Mutagenetix > Incidental Mutation

Incidental Mutation 'R8219:Atg9b'

636540

Institutional Source

Beutler Lab

Gene Symbol

Atg9b

Ensembl Gene

ENSMUSG00000038295

Gene Name

autophagy related 9B

Synonyms

Nos3as, Apg9l2, LOC213948, eONE

MMRRC Submission

067659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24589179-24597141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24591330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 756 (L756P)

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: L756P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: L756P

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

100% (62/62)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,833,363 (GRCm39)	S80T	unknown	Het
Acnat1	T	A	4: 49,447,748 (GRCm39)	I278F	probably benign	Het
Adgrf5	A	T	17: 43,760,750 (GRCm39)	Q815L	probably benign	Het
Aff1	T	A	5: 103,994,199 (GRCm39)	Y1022N	probably damaging	Het
Ahi1	A	G	10: 20,950,335 (GRCm39)	K1034E	probably benign	Het
Ano8	A	T	8: 71,933,357 (GRCm39)	L645Q	unknown	Het
Atp2b2	A	T	6: 113,770,811 (GRCm39)	I411N	probably damaging	Het
Bmp6	T	A	13: 38,529,963 (GRCm39)	C19S	unknown	Het
Borcs5	A	G	6: 134,621,313 (GRCm39)	H27R	probably benign	Het
Cachd1	C	A	4: 100,848,159 (GRCm39)	D1091E	probably benign	Het
Ccdc186	T	A	19: 56,781,777 (GRCm39)	M801L	probably benign	Het
Clcn3	A	T	8: 61,376,000 (GRCm39)	M658K	probably damaging	Het
Col1a1	C	T	11: 94,834,184 (GRCm39)	R500C	probably damaging	Het
Cul4a	T	A	8: 13,196,540 (GRCm39)	D731E	possibly damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
E2f7	T	A	10: 110,595,704 (GRCm39)	V133E	probably damaging	Het
Fam161b	T	C	12: 84,393,648 (GRCm39)	E575G	probably benign	Het
Fubp1	T	A	3: 151,926,103 (GRCm39)	V275D	probably damaging	Het
Gabrg1	T	A	5: 70,931,643 (GRCm39)	R367*	probably null	Het
Gm6902	G	A	7: 22,973,143 (GRCm39)	A128V	probably benign	Het
Gnptab	A	G	10: 88,269,654 (GRCm39)	T786A	probably benign	Het
Golga2	A	G	2: 32,196,492 (GRCm39)	N981D	probably damaging	Het
Gsap	A	T	5: 21,456,113 (GRCm39)	I437L	probably benign	Het
Gulp1	A	G	1: 44,793,501 (GRCm39)		probably null	Het
Kcnn1	T	C	8: 71,305,499 (GRCm39)	Y237C	probably damaging	Het
Klhl28	A	T	12: 64,998,431 (GRCm39)	N354K	probably benign	Het
Lama3	T	C	18: 12,572,417 (GRCm39)	Y541H	probably benign	Het
Lamc1	A	G	1: 153,123,073 (GRCm39)	Y706H	probably damaging	Het
Lima1	G	T	15: 99,678,671 (GRCm39)	T590K	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mrgprb8	G	A	7: 48,038,649 (GRCm39)	V107M	possibly damaging	Het
Mrpl3	T	A	9: 104,934,271 (GRCm39)	N139K	possibly damaging	Het
Nhsl3	T	A	4: 129,141,946 (GRCm39)	D65V	possibly damaging	Het
Nudt16	T	A	9: 105,007,636 (GRCm39)	N161I	probably damaging	Het
Obscn	G	A	11: 59,013,574 (GRCm39)	S1091L	probably benign	Het
Oog4	T	C	4: 143,166,508 (GRCm39)	M99V	probably benign	Het
Or5b105	A	C	19: 13,080,284 (GRCm39)	L122R	probably damaging	Het
Or8c16	A	C	9: 38,130,668 (GRCm39)	D183A	probably damaging	Het
Osbpl6	A	T	2: 76,386,247 (GRCm39)	D303V	probably damaging	Het
Pcdhb21	T	C	18: 37,647,708 (GRCm39)	F279S	probably damaging	Het
Peg3	G	A	7: 6,711,364 (GRCm39)	T1286I	probably benign	Het
Phax	A	G	18: 56,708,754 (GRCm39)	N106S	probably damaging	Het
Pkdrej	A	G	15: 85,705,493 (GRCm39)	Y148H	probably damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprn2	C	A	12: 117,148,357 (GRCm39)	Q706K	probably benign	Het
Rdh11	T	G	12: 79,235,880 (GRCm39)	K23Q	probably benign	Het
Rit2	T	A	18: 31,108,547 (GRCm39)	E146V	probably damaging	Het
Rnf141	T	C	7: 110,436,472 (GRCm39)		probably benign	Het
Sars1	T	A	3: 108,352,378 (GRCm39)	E24V	probably benign	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Slc10a5	G	T	3: 10,400,384 (GRCm39)	P92Q	probably benign	Het
Slc24a5	A	T	2: 124,927,575 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,757,561 (GRCm39)	Y517C	probably damaging	Het
Slc6a5	A	G	7: 49,561,911 (GRCm39)	M148V	probably benign	Het
Sorl1	T	C	9: 41,952,857 (GRCm39)		probably null	Het
Tgm4	A	T	9: 122,874,117 (GRCm39)	Y119F	probably benign	Het
Tgm6	A	G	2: 129,993,200 (GRCm39)	K562R	probably benign	Het
Tlr3	T	C	8: 45,851,016 (GRCm39)	E627G	possibly damaging	Het
Tmprss11f	A	G	5: 86,677,878 (GRCm39)	L297P	probably damaging	Het
Tpbgl	T	C	7: 99,274,978 (GRCm39)	H293R	probably benign	Het
Trank1	A	C	9: 111,193,977 (GRCm39)	K667T	probably damaging	Het
Trpm1	A	T	7: 63,851,699 (GRCm39)	Q139L	probably benign	Het
Ttf2	T	G	3: 100,869,879 (GRCm39)	K398T	possibly damaging	Het
Xpa	A	T	4: 46,183,150 (GRCm39)	M213K	probably benign	Het
Zmym2	T	A	14: 57,163,316 (GRCm39)	S623T	probably benign	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
R8257:Atg9b	UTSW	5	24,591,303 (GRCm39)	unclassified	probably benign
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'- CTTCTGGCTAAACAAAAGAGAGC -3'
(R):5'- TGGCTTTCAGAGGGACAGAC -3'

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

Posted On

2020-07-13