Incidental Mutation 'IGL02173:Ambra1'
ID 282984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ambra1
Ensembl Gene ENSMUSG00000040506
Gene Name autophagy/beclin 1 regulator 1
Synonyms 2310079H06Rik, D030051N19Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # IGL02173
Quality Score
Status
Chromosome 2
Chromosomal Location 91560479-91749194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91748013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1130 (S1130P)
Ref Sequence ENSEMBL: ENSMUSP00000106949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045699] [ENSMUST00000045705] [ENSMUST00000099712] [ENSMUST00000111316] [ENSMUST00000111317]
AlphaFold A2AH22
Predicted Effect probably benign
Transcript: ENSMUST00000045699
AA Change: S1130P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: S1130P

DomainStartEndE-ValueType
WD40 50 81 4.11e1 SMART
WD40 84 124 1.16e-9 SMART
WD40 126 164 1.19e0 SMART
low complexity region 351 361 N/A INTRINSIC
low complexity region 393 404 N/A INTRINSIC
low complexity region 538 554 N/A INTRINSIC
low complexity region 591 603 N/A INTRINSIC
low complexity region 636 643 N/A INTRINSIC
Blast:WD40 812 850 1e-5 BLAST
Blast:WD40 871 918 1e-7 BLAST
low complexity region 942 954 N/A INTRINSIC
low complexity region 1002 1026 N/A INTRINSIC
low complexity region 1127 1143 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045705
AA Change: S1250P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: S1250P

DomainStartEndE-ValueType
WD40 50 81 4.11e1 SMART
WD40 84 124 1.16e-9 SMART
WD40 126 164 1.19e0 SMART
low complexity region 267 285 N/A INTRINSIC
low complexity region 442 452 N/A INTRINSIC
low complexity region 484 495 N/A INTRINSIC
low complexity region 629 645 N/A INTRINSIC
low complexity region 682 704 N/A INTRINSIC
low complexity region 756 763 N/A INTRINSIC
Blast:WD40 932 970 1e-5 BLAST
Blast:WD40 991 1038 1e-7 BLAST
low complexity region 1062 1074 N/A INTRINSIC
low complexity region 1122 1146 N/A INTRINSIC
low complexity region 1247 1263 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099710
Predicted Effect probably benign
Transcript: ENSMUST00000099712
AA Change: S1159P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: S1159P

DomainStartEndE-ValueType
WD40 50 81 4.11e1 SMART
WD40 84 124 1.16e-9 SMART
WD40 126 164 1.19e0 SMART
low complexity region 351 361 N/A INTRINSIC
low complexity region 393 404 N/A INTRINSIC
low complexity region 538 554 N/A INTRINSIC
low complexity region 591 613 N/A INTRINSIC
low complexity region 665 672 N/A INTRINSIC
Blast:WD40 841 879 1e-5 BLAST
Blast:WD40 900 947 1e-7 BLAST
low complexity region 971 983 N/A INTRINSIC
low complexity region 1031 1055 N/A INTRINSIC
low complexity region 1156 1172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111316
AA Change: S1190P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: S1190P

DomainStartEndE-ValueType
WD40 50 81 4.11e1 SMART
WD40 84 124 1.16e-9 SMART
WD40 126 164 1.19e0 SMART
low complexity region 267 285 N/A INTRINSIC
low complexity region 442 452 N/A INTRINSIC
low complexity region 484 495 N/A INTRINSIC
low complexity region 629 645 N/A INTRINSIC
low complexity region 682 704 N/A INTRINSIC
Blast:WD40 872 910 1e-5 BLAST
Blast:WD40 931 978 1e-7 BLAST
low complexity region 1002 1014 N/A INTRINSIC
low complexity region 1062 1086 N/A INTRINSIC
low complexity region 1187 1203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111317
AA Change: S1130P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: S1130P

