Incidental Mutation 'R6868:Ambra1'
ID 536003
Institutional Source Beutler Lab
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 # R6868 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 91560479-91749194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91747878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1205 (S1205P)
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: S1085P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: S1085P

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: S1205P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: S1205P

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: S1114P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: S1114P

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: S1145P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: S1145P

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: S1085P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: S1085P

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: 99.4%
  • 20x: 98.0%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik A T 16: 14,436,559 (GRCm39) N204I probably damaging Het
Aasdh C T 5: 77,039,527 (GRCm39) V261M probably damaging Het
Adgrg7 A G 16: 56,593,839 (GRCm39) F126L probably benign Het
Agxt2 T C 15: 10,373,855 (GRCm39) L87P probably damaging Het
Alcam G A 16: 52,088,748 (GRCm39) S554F probably damaging Het
Bst2 A C 8: 71,987,404 (GRCm39) V150G unknown Het
C3 T C 17: 57,511,029 (GRCm39) Y1659C possibly damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cdk4 T C 10: 126,900,870 (GRCm39) V174A probably benign Het
Ces2h T A 8: 105,745,055 (GRCm39) N396K probably benign Het
Cfap144 C T 11: 58,683,732 (GRCm39) D113N probably damaging Het
Chd7 T C 4: 8,811,501 (GRCm39) probably null Het
Cnih4 A G 1: 180,993,762 (GRCm39) I76V probably null Het
Csmd2 G A 4: 128,336,633 (GRCm39) V1404I probably benign Het
Ctrb1 T C 8: 112,416,035 (GRCm39) D53G probably benign Het
Cul9 C A 17: 46,833,109 (GRCm39) R1323L possibly damaging Het
Dchs1 A G 7: 105,412,710 (GRCm39) V1230A possibly damaging Het
Dgat2 T C 7: 98,807,513 (GRCm39) D219G probably benign Het
Dgkh T C 14: 78,862,293 (GRCm39) T225A probably damaging Het
Dock9 G T 14: 121,823,676 (GRCm39) A1412E probably benign Het
Dscam C T 16: 96,631,140 (GRCm39) V292M probably damaging Het
Fras1 T A 5: 96,830,237 (GRCm39) V1509E probably benign Het
Fryl T C 5: 73,226,146 (GRCm39) Q1839R probably damaging Het
Gcat A G 15: 78,919,566 (GRCm39) D177G probably damaging Het
Gss T C 2: 155,409,732 (GRCm39) T235A possibly damaging Het
Ints10 T A 8: 69,250,450 (GRCm39) M114K probably damaging Het
Ints5 T G 19: 8,874,750 (GRCm39) L903R probably damaging Het
Lipo2 G T 19: 33,725,862 (GRCm39) P130Q possibly damaging Het
Megf11 G A 9: 64,587,591 (GRCm39) C494Y probably damaging Het
Milr1 T C 11: 106,654,747 (GRCm39) Y162H probably damaging Het
Mrc2 T A 11: 105,219,244 (GRCm39) I278N probably damaging Het
Mst1r T A 9: 107,793,132 (GRCm39) probably null Het
Myh15 G A 16: 48,889,766 (GRCm39) C119Y probably damaging Het
Nap1l1 G A 10: 111,330,669 (GRCm39) G358D probably damaging Het
Nav3 T C 10: 109,529,027 (GRCm39) I2178V possibly damaging Het
Nkx2-5 T C 17: 27,060,268 (GRCm39) E21G probably damaging Het
Nos2 C T 11: 78,848,332 (GRCm39) R967C probably benign Het
Or6c215 T C 10: 129,638,037 (GRCm39) D119G probably damaging Het
Parp10 T C 15: 76,127,306 (GRCm39) R44G probably damaging Het
Pced1b A G 15: 97,282,222 (GRCm39) H87R probably damaging Het
Ppfia3 T A 7: 45,003,036 (GRCm39) L524F probably damaging Het
Ppp1r12b T C 1: 134,814,176 (GRCm39) T376A probably benign Het
Ppp4r4 T C 12: 103,557,111 (GRCm39) L449P probably damaging Het
Prkd1 T C 12: 50,472,320 (GRCm39) R198G probably damaging Het
Pth2r C A 1: 65,427,638 (GRCm39) A437E probably benign Het
Ptprh A T 7: 4,604,864 (GRCm39) I60N probably benign Het
Pxmp2 C T 5: 110,433,846 (GRCm39) R9Q probably damaging Het
Scarb2 T C 5: 92,633,168 (GRCm39) K55E probably benign Het
Slc18b1 T C 10: 23,680,132 (GRCm39) V109A possibly damaging Het
Slx4ip T A 2: 136,842,130 (GRCm39) D18E probably damaging Het
Stk40 A G 4: 126,017,607 (GRCm39) R45G probably damaging Het
Tbxas1 A T 6: 39,061,240 (GRCm39) Q513L probably damaging Het
Tcf4 A T 18: 69,790,721 (GRCm39) probably null Het
Tmc6 T A 11: 117,665,143 (GRCm39) I377F probably benign Het
Tmem131l T C 3: 83,868,938 (GRCm39) I146V probably damaging Het
Trac T A 14: 54,458,049 (GRCm39) probably benign Het
Trpm7 T C 2: 126,679,334 (GRCm39) D409G probably damaging Het
Usp39 A T 6: 72,314,734 (GRCm39) V224E possibly damaging Het
Vmn1r184 A C 7: 25,966,727 (GRCm39) M158L probably benign Het
Vmn2r120 T A 17: 57,852,218 (GRCm39) I33L probably benign 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
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'- GCTCAGAATATGGTGGCAGTGG -3'
(R):5'- CACATTGCAGTGCATGGTTG -3'

Sequencing Primer
(F):5'- TGGCAGTGGGGAAGATGCC -3'
(R):5'- TGGTCCCTCATTGCTGGCAAG -3'
Posted On 2018-10-18