Mutagenetix > Incidental Mutation

Incidental Mutation 'R1807:Atg9b'

203522

Institutional Source

Beutler Lab

Gene Symbol

Atg9b

Ensembl Gene

ENSMUSG00000038295

Gene Name

autophagy related 9B

Synonyms

Nos3as, Apg9l2, LOC213948, eONE

MMRRC Submission

039836-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24589179-24597141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24592055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 648 (R648L)

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: R648L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: R648L

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

Meta Mutation Damage Score

0.2199

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.7%

Validation Efficiency

97% (77/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	T	17: 36,205,961 (GRCm39)	W27*	probably null	Het
4933430I17Rik	T	A	4: 62,460,993 (GRCm39)	Y289*	probably null	Het
A3galt2	A	G	4: 128,661,394 (GRCm39)	I348V	probably benign	Het
Abca13	A	G	11: 9,241,755 (GRCm39)	Y1206C	probably damaging	Het
Adar	T	C	3: 89,642,172 (GRCm39)	S18P	probably benign	Het
Akr1cl	T	C	1: 65,061,106 (GRCm39)	D139G	possibly damaging	Het
Aldh1b1	A	G	4: 45,802,873 (GRCm39)	Y137C	possibly damaging	Het
Arsa	T	C	15: 89,359,525 (GRCm39)	M86V	possibly damaging	Het
Atrn	A	G	2: 130,824,692 (GRCm39)	N1042S	possibly damaging	Het
Ccdc6	T	A	10: 70,010,989 (GRCm39)	D325E	possibly damaging	Het
Cdk12	T	C	11: 98,101,203 (GRCm39)	S354P	unknown	Het
Chst3	T	A	10: 60,022,130 (GRCm39)	Y239F	probably benign	Het
Cilp2	C	A	8: 70,334,844 (GRCm39)	R718L	probably damaging	Het
Col27a1	A	G	4: 63,249,586 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,616,137 (GRCm39)	N266S	probably benign	Het
Ctnnd2	T	C	15: 30,620,017 (GRCm39)	V123A	probably damaging	Het
Cyria	G	A	12: 12,411,505 (GRCm39)	R123Q	probably benign	Het
D7Ertd443e	T	A	7: 133,895,034 (GRCm39)	E552V	probably null	Het
Dcst1	T	A	3: 89,260,848 (GRCm39)	H516L	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Drd2	C	T	9: 49,316,367 (GRCm39)	L376F	probably damaging	Het
Edn1	A	G	13: 42,460,270 (GRCm39)	N175S	probably damaging	Het
Eipr1	G	T	12: 28,816,838 (GRCm39)	G65V	probably damaging	Het
Epha4	G	A	1: 77,351,541 (GRCm39)	P905S	probably benign	Het
Erbb2	T	C	11: 98,319,680 (GRCm39)	Y591H	probably damaging	Het
Fam135b	G	A	15: 71,335,761 (GRCm39)	R478C	probably benign	Het
Fat2	T	C	11: 55,180,085 (GRCm39)	T1419A	probably damaging	Het
Flnb	C	T	14: 7,934,645 (GRCm38)	T2239I	probably benign	Het
Gm7713	T	C	15: 59,866,320 (GRCm39)		noncoding transcript	Het
Hsf5	C	T	11: 87,548,168 (GRCm39)	P617L	probably benign	Het
Kcnk12	C	A	17: 88,053,468 (GRCm39)	R398L	probably benign	Het
Kif21b	T	A	1: 136,075,531 (GRCm39)	N219K	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klra5	A	T	6: 129,876,383 (GRCm39)	F141L	probably benign	Het
Lmtk3	C	T	7: 45,442,702 (GRCm39)	P462S	probably benign	Het
Mast2	A	G	4: 116,167,938 (GRCm39)		probably benign	Het
Me1	T	A	9: 86,532,932 (GRCm39)	T197S	probably damaging	Het
Msr1	T	A	8: 40,072,948 (GRCm39)	Q267L	probably benign	Het
Nfic	T	C	10: 81,240,819 (GRCm39)	T328A	probably benign	Het
Nphp3	G	A	9: 103,897,940 (GRCm39)	D390N	probably benign	Het
Nr2e1	T	A	10: 42,458,905 (GRCm39)		probably null	Het
Nt5el	A	T	13: 105,218,744 (GRCm39)	Q26L	probably benign	Het
Or52e19b	T	A	7: 103,032,790 (GRCm39)	N140Y	probably benign	Het
Or5t9	T	A	2: 86,659,445 (GRCm39)	F116L	probably benign	Het
Pard6b	T	C	2: 167,929,332 (GRCm39)	L46P	probably damaging	Het
Prkaa1	T	A	15: 5,173,436 (GRCm39)	L20Q	probably damaging	Het
Rapgefl1	T	C	11: 98,736,815 (GRCm39)		probably null	Het
Recql5	T	C	11: 115,785,941 (GRCm39)	K611E	possibly damaging	Het
Rexo1	A	T	10: 80,378,413 (GRCm39)	I1180N	possibly damaging	Het
Rnf26rt	A	G	6: 76,474,397 (GRCm39)	V73A	probably benign	Het
Rph3a	T	C	5: 121,083,456 (GRCm39)	N605D	probably damaging	Het
Sema6a	A	G	18: 47,409,491 (GRCm39)	V592A	possibly damaging	Het
Skint11	A	T	4: 114,051,893 (GRCm39)	R80S	probably benign	Het
Smpdl3a	C	A	10: 57,677,118 (GRCm39)	P72H	probably damaging	Het
Sobp	T	G	10: 43,036,822 (GRCm39)	M39L	possibly damaging	Het
Sparcl1	T	A	5: 104,233,627 (GRCm39)	Y574F	probably damaging	Het
Spns3	C	T	11: 72,429,166 (GRCm39)	W206*	probably null	Het
Srf	A	G	17: 46,864,685 (GRCm39)	V190A	possibly damaging	Het
Stag1	T	G	9: 100,790,719 (GRCm39)	H742Q	probably benign	Het
Strn3	A	T	12: 51,673,986 (GRCm39)	S542T	probably benign	Het
Synpo2	T	C	3: 122,873,906 (GRCm39)	E1020G	possibly damaging	Het
Tcerg1l	T	A	7: 137,996,826 (GRCm39)	H137L	probably benign	Het
Tlr12	A	T	4: 128,511,229 (GRCm39)	D340E	probably benign	Het
Tmem130	T	A	5: 144,692,174 (GRCm39)	T77S	probably benign	Het
Tmem143	C	A	7: 45,547,037 (GRCm39)	R68S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Trem1	G	T	17: 48,548,663 (GRCm39)	G67*	probably null	Het
Tsc1	A	G	2: 28,576,125 (GRCm39)	D978G	probably benign	Het
Txndc9	A	T	1: 38,033,096 (GRCm39)	H95Q	probably damaging	Het
Yju2b	C	T	8: 84,986,936 (GRCm39)	R187Q	probably damaging	Het
Zfp35	T	A	18: 24,136,986 (GRCm39)	N443K	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
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
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'- GCTCTATAAACCTGACAAGCTTTAGTG -3'
(R):5'- AGTGGTTGGAATCTTCAGACC -3'

Sequencing Primer
(F):5'- AGCTCTAACCTGAGGATG -3'
(R):5'- CAGACCTTAGAGAGTGTTCCTG -3'

Posted On

2014-06-23