Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01620:Ambra1'

92553

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 #

IGL01620

Quality Score

Status

Chromosome

Chromosomal Location

91560479-91749194 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 91741757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045699] [ENSMUST00000045705] [ENSMUST00000099712] [ENSMUST00000111316] [ENSMUST00000111317]

AlphaFold

A2AH22

Predicted Effect

probably null
Transcript: ENSMUST00000045699

SMART Domains

Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506

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

probably null
Transcript: ENSMUST00000045705

SMART Domains

Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506

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

probably null
Transcript: ENSMUST00000099712

SMART Domains

Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506

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

probably null
Transcript: ENSMUST00000111316

SMART Domains

Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506

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

probably null
Transcript: ENSMUST00000111317

SMART Domains

Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,385 (GRCm39)	V277D	probably damaging	Het
Akap9	T	A	5: 4,010,218 (GRCm39)	V325D	probably benign	Het
Ano9	A	G	7: 140,690,352 (GRCm39)	L94P	probably damaging	Het
Atad3a	G	T	4: 155,830,535 (GRCm39)	T521K	probably damaging	Het
Bckdk	A	G	7: 127,504,948 (GRCm39)	K126E	possibly damaging	Het
Bdp1	A	T	13: 100,220,713 (GRCm39)		probably benign	Het
Btbd17	T	C	11: 114,686,599 (GRCm39)	T26A	probably benign	Het
Cadps2	G	A	6: 23,587,461 (GRCm39)	S314L	probably benign	Het
Ccl8	A	T	11: 82,007,435 (GRCm39)	Q90L	probably damaging	Het
Chit1	T	C	1: 134,078,257 (GRCm39)	V355A	probably damaging	Het
Col17a1	A	G	19: 47,656,978 (GRCm39)	I555T	possibly damaging	Het
Dmwd	T	A	7: 18,815,159 (GRCm39)		probably null	Het
Dtna	T	C	18: 23,758,144 (GRCm39)	I483T	probably damaging	Het
Eloc	T	A	1: 16,713,502 (GRCm39)		probably benign	Het
Emc7	T	A	2: 112,295,119 (GRCm39)	L177H	probably damaging	Het
Emsy	T	A	7: 98,275,831 (GRCm39)	K352I	probably damaging	Het
Ermn	T	C	2: 57,942,502 (GRCm39)	E76G	probably benign	Het
Flot1	A	T	17: 36,140,763 (GRCm39)	E203V	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,529 (GRCm39)	K266R	probably benign	Het
Iqck	A	T	7: 118,476,901 (GRCm39)	K154M	probably damaging	Het
Itgb5	T	A	16: 33,740,168 (GRCm39)	V426E	probably damaging	Het
Kash5	T	C	7: 44,839,384 (GRCm39)	D359G	probably damaging	Het
Kif13a	T	C	13: 47,018,296 (GRCm39)	K53R	probably benign	Het
Klhl2	A	T	8: 65,232,772 (GRCm39)	H168Q	probably damaging	Het
Lpcat2b	T	C	5: 107,581,759 (GRCm39)	Y363H	probably damaging	Het
Lrp6	A	T	6: 134,488,225 (GRCm39)	N290K	probably damaging	Het
Map2k3	T	C	11: 60,840,873 (GRCm39)	F301L	possibly damaging	Het
Mns1	A	G	9: 72,364,195 (GRCm39)		probably benign	Het
Nos1	A	G	5: 118,043,374 (GRCm39)		probably null	Het
Or1j17	T	A	2: 36,578,550 (GRCm39)	C179S	probably damaging	Het
Or52h7	T	A	7: 104,214,220 (GRCm39)	V264D	probably damaging	Het
Pask	A	T	1: 93,237,844 (GRCm39)	H1374Q	possibly damaging	Het
Pik3r1	G	A	13: 101,822,728 (GRCm39)	A658V	probably damaging	Het
Ppp2r2a	A	T	14: 67,307,726 (GRCm39)	F14I	probably damaging	Het
Ptprc	C	T	1: 137,996,148 (GRCm39)	E904K	possibly damaging	Het
Rab11fip4	G	T	11: 79,582,705 (GRCm39)	D591Y	possibly damaging	Het
Rab3gap2	A	G	1: 184,936,523 (GRCm39)	T29A	probably benign	Het
Rgs19	A	G	2: 181,331,381 (GRCm39)	V84A	possibly damaging	Het
Shisa6	T	G	11: 66,108,705 (GRCm39)	M391L	probably benign	Het
Sipa1l1	G	A	12: 82,469,263 (GRCm39)	G1254D	probably damaging	Het
Slfn8	A	T	11: 82,895,059 (GRCm39)	Y358*	probably null	Het
Taf3	G	T	2: 9,957,472 (GRCm39)	R232S	probably benign	Het
Terb2	T	A	2: 122,035,338 (GRCm39)	H186Q	possibly damaging	Het
Trav13n-4	T	C	14: 53,601,473 (GRCm39)	S81P	probably damaging	Het
Trim30d	G	T	7: 104,121,333 (GRCm39)	P321T	possibly damaging	Het
Tyrp1	G	T	4: 80,763,039 (GRCm39)	G309*	probably null	Het
Vps13d	C	A	4: 144,821,437 (GRCm39)	G2979V	possibly damaging	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
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
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

2013-12-09