Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02056:Atg101'

185240

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: 0.296) question?

Stock #

IGL02056

Quality Score

Status

Chromosome

Chromosomal Location

101182182-101188855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101188218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 108 (S108P)

Ref Sequence

ENSEMBL: ENSMUSP00000045474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048393] [ENSMUST00000071328] [ENSMUST00000191426] [ENSMUST00000229525] [ENSMUST00000230525]

AlphaFold

Q9D8Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000048393
AA Change: S108P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045474
Gene: ENSMUSG00000037204
AA Change: S108P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071328

SMART Domains

Protein: ENSMUSP00000071291
Gene: ENSMUSG00000075408

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071328

Predicted Effect

probably benign
Transcript: ENSMUST00000191426

Predicted Effect

probably benign
Transcript: ENSMUST00000229525

Predicted Effect

probably damaging
Transcript: ENSMUST00000230525
AA Change: S108P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BB014433	A	T	8: 15,092,435 (GRCm39)	C139*	probably null	Het
Cacna1s	A	G	1: 136,046,738 (GRCm39)	N1808S	probably benign	Het
Ccdc148	A	G	2: 58,894,081 (GRCm39)		probably benign	Het
Dnah7a	T	G	1: 53,543,501 (GRCm39)	N2223T	probably benign	Het
Fgl2	T	A	5: 21,580,543 (GRCm39)	I295K	probably damaging	Het
Foxj3	T	C	4: 119,442,954 (GRCm39)	I126T	probably damaging	Het
Gm4540	T	A	3: 105,942,056 (GRCm39)		probably benign	Het
Hps5	T	G	7: 46,437,606 (GRCm39)	K156N	probably damaging	Het
Hsp90aa1	T	C	12: 110,660,449 (GRCm39)		probably benign	Het
Il12rb1	C	T	8: 71,263,831 (GRCm39)	R131*	probably null	Het
Itgb2l	T	C	16: 96,228,889 (GRCm39)	E438G	probably damaging	Het
Kplce	T	A	3: 92,776,200 (GRCm39)	Q161L	probably benign	Het
Nbeal2	A	T	9: 110,456,392 (GRCm39)	L2379Q	probably benign	Het
Neurl4	T	C	11: 69,796,616 (GRCm39)	V481A	probably damaging	Het
Nos1ap	A	G	1: 170,146,192 (GRCm39)	F454S	possibly damaging	Het
Pik3r5	G	T	11: 68,381,681 (GRCm39)	G242C	possibly damaging	Het
Pkd1l3	A	G	8: 110,358,010 (GRCm39)	N834S	probably benign	Het
Prkar2b	A	G	12: 32,025,909 (GRCm39)		probably benign	Het
Pusl1	T	C	4: 155,975,029 (GRCm39)	T191A	probably benign	Het
Rasal2	A	G	1: 157,126,831 (GRCm39)	V51A	probably damaging	Het
Rsc1a1	T	A	4: 141,412,796 (GRCm39)	I39F	probably benign	Het
Slc2a3	G	A	6: 122,712,437 (GRCm39)	P269L	probably damaging	Het
