Mutagenetix > Incidental Mutation

Incidental Mutation 'RF021:Atg9a'

603857

Institutional Source

Beutler Lab

Gene Symbol

Atg9a

Ensembl Gene

ENSMUSG00000033124

Gene Name

autophagy related 9A

Synonyms

Apg9l1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75180860-75192196 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75182629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 826 (E826V)

Ref Sequence

ENSEMBL: ENSMUSP00000047449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027396] [ENSMUST00000040689] [ENSMUST00000188347] [ENSMUST00000189665] [ENSMUST00000189702]

AlphaFold

Q68FE2

Predicted Effect

probably benign
Transcript: ENSMUST00000027396

SMART Domains

Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198

Domain	Start	End	E-Value	Type
Pfam:MTABC_N	6	255	7.8e-80	PFAM
Pfam:ABC_membrane	265	544	3.7e-34	PFAM
AAA	615	816	1.29e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000040689
AA Change: E826V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124
AA Change: E826V

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
Pfam:APG9	173	530	3.4e-134	PFAM
low complexity region	588	599	N/A	INTRINSIC
low complexity region	607	621	N/A	INTRINSIC
Blast:HELICc	692	733	1e-13	BLAST
low complexity region	734	755	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187785

Predicted Effect

probably damaging
Transcript: ENSMUST00000188347
AA Change: E826V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124
AA Change: E826V

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
Pfam:APG9	172	533	2.4e-140	PFAM
low complexity region	588	599	N/A	INTRINSIC
low complexity region	607	621	N/A	INTRINSIC
Blast:HELICc	692	733	1e-13	BLAST
low complexity region	734	755	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189665

SMART Domains

Protein: ENSMUSP00000140012
Gene: ENSMUSG00000033124

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189702
AA Change: E826V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124
AA Change: E826V

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
Pfam:APG9	172	533	2.4e-140	PFAM
low complexity region	588	599	N/A	INTRINSIC
low complexity region	607	621	N/A	INTRINSIC
Blast:HELICc	692	733	1e-13	BLAST
low complexity region	734	755	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189820
AA Change: E818V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation all die within 1 day of birth and display impaired autophagy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,050,748		probably benign	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
Ankrd44	T	C	1: 54,778,312	H79R	probably damaging	Het
Atrnl1	T	C	19: 57,642,473	V224A	probably benign	Het
Cpn2	G	A	16: 30,259,338	A515V	probably benign	Het
Cyp2a12	T	C	7: 27,035,360	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,485,832		probably benign	Het
Diexf	A	G	1: 193,120,666	F248L	probably benign	Het
Dnah10	G	T	5: 124,777,907	V2016F	probably damaging	Het
Dock10	T	C	1: 80,564,573		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,874,773		probably benign	Het
Fam131a	A	C	16: 20,694,940		probably benign	Het
Gm6614	A	T	6: 142,008,714	V31E	probably damaging	Het
Gm7247	AGACCAGACC	A	14: 51,364,324		probably benign	Het
Gna13	T	C	11: 109,392,392	V186A	probably benign	Het
Grk3	T	A	5: 112,941,688	I333L	probably benign	Het
Gstp1	A	T	19: 4,035,507	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,803,865	V74G	possibly damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Kiz	A	G	2: 146,870,830	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,586,357		probably benign	Het
Lats1	A	G	10: 7,710,608	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 93,018,269		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 93,018,295		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676		probably null	Het
Med12l	T	C	3: 59,073,290	F359S	probably benign	Het
Mut	A	G	17: 40,951,758	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,149,109		probably benign	Het
Ngp	A	G	9: 110,421,756	T114A	possibly damaging	Het
Nlrc5	A	T	8: 94,476,888	T539S	probably benign	Het
Nxf1	A	G	19: 8,772,309	D190G	probably damaging	Het
Olfr229	A	T	9: 39,910,045	M81L	probably benign	Het
Olfr769	A	T	10: 129,112,342	F28I	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,808,756	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 156,096,106		probably benign	Het
Sema3g	C	T	14: 31,227,841	H660Y	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,997		probably benign	Het
Stpg2	A	T	3: 139,212,250		probably null	Het
Taar7f	C	T	10: 24,050,423	T305M	possibly damaging	Het
Tbcb	C	T	7: 30,224,346	V208M	probably damaging	Het
Tenm2	T	A	11: 36,024,203	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890	V108A	probably damaging	Het
Tmc8	T	C	11: 117,783,234	M42T	probably benign	Het
Trdc	T	C	14: 54,144,203	V115A		Het
Ttbk2	A	G	2: 120,748,634	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,335,316		probably benign	Het
Vps16	A	G	2: 130,438,209	H118R	probably benign	Het
Wdpcp	T	A	11: 21,711,587	C286*	probably null	Het
Zbed4	C	A	15: 88,781,236	Y502*	probably null	Het
Zdbf2	T	A	1: 63,302,652	N63K	possibly damaging	Het

