Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02256:Ambra1'

286590

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: 0.912) question?

Stock #

IGL02256

Quality Score

Status

Chromosome

Chromosomal Location

91560479-91749194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91599399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 173 (V173E)

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: V173E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: V173E

Domain	Start	End	E-Value	Type
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: V173E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: V173E

Domain	Start	End	E-Value	Type
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: V173E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: V173E

Domain	Start	End	E-Value	Type
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: V173E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: V173E

Domain	Start	End	E-Value	Type
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: V173E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: V173E

Domain	Start	End	E-Value	Type
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: ENSMUST00000133490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156496

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dennd4c	A	G	4: 86,717,778 (GRCm39)	T592A	probably damaging	Het
Dhcr24	G	A	4: 106,429,517 (GRCm39)	G197S	probably damaging	Het
Fat1	A	G	8: 45,403,369 (GRCm39)	Y40C	probably damaging	Het
Fbxl17	A	C	17: 63,806,085 (GRCm39)	C310G	probably benign	Het
H2bc8	G	T	13: 23,755,609 (GRCm39)	M1I	probably null	Het
Hdac10	T	C	15: 89,010,097 (GRCm39)		probably benign	Het
Mcm6	A	G	1: 128,263,465 (GRCm39)		probably null	Het
Mrpl19	G	A	6: 81,941,300 (GRCm39)	T87I	probably benign	Het
Mzf1	A	G	7: 12,786,664 (GRCm39)		probably benign	Het
Nhlrc2	A	G	19: 56,585,793 (GRCm39)	E676G	probably benign	Het
Notch3	T	C	17: 32,351,298 (GRCm39)	D1899G	probably damaging	Het
Nxph1	A	G	6: 9,247,185 (GRCm39)	D52G	probably benign	Het
Or10g9b	A	G	9: 39,917,349 (GRCm39)	F299L	probably benign	Het
Or10j2	A	T	1: 173,098,194 (GRCm39)	I151F	probably benign	Het
Or2aj6	T	C	16: 19,443,756 (GRCm39)	I31M	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or8b3b	A	T	9: 38,584,776 (GRCm39)	M1K	probably null	Het
Or8b49	G	A	9: 38,505,840 (GRCm39)	V108I	probably benign	Het
Pax6	T	C	2: 105,515,115 (GRCm39)	V54A	probably benign	Het
Pbx1	A	T	1: 168,011,171 (GRCm39)	H376Q	possibly damaging	Het
Prpf4b	T	A	13: 35,083,861 (GRCm39)	C877S	probably damaging	Het
Robo3	A	G	9: 37,336,649 (GRCm39)	L373P	probably damaging	Het
Samd9l	G	A	6: 3,376,197 (GRCm39)	R355W	probably damaging	Het
Smarce1	A	T	11: 99,110,206 (GRCm39)	N127K	possibly damaging	Het
Sptbn1	T	C	11: 30,070,990 (GRCm39)	I1511V	probably benign	Het
Stab1	C	T	14: 30,863,549 (GRCm39)	R2071H	probably damaging	Het
Svep1	A	T	4: 58,070,311 (GRCm39)	C2492S	possibly damaging	Het
Tbr1	C	A	2: 61,635,218 (GRCm39)	T56N	probably damaging	Het
Thoc2l	T	A	5: 104,668,149 (GRCm39)	Y890*	probably null	Het
Tlr6	T	C	5: 65,112,287 (GRCm39)	T207A	probably benign	Het
Tmem241	A	G	18: 12,246,489 (GRCm39)	W54R	probably damaging	Het
Tmem87a	A	G	2: 120,208,377 (GRCm39)	V326A	probably damaging	Het
Trappc14	C	A	5: 138,258,577 (GRCm39)	D557Y	probably damaging	Het
Uroc1	A	G	6: 90,323,669 (GRCm39)	D372G	possibly damaging	Het
Zc3h7a	A	C	16: 10,965,140 (GRCm39)	S664R	probably benign	Het

Other mutations in Ambra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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