Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02147:Ambra1'

281822

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 #

IGL02147

Quality Score

Status

Chromosome

Chromosomal Location

91560479-91749194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91598064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 75 (H75R)

Ref Sequence

ENSEMBL: ENSMUSP00000106949 (fasta)

Gene Model

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

AlphaFold

A2AH22

Predicted Effect

probably benign
Transcript: ENSMUST00000045699
AA Change: H75R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: H75R

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 benign
Transcript: ENSMUST00000045705
AA Change: H75R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: H75R

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 benign
Transcript: ENSMUST00000099712
AA Change: H75R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: H75R

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 benign
Transcript: ENSMUST00000111316
AA Change: H75R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: H75R

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 benign
Transcript: ENSMUST00000111317
AA Change: H75R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: H75R

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: 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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	C	19: 24,042,327 (GRCm39)		noncoding transcript	Het
Acadsb	T	A	7: 131,027,610 (GRCm39)		probably benign	Het
Arhgef28	T	A	13: 98,097,822 (GRCm39)	I931F	probably damaging	Het
Cdk5	T	C	5: 24,625,318 (GRCm39)	N165D	probably benign	Het
Col4a2	A	T	8: 11,458,140 (GRCm39)	Y272F	probably benign	Het
Csde1	T	A	3: 102,947,250 (GRCm39)	D67E	probably damaging	Het
Dhx34	T	C	7: 15,937,928 (GRCm39)	H724R	probably benign	Het
Dhx57	T	C	17: 80,567,752 (GRCm39)	D777G	possibly damaging	Het
Fat3	A	C	9: 15,907,281 (GRCm39)	V2907G	probably damaging	Het
Fst	T	C	13: 114,590,896 (GRCm39)	Y290C	probably damaging	Het
Ighg2b	A	T	12: 113,270,011 (GRCm39)	*336R	probably null	Het
Igkv4-92	C	T	6: 68,732,236 (GRCm39)	S46N	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Lgalsl2	T	A	7: 5,362,732 (GRCm39)	I121N	probably damaging	Het
Lmtk2	A	G	5: 144,093,754 (GRCm39)	M244V	possibly damaging	Het
Mcoln1	T	C	8: 3,558,379 (GRCm39)	F211S	probably benign	Het
Mib2	C	A	4: 155,742,144 (GRCm39)	R209L	probably benign	Het
Msx3	C	A	7: 139,628,798 (GRCm39)	V39L	possibly damaging	Het
Mtnr1b	A	G	9: 15,774,672 (GRCm39)	F129S	probably damaging	Het
Nr3c2	A	G	8: 77,635,696 (GRCm39)	S266G	probably damaging	Het
Nup160	G	T	2: 90,534,285 (GRCm39)	L703F	probably benign	Het
Or10c1	T	A	17: 37,521,877 (GRCm39)	Y289F	probably damaging	Het
Or5t5	A	G	2: 86,616,494 (GRCm39)	N140S	probably benign	Het
Pcyt1a	T	A	16: 32,280,916 (GRCm39)	N105K	probably damaging	Het
Pdhx	A	G	2: 102,860,686 (GRCm39)		probably benign	Het
Qpct	T	C	17: 79,378,145 (GRCm39)	V105A	probably damaging	Het
Ros1	A	C	10: 51,996,991 (GRCm39)	F1227C	probably damaging	Het
Rrp12	A	T	19: 41,874,620 (GRCm39)	V342E	probably damaging	Het
Sart3	A	G	5: 113,901,004 (GRCm39)		probably benign	Het
Slc6a18	T	A	13: 73,816,281 (GRCm39)	K366M	probably damaging	Het
Smarca4	A	G	9: 21,546,999 (GRCm39)	N175D	probably damaging	Het
Sox14	T	C	9: 99,757,598 (GRCm39)	K47R	probably damaging	Het
Trcg1	A	T	9: 57,153,132 (GRCm39)	I592F	probably benign	Het
Ush2a	T	C	1: 188,596,900 (GRCm39)	M3880T	probably benign	Het
Usp20	T	C	2: 30,896,413 (GRCm39)	F172S	probably damaging	Het
Vmn2r4	C	T	3: 64,305,782 (GRCm39)		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
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

2015-04-16