Mutagenetix > Incidental Mutation

Incidental Mutation 'R2005:Atg9a'

225300

Institutional Source

Beutler Lab

Gene Symbol

Atg9a

Ensembl Gene

ENSMUSG00000033124

Gene Name

autophagy related 9A

Synonyms

Apg9l1

MMRRC Submission

040014-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75180860-75192196 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75185991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 460 (Q460L)

Ref Sequence

ENSEMBL: ENSMUSP00000139641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040689] [ENSMUST00000186744] [ENSMUST00000188347] [ENSMUST00000189665] [ENSMUST00000189702]

AlphaFold

Q68FE2

Predicted Effect

probably benign
Transcript: ENSMUST00000040689
AA Change: Q460L

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124
AA Change: Q460L

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

noncoding transcript
Transcript: ENSMUST00000185727

Predicted Effect

probably benign
Transcript: ENSMUST00000186744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187601

Predicted Effect

unknown
Transcript: ENSMUST00000187785
AA Change: Q19L

Predicted Effect

probably benign
Transcript: ENSMUST00000188347
AA Change: Q460L

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124
AA Change: Q460L

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

noncoding transcript
Transcript: ENSMUST00000188430

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 benign
Transcript: ENSMUST00000189702
AA Change: Q460L

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124
AA Change: Q460L

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

unknown
Transcript: ENSMUST00000189820
AA Change: Q452L

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,877,827	A961V	probably benign	Het
Adcy10	A	G	1: 165,525,022	Y475C	probably benign	Het
Adgrb3	T	C	1: 25,111,718	M1145V	probably benign	Het
Akr1c21	A	G	13: 4,574,215	T23A	probably damaging	Het
Ankrd33b	A	T	15: 31,297,668	S314R	probably damaging	Het
Apc	T	C	18: 34,310,909		probably null	Het
Birc3	C	T	9: 7,860,341	C292Y	probably damaging	Het
Capn5	T	C	7: 98,129,363	I350V	probably benign	Het
Cc2d2a	G	A	5: 43,726,373		probably null	Het
Cdh22	T	A	2: 165,180,923	E76V	probably damaging	Het
Cdh8	T	C	8: 99,033,471		probably null	Het
Cdkn1b	ATTCTTCTTC	ATTCTTCTTCTTC	6: 134,921,956		probably benign	Het
Cfap54	T	A	10: 92,884,768	D2608V	unknown	Het
Crebrf	T	C	17: 26,742,883	V318A	possibly damaging	Het
Cwf19l2	A	T	9: 3,430,720	N351Y	possibly damaging	Het
Cyp2c67	A	T	19: 39,643,345	M136K	probably damaging	Het
Ddx10	A	G	9: 53,240,475		probably null	Het
Ddx47	A	G	6: 135,018,121	N92S	probably benign	Het
Ddx50	T	A	10: 62,640,464	H306L	probably benign	Het
Dnajc27	A	G	12: 4,097,317	T167A	possibly damaging	Het
Dscam	T	G	16: 97,038,920	K162N	probably benign	Het
Eif4h	G	A	5: 134,627,677	T53I	probably benign	Het
Elmo2	T	C	2: 165,298,279	N332S	probably benign	Het
Ergic3	A	G	2: 156,011,108	N157S	possibly damaging	Het
F2rl1	G	T	13: 95,513,274	R367S	probably damaging	Het
Fbxo36	G	A	1: 84,900,069	A151T	probably benign	Het