DomainStartEndE-ValueType
WD40 50 81 4.11e1 SMART
WD40 84 124 1.16e-9 SMART
WD40 126 164 1.19e0 SMART
low complexity region 351 361 N/A INTRINSIC
low complexity region 393 404 N/A INTRINSIC
low complexity region 538 554 N/A INTRINSIC
low complexity region 591 603 N/A INTRINSIC
low complexity region 636 643 N/A INTRINSIC
Blast:WD40 812 850 1e-5 BLAST
Blast:WD40 871 918 1e-7 BLAST
low complexity region 942 954 N/A INTRINSIC
low complexity region 1002 1026 N/A INTRINSIC
low complexity region 1127 1143 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Most mice homozygous for a gene trap mutation die at E10-E14.5 with severe neural tube defects manifest as midbrain/hindbrain exencephaly and/or spina bifida and associated with impaired autophagy, accumulation of ubiquitinated proteins, abnormal cell proliferation and excessive apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,061,754 (GRCm39) H68L possibly damaging Het
4930533K18Rik A G 10: 70,708,060 (GRCm39) noncoding transcript Het
4933409G03Rik A G 2: 68,443,401 (GRCm39) T182A unknown Het
Abca2 T A 2: 25,331,909 (GRCm39) D1340E probably benign Het
Abcc12 G A 8: 87,293,071 (GRCm39) A39V probably damaging Het
Acap2 T C 16: 30,926,965 (GRCm39) R510G possibly damaging Het
Ace G T 11: 105,879,817 (GRCm39) R719L probably benign Het
Adarb1 A C 10: 77,157,659 (GRCm39) F263V probably damaging Het
Ahcyl T C 16: 45,974,441 (GRCm39) N312S probably benign Het
Aqp7 A T 4: 41,034,379 (GRCm39) L260* probably null Het
Cntn5 G T 9: 9,748,401 (GRCm39) S493R probably damaging Het
Crhr2 A G 6: 55,080,165 (GRCm39) F138S probably damaging Het
D2hgdh T A 1: 93,757,611 (GRCm39) D175E probably benign Het
Dtx4 G T 19: 12,450,621 (GRCm39) Y530* probably null Het
Elp4 T A 2: 105,533,088 (GRCm39) H419L probably damaging Het
Etv6 A G 6: 134,225,690 (GRCm39) D218G possibly damaging Het
Exoc5 A G 14: 49,272,258 (GRCm39) probably benign Het
Fyb1 C T 15: 6,610,176 (GRCm39) P250S probably benign Het
Gaa A G 11: 119,165,739 (GRCm39) Y84C probably damaging Het
Galns A T 8: 123,325,365 (GRCm39) S262R probably damaging Het
Gfus A G 15: 75,798,034 (GRCm39) S233P probably damaging Het
Kctd16 T C 18: 40,663,906 (GRCm39) I345T probably benign Het
Lats2 A G 14: 57,934,717 (GRCm39) V671A probably damaging Het
Maml3 C A 3: 51,598,208 (GRCm39) L179F probably damaging Het
Myo1f T C 17: 33,826,318 (GRCm39) L1089P probably damaging Het
Nadsyn1 A T 7: 143,357,743 (GRCm39) probably benign Het
Or1e34 A G 11: 73,778,949 (GRCm39) M83T possibly damaging Het
Or51k1 G A 7: 103,661,037 (GRCm39) P291S probably damaging Het
Or7d9 T C 9: 20,197,691 (GRCm39) V240A probably benign Het
Or9i1 A G 19: 13,839,378 (GRCm39) T74A probably benign Het
Otog T C 7: 45,926,165 (GRCm39) probably benign Het
Pcbd1 A G 10: 60,927,983 (GRCm39) probably benign Het
Pced1a A G 2: 130,264,248 (GRCm39) V164A possibly damaging Het
Pgd A G 4: 149,241,210 (GRCm39) I233T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sec24d A T 3: 123,147,330 (GRCm39) H733L probably damaging Het
Slc1a2 T A 2: 102,574,206 (GRCm39) N205K probably benign Het
Sstr2 G T 11: 113,515,842 (GRCm39) V254L probably damaging Het
Tm9sf2 G T 14: 122,380,835 (GRCm39) V308F probably benign Het
Tor3a T C 1: 156,501,776 (GRCm39) K34E probably benign Het
Ubr4 T A 4: 139,164,381 (GRCm39) probably null Het
Vmn1r56 A G 7: 5,199,117 (GRCm39) S167P probably damaging Het
Zswim3 T A 2: 164,662,759 (GRCm39) I413N probably damaging Het
Other mutations in Ambra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Ambra1 APN 2 91,741,934 (GRCm39) missense probably benign 0.01
IGL00861:Ambra1 APN 2 91,601,271 (GRCm39) missense possibly damaging 0.81
IGL00911:Ambra1 APN 2 91,598,027 (GRCm39) splice site probably benign
IGL01371:Ambra1 APN 2 91,655,631 (GRCm39) missense probably damaging 1.00
