Mutagenetix > Incidental Mutation

Incidental Mutation 'R4786:Atg9b'

367071

Institutional Source

Beutler Lab

Gene Symbol

Atg9b

Ensembl Gene

ENSMUSG00000038295

Gene Name

autophagy related 9B

Synonyms

LOC213948, Apg9l2, Nos3as, eONE

MMRRC Submission

041995-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24384181-24392143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24386089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 781 (D781G)

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

possibly damaging
Transcript: ENSMUST00000059401
AA Change: D781G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: D781G

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,059,536	I134N	possibly damaging	Het
Acvr1c	T	C	2: 58,280,354	Y414C	probably damaging	Het
Adam32	A	C	8: 24,863,493	S693R	probably damaging	Het
Aldh2	A	T	5: 121,572,824	F314Y	probably benign	Het
Anks1	A	G	17: 28,052,730	D874G	possibly damaging	Het
Ap4b1	T	A	3: 103,818,804	V372E	probably benign	Het
Aqp12	G	A	1: 93,006,455	C18Y	probably damaging	Het
Arap1	T	A	7: 101,385,005	I218N	possibly damaging	Het
Arhgap42	C	A	9: 9,238,698	E28*	probably null	Het
Asb5	G	A	8: 54,585,839	E247K	probably benign	Het
Atxn10	A	G	15: 85,387,143	H294R	probably benign	Het
Bod1l	G	T	5: 41,819,438	T1511K	probably benign	Het
Btnl2	A	T	17: 34,363,348	N296I	probably damaging	Het
Camta1	A	T	4: 151,290,039	L168H	probably damaging	Het
Cant1	A	T	11: 118,408,839	V265E	possibly damaging	Het
Ccdc157	T	C	11: 4,151,861	D20G	probably damaging	Het
Cd209c	T	G	8: 3,945,698	T35P	possibly damaging	Het
Cdc20b	G	A	13: 113,078,734	V279M	probably damaging	Het
Cdh18	T	A	15: 23,410,787	W453R	probably null	Het
Cdh24	A	G	14: 54,637,550	S333P	possibly damaging	Het
Ceacam11	T	C	7: 17,972,314		probably null	Het
Ciz1	C	T	2: 32,377,527	P150L	probably damaging	Het
Crip3	C	A	17: 46,431,042	Q152K	possibly damaging	Het
Dars2	G	A	1: 161,060,760	R197W	probably damaging	Het
Dctn4	A	G	18: 60,555,195	D394G	probably damaging	Het
Dido1	T	C	2: 180,670,871	Y1077C	possibly damaging	Het
Dnhd1	A	G	7: 105,674,444	T641A	probably benign	Het
Egln3	A	T	12: 54,185,581	I146N	probably damaging	Het
Eif2ak3	C	T	6: 70,892,618	T763M	possibly damaging	Het
Etfbkmt	A	T	6: 149,147,246	M1L	probably benign	Het
Fam171a1	A	T	2: 3,225,578	I583F	probably damaging	Het
Fbxo38	A	C	18: 62,529,674	L249W	probably damaging	Het
Fxyd5	T	C	7: 31,041,482		probably benign	Het
Gabrr3	C	A	16: 59,430,100	T154K	probably benign	Het
Gm7233	C	A	14: 43,180,890	D90E	probably benign	Het
Gm8186	A	G	17: 26,099,040	V61A	probably benign	Het
Gm9573	A	T	17: 35,619,329		probably benign	Het
Gnao1	A	G	8: 93,944,303	I137V	probably benign	Het
Gnptab	A	G	10: 88,436,182	M945V	probably damaging	Het
Gpsm1	G	A	2: 26,322,481	A78T	probably benign	Het
Gtf2b	T	C	3: 142,781,469	L222P	probably damaging	Het
Hnrnpf	A	G	6: 117,923,896	Y47C	probably damaging	Het
Itga6	A	G	2: 71,838,690	N608S	possibly damaging	Het
Kdm2b	T	C	5: 122,880,854		probably null	Het
Krit1	T	A	5: 3,812,467	H207Q	possibly damaging	Het
Ky	A	G	9: 102,541,987	N398D	probably benign	Het
Lama1	T	A	17: 67,773,859	V1294E	possibly damaging	Het
Lef1	C	T	3: 131,111,524	T18I	probably damaging	Het
Lrp2	T	C	2: 69,537,956	N178S	probably damaging	Het
Lrrc36	A	G	8: 105,455,278	T525A	probably benign	Het
Map3k8	A	T	18: 4,340,647	C222*	probably null	Het
Mapre2	G	C	18: 23,877,959	S199T	probably benign	Het
Mcm3ap	A	G	10: 76,488,466	N911S	probably benign	Het
Mroh4	G	T	15: 74,610,234	H722Q	probably benign	Het
Myo5b	A	C	18: 74,695,380	Y701S	probably benign	Het
Myt1l	G	T	12: 29,811,458	V80L	unknown	Het
Ncoa7	C	A	10: 30,655,642	V24L	probably benign	Het
Nlrp10	A	T	7: 108,925,238	V345D	probably damaging	Het
Nmral1	C	A	16: 4,716,424	G51V	probably damaging	Het
Npc1	A	G	18: 12,199,497	I797T	probably benign	Het
Olfr1269	A	T	2: 90,119,007	I197N	possibly damaging	Het
Olfr936	T	A	9: 39,047,487	R22*	probably null	Het
Olfr954	A	T	9: 39,461,841	I134L	probably benign	Het
Pclo	A	T	5: 14,723,267	I4419F	unknown	Het
Phf3	C	A	1: 30,816,557	E983*	probably null	Het
Pitpnm2	A	T	5: 124,121,743	Y1149*	probably null	Het
Sdc3	A	T	4: 130,822,768	T430S	probably damaging	Het
Sema3f	A	G	9: 107,682,682	V671A	probably benign	Het
Sigirr	T	G	7: 141,091,433	S379R	probably benign	Het
Slc25a23	T	A	17: 57,047,326	N360I	possibly damaging	Het
Slco6c1	A	T	1: 97,087,995	M357K	probably benign	Het
Sox14	C	A	9: 99,874,965	M240I	probably benign	Het
Stradb	A	T	1: 58,991,208		probably benign	Het
Szt2	A	T	4: 118,399,062	M200K	probably benign	Het
Tef	T	C	15: 81,815,252	S85P	probably benign	Het
Thada	T	A	17: 84,458,855	H41L	possibly damaging	Het
Tinagl1	A	G	4: 130,173,931	F90S	probably benign	Het
Tnfaip1	G	A	11: 78,530,219	T5I	possibly damaging	Het
Tnfrsf23	A	T	7: 143,680,064	V59D	probably damaging	Het
Tnpo3	A	G	6: 29,578,542	V311A	probably benign	Het
Trak1	T	A	9: 121,472,494	M772K	probably benign	Het
Ubash3a	A	G	17: 31,217,964	D185G	probably benign	Het
Vmn2r120	T	C	17: 57,522,048	T516A	probably benign	Het
Wdr4	A	C	17: 31,509,811	L130R	probably damaging	Het
Zfp12	T	C	5: 143,245,502	I528T	probably damaging	Het
Zfp607a	T	C	7: 27,879,413	L636P	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
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'- ACCCAGTTAAGAGTCAGCCC -3'
(R):5'- ACATCCCCTCTGGTAAGTCC -3'

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

Posted On

2015-12-29