Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4418001:Atg9b'

555573

Institutional Source

Beutler Lab

Gene Symbol

Atg9b

Ensembl Gene

ENSMUSG00000038295

Gene Name

autophagy related 9B

Synonyms

Nos3as, Apg9l2, LOC213948, eONE

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4418001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24589179-24597141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24590513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 859 (S859T)

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

possibly damaging
Transcript: ENSMUST00000059401
AA Change: S859T

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: S859T

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

Coding Region Coverage

1x: 93.3%
3x: 90.8%
10x: 84.7%
20x: 71.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	T	C	6: 88,816,630 (GRCm39)	Y100C	possibly damaging	Het
Adamtsl1	T	C	4: 86,161,961 (GRCm39)	Y365H	probably damaging	Het
Atad2b	A	T	12: 5,074,587 (GRCm39)	I1049F	probably benign	Het
Banp	G	A	8: 122,732,365 (GRCm39)	A380T	probably damaging	Het
Brinp3	C	T	1: 146,777,161 (GRCm39)	T536I	probably damaging	Het
Cacna1c	T	C	6: 118,631,384 (GRCm39)	E1155G		Het
Capn12	T	C	7: 28,585,961 (GRCm39)	S270P	probably benign	Het
Cbs	A	T	17: 31,834,495 (GRCm39)	I498N	possibly damaging	Het
Cep68	T	C	11: 20,189,731 (GRCm39)	K427R	probably benign	Het
Cobl	G	A	11: 12,206,240 (GRCm39)	T545I	possibly damaging	Het
Cr2	T	A	1: 194,839,760 (GRCm39)	M556L	probably benign	Het
Crebbp	A	G	16: 3,932,689 (GRCm39)	S1068P	probably benign	Het
D2hgdh	C	T	1: 93,766,590 (GRCm39)	H385Y	possibly damaging	Het
Dennd1b	T	C	1: 139,008,999 (GRCm39)	L159P		Het
Dnajb4	A	T	3: 151,899,134 (GRCm39)	F31I	possibly damaging	Het
Dnajc16	A	G	4: 141,498,260 (GRCm39)	F369S	probably damaging	Het
Dtl	A	T	1: 191,273,429 (GRCm39)	L493H	possibly damaging	Het
Efcab5	T	A	11: 77,022,877 (GRCm39)	Q612L	possibly damaging	Het
Efr3b	A	T	12: 4,030,490 (GRCm39)	L407Q	possibly damaging	Het
Ehbp1	T	A	11: 22,003,494 (GRCm39)	Q1085L	probably damaging	Het
Ell	T	C	8: 71,034,331 (GRCm39)	V199A	probably damaging	Het
Elmod2	G	T	8: 84,048,171 (GRCm39)	T97K	probably benign	Het
Epn3	T	C	11: 94,386,956 (GRCm39)	E138G	probably damaging	Het
Esf1	A	T	2: 140,001,697 (GRCm39)	F383L	probably benign	Het
Fam193a	A	T	5: 34,597,879 (GRCm39)	T559S	probably damaging	Het
Galr2	T	C	11: 116,174,084 (GRCm39)	V238A	probably benign	Het
Gm3476	T	C	14: 6,118,411 (GRCm38)	I237M	probably benign	Het
Gm5160	A	T	18: 14,558,339 (GRCm39)	I139F	probably damaging	Het
Gpr15	T	C	16: 58,538,313 (GRCm39)	T259A	probably benign	Het
Iffo1	A	G	6: 125,126,746 (GRCm39)	K293E	possibly damaging	Het
Ikbip	T	A	10: 90,932,395 (GRCm39)	H346Q	probably benign	Het
Il4ra	G	A	7: 125,175,510 (GRCm39)	G573S	probably benign	Het
Ing2	A	T	8: 48,122,125 (GRCm39)	M141K	probably benign	Het
Itga6	T	C	2: 71,664,414 (GRCm39)	S517P	probably benign	Het
Itprid1	T	G	6: 55,945,330 (GRCm39)	S684A	probably damaging	Het
Kcnab1	A	G	3: 65,265,741 (GRCm39)	E295G	probably benign	Het
Klhl21	A	C	4: 152,099,835 (GRCm39)	Y515S	possibly damaging	Het
Lcn9	A	T	2: 25,714,553 (GRCm39)	Y139F	probably damaging	Het
Mcemp1	G	T	8: 3,717,052 (GRCm39)	L64F	probably null	Het
Mos	T	C	4: 3,870,814 (GRCm39)	D334G	possibly damaging	Het
Myo9b	T	G	8: 71,775,591 (GRCm39)	F338V	probably damaging	Het
Nefl	G	A	14: 68,323,979 (GRCm39)	V406M	probably damaging	Het
Nfam1	C	A	15: 82,885,689 (GRCm39)	R181L	probably damaging	Het
Ntn5	A	G	7: 45,335,925 (GRCm39)	R119G	probably damaging	Het
Or12e10	G	T	2: 87,640,938 (GRCm39)	C258F	probably damaging	Het
Or5b101	A	T	19: 13,005,095 (GRCm39)	Y199*	probably null	Het
Or7a40	T	C	16: 16,491,719 (GRCm39)	N42S	probably damaging	Het
Plch2	A	T	4: 155,073,960 (GRCm39)	V914E	probably damaging	Het
Ppp1r12c	T	C	7: 4,504,266 (GRCm39)	Q111R	probably null	Het
Ptchd3	T	A	11: 121,732,566 (GRCm39)	Y485*	probably null	Het
Ptchd4	T	A	17: 42,813,980 (GRCm39)	I627N	probably damaging	Het
Retnlb	T	C	16: 48,637,631 (GRCm39)	V19A	probably benign	Het
Rimbp2	T	A	5: 128,857,425 (GRCm39)	T809S	probably benign	Het
Sema6c	T	A	3: 95,077,401 (GRCm39)	D404E	possibly damaging	Het
Slc22a16	C	T	10: 40,479,821 (GRCm39)	A631V	unknown	Het
Snai3	A	T	8: 123,183,073 (GRCm39)	H157Q	probably benign	Het
Snx15	T	C	19: 6,173,961 (GRCm39)	Y52C	probably damaging	Het
Strbp	T	C	2: 37,535,504 (GRCm39)	E68G	probably benign	Het
Sun1	T	A	5: 139,212,343 (GRCm39)	D155E	probably damaging	Het
Susd2	T	C	10: 75,474,183 (GRCm39)	D627G	probably benign	Het
Tas2r108	T	A	6: 40,470,614 (GRCm39)	I30K	probably damaging	Het
Tmc2	T	C	2: 130,090,571 (GRCm39)	V639A	probably damaging	Het
Trmt1	T	C	8: 85,424,299 (GRCm39)	Y445H	probably damaging	Het
Ttn	A	T	2: 76,597,554 (GRCm39)	N19786K	probably damaging	Het
Vmn1r79	T	G	7: 11,910,766 (GRCm39)	V216G	probably damaging	Het
Wdr64	C	A	1: 175,571,160 (GRCm39)	Y331*	probably null	Het
Zfyve28	A	T	5: 34,390,721 (GRCm39)	V180E	probably damaging	Het
Zic4	C	T	9: 91,261,447 (GRCm39)	T234I	possibly damaging	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
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: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'- TTGGGAACAGATTCTGGGCC -3'
(R):5'- TGGGGCAGAATCTAAAAGGTTC -3'

Sequencing Primer
(F):5'- AACAGATTCTGGGCCCTCTG -3'
(R):5'- TCTAAAAGGTTCTTAGCGGGAACTG -3'

Posted On

2019-06-07