Incidental Mutation 'R5007:Ambra1'
ID 390190
Institutional Source Beutler Lab
Gene Symbol Ambra1
Ensembl Gene ENSMUSG00000040506
Gene Name autophagy/beclin 1 regulator 1
Synonyms 2310079H06Rik, D030051N19Rik
MMRRC Submission 042598-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # R5007 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 91560479-91749194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91602655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 213 (I213T)
Ref Sequence ENSEMBL: ENSMUSP00000106949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045699] [ENSMUST00000045705] [ENSMUST00000099712] [ENSMUST00000111316] [ENSMUST00000111317]
AlphaFold A2AH22
Predicted Effect possibly damaging
Transcript: ENSMUST00000045699
AA Change: I213T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: I213T

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 possibly damaging
Transcript: ENSMUST00000045705
AA Change: I213T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: I213T

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 possibly damaging
Transcript: ENSMUST00000099712
AA Change: I213T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: I213T

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 possibly damaging
Transcript: ENSMUST00000111316
AA Change: I213T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: I213T

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 possibly damaging
Transcript: ENSMUST00000111317
AA Change: I213T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: I213T

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 noncoding transcript
Transcript: ENSMUST00000124132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133490
Meta Mutation Damage Score 0.1431 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.6%
Validation Efficiency 99% (89/90)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C G 7: 27,278,192 (GRCm39) T242R probably damaging Het
Abca8b T C 11: 109,827,590 (GRCm39) T1473A probably damaging Het
Adam22 T C 5: 8,217,393 (GRCm39) Y134C probably damaging Het
Alg9 T A 9: 50,699,524 (GRCm39) M183K probably damaging Het
Ankrd55 T A 13: 112,504,466 (GRCm39) V376D probably benign Het
Ano4 A C 10: 88,948,807 (GRCm39) V166G probably benign Het
Aox3 T A 1: 58,202,583 (GRCm39) C730S probably benign Het
Apc T A 18: 34,446,016 (GRCm39) Y953N probably damaging Het
Ass1 T C 2: 31,391,544 (GRCm39) F273S possibly damaging Het
Atg2b T C 12: 105,610,135 (GRCm39) probably null Het
B3gnt9 A G 8: 105,981,122 (GRCm39) Y89H probably damaging Het
Cd38 T G 5: 44,063,506 (GRCm39) F200V probably damaging Het
Cep170 G T 1: 176,597,380 (GRCm39) R388S probably benign Het
Col22a1 A T 15: 71,816,271 (GRCm39) D614E probably damaging Het
Crybg3 C A 16: 59,378,463 (GRCm39) probably benign Het
Ctdp1 A T 18: 80,463,695 (GRCm39) S114T probably damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dmtf1 T C 5: 9,172,439 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,362,283 (GRCm39) V3715M probably damaging Het
Dok1 A T 6: 83,009,297 (GRCm39) L185H probably damaging Het
Dpep1 T C 8: 123,926,117 (GRCm39) V152A probably damaging Het
Eif2ak1 G T 5: 143,810,698 (GRCm39) R136L probably benign Het
Eml5 A T 12: 98,797,224 (GRCm39) S1063T probably damaging Het
