Incidental Mutation 'R4378:Amigo1'
ID 325182
Institutional Source Beutler Lab
Gene Symbol Amigo1
Ensembl Gene ENSMUSG00000050947
Gene Name adhesion molecule with Ig like domain 1
Synonyms
MMRRC Submission 041121-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4378 (G1)
Quality Score 171
Status Validated
Chromosome 3
Chromosomal Location 108093651-108099602 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) C to T at 108099069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000050909] [ENSMUST00000065664] [ENSMUST00000106655] [ENSMUST00000106656] [ENSMUST00000106659]
AlphaFold Q80ZD8
Predicted Effect probably benign
Transcript: ENSMUST00000050909
SMART Domains Protein: ENSMUSP00000061244
Gene: ENSMUSG00000050947

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 benign
Transcript: ENSMUST00000065664
SMART Domains Protein: ENSMUSP00000070361
Gene: ENSMUSG00000048796

DomainStartEndE-ValueType
B561 1 127 5.49e-40 SMART
transmembrane domain 138 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106655
SMART Domains Protein: ENSMUSP00000102266
Gene: ENSMUSG00000048796

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
B561 54 185 4.96e-47 SMART
transmembrane domain 196 218 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106656
SMART Domains Protein: ENSMUSP00000102267
Gene: ENSMUSG00000050947

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 benign
Transcript: ENSMUST00000106659
SMART Domains Protein: ENSMUSP00000102270
Gene: ENSMUSG00000050947

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155099
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,644 (GRCm39) K1836E probably benign Het
Adora1 A G 1: 134,130,948 (GRCm39) F241S probably damaging Het
Akt1s1 C T 7: 44,503,384 (GRCm39) T168M probably damaging Het
Amigo2 A G 15: 97,143,859 (GRCm39) F188L possibly damaging Het
Armc2 T C 10: 41,869,078 (GRCm39) T29A possibly damaging Het
Axl G A 7: 25,458,262 (GRCm39) A822V probably benign Het
Borcs5 T C 6: 134,621,292 (GRCm39) V21A probably benign Het
Cdc42ep3 A G 17: 79,642,408 (GRCm39) S171P probably benign Het
Cmas T C 6: 142,718,011 (GRCm39) probably benign Het
Cyp4f40 A G 17: 32,887,003 (GRCm39) N158S probably null Het
Dnah6 G T 6: 73,095,009 (GRCm39) N2139K probably benign Het
Elmo1 A T 13: 20,557,286 (GRCm39) H409L possibly damaging Het
Exoc1l A G 5: 76,648,380 (GRCm39) K62R probably damaging Het
Exoc4 T A 6: 33,792,622 (GRCm39) V584E probably damaging Het
Gm9116 A G 3: 93,817,786 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,710,161 (GRCm39) S101G probably benign Het
Hsph1 C A 5: 149,559,472 (GRCm39) E24* probably null Het
Ighv1-56 C T 12: 115,206,568 (GRCm39) E50K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrriq1 A T 10: 103,038,225 (GRCm39) D859E probably damaging Het
Mapk7 G A 11: 61,384,493 (GRCm39) S71L probably damaging Het
Nars1 A G 18: 64,634,424 (GRCm39) Y500H probably damaging Het
Or1j1 T C 2: 36,702,481 (GRCm39) M208V probably benign Het
Or5d20-ps1 G T 2: 87,931,829 (GRCm39) N167K unknown Het
Phc1 T C 6: 122,311,966 (GRCm39) N64S possibly damaging Het
Ppp4r3b T A 11: 29,159,450 (GRCm39) N180K possibly damaging Het
Primpol G A 8: 47,029,218 (GRCm39) probably benign Het
Prtg T C 9: 72,750,042 (GRCm39) S149P possibly damaging Het
Qrich2 T C 11: 116,337,741 (GRCm39) S1916G probably damaging Het
Rps6ka5 A T 12: 100,564,196 (GRCm39) Y218N probably damaging Het
Setbp1 T C 18: 78,899,833 (GRCm39) D1278G possibly damaging Het
Sirt1 C T 10: 63,174,728 (GRCm39) A8T probably benign Het
Sobp C T 10: 42,897,300 (GRCm39) V762I probably damaging Het
Sptan1 T C 2: 29,915,581 (GRCm39) S1994P probably damaging Het
Taok3 T C 5: 117,347,636 (GRCm39) I87T probably damaging Het
Tecta T C 9: 42,278,004 (GRCm39) Y1168C probably damaging Het
Trhr A G 15: 44,061,023 (GRCm39) Y181C probably damaging Het
Ube4b C T 4: 149,468,255 (GRCm39) D174N probably damaging Het
Ubr4 C T 4: 139,137,751 (GRCm39) H1067Y possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Vmn2r88 T A 14: 51,650,746 (GRCm39) L153* probably null Het
Zfp516 T A 18: 83,005,305 (GRCm39) D736E probably benign Het
Zfp612 G T 8: 110,815,683 (GRCm39) V258F possibly 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
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
R8119:Amigo1 UTSW 3 108,094,852 (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'- ATCTATGGGGCCCCTGAAAGAG -3'
(R):5'- TTATAAAACGCTCTGCCTTGGG -3'

Sequencing Primer
(F):5'- GCCCCTGAAAGAGGCCAG -3'
(R):5'- ATAGATGGTGAATCCTCTACGGCC -3'
Posted On 2015-07-06