334,953 (GRCm39) I92F probably damaging Het
Or4f47 T A 2: 111,972,908 (GRCm39) I206N probably damaging Het
Or52n20 A T 7: 104,320,061 (GRCm39) I51F probably damaging Het
Pbld2 A T 10: 62,889,656 (GRCm39) D146V probably benign Het
Prss22 T A 17: 24,213,701 (GRCm39) K197* probably null Het
Ptprd G T 4: 76,047,263 (GRCm39) S87R probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Slc25a35 T C 11: 68,862,798 (GRCm39) L251S probably benign Het
Slx4 A T 16: 3,803,136 (GRCm39) L1226* probably null Het
Smarca4 T C 9: 21,558,922 (GRCm39) V651A possibly damaging Het
Smarcad1 T C 6: 65,071,303 (GRCm39) F583L probably benign Het
Taf2 T C 15: 54,894,526 (GRCm39) K932E probably benign Het
Trav8d-1 A T 14: 53,016,425 (GRCm39) T104S probably benign Het
Trmt9b G A 8: 36,965,576 (GRCm39) W32* probably null Het
Trpm4 A T 7: 44,976,552 (GRCm39) V155D probably damaging Het
Ttc6 A T 12: 57,752,429 (GRCm39) Y1445F possibly damaging Het
Ttll5 C A 12: 86,067,322 (GRCm39) N1270K probably damaging Het
Usp40 G T 1: 87,895,400 (GRCm39) probably null Het
Vmn2r74 T C 7: 85,610,690 (GRCm39) M1V probably null Het
Wwox T C 8: 115,433,108 (GRCm39) V258A probably damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp770 G A 2: 114,027,508 (GRCm39) T187I probably damaging Het
Zranb2 A G 3: 157,241,969 (GRCm39) probably null Het
Zscan4-ps3 A G 7: 11,344,267 (GRCm39) Q75R probably damaging Het
Other mutations in Amigo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Amigo1 APN 3 108,095,214 (GRCm39) missense probably benign
IGL02306:Amigo1 APN 3 108,095,302 (GRCm39) missense probably benign 0.29
R0675:Amigo1 UTSW 3 108,098,985 (GRCm39) splice site probably benign
R0748:Amigo1 UTSW 3 108,095,946 (GRCm39) missense probably damaging 0.98
R1613:Amigo1 UTSW 3 108,095,536 (GRCm39) missense probably benign 0.26
R1991:Amigo1 UTSW 3 108,094,644 (GRCm39) missense probably benign 0.01
R4116:Amigo1 UTSW 3 108,095,761 (GRCm39) missense probably damaging 0.99
R4378:Amigo1 UTSW 3 108,099,069 (GRCm39) utr 3 prime probably benign
R4916:Amigo1 UTSW 3 108,094,981 (GRCm39) missense probably damaging 1.00
R5218:Amigo1 UTSW 3 108,095,086 (GRCm39) splice site probably null
R6074:Amigo1 UTSW 3 108,099,009 (GRCm39) nonsense probably null
R6971:Amigo1 UTSW 3 108,095,452 (GRCm39) missense probably benign 0.11
R7228:Amigo1 UTSW 3 108,094,546 (GRCm39) missense probably benign
R8012:Amigo1 UTSW 3 108,095,958 (GRCm39) missense probably damaging 1.00
R8498:Amigo1 UTSW 3 108,095,751 (GRCm39) missense probably benign 0.01
R8785:Amigo1 UTSW 3 108,094,666 (GRCm39) missense probably benign 0.01
R9217:Amigo1 UTSW 3 108,095,944 (GRCm39) missense probably damaging 1.00
R9667:Amigo1 UTSW 3 108,095,034 (GRCm39) missense probably benign
X0025:Amigo1 UTSW 3 108,095,435 (GRCm39) missense probably benign 0.00
X0063:Amigo1 UTSW 3 108,095,392 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- AATCTTTGCCCAGCTACACAG -3'
(R):5'- ATCCAAGAGCATCAGTTTGGG -3'

Sequencing Primer
(F):5'- AGCACTGCTGGACCTCAG -3'
(R):5'- TCCTTGATCAGTTCCACAGGAAAG -3'
Posted On 2020-06-30