Incidental Mutation 'R7812:Ambra1'
ID 601204
Institutional Source Beutler Lab
Gene Symbol Ambra1
Ensembl Gene ENSMUSG00000040506
Gene Name autophagy/beclin 1 regulator 1
Synonyms 2310079H06Rik, D030051N19Rik
MMRRC Submission 045867-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # R7812 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 91560479-91749194 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 91596911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000049258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045699] [ENSMUST00000045705] [ENSMUST00000099712] [ENSMUST00000111316] [ENSMUST00000111317]
AlphaFold A2AH22
Predicted Effect probably benign
Transcript: ENSMUST00000045699
AA Change: M1L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: M1L

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: M1L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: M1L

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 probably benign
Transcript: ENSMUST00000099712
AA Change: M1L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: M1L

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: M1L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: M1L

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: M1L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: M1L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,165,141 (GRCm39) C411F probably damaging Het
Abhd17c G T 7: 83,800,624 (GRCm39) Y143* probably null Het
Acad11 T G 9: 103,972,747 (GRCm39) L480R probably benign Het
Acad8 A T 9: 26,890,476 (GRCm39) N277K probably damaging Het
Adcy10 A G 1: 165,342,938 (GRCm39) Y268C probably damaging Het
Adm2 A T 15: 89,208,367 (GRCm39) R102S possibly damaging Het
Angpt2 T C 8: 18,742,161 (GRCm39) N465S probably benign Het
Arhgap17 T C 7: 122,879,290 (GRCm39) I820M unknown Het
Atf7ip G A 6: 136,580,415 (GRCm39) R1113Q probably damaging Het
Atp5pb A G 3: 105,851,157 (GRCm39) V180A probably benign Het
Auts2 C T 5: 131,501,284 (GRCm39) R43H Het
Cacna1g A T 11: 94,334,880 (GRCm39) I809N probably benign Het
Cand1 A T 10: 119,053,864 (GRCm39) M158K probably benign Het
Cars1 T A 7: 143,123,784 (GRCm39) I500F probably damaging Het
Ccdc18 T A 5: 108,328,699 (GRCm39) M706K probably benign Het
Ccdc180 G A 4: 45,906,952 (GRCm39) probably null Het
Ces1f A G 8: 93,984,938 (GRCm39) V463A probably benign Het
Cndp1 G T 18: 84,655,994 (GRCm39) D58E probably benign Het
Csnk2b A T 17: 35,339,431 (GRCm39) F21Y probably benign Het
Dgkg C G 16: 22,385,165 (GRCm39) R447T probably damaging Het
Dnajc12 A G 10: 63,242,905 (GRCm39) D141G probably benign Het
Edar A G 10: 58,465,926 (GRCm39) V4A probably benign Het
Elf1 A G 14: 79,802,998 (GRCm39) D117G probably damaging Het
Fam124b T C 1: 80,191,351 (GRCm39) T11A probably damaging Het
Fgl2 C A 5: 21,577,896 (GRCm39) T61K probably benign Het
Furin T C 7: 80,045,722 (GRCm39) N218S possibly damaging Het
Gcn1 T A 5: 115,731,751 (GRCm39) H955Q possibly damaging Het
Gucy2e A G 11: 69,117,069 (GRCm39) I784T probably damaging Het
Ice1 T A 13: 70,751,124 (GRCm39) Q1654L possibly damaging Het
Klhl28 T C 12: 64,990,363 (GRCm39) N526S possibly damaging Het
Ldlrad4 C A 18: 68,239,742 (GRCm39) P54Q probably benign Het
Lsm14a A G 7: 34,088,301 (GRCm39) probably benign Het
Mdga1 A G 17: 30,062,115 (GRCm39) V438A probably benign Het
Mrto4 A G 4: 139,075,278 (GRCm39) V175A possibly damaging Het
Nav2 T G 7: 49,246,921 (GRCm39) S2149A probably benign Het
Nr4a2 A G 2: 57,002,430 (GRCm39) Y8H probably damaging Het
Or10q12 T C 19: 13,746,380 (GRCm39) F225L probably benign Het
Or1j12 T A 2: 36,343,290 (GRCm39) I231N probably benign Het
Or1j18 A T 2: 36,624,737 (GRCm39) M135L probably benign Het
Or52e4 T C 7: 104,705,894 (GRCm39) L147P possibly damaging Het
Oxr1 T A 15: 41,615,138 (GRCm39) M1K probably null Het
Pbx3 T C 2: 34,114,478 (GRCm39) Y152C probably damaging Het
Pcdhb13 T A 18: 37,575,645 (GRCm39) C8S probably benign Het
Polr1c G A 17: 46,557,053 (GRCm39) R77W probably damaging Het
Psg25 A T 7: 18,255,093 (GRCm39) N474K possibly damaging Het
Ralgapa1 T A 12: 55,766,413 (GRCm39) M838L possibly damaging Het
Ranbp2 A G 10: 58,303,224 (GRCm39) T799A probably benign Het
Sbf2 C T 7: 110,049,170 (GRCm39) V265I possibly damaging Het
Scarf2 G A 16: 17,621,692 (GRCm39) G381R probably damaging Het
Shprh A G 10: 11,027,735 (GRCm39) Q114R probably benign Het
Sipa1l2 A C 8: 126,218,334 (GRCm39) D334E probably damaging Het
Slc26a4 T A 12: 31,594,449 (GRCm39) I300F probably damaging Het
Sox7 C T 14: 64,185,681 (GRCm39) T239I probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,659,927 (GRCm39) H129N probably benign Het
Stxbp4 A G 11: 90,485,654 (GRCm39) L231P probably damaging Het
Syngap1 A C 17: 27,160,478 (GRCm39) Y18S probably benign Het
Tenm3 T C 8: 48,729,335 (GRCm39) Y1557C probably benign Het
Trim44 G T 2: 102,230,489 (GRCm39) P181T possibly damaging Het
Trp53i13 A T 11: 77,399,666 (GRCm39) V221D possibly damaging Het
Trpm7 A G 2: 126,641,236 (GRCm39) S1554P probably damaging Het
Vcl A G 14: 21,045,158 (GRCm39) N288D probably benign Het
Vmn2r59 A T 7: 41,695,196 (GRCm39) Y405* probably null Het
Vps35 T C 8: 86,010,818 (GRCm39) D175G probably benign Het
Wdr90 A T 17: 26,071,532 (GRCm39) L949Q probably damaging Het
Wwp1 G A 4: 19,639,991 (GRCm39) T517I probably damaging Het
Zfp462 T G 4: 55,008,509 (GRCm39) F158L probably benign Het
Zfp703 T A 8: 27,469,906 (GRCm39) H523Q 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
IGL02173:Ambra1 APN 2 91,748,013 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GAGCCTCTCTGGTGTAGAATAG -3'
(R):5'- TTAGCTATATCAAGTCTCAGGGAC -3'

Sequencing Primer
(F):5'- CTGGTGTAGAATAGGCATTATTTGAC -3'
(R):5'- CAAAGGTGCCAATTTACTGTCATCTC -3'
Posted On 2019-11-26