IGL01532:Ambra1 APN 2 91,715,977 (GRCm39) missense probably damaging 1.00
IGL01620:Ambra1 APN 2 91,741,757 (GRCm39) critical splice acceptor site probably null
IGL02147:Ambra1 APN 2 91,598,064 (GRCm39) missense probably benign 0.01
IGL02170:Ambra1 APN 2 91,597,432 (GRCm39) missense possibly damaging 0.66
IGL02212:Ambra1 APN 2 91,747,706 (GRCm39) missense probably damaging 1.00
IGL02256:Ambra1 APN 2 91,599,399 (GRCm39) missense possibly damaging 0.95
IGL02319:Ambra1 APN 2 91,717,265 (GRCm39) missense probably damaging 1.00
IGL02502:Ambra1 APN 2 91,730,877 (GRCm39) missense probably damaging 1.00
IGL02961:Ambra1 APN 2 91,741,793 (GRCm39) missense possibly damaging 0.86
R0003:Ambra1 UTSW 2 91,741,773 (GRCm39) missense probably damaging 1.00
R0098:Ambra1 UTSW 2 91,598,056 (GRCm39) missense possibly damaging 0.66
R0173:Ambra1 UTSW 2 91,640,564 (GRCm39) splice site probably benign
R0414:Ambra1 UTSW 2 91,706,084 (GRCm39) missense possibly damaging 0.84
R0579:Ambra1 UTSW 2 91,654,810 (GRCm39) missense possibly damaging 0.66
R1212:Ambra1 UTSW 2 91,599,381 (GRCm39) missense possibly damaging 0.94
R1241:Ambra1 UTSW 2 91,601,241 (GRCm39) splice site probably benign
R1467:Ambra1 UTSW 2 91,716,048 (GRCm39) missense probably damaging 1.00
R1467:Ambra1 UTSW 2 91,716,048 (GRCm39) missense probably damaging 1.00
R1533:Ambra1 UTSW 2 91,717,210 (GRCm39) missense probably damaging 1.00
R1916:Ambra1 UTSW 2 91,741,806 (GRCm39) missense probably damaging 1.00
R2080:Ambra1 UTSW 2 91,716,064 (GRCm39) missense probably damaging 1.00
R2083:Ambra1 UTSW 2 91,596,945 (GRCm39) missense possibly damaging 0.83
R2112:Ambra1 UTSW 2 91,706,132 (GRCm39) missense probably damaging 1.00
R2255:Ambra1 UTSW 2 91,747,806 (GRCm39) missense probably damaging 1.00
R3407:Ambra1 UTSW 2 91,740,652 (GRCm39) missense probably damaging 1.00
R3732:Ambra1 UTSW 2 91,640,476 (GRCm39) missense probably damaging 1.00
R4111:Ambra1 UTSW 2 91,730,903 (GRCm39) missense probably damaging 1.00
R4792:Ambra1 UTSW 2 91,603,191 (GRCm39) missense possibly damaging 0.66
R4879:Ambra1 UTSW 2 91,603,039 (GRCm39) intron probably benign
R5007:Ambra1 UTSW 2 91,602,655 (GRCm39) missense possibly damaging 0.79
R5261:Ambra1 UTSW 2 91,715,951 (GRCm39) missense probably damaging 1.00
R6141:Ambra1 UTSW 2 91,706,099 (GRCm39) missense probably damaging 1.00
R6364:Ambra1 UTSW 2 91,603,661 (GRCm39) missense possibly damaging 0.66
R6413:Ambra1 UTSW 2 91,599,429 (GRCm39) missense possibly damaging 0.92
R6868:Ambra1 UTSW 2 91,747,878 (GRCm39) missense possibly damaging 0.83
R6888:Ambra1 UTSW 2 91,599,372 (GRCm39) missense probably damaging 1.00
R6964:Ambra1 UTSW 2 91,747,761 (GRCm39) nonsense probably null
R6970:Ambra1 UTSW 2 91,602,945 (GRCm39) intron probably benign
R6982:Ambra1 UTSW 2 91,747,818 (GRCm39) missense probably damaging 1.00
R7205:Ambra1 UTSW 2 91,598,103 (GRCm39) missense possibly damaging 0.46
R7458:Ambra1 UTSW 2 91,748,029 (GRCm39) missense probably benign 0.26
R7786:Ambra1 UTSW 2 91,598,141 (GRCm39) missense possibly damaging 0.46
R7812:Ambra1 UTSW 2 91,596,911 (GRCm39) start codon destroyed probably benign 0.00
R7825:Ambra1 UTSW 2 91,598,106 (GRCm39) missense probably damaging 1.00
R7860:Ambra1 UTSW 2 91,603,838 (GRCm39) missense probably benign 0.27
R8190:Ambra1 UTSW 2 91,602,697 (GRCm39) missense possibly damaging 0.95
R8779:Ambra1 UTSW 2 91,747,719 (GRCm39) missense probably benign 0.05
R9044:Ambra1 UTSW 2 91,740,434 (GRCm39) intron probably benign
R9062:Ambra1 UTSW 2 91,740,662 (GRCm39) missense possibly damaging 0.82
R9707:Ambra1 UTSW 2 91,640,476 (GRCm39) missense probably damaging 1.00
Z1177:Ambra1 UTSW 2 91,730,953 (GRCm39) missense possibly damaging 0.82
Z1177:Ambra1 UTSW 2 91,706,131 (GRCm39) missense probably damaging 0.97
Z1177:Ambra1 UTSW 2 91,599,344 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16