Incidental Mutation 'R0675:Amigo1'
ID 61593
Institutional Source Beutler Lab
Gene Symbol Amigo1
Ensembl Gene ENSMUSG00000050947
Gene Name adhesion molecule with Ig like domain 1
Synonyms
MMRRC Submission 038860-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0675 (G1)
Quality Score 119
Status Validated
Chromosome 3
Chromosomal Location 108093651-108099602 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 108098985 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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (88/91)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 36,024,124 (GRCm39) probably benign Het
Aire T C 10: 77,870,327 (GRCm39) probably benign Het
Akap12 T C 10: 4,303,315 (GRCm39) S42P probably benign Het
Angptl3 A G 4: 98,921,499 (GRCm39) T206A probably benign Het
Ank1 T A 8: 23,600,400 (GRCm39) probably benign Het
Ano5 A T 7: 51,224,558 (GRCm39) T472S probably damaging Het
Arid3c T C 4: 41,725,958 (GRCm39) D215G probably damaging Het
Cd200 T C 16: 45,217,473 (GRCm39) I73V probably benign Het
Cd47 T C 16: 49,727,162 (GRCm39) I318T possibly damaging Het
Cep290 A G 10: 100,404,675 (GRCm39) probably null Het
Cep350 A G 1: 155,835,499 (GRCm39) S66P possibly damaging Het
Cfap46 C T 7: 139,255,950 (GRCm39) C300Y probably damaging Het
Chd1 T A 17: 15,978,523 (GRCm39) probably benign Het
Chd5 C A 4: 152,470,407 (GRCm39) T1913K probably benign Het
Cimip3 T C 17: 47,724,701 (GRCm39) E140G probably benign Het
Clec4b1 A G 6: 123,048,405 (GRCm39) Y180C probably damaging Het
Cntnap5c A T 17: 58,341,990 (GRCm39) D227V probably damaging Het
Col19a1 C G 1: 24,614,536 (GRCm39) probably benign Het
Csmd1 A T 8: 16,208,145 (GRCm39) M1270K probably benign Het
Cyp2c66 T A 19: 39,175,060 (GRCm39) F487I possibly damaging Het
Dpp8 T C 9: 64,973,784 (GRCm39) probably benign Het
Duoxa1 A T 2: 122,136,861 (GRCm39) probably benign Het
Edil3 A G 13: 89,325,399 (GRCm39) K263E probably damaging Het
Fat2 A G 11: 55,200,035 (GRCm39) L1013P probably damaging Het
Fras1 T C 5: 96,815,246 (GRCm39) probably benign Het
Gab1 A G 8: 81,496,297 (GRCm39) S668P probably damaging Het
Galnt14 T C 17: 73,852,030 (GRCm39) T130A probably damaging Het
Gm10192 G A 4: 97,071,109 (GRCm39) H99Y unknown Het
Gm5592 A G 7: 40,938,811 (GRCm39) T698A possibly damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Gsdma3 A G 11: 98,522,017 (GRCm39) K149R probably benign Het
Igkv4-71 A G 6: 69,220,411 (GRCm39) S29P probably damaging Het
Igsf10 C T 3: 59,236,015 (GRCm39) V1389I probably benign Het
Ik T C 18: 36,880,386 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,962 (GRCm39) P1203S probably damaging Het
Iqsec2 G A X: 150,987,120 (GRCm39) E398K possibly damaging Het
Jmjd6 A G 11: 116,731,353 (GRCm39) V232A probably damaging Het
Klhdc9 G A 1: 171,187,895 (GRCm39) T112M possibly damaging Het
Marcks A G 10: 37,017,181 (GRCm39) probably benign Het
Mctp2 T A 7: 71,732,918 (GRCm39) T829S probably damaging Het
Mroh2a C A 1: 88,156,102 (GRCm39) A78E probably damaging Het
Mroh2a G A 1: 88,178,064 (GRCm39) D1053N probably damaging Het
Mtmr14 A T 6: 113,247,608 (GRCm39) H518L probably damaging Het
Myo5c T C 9: 75,185,571 (GRCm39) M978T probably benign Het
Nlrc3 T C 16: 3,766,775 (GRCm39) I1015V probably benign Het
Nlrp5 C A 7: 23,116,842 (GRCm39) Q189K possibly damaging Het
Or1e26 A C 11: 73,480,078 (GRCm39) L162R probably damaging Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or51f1d A G 7: 102,700,909 (GRCm39) I135V probably benign Het
Or8k35 T C 2: 86,424,423 (GRCm39) I250V probably benign Het
Otof T A 5: 30,539,705 (GRCm39) Y1051F probably benign Het
Pcdhb14 C A 18: 37,581,392 (GRCm39) T166K possibly damaging Het
Pla2g4e A G 2: 120,030,679 (GRCm39) probably benign Het
Polr3gl T C 3: 96,489,471 (GRCm39) E20G probably damaging Het
Psmd1 A G 1: 86,009,761 (GRCm39) D295G probably benign Het
Ptpn21 C A 12: 98,654,475 (GRCm39) A831S probably benign Het
Pwwp3a T A 10: 80,065,914 (GRCm39) V56E probably damaging Het
Rd3l T C 12: 111,946,596 (GRCm39) D60G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,332,660 (GRCm39) D2624G probably benign Het
Sec31a T C 5: 100,541,066 (GRCm39) D347G probably damaging Het
Sema4g G A 19: 44,986,026 (GRCm39) R289H probably damaging Het
Sema5b C T 16: 35,480,703 (GRCm39) T761I probably benign Het
Septin1 A T 7: 126,816,171 (GRCm39) F86L probably damaging Het
Shank3 T C 15: 89,415,591 (GRCm39) V627A possibly damaging Het
Slc25a46 C A 18: 31,742,641 (GRCm39) G75V probably benign Het
Slc45a2 T A 15: 11,025,864 (GRCm39) Y405N probably damaging Het
Spidr T C 16: 15,855,498 (GRCm39) E339G probably damaging Het
Sptbn1 A T 11: 30,067,903 (GRCm39) H1770Q probably damaging Het
Srgap1 T C 10: 121,628,140 (GRCm39) Y944C probably damaging Het
Supt20 C T 3: 54,614,390 (GRCm39) T169I probably damaging Het
Tie1 G A 4: 118,336,966 (GRCm39) Q587* probably null Het
Tmem214 A G 5: 31,029,169 (GRCm39) T203A possibly damaging Het
Tmprss15 C A 16: 78,782,838 (GRCm39) S742I probably damaging Het
Wdr87-ps T C 7: 29,231,942 (GRCm39) noncoding transcript Het
Zfhx2 A G 14: 55,300,620 (GRCm39) V2377A probably damaging Het
Zfp763 G A 17: 33,238,774 (GRCm39) H124Y possibly damaging Het
Zfp846 T C 9: 20,504,853 (GRCm39) S238P probably benign 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
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
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'- AGGATAGCCTTCACCTCATCTGTACC -3'
(R):5'- AACGCTCTGCCTTGGGCATTTC -3'

Sequencing Primer
(F):5'- TCATCTGTACCCATAAACTGTATCAC -3'
(R):5'- aaacagactgctatactgggac -3'
Posted On 2013-07-30