Mutagenetix > Incidental Mutation

Incidental Mutation 'R7205:Ambra1'

560494

Institutional Source

Beutler Lab

Gene Symbol

Ambra1

Ensembl Gene

ENSMUSG00000040506

Gene Name

autophagy/beclin 1 regulator 1

Synonyms

2310079H06Rik, D030051N19Rik

MMRRC Submission

045283-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R7205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91560479-91749194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91598103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 88 (V88A)

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: V88A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: V88A

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: V88A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: V88A

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: V88A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: V88A

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: V88A

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: V88A

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: V88A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: V88A

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (99/102)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,993,587 (GRCm39)	K1269M	possibly damaging	Het
Adgrl2	A	T	3: 148,564,585 (GRCm39)	Y332N	probably damaging	Het
Adgrv1	C	T	13: 81,627,777 (GRCm39)	V3695I	probably benign	Het
Aldh1l1	A	T	6: 90,575,257 (GRCm39)	Y848F	probably damaging	Het
Ankrd12	C	T	17: 66,292,160 (GRCm39)	R1091Q	probably damaging	Het
Apob	T	G	12: 8,055,087 (GRCm39)	V1362G	probably damaging	Het
Arhgap17	A	G	7: 122,905,661 (GRCm39)	L328P	probably damaging	Het
Arhgap27	A	C	11: 103,235,367 (GRCm39)	V9G	probably benign	Het
Arhgap33	A	T	7: 30,232,434 (GRCm39)	D34E	probably damaging	Het
Ash1l	A	G	3: 88,873,259 (GRCm39)	D14G	probably benign	Het
Atf6b	T	C	17: 34,872,703 (GRCm39)	Y575H	probably damaging	Het
Bcl2l2	T	G	14: 55,122,058 (GRCm39)	S74A	probably benign	Het
Begain	T	C	12: 109,004,794 (GRCm39)	T73A	possibly damaging	Het
Bicdl1	C	T	5: 115,808,340 (GRCm39)	R264Q	probably damaging	Het
Ccdc180	A	G	4: 45,914,588 (GRCm39)	D701G	probably benign	Het
Cd200r4	G	T	16: 44,653,529 (GRCm39)	V146L	probably damaging	Het
Cd226	G	A	18: 89,265,322 (GRCm39)	C200Y	probably damaging	Het
Cdcp3	T	C	7: 130,879,352 (GRCm39)		probably null	Het
Cdhr18	T	C	14: 13,866,032 (GRCm38)	T286A		Het
Cdk12	A	G	11: 98,115,451 (GRCm39)	N864S	unknown	Het
Cfhr4	A	T	1: 139,680,788 (GRCm39)	Y243*	probably null	Het
Clcnkb	A	T	4: 141,135,946 (GRCm39)	L413Q	probably damaging	Het
Cldn10	T	C	14: 119,099,255 (GRCm39)	V123A	possibly damaging	Het
Cnn1	T	A	9: 22,017,078 (GRCm39)		probably null	Het
Cpa5	C	A	6: 30,630,829 (GRCm39)	Q364K	probably benign	Het
Cstdc5	T	C	16: 36,187,809 (GRCm39)	I19V	probably benign	Het
Ddx11	A	G	17: 66,437,766 (GRCm39)	E164G	probably benign	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Drc7	T	A	8: 95,804,549 (GRCm39)	Y855N	probably damaging	Het
Fam20b	C	A	1: 156,529,968 (GRCm39)		probably null	Het
Fip1l1	T	A	5: 74,748,736 (GRCm39)		probably null	Het
Flt4	A	G	11: 49,525,125 (GRCm39)	D657G	probably null	Het
Fmo3	T	A	1: 162,781,857 (GRCm39)	T499S	possibly damaging	Het
Fyco1	C	T	9: 123,651,491 (GRCm39)	G1190S	probably benign	Het
Galnt17	C	A	5: 131,335,590 (GRCm39)		probably benign	Het
Ggcx	T	C	6: 72,404,987 (GRCm39)	I465T	probably damaging	Het
Gm7361	T	A	5: 26,466,116 (GRCm39)	N159K	probably damaging	Het
Golgb1	A	G	16: 36,695,663 (GRCm39)	N54S	unknown	Het
Grin2c	G	A	11: 115,141,876 (GRCm39)	P848S	probably damaging	Het
Grina	T	C	15: 76,133,287 (GRCm39)	V285A	probably damaging	Het
Gtpbp6	A	G	5: 110,252,478 (GRCm39)	L381P	probably damaging	Het
Herc2	G	T	7: 55,832,388 (GRCm39)	G3028V	probably damaging	Het
Ibsp	A	T	5: 104,458,297 (GRCm39)	Y278F	probably damaging	Het
