Mutagenetix > Incidental Mutation

Incidental Mutation 'R8257:Atg9b'

656473

Institutional Source

Beutler Lab

Gene Symbol

Atg9b

Ensembl Gene

ENSMUSG00000038295

Gene Name

autophagy related 9B

Synonyms

Nos3as, Apg9l2, LOC213948, eONE

MMRRC Submission

067683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24589179-24597141 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 24591303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110742 (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 benign
Transcript: ENSMUST00000059401

SMART Domains

Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,950,153 (GRCm39)	K1350R	probably benign	Het
4933407L21Rik	T	A	1: 85,859,060 (GRCm39)	C70*	probably null	Het
Akr1c6	G	A	13: 4,488,525 (GRCm39)	V97I	probably benign	Het
Alg9	A	T	9: 50,690,387 (GRCm39)	I130F	possibly damaging	Het
Ankle2	G	T	5: 110,401,781 (GRCm39)		probably null	Het
Ankrd34a	A	T	3: 96,505,045 (GRCm39)	H83L	possibly damaging	Het
Aoc1l2	A	G	6: 48,909,431 (GRCm39)	T559A	probably benign	Het
Ate1	T	C	7: 130,069,037 (GRCm39)	Y367C	probably damaging	Het
Atp2c1	A	G	9: 105,308,756 (GRCm39)	S626P	probably benign	Het
Ccdc171	A	G	4: 83,614,606 (GRCm39)	N1069S	probably damaging	Het
Cdh20	A	G	1: 104,921,962 (GRCm39)	D753G	probably benign	Het
Cdk11b	A	G	4: 155,732,398 (GRCm39)	E517G	unknown	Het
Chst5	A	T	8: 112,617,092 (GRCm39)	V176E	probably damaging	Het
Ddx50	T	C	10: 62,452,299 (GRCm39)		probably benign	Het
Dspp	A	G	5: 104,324,867 (GRCm39)	D410G	probably benign	Het
Dync1h1	T	A	12: 110,602,908 (GRCm39)	V2183E	probably damaging	Het
Emilin2	A	G	17: 71,580,995 (GRCm39)	V577A	probably benign	Het
Entpd2	T	A	2: 25,288,133 (GRCm39)	L119Q	probably damaging	Het
Foxa1	A	T	12: 57,589,932 (GRCm39)	M96K	probably benign	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
H2-Aa	T	C	17: 34,502,211 (GRCm39)	T237A	probably damaging	Het
Itih4	G	A	14: 30,609,825 (GRCm39)	V52I	possibly damaging	Het
Kntc1	T	C	5: 123,896,586 (GRCm39)		probably null	Het
Lgi4	A	T	7: 30,766,766 (GRCm39)		probably null	Het
Map4k2	G	A	19: 6,396,030 (GRCm39)	R455H	probably benign	Het
Masp2	A	G	4: 148,687,497 (GRCm39)	T95A	possibly damaging	Het
Mtmr12	T	C	15: 12,259,684 (GRCm39)	I351T	possibly damaging	Het
Ncdn	A	G	4: 126,643,676 (GRCm39)		probably null	Het
Nckipsd	A	G	9: 108,692,127 (GRCm39)	E516G	probably benign	Het
Nlrp12	A	G	7: 3,297,962 (GRCm39)	W70R	probably damaging	Het
Nmral1	T	A	16: 4,534,267 (GRCm39)	D58V	probably damaging	Het
Nr2c1	A	G	10: 94,028,769 (GRCm39)	Y522C	probably damaging	Het
Or14c45	A	G	7: 86,176,678 (GRCm39)	T238A	possibly damaging	Het
Or1e23	A	G	11: 73,407,203 (GRCm39)	M274T	probably benign	Het
Or2d3b	A	G	7: 106,513,926 (GRCm39)	I174V	probably benign	Het
Or2w1b	A	G	13: 21,300,543 (GRCm39)	N227S	probably benign	Het
Pcdhga6	T	A	18: 37,841,868 (GRCm39)	N529K	probably benign	Het
Pkmyt1	C	T	17: 23,953,148 (GRCm39)	R235W	probably benign	Het
Prss43	T	C	9: 110,659,880 (GRCm39)	S315P	possibly damaging	Het
Psmd1	T	A	1: 86,006,345 (GRCm39)	V237E	probably damaging	Het
Ptprf	A	G	4: 118,083,476 (GRCm39)	Y844H	probably damaging	Het
Ryr1	C	T	7: 28,764,064 (GRCm39)	V3089I	possibly damaging	Het
Slc1a7	A	G	4: 107,865,394 (GRCm39)	D294G	possibly damaging	Het
Slc5a10	T	A	11: 61,605,873 (GRCm39)	T148S	probably damaging	Het
Spata25	T	C	2: 164,669,690 (GRCm39)	D107G	possibly damaging	Het
Stambpl1	A	G	19: 34,208,901 (GRCm39)	E132G	probably damaging	Het
Tgfb1	A	G	7: 25,396,373 (GRCm39)	H222R	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trmt1l	T	A	1: 151,304,629 (GRCm39)	M1K	probably null	Het
Vmn2r86	A	T	10: 130,288,279 (GRCm39)	H407Q	possibly damaging	Het
Wdr36	T	A	18: 32,974,339 (GRCm39)		probably benign	Het
Zfp35	T	A	18: 24,137,288 (GRCm39)	I544N	possibly damaging	Het