Other mutations in Atg9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01464:Atg9a	APN	1	75190366	missense	probably damaging	1.00
IGL02041:Atg9a	APN	1	75183104	missense	possibly damaging	0.47
IGL03367:Atg9a	APN	1	75187957	missense	probably benign	0.18
PIT4494001:Atg9a	UTSW	1	75187953	nonsense	probably null
R0054:Atg9a	UTSW	1	75184499	missense	probably damaging	1.00
R0054:Atg9a	UTSW	1	75184499	missense	probably damaging	1.00
R0408:Atg9a	UTSW	1	75185295	missense	probably damaging	1.00
R0520:Atg9a	UTSW	1	75186534	nonsense	probably null
R0653:Atg9a	UTSW	1	75190328	missense	probably damaging	0.96
R0666:Atg9a	UTSW	1	75185090	missense	probably damaging	0.99
R0961:Atg9a	UTSW	1	75186746	missense	probably damaging	0.99
R1489:Atg9a	UTSW	1	75186090	missense	probably damaging	1.00
R1490:Atg9a	UTSW	1	75185745	missense	possibly damaging	0.70
R1692:Atg9a	UTSW	1	75190355	missense	probably benign	0.04
R1997:Atg9a	UTSW	1	75189626	missense	probably benign	0.33
R2005:Atg9a	UTSW	1	75185991	missense	probably benign	0.18
R2172:Atg9a	UTSW	1	75185685	missense	probably damaging	0.99
R4004:Atg9a	UTSW	1	75186451	missense	probably damaging	1.00
R4105:Atg9a	UTSW	1	75185959	missense	probably damaging	1.00
R5010:Atg9a	UTSW	1	75186060	splice site	probably null
R5220:Atg9a	UTSW	1	75185728	missense	probably damaging	1.00
R5898:Atg9a	UTSW	1	75186272	missense	probably damaging	1.00
R6295:Atg9a	UTSW	1	75185058	missense	probably benign	0.01
R6390:Atg9a	UTSW	1	75187981	missense	probably damaging	1.00
R7312:Atg9a	UTSW	1	75188092	missense	probably damaging	1.00
R7729:Atg9a	UTSW	1	75184560	missense	probably benign	0.34
R8111:Atg9a	UTSW	1	75187722	missense	probably damaging	1.00
R8210:Atg9a	UTSW	1	75185283	missense	probably damaging	1.00
R8210:Atg9a	UTSW	1	75186365	missense	probably damaging	1.00
R8256:Atg9a	UTSW	1	75186919	missense	possibly damaging	0.88
R8319:Atg9a	UTSW	1	75185698	nonsense	probably null
R8321:Atg9a	UTSW	1	75185698	nonsense	probably null
R8382:Atg9a	UTSW	1	75185698	nonsense	probably null
R8406:Atg9a	UTSW	1	75190384	missense	probably damaging	1.00
R8482:Atg9a	UTSW	1	75186226	missense	probably damaging	0.99
R8855:Atg9a	UTSW	1	75185223	missense	probably damaging	1.00
R8866:Atg9a	UTSW	1	75185223	missense	probably damaging	1.00
R9381:Atg9a	UTSW	1	75186082	missense	probably benign
R9441:Atg9a	UTSW	1	75186442	missense	possibly damaging	0.92
R9442:Atg9a	UTSW	1	75186442	missense	possibly damaging	0.92
R9448:Atg9a	UTSW	1	75186205	missense	probably benign	0.35
R9608:Atg9a	UTSW	1	75185095	missense	possibly damaging	0.52
R9703:Atg9a	UTSW	1	75185787	missense	probably damaging	0.98
Z1176:Atg9a	UTSW	1	75186559	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTAAGTCTTGAACTTCAGAGCAG -3'
(R):5'- ACTAAGCCTCCAAGTGGTCC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- AAGTGGTCCTCAGAACCTTCC -3'

Posted On

2019-12-04