Ints4	T	A	7: 97,184,433 (GRCm39)	L846*	probably null	Het
Kif17	A	G	4: 138,021,077 (GRCm39)	K849E	probably benign	Het
Krt77	G	A	15: 101,777,806 (GRCm39)	P83L	probably benign	Het
Ky	T	G	9: 102,419,491 (GRCm39)	D499E	probably damaging	Het
Lrp3	A	T	7: 34,902,051 (GRCm39)	M610K	probably damaging	Het
Lrrfip1	T	A	1: 91,019,338 (GRCm39)	D156E	probably benign	Het
Map6	C	A	7: 98,918,257 (GRCm39)	H343Q	probably benign	Het
Micu2	G	T	14: 58,191,606 (GRCm39)	D148E	probably benign	Het
Mks1	T	A	11: 87,747,428 (GRCm39)	S153T	probably benign	Het
Msantd5f3	A	G	4: 73,573,157 (GRCm39)	Y132C	probably damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myh9	T	C	15: 77,667,672 (GRCm39)	K587R	probably benign	Het
Neb	T	C	2: 52,086,368 (GRCm39)	Y5478C	probably damaging	Het
Nelfe	G	A	17: 35,069,912 (GRCm39)		probably null	Het
Nps	T	A	7: 134,870,510 (GRCm39)	L11I	probably damaging	Het
Nsd1	A	T	13: 55,394,283 (GRCm39)	D731V	probably damaging	Het
Nup50	A	G	15: 84,817,859 (GRCm39)	T93A	probably benign	Het
Nup98	A	T	7: 101,844,248 (GRCm39)	F29Y	unknown	Het
Oprd1	A	G	4: 131,841,112 (GRCm39)	I282T	probably damaging	Het
Or4c103	T	C	2: 88,513,767 (GRCm39)	H103R	possibly damaging	Het
Or5p50	T	C	7: 107,421,782 (GRCm39)	N298S	probably benign	Het
Or6b3	A	T	1: 92,439,573 (GRCm39)	M59K	probably benign	Het
Or6d12	A	G	6: 116,492,936 (GRCm39)	Y66C	probably damaging	Het
Osbp2	T	C	11: 3,662,134 (GRCm39)	I240V	probably damaging	Het
Otub2	C	A	12: 103,359,163 (GRCm39)	P84Q	probably benign	Het
Parp9	A	T	16: 35,777,360 (GRCm39)	I435F	probably benign	Het
Pcdh18	C	T	3: 49,709,923 (GRCm39)	R464H	probably benign	Het
Pcsk6	G	T	7: 65,675,156 (GRCm39)		probably null	Het
Ptgs2	G	A	1: 149,978,512 (GRCm39)	R208Q	probably benign	Het
Rab11b	G	A	17: 33,968,841 (GRCm39)	R51C	probably damaging	Het
Rad1	A	G	15: 10,493,343 (GRCm39)	I257V	probably benign	Het
Rbms3	C	T	9: 116,415,085 (GRCm39)		probably null	Het
Rxfp2	A	T	5: 149,983,364 (GRCm39)	I300L	probably benign	Het
Rxfp2	C	A	5: 149,983,368 (GRCm39)	T301K	probably benign	Het
Sars2	G	T	7: 28,443,733 (GRCm39)	A112S	probably benign	Het
Scn10a	T	C	9: 119,442,616 (GRCm39)	D1543G	probably damaging	Het
Serpinb1b	A	G	13: 33,271,406 (GRCm39)	H59R	probably benign	Het
Sgsm2	T	A	11: 74,745,319 (GRCm39)	D661V	possibly damaging	Het
Smad6	C	A	9: 63,927,688 (GRCm39)	V207L	probably damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,183 (GRCm39)		probably benign	Het
Spata31h1	A	T	10: 82,125,161 (GRCm39)	D2616E	probably benign	Het
Tenm2	C	T	11: 35,939,956 (GRCm39)	R1390Q	probably damaging	Het
Tmem132a	T	A	19: 10,844,295 (GRCm39)	Q101L	probably damaging	Het
Tmem151a	A	G	19: 5,132,801 (GRCm39)	V135A	probably damaging	Het
Trappc10	T	C	10: 78,046,262 (GRCm39)	K443E	probably damaging	Het
Trrap	A	T	5: 144,779,517 (GRCm39)	N3161I	possibly damaging	Het
Tspan32	G	T	7: 142,558,863 (GRCm39)	R6L	possibly damaging	Het
Tut7	C	G	13: 59,936,364 (GRCm39)	D1246H	probably damaging	Het
Ugt2a2	T	C	5: 87,608,468 (GRCm39)	D457G	possibly damaging	Het
Ulk2	A	T	11: 61,725,657 (GRCm39)	S140T	possibly damaging	Het
Upf1	C	T	8: 70,792,695 (GRCm39)	A338T	possibly damaging	Het
Usp43	C	T	11: 67,774,110 (GRCm39)	R460Q	probably null	Het
Uxs1	A	G	1: 43,856,118 (GRCm39)		probably benign	Het
Vmn1r59	A	G	7: 5,457,725 (GRCm39)	C12R	probably damaging	Het
Wdr64	A	G	1: 175,617,499 (GRCm39)	D693G	probably benign	Het
Wnk1	A	T	6: 119,920,839 (GRCm39)		probably null	Het
Wnt2	G	T	6: 18,028,046 (GRCm39)	R63S	probably benign	Het
Zfp418	A	T	7: 7,184,562 (GRCm39)	Q175L	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
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
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'- GAGAAACTACCTAGTAGGCATACC -3'
(R):5'- TCCAATGGCAAACAAGTCTCTG -3'

Sequencing Primer
(F):5'- TCATTTGTAGTGAGTAGTGTAGGG -3'
(R):5'- CTCTGTGTCTGGAATACCAAAGG -3'

Posted On

2019-06-26