Other mutations in Atg9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Atg9b	APN	5	24,591,513 (GRCm39)	splice site	probably null
IGL02020:Atg9b	APN	5	24,596,056 (GRCm39)	missense	possibly damaging	0.89
PIT4418001:Atg9b	UTSW	5	24,590,513 (GRCm39)	missense	possibly damaging	0.93
R0045:Atg9b	UTSW	5	24,592,396 (GRCm39)	missense	probably damaging	0.99
R1698:Atg9b	UTSW	5	24,593,186 (GRCm39)	missense	probably damaging	1.00
R1807:Atg9b	UTSW	5	24,592,055 (GRCm39)	missense	probably damaging	1.00
R1885:Atg9b	UTSW	5	24,593,252 (GRCm39)	missense	probably damaging	1.00
R2183:Atg9b	UTSW	5	24,595,491 (GRCm39)	missense	probably benign	0.01
R2224:Atg9b	UTSW	5	24,591,393 (GRCm39)	missense	possibly damaging	0.77
R2226:Atg9b	UTSW	5	24,591,393 (GRCm39)	missense	possibly damaging	0.77
R2227:Atg9b	UTSW	5	24,591,393 (GRCm39)	missense	possibly damaging	0.77
R2426:Atg9b	UTSW	5	24,591,992 (GRCm39)	missense	probably damaging	1.00
R2919:Atg9b	UTSW	5	24,596,542 (GRCm39)	missense	possibly damaging	0.66
R3003:Atg9b	UTSW	5	24,596,217 (GRCm39)	missense	probably damaging	1.00
R4772:Atg9b	UTSW	5	24,590,237 (GRCm39)	makesense	probably null
R4786:Atg9b	UTSW	5	24,591,087 (GRCm39)	missense	possibly damaging	0.92
R5901:Atg9b	UTSW	5	24,597,017 (GRCm39)	unclassified	probably benign
R6410:Atg9b	UTSW	5	24,591,108 (GRCm39)	missense	possibly damaging	0.46
R6505:Atg9b	UTSW	5	24,595,575 (GRCm39)	missense	probably damaging	1.00
R7215:Atg9b	UTSW	5	24,593,039 (GRCm39)	missense	probably damaging	1.00
R8134:Atg9b	UTSW	5	24,590,220 (GRCm39)	critical splice donor site	probably null
R8219:Atg9b	UTSW	5	24,591,330 (GRCm39)	missense	probably damaging	1.00
R8460:Atg9b	UTSW	5	24,591,966 (GRCm39)	missense	probably damaging	0.97
R8671:Atg9b	UTSW	5	24,591,107 (GRCm39)	missense	probably benign	0.08
R8774:Atg9b	UTSW	5	24,595,571 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Atg9b	UTSW	5	24,595,571 (GRCm39)	missense	probably damaging	1.00
R8870:Atg9b	UTSW	5	24,592,032 (GRCm39)	missense	probably damaging	1.00
R8956:Atg9b	UTSW	5	24,591,850 (GRCm39)	unclassified	probably benign
R8966:Atg9b	UTSW	5	24,596,200 (GRCm39)	critical splice donor site	probably null
R8969:Atg9b	UTSW	5	24,592,832 (GRCm39)	missense	probably benign	0.00
R9521:Atg9b	UTSW	5	24,593,107 (GRCm39)	missense	probably benign
R9638:Atg9b	UTSW	5	24,596,406 (GRCm39)	missense	possibly damaging	0.67
Z1177:Atg9b	UTSW	5	24,596,785 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTTCTGGCTAAACAAAAGAGAGC -3'
(R):5'- CCTTGCAGTGGCTTTCAGAG -3'

Sequencing Primer
(F):5'- CTAAACAAAAGAGAGCCAAAGGGTG -3'
(R):5'- GACCGAACTCTCCTTAATGCGG -3'

Posted On

2020-11-25