Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Atg9b'

661153

Institutional Source

Beutler Lab

Gene Symbol

Atg9b

Ensembl Gene

ENSMUSG00000038295

Gene Name

autophagy related 9B

Synonyms

LOC213948, Apg9l2, Nos3as, eONE

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24384181-24392143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24386109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 774 (N774K)

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 benign
Transcript: ENSMUST00000059401
AA Change: N774K

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: N774K

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: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	probably damaging	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
R2426:Atg9b	UTSW	5	24386994	missense	probably damaging	1.00
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
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'- ACCCAGTTAAGAGTCAGCCC -3'
(R):5'- TGACTGTACATCCCCTCTGG -3'

Sequencing Primer
(F):5'- CTCACAGAGGAAGGCAGTCC -3'
(R):5'- TCTGGTAAGTCCCACGCCTG -3'

Posted On

2021-03-08