Mutagenetix > Incidental Mutation

Incidental Mutation 'R2426:Atg9b'

250206

Institutional Source

Beutler Lab

Gene Symbol

Atg9b

Ensembl Gene

ENSMUSG00000038295

Gene Name

autophagy related 9B

Synonyms

LOC213948, Apg9l2, Nos3as, eONE

MMRRC Submission

040388-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24384181-24392143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24386994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 669 (I669N)

Ref Sequence

ENSEMBL: ENSMUSP00000051864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030834] [ENSMUST00000059401] [ENSMUST00000115090]

AlphaFold

Q6EBV9

Predicted Effect

probably benign
Transcript: ENSMUST00000030834

SMART Domains

Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	31	57	N/A	INTRINSIC
Pfam:NO_synthase	118	480	1.7e-183	PFAM
Pfam:Flavodoxin_1	521	697	4.8e-54	PFAM
Pfam:FAD_binding_1	750	978	2.1e-82	PFAM
Pfam:NAD_binding_1	1010	1124	1.9e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000059401
AA Change: I669N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: I669N

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
low complexity region	22	38	N/A	INTRINSIC
low complexity region	115	131	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
transmembrane domain	279	296	N/A	INTRINSIC
Pfam:APG9	321	681	1.2e-100	PFAM
low complexity region	782	799	N/A	INTRINSIC
low complexity region	838	847	N/A	INTRINSIC
low complexity region	854	871	N/A	INTRINSIC
low complexity region	876	889	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115090

SMART Domains

Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	31	57	N/A	INTRINSIC
Pfam:NO_synthase	114	485	9e-214	PFAM
Pfam:Flavodoxin_1	521	697	3.8e-54	PFAM
Pfam:FAD_binding_1	750	978	1.6e-79	PFAM
Pfam:NAD_binding_1	1010	1091	5.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156403

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	A	11: 23,576,801	R190W	probably damaging	Het
Abca14	G	T	7: 120,283,223	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,156,788	V131I	probably benign	Het
Adgra3	A	T	5: 50,009,449	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,421,902	V324A	probably damaging	Het
Ahnak	A	T	19: 9,002,851	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,598,284	D851G	probably damaging	Het
Amot	T	C	X: 145,476,291	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,384,181	E161*	probably null	Het
AY761184	T	G	8: 21,702,637	K114N	possibly damaging	Het
Ccdc83	A	G	7: 90,228,431	Y268H	probably damaging	Het
Cep170	A	G	1: 176,774,635	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,571,016	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,317,776	Y231F	probably benign	Het
Dock3	A	T	9: 106,914,541	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,336,804	I629N	probably damaging	Het
Dst	A	T	1: 34,192,812	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,493,080	P343L	probably benign	Het
Fbrs	A	G	7: 127,487,339		probably null	Het
Fbxl13	A	C	5: 21,522,137	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,529,862	S164T	probably damaging	Het
Gdi2	T	G	13: 3,562,034	S330A	probably benign	Het
Gm5878	A	T	6: 85,118,631	M70K	probably benign	Het
H2-Q6	G	T	17: 35,424,937	A21S	probably benign	Het
Hfm1	A	T	5: 106,847,653		probably null	Het
Hnmt	C	T	2: 24,019,155	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,446,619	A310D	probably damaging	Het
Ints1	A	T	5: 139,771,814		probably null	Het
Kcne4	C	A	1: 78,817,971	A112E	possibly damaging	Het
Krt32	T	C	11: 100,086,366	K236R	possibly damaging	Het
Maml2	T	C	9: 13,706,498	L380P	probably damaging	Het
Meis1	A	T	11: 18,988,356	D218E	possibly damaging	Het
Mon1b	G	A	8: 113,639,120	G360D	probably damaging	Het
Mpp4	A	G	1: 59,130,057	S383P	probably damaging	Het
Neb	A	G	2: 52,169,053		probably null	Het
Nlgn2	A	T	11: 69,827,086	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,563,485	L134P	probably damaging	Het
Olfr329-ps	A	T	11: 58,543,094	Y127*	probably null	Het
Olfr371	T	C	8: 85,231,064	S190P	probably damaging	Het
Olfr777	T	C	10: 129,269,266	Q19R	probably benign	Het
Opcml	G	A	9: 28,903,367		probably null	Het
Pate2	A	T	9: 35,670,480		probably null	Het
Pgr	G	A	9: 8,900,717	V84M	probably damaging	Het
Pigu	A	T	2: 155,299,082	V296D	probably damaging	Het
Plcb2	G	A	2: 118,715,649	T555M	probably damaging	Het
Pld5	T	G	1: 175,963,976	D426A	probably benign	Het
Prdm2	G	T	4: 143,111,750	C1679*	probably null	Het
Psme2b	A	T	11: 48,946,063	V19D	probably benign	Het
Ptpn9	A	T	9: 57,027,428	N159Y	possibly damaging	Het
Sdc3	A	T	4: 130,818,803	T64S	unknown	Het
Serping1	T	G	2: 84,770,219	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,208,230	F436S	probably benign	Het
Sntb1	A	T	15: 55,906,179	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Spink1	G	T	18: 43,735,222	S23*	probably null	Het
Stag1	T	C	9: 100,845,116		probably null	Het
Tnfaip8l1	G	A	17: 56,172,030	V107I	probably benign	Het
Tnik	A	G	3: 28,646,681	S907G	probably damaging	Het
Ttf1	T	A	2: 29,067,185	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp54	G	A	14: 20,564,940	A811V	probably benign	Het
Xirp2	A	G	2: 67,514,471	N2352S	probably benign	Het
Zan	T	C	5: 137,388,992	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,360,219	S161P	probably benign	Het
Zkscan5	A	T	5: 145,220,940	I751L	probably benign	Het
Zscan4d	A	G	7: 11,165,095	F85S	probably damaging	Het
Zzef1	A	G	11: 72,915,265	M2647V	probably benign	Het

