Mutagenetix > Incidental Mutation

Incidental Mutation 'R1698:Atg9b'

192390

Institutional Source

Beutler Lab

Gene Symbol

Atg9b

Ensembl Gene

ENSMUSG00000038295

Gene Name

autophagy related 9B

Synonyms

LOC213948, Apg9l2, Nos3as, eONE

MMRRC Submission

039731-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1698 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

24384181-24392143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24388188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 406 (G406C)

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: G406C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: G406C

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: 98.4%
10x: 96.6%
20x: 93.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	C	6: 121,645,158	E340A	possibly damaging	Het
Abca13	A	G	11: 9,314,507	D2963G	probably benign	Het
Actn3	T	C	19: 4,862,207	D783G	possibly damaging	Het
Adamtsl2	A	G	2: 27,103,127	E723G	possibly damaging	Het
Agrn	G	T	4: 156,166,558	Q1931K	probably benign	Het
Ankrd27	G	A	7: 35,614,521	A426T	probably benign	Het
BC005561	C	T	5: 104,520,510	A966V	probably benign	Het
C1ra	A	T	6: 124,522,766	Q637L	probably benign	Het
Cdhr2	A	T	13: 54,719,581	M438L	probably benign	Het
Cep350	T	C	1: 155,953,358	I267V	possibly damaging	Het
Chrna5	A	G	9: 55,004,642	Y138C	probably damaging	Het
Chst3	T	A	10: 60,185,703	M441L	probably benign	Het
Cmya5	G	A	13: 93,063,519	P3434S	probably benign	Het
Cog2	T	A	8: 124,525,683	L42Q	probably damaging	Het
Cpq	A	T	15: 33,250,126	I210F	probably benign	Het
Crnn	C	A	3: 93,148,458	Q184K	probably damaging	Het
Csnka2ip	A	T	16: 64,478,059	Y647*	probably null	Het
D5Ertd579e	C	T	5: 36,604,530	R1331H	probably benign	Het
Dennd5a	C	T	7: 109,917,380		probably null	Het
Dync1h1	A	G	12: 110,626,992	Q1231R	possibly damaging	Het
Erbin	T	A	13: 103,833,731	I1126F	possibly damaging	Het
Fastkd1	T	C	2: 69,702,469	D518G	probably benign	Het
Gcc1	A	G	6: 28,421,111	L69P	possibly damaging	Het
Gkn1	T	C	6: 87,347,169	Y119C	probably damaging	Het
Gmpr	T	G	13: 45,517,044	W81G	probably benign	Het
Gyg	T	A	3: 20,138,051	I236F	probably benign	Het
Hcrtr2	T	C	9: 76,246,453	Y219C	probably damaging	Het
Hmcn1	G	A	1: 150,565,369	Q5379*	probably null	Het
Kank1	T	C	19: 25,411,317	C785R	probably benign	Het
Lrp1b	A	T	2: 40,851,806	C3036*	probably null	Het
Mdga2	T	C	12: 66,689,335	D373G	probably damaging	Het
Mgat2	A	T	12: 69,185,719	I356F	probably benign	Het
Miga2	A	G	2: 30,377,997	D346G	probably damaging	Het
Mprip	T	A	11: 59,760,258	L1596Q	possibly damaging	Het
Mroh2b	G	A	15: 4,914,140	R386Q	probably benign	Het
Mst1r	T	A	9: 107,919,980	S1349R	probably benign	Het
Mtmr3	C	T	11: 4,492,825	R403H	possibly damaging	Het
Mycbpap	G	A	11: 94,508,143	Q460*	probably null	Het
Myo9a	T	C	9: 59,868,181	V1025A	probably benign	Het
Ncapd2	C	T	6: 125,168,590	E1365K	probably null	Het
Nkiras2	C	A	11: 100,625,163	D105E	probably damaging	Het
Nolc1	T	G	19: 46,081,431		probably null	Het
Nos1	T	C	5: 117,867,232	F6L	probably benign	Het
Olfr1112	G	T	2: 87,191,737	V17L	probably benign	Het
Olfr1278	T	A	2: 111,292,560	C97*	probably null	Het
Olfr1369-ps1	C	T	13: 21,116,565	T291I	probably benign	Het
Olfr218	A	T	1: 173,203,371	N5I	probably damaging	Het
Olfr325	T	C	11: 58,581,251	Y136H	probably damaging	Het
Olfr910	T	A	9: 38,539,256	Y120*	probably null	Het
Pfkm	A	G	15: 98,128,318	E598G	possibly damaging	Het
Phf2	A	T	13: 48,807,630	D861E	unknown	Het
Polr2a	A	G	11: 69,739,877		probably null	Het
Popdc2	G	A	16: 38,369,491	V167M	probably damaging	Het
Ptpn22	T	C	3: 103,885,798	S422P	probably benign	Het
Rasa2	T	C	9: 96,568,375	K490R	possibly damaging	Het
Rbfox3	T	A	11: 118,495,221	D286V	probably damaging	Het
Rdh13	A	G	7: 4,427,791	W223R	probably damaging	Het
Riok3	T	C	18: 12,128,929	S7P	probably benign	Het
Rnaseh2b	A	G	14: 62,353,632	E144G	probably benign	Het
Rnf20	C	T	4: 49,651,498	Q655*	probably null	Het
Rpap2	T	C	5: 107,603,550	Y8H	probably damaging	Het
Slc5a10	T	C	11: 61,709,602	Y181C	probably benign	Het
Snd1	G	T	6: 28,888,253	G896*	probably null	Het
Spast	C	T	17: 74,356,160	Q158*	probably null	Het
Tas2r104	G	A	6: 131,685,584	S54F	probably damaging	Het
Tcaf2	C	T	6: 42,628,017	W611*	probably null	Het
Timp4	G	A	6: 115,250,403		probably null	Het
Tmem45a	G	A	16: 56,823,570	S72L	probably benign	Het
Tnrc18	T	C	5: 142,788,703	T124A	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ttn	T	C	2: 76,942,915	D2381G	probably damaging	Het
Uevld	T	C	7: 46,955,624	T41A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc5d	T	C	8: 28,696,478	E527G	probably damaging	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Vmn2r63	A	C	7: 42,933,614	I59S	probably benign	Het
Vps72	G	A	3: 95,118,695	S106N	probably benign	Het
Zan	A	C	5: 137,409,669		probably benign	Het
Zbtb38	T	C	9: 96,685,462	K1190E	probably benign	Het
Zc3h6	T	C	2: 129,017,358	V1103A	probably benign	Het
Zfp407	G	A	18: 84,562,157	T277I	probably damaging	Het
Zfp804b	A	G	5: 6,769,509	S1149P	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
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
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
Z1177:Atg9b	UTSW	5	24391787	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGCTGTAGAAGGCGTGCAATACC -3'
(R):5'- TTCCTCAGGCAGAAAGCAGCGATG -3'

Sequencing Primer
(F):5'- GCGTGCAATACCTGCCAG -3'
(R):5'- CTGTGCTTCTATTAGCAGAAGGTC -3'

Posted On

2014-05-14