Mutagenetix > Incidental Mutation

Incidental Mutation 'R8774:Atg9b'

664593

Institutional Source

Beutler Lab

Gene Symbol

Atg9b

Ensembl Gene

ENSMUSG00000038295

Gene Name

autophagy related 9B

Synonyms

Nos3as, Apg9l2, LOC213948, eONE

MMRRC Submission

068628-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24589179-24597141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24595571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 236 (D236G)

Ref Sequence

ENSEMBL: ENSMUSP00000051864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059401] [ENSMUST00000073076] [ENSMUST00000115077] [ENSMUST00000138168]

AlphaFold

Q6EBV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000059401
AA Change: D236G

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

SMART Domains

Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: D236G

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: ENSMUST00000073076

SMART Domains

Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC
Pfam:ABC_membrane	130	407	3.6e-48	PFAM
AAA	481	668	8.58e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115077

SMART Domains

Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC
Pfam:ABC_membrane	130	407	1.1e-56	PFAM
AAA	481	668	8.58e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138168

SMART Domains

Protein: ENSMUSP00000119791
Gene: ENSMUSG00000028973

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,090,358 (GRCm39)	S364P	possibly damaging	Het
Abcc2	T	A	19: 43,787,577 (GRCm39)	Y208N	probably damaging	Het
Acy1	A	T	9: 106,313,913 (GRCm39)	D82E	probably damaging	Het
Ankub1	A	G	3: 57,597,802 (GRCm39)	L56P	probably damaging	Het
Aoc1	T	A	6: 48,885,529 (GRCm39)	F678Y	probably damaging	Het
Asxl3	C	A	18: 22,657,101 (GRCm39)	Q1704K	probably damaging	Het
Auh	A	T	13: 52,993,631 (GRCm39)	M261K	probably benign	Het
C2cd6	A	T	1: 59,099,825 (GRCm39)	M372K	possibly damaging	Het
Ccdc88b	A	T	19: 6,825,090 (GRCm39)	N1287K	probably damaging	Het
Cebpz	A	G	17: 79,229,073 (GRCm39)	S958P	probably benign	Het
Cgn	T	A	3: 94,680,810 (GRCm39)	Q576L	probably damaging	Het
Chd7	T	A	4: 8,854,692 (GRCm39)	M2011K	probably damaging	Het
Cntnap4	A	G	8: 113,529,820 (GRCm39)	E676G	probably benign	Het
Cspp1	A	T	1: 10,183,139 (GRCm39)	E781D	possibly damaging	Het
Cyb5d2	A	C	11: 72,679,901 (GRCm39)		probably null	Het
Epn3	G	T	11: 94,383,220 (GRCm39)	P335T	possibly damaging	Het
Far2	T	A	6: 148,047,629 (GRCm39)	S103T	probably benign	Het
Fhip1a	G	C	3: 85,580,097 (GRCm39)	Q703E	probably benign	Het
Fhl2	A	G	1: 43,162,751 (GRCm39)	S255P	probably damaging	Het
Fmnl2	T	A	2: 52,932,321 (GRCm39)	V100D		Het
Gabbr1	T	C	17: 37,382,749 (GRCm39)	L814P	probably damaging	Het
Gzmg	C	T	14: 56,394,193 (GRCm39)	V234I	probably benign	Het
Ift172	A	G	5: 31,415,207 (GRCm39)	V1334A	probably benign	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Klrg1	T	C	6: 122,255,193 (GRCm39)	T80A	probably benign	Het
Lrp4	A	G	2: 91,308,043 (GRCm39)	N496S	probably benign	Het
Lsmem1	G	T	12: 40,227,145 (GRCm39)	N113K	probably damaging	Het
Map3k2	G	A	18: 32,345,117 (GRCm39)	S314N	probably damaging	Het
Mtpap	C	T	18: 4,387,032 (GRCm39)	R361*	probably null	Het
Muc5b	T	A	7: 141,418,831 (GRCm39)	S3926T	probably benign	Het
Nat10	C	A	2: 103,561,752 (GRCm39)	R643L	probably damaging	Het
Ncbp3	T	C	11: 72,938,808 (GRCm39)	V28A	probably benign	Het
Nlrp9a	T	C	7: 26,257,984 (GRCm39)	L534P	possibly damaging	Het
Nmi	T	C	2: 51,848,974 (GRCm39)	K39E	probably benign	Het
Nxpe4	A	G	9: 48,304,692 (GRCm39)	N260D	probably benign	Het
Or4k38	T	C	2: 111,166,318 (GRCm39)	Y35C	probably damaging	Het
Or51aa2	C	A	7: 103,187,965 (GRCm39)	V159L	probably benign	Het
Or6c213	T	A	10: 129,573,926 (GRCm39)	I287F	probably damaging	Het
Or8c19-ps1	G	A	9: 38,220,600 (GRCm39)	A170T	unknown	Het
Phf2	G	T	13: 48,971,878 (GRCm39)		probably benign	Het
Pirb	G	T	7: 3,720,728 (GRCm39)	L257M	probably damaging	Het
Plcg2	A	T	8: 118,306,585 (GRCm39)	D313V	possibly damaging	Het
Ppard	G	A	17: 28,517,864 (GRCm39)	V311I	possibly damaging	Het
Ptcd1	A	T	5: 145,092,175 (GRCm39)	M308K	probably damaging	Het
Pygo1	A	G	9: 72,852,436 (GRCm39)	N208D	possibly damaging	Het
Robo1	T	G	16: 72,832,719 (GRCm39)	D1497E	probably benign	Het
Sdk2	T	C	11: 113,730,169 (GRCm39)	D1022G	probably damaging	Het
Shc3	G	A	13: 51,615,475 (GRCm39)	H161Y	probably damaging	Het
Slc15a1	G	T	14: 121,724,423 (GRCm39)	Q150K	probably damaging	Het
Slc6a11	C	A	6: 114,206,995 (GRCm39)		probably benign	Het
Sod1	T	G	16: 90,023,039 (GRCm39)	V120G	probably damaging	Het
Spata31g1	T	C	4: 42,971,087 (GRCm39)	L140P	probably damaging	Het
Sprr2f	T	A	3: 92,273,323 (GRCm39)	C41S	unknown	Het
Svil	A	T	18: 5,049,068 (GRCm39)	Y115F	probably damaging	Het
Tdp1	T	C	12: 99,877,917 (GRCm39)	S400P	probably damaging	Het
Thbs4	A	T	13: 92,898,030 (GRCm39)	D596E	probably damaging	Het
Tshz1	T	A	18: 84,033,101 (GRCm39)	M436L	possibly damaging	Het
Ube3c	C	T	5: 29,812,029 (GRCm39)	T423I	probably benign	Het
Unc93a	A	T	17: 13,341,837 (GRCm39)	I98N	probably damaging	Het
Usp33	T	A	3: 152,085,213 (GRCm39)	Y624*	probably null	Het
Utp20	A	G	10: 88,588,763 (GRCm39)		probably benign	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Zfp867	A	G	11: 59,354,837 (GRCm39)	F164S	probably damaging	Het
Zswim1	C	T	2: 164,668,062 (GRCm39)	T438I	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
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-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'- TGAGACTCCCAGCCAACTTG -3'
(R):5'- AGCCAGTCCTATCCCTAAGC -3'

Sequencing Primer
(F):5'- TCCCAGCCAACTTGGGGTATG -3'
(R):5'- GCAGACTCTGTCAACTGAGCTATG -3'

Posted On

2021-03-08