Other mutations in Atg9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Atg9b	APN	5	24386515	splice site	probably null
IGL02020:Atg9b	APN	5	24391058	missense	possibly damaging	0.89
PIT4418001:Atg9b	UTSW	5	24385515	missense	possibly damaging	0.93
R0045:Atg9b	UTSW	5	24387398	missense	probably damaging	0.99
R1698:Atg9b	UTSW	5	24388188	missense	probably damaging	1.00
R1807:Atg9b	UTSW	5	24387057	missense	probably damaging	1.00
R1885:Atg9b	UTSW	5	24388254	missense	probably damaging	1.00
R2183:Atg9b	UTSW	5	24390493	missense	probably benign	0.01
R2224:Atg9b	UTSW	5	24386395	missense	possibly damaging	0.77
R2226:Atg9b	UTSW	5	24386395	missense	possibly damaging	0.77
R2227:Atg9b	UTSW	5	24386395	missense	possibly damaging	0.77
R2919:Atg9b	UTSW	5	24391544	missense	possibly damaging	0.66
R3003:Atg9b	UTSW	5	24391219	missense	probably damaging	1.00
R4772:Atg9b	UTSW	5	24385239	makesense	probably null
R4786:Atg9b	UTSW	5	24386089	missense	possibly damaging	0.92
R5901:Atg9b	UTSW	5	24392019	unclassified	probably benign
R6410:Atg9b	UTSW	5	24386110	missense	possibly damaging	0.46
R6505:Atg9b	UTSW	5	24390577	missense	probably damaging	1.00
R7215:Atg9b	UTSW	5	24388041	missense	probably damaging	1.00
R8134:Atg9b	UTSW	5	24385222	critical splice donor site	probably null
R8219:Atg9b	UTSW	5	24386332	missense	probably damaging	1.00
R8257:Atg9b	UTSW	5	24386305	unclassified	probably benign
R8460:Atg9b	UTSW	5	24386968	missense	probably damaging	0.97
R8671:Atg9b	UTSW	5	24386109	missense	probably benign	0.08
R8774:Atg9b	UTSW	5	24390573	missense	probably damaging	1.00
R8774-TAIL:Atg9b	UTSW	5	24390573	missense	probably damaging	1.00
R8870:Atg9b	UTSW	5	24387034	missense	probably damaging	1.00
R8956:Atg9b	UTSW	5	24386852	unclassified	probably benign
R8966:Atg9b	UTSW	5	24391202	critical splice donor site	probably null
R8969:Atg9b	UTSW	5	24387834	missense	probably benign	0.00
R9521:Atg9b	UTSW	5	24388109	missense	probably benign
R9638:Atg9b	UTSW	5	24391408	missense	possibly damaging	0.67
Z1177:Atg9b	UTSW	5	24391787	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATGTTTGCTCCCCTGTGCAG -3'
(R):5'- TCTGGAACATGGGTCCTTTG -3'

Sequencing Primer
(F):5'- GTGCAGTCCTAGTTCCTAAGACAAG -3'
(R):5'- AACATGGGTCCTTTGTATGATCTC -3'

Posted On

2014-11-12