Fam171b T A 2: 83,685,853 (GRCm39) L179* probably null Het
Flot1 G T 17: 36,135,267 (GRCm39) probably benign Het
Fmn2 A T 1: 174,571,866 (GRCm39) H1491L probably damaging Het
Frem1 C T 4: 82,859,049 (GRCm39) probably benign Het
Gdf2 A G 14: 33,666,863 (GRCm39) D195G probably benign Het
Golga4 T G 9: 118,387,368 (GRCm39) C1497G probably benign Het
Gpaa1 T A 15: 76,215,868 (GRCm39) C33* probably null Het
Hectd1 A T 12: 51,849,443 (GRCm39) C254S possibly damaging Het
Hspa1b C T 17: 35,177,086 (GRCm39) A300T probably benign Het
Igf2bp2 A G 16: 21,898,246 (GRCm39) I233T probably damaging Het
Iqce C A 5: 140,661,003 (GRCm39) A491S possibly damaging Het
Irak3 A G 10: 119,982,334 (GRCm39) probably null Het
Kcnip1 T A 11: 33,592,495 (GRCm39) H124L probably benign Het
Klhdc10 G A 6: 30,450,640 (GRCm39) R393Q probably benign Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Map2 T C 1: 66,452,448 (GRCm39) V288A possibly damaging Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Meltf A G 16: 31,706,380 (GRCm39) D288G possibly damaging Het
Mgat4e T A 1: 134,468,890 (GRCm39) I385F probably benign Het
Mical3 A C 6: 121,015,030 (GRCm39) V211G probably damaging Het
Mlh1 A G 9: 111,100,478 (GRCm39) *39R probably null Het
Mre11a A G 9: 14,721,116 (GRCm39) D345G probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Nat1 T G 8: 67,944,077 (GRCm39) L154R probably benign Het
Nlrp4a A G 7: 26,161,905 (GRCm39) D851G probably damaging Het
Npas4 A C 19: 5,039,684 (GRCm39) V54G possibly damaging Het
Or13n4 T C 7: 106,423,364 (GRCm39) Y123C probably damaging Het
Pcbp4 G A 9: 106,339,292 (GRCm39) G100R probably damaging Het
Pcdh17 A G 14: 84,770,737 (GRCm39) T1072A probably benign Het
Pcdh18 T C 3: 49,708,906 (GRCm39) N803S probably benign Het
Ppat C T 5: 77,076,525 (GRCm39) probably benign Het
Ppm1l T A 3: 69,224,931 (GRCm39) L11Q probably damaging Het
Pram1 T A 17: 33,864,411 (GRCm39) V658E probably damaging Het
Prr12 C T 7: 44,699,225 (GRCm39) probably benign Het
Prxl2b A G 4: 154,981,531 (GRCm39) probably null Het
Ptprq A G 10: 107,444,137 (GRCm39) V1489A probably benign Het
Ryr1 T A 7: 28,768,540 (GRCm39) I2817F probably damaging Het
Sall2 A G 14: 52,551,950 (GRCm39) L413P probably damaging Het
Slc7a9 T A 7: 35,153,554 (GRCm39) M185K probably benign Het
Stag2 C T X: 41,355,130 (GRCm39) H1149Y possibly damaging Het
Timm10b T A 7: 105,290,298 (GRCm39) Y64N probably damaging Het
Tmem30c T C 16: 57,086,868 (GRCm39) T312A probably benign Het
Tmem9b G T 7: 109,344,550 (GRCm39) C17* probably null Het
Vmn2r68 C A 7: 84,881,622 (GRCm39) R486L probably benign Het
Xkr9 T A 1: 13,771,387 (GRCm39) I301N probably damaging Het
Xpo7 T C 14: 70,925,704 (GRCm39) Q446R probably damaging Het
Ythdf3 T C 3: 16,259,362 (GRCm39) V503A possibly damaging Het
Zfp280b T A 10: 75,875,048 (GRCm39) V309D probably damaging Het
Zfp53 T A 17: 21,729,772 (GRCm39) C602S probably benign Het
Zfp616 A T 11: 73,974,643 (GRCm39) N395I possibly damaging Het
Zfp644 T C 5: 106,783,867 (GRCm39) I862M probably benign Het
Zfp715 T C 7: 42,949,019 (GRCm39) T314A possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGCCAGTTTTCATTACCTTATGGG -3'
(R):5'- TGATGTAAGCGGAAGTCCTG -3'

Sequencing Primer
(F):5'- TCATTACCTTATGGGGAGAGAGG -3'
(R):5'- TGGGACGCTCCGTGGAG -3'
Posted On 2016-06-06