Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03237:Atg101'

414098

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atg101

Ensembl Gene

ENSMUSG00000037204

Gene Name

autophagy related 101

Synonyms

9430023L20Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

IGL03237

Quality Score

Status

Chromosome

Chromosomal Location

101182182-101188855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101185054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 59 (F59L)

Ref Sequence

ENSEMBL: ENSMUSP00000045474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048393] [ENSMUST00000229525] [ENSMUST00000230525]

AlphaFold

Q9D8Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000048393
AA Change: F59L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045474
Gene: ENSMUSG00000037204
AA Change: F59L

Domain	Start	End	E-Value	Type
Pfam:DUF1649	9	172	4.6e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229525
AA Change: F59L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230525
AA Change: F59L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,929,388 (GRCm39)	Y405C	probably benign	Het
Adam19	A	G	11: 46,028,383 (GRCm39)	K672R	probably benign	Het
Adamts7	C	A	9: 90,070,717 (GRCm39)	P613T	probably damaging	Het
Adgrl1	G	T	8: 84,656,312 (GRCm39)		probably null	Het
Adrb1	A	T	19: 56,711,800 (GRCm39)	N333Y	probably damaging	Het
Aqp7	C	T	4: 41,034,884 (GRCm39)	V190M	possibly damaging	Het
Capn12	T	C	7: 28,590,366 (GRCm39)	S638P	probably damaging	Het
Ccm2l	T	C	2: 152,907,922 (GRCm39)		probably benign	Het
Cdc14a	A	T	3: 116,198,275 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 110,066,037 (GRCm39)	K770N	possibly damaging	Het
Clxn	A	G	16: 14,738,652 (GRCm39)	D161G	probably damaging	Het
Col23a1	A	C	11: 51,458,746 (GRCm39)	E294D	possibly damaging	Het
Cped1	A	T	6: 22,233,595 (GRCm39)	Y679F	probably damaging	Het
Ctu2	A	G	8: 123,205,792 (GRCm39)	E180G	probably benign	Het
Cyp11b2	C	T	15: 74,722,914 (GRCm39)	V495I	probably benign	Het
Ecpas	A	T	4: 58,810,668 (GRCm39)	M1563K	probably benign	Het
Gabrg3	A	T	7: 56,632,460 (GRCm39)		probably null	Het
Hsd17b11	A	G	5: 104,151,036 (GRCm39)	*233Q	probably null	Het
Klhl41	T	C	2: 69,500,902 (GRCm39)	V121A	possibly damaging	Het
Kptn	A	T	7: 15,854,050 (GRCm39)	D56V	probably damaging	Het
L3mbtl4	T	A	17: 69,084,856 (GRCm39)	I589N	probably damaging	Het
Lpl	A	T	8: 69,347,378 (GRCm39)	N177Y	possibly damaging	Het
Manba	G	A	3: 135,250,512 (GRCm39)	V380M	probably damaging	Het
Mecom	A	T	3: 30,010,648 (GRCm39)		probably benign	Het
Mertk	A	G	2: 128,632,192 (GRCm39)	E707G	probably damaging	Het
Myo5a	A	T	9: 75,037,276 (GRCm39)	I160F	probably damaging	Het
Myo7a	A	T	7: 97,751,800 (GRCm39)	I81N	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nipal1	C	T	5: 72,824,150 (GRCm39)	R76C	probably damaging	Het
Noc3l	C	T	19: 38,803,125 (GRCm39)		probably null	Het
Nt5e	A	G	9: 88,237,787 (GRCm39)	D239G	probably damaging	Het
Olr1	A	C	6: 129,479,117 (GRCm39)	W34G	probably damaging	Het
Plekhf1	A	T	7: 37,920,799 (GRCm39)	N256K	probably benign	Het
Psen2	T	C	1: 180,068,414 (GRCm39)	T80A	possibly damaging	Het
Psg27	A	G	7: 18,294,417 (GRCm39)	I330T	probably benign	Het
Ranbp2	T	C	10: 58,328,783 (GRCm39)	V2894A	probably damaging	Het
Sgcz	A	T	8: 38,030,332 (GRCm39)	D170E	probably benign	Het
Snrnp200	C	T	2: 127,075,233 (GRCm39)	A1573V	probably damaging	Het
Steap3	C	T	1: 120,171,520 (GRCm39)	G195D	probably damaging	Het
Tmem165	T	A	5: 76,347,356 (GRCm39)	Y5*	probably null	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Vmn2r67	A	T	7: 84,799,118 (GRCm39)	C530S	probably damaging	Het
Wdfy3	T	A	5: 101,992,465 (GRCm39)	D3389V	probably damaging	Het
Zfp128	A	C	7: 12,624,953 (GRCm39)	E440D	probably benign	Het

Other mutations in Atg101

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:Atg101	APN	15	101,184,976 (GRCm39)	missense	possibly damaging	0.94
IGL02056:Atg101	APN	15	101,188,218 (GRCm39)	missense	probably damaging	0.99
R1329:Atg101	UTSW	15	101,188,171 (GRCm39)	missense	probably null	0.48
R2096:Atg101	UTSW	15	101,188,382 (GRCm39)	missense	possibly damaging	0.85
R4622:Atg101	UTSW	15	101,191,213 (GRCm39)	unclassified	probably benign
R6159:Atg101	UTSW	15	101,188,519 (GRCm39)	missense	possibly damaging	0.52
R6414:Atg101	UTSW	15	101,188,341 (GRCm39)	missense	probably benign	0.00
R8511:Atg101	UTSW	15	101,188,503 (GRCm39)	missense	probably damaging	1.00
R9644:Atg101	UTSW	15	101,188,447 (GRCm39)	missense	probably benign	0.35

Posted On

2016-08-02