Foxf2	G	T	13: 31,626,141	R21L	unknown	Het
Gmip	T	A	8: 69,814,043	H269Q	probably benign	Het
Gng4	T	A	13: 13,806,166	V32E	probably benign	Het
Grm3	T	C	5: 9,589,793	Y84C	possibly damaging	Het
Helz2	C	T	2: 181,231,329	R2396H	probably benign	Het
Icosl	A	T	10: 78,071,953	M116L	possibly damaging	Het
Itgb3bp	A	C	4: 99,814,058	N16K	probably benign	Het
Kcnt2	A	G	1: 140,553,018	M824V	probably damaging	Het
Mki67	T	A	7: 135,698,509	K1599*	probably null	Het
Mmp25	G	A	17: 23,640,242	R144W	probably damaging	Het
Mmrn1	A	T	6: 60,976,084	I450F	possibly damaging	Het
Mroh2b	A	T	15: 4,917,158	K480M	probably damaging	Het
Nbn	T	A	4: 15,979,351	D445E	probably benign	Het
Npbwr1	T	A	1: 5,916,351	S315C	probably damaging	Het
Olfr1118	T	A	2: 87,309,448	S240T	probably benign	Het
Olfr1166	A	G	2: 88,124,547	L146P	probably damaging	Het
Olfr378	A	T	11: 73,425,239	V248E	probably damaging	Het
Olfr828	G	A	9: 18,815,505	S263L	probably benign	Het
Pard3b	A	T	1: 62,144,891	E183D	probably benign	Het
Pde10a	G	A	17: 8,929,091		probably null	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Prdm13	T	C	4: 21,685,695		probably benign	Het
Rc3h2	T	A	2: 37,389,753	K461*	probably null	Het
Reep2	C	T	18: 34,845,621	T117M	probably damaging	Het
Rhbdd1	A	G	1: 82,340,810	N138S	probably benign	Het
Rnf19a	A	T	15: 36,241,770	F708I	possibly damaging	Het
Robo2	G	A	16: 73,933,115	H1069Y	possibly damaging	Het
Rpl9	C	T	5: 65,389,535	V112I	probably benign	Het
Sec16a	A	C	2: 26,439,080	S974R	probably benign	Het
Sfrp5	A	G	19: 42,198,836	M265T	probably benign	Het
Skint7	T	C	4: 111,984,850	I305T	probably benign	Het
Slc6a7	T	C	18: 61,001,641	D454G	possibly damaging	Het
Slco6c1	A	G	1: 97,081,489	I407T	probably damaging	Het
Slfn8	A	T	11: 83,004,150	M610K	probably damaging	Het
Spidr	A	G	16: 16,048,049	S299P	probably damaging	Het
Sptbn4	C	T	7: 27,366,419	W2034*	probably null	Het
Stard9	T	A	2: 120,664,945	F100L	possibly damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stc1	T	C	14: 69,031,647		probably null	Het
Sun2	T	C	15: 79,726,624	E667G	possibly damaging	Het
Tacc2	T	C	7: 130,731,550	S511P	probably damaging	Het
Tasp1	T	G	2: 139,977,678	K202Q	probably damaging	Het
Tdrd6	A	G	17: 43,628,655	F501L	probably damaging	Het
Tgds	A	G	14: 118,130,656	V35A	possibly damaging	Het
Tubgcp6	G	A	15: 89,104,166	T860I	probably benign	Het
Twf1	C	T	15: 94,585,447		probably null	Het
Vangl1	A	G	3: 102,163,466	S385P	probably benign	Het
Vmn2r117	A	G	17: 23,477,644	I263T	probably damaging	Het
Washc5	A	G	15: 59,341,155	L892P	possibly damaging	Het
Wnk4	T	C	11: 101,263,890	C302R	probably damaging	Het
Zfp395	A	G	14: 65,388,885	E191G	possibly damaging	Het
Zkscan17	A	G	11: 59,492,216	L302P	probably 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
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
RF021:Atg9a	UTSW	1	75182629	missense	probably damaging	0.96
Z1176:Atg9a	UTSW	1	75186559	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAGAAGTCTATGATCTCCAGGG -3'
(R):5'- AGTGGCATTCTGGGAAAGGC -3'

Sequencing Primer
(F):5'- TGACGATGGGACTCAGCAACTC -3'
(R):5'- AAAGGCTTCTTTCTGTCTCACCATG -3'

Posted On

2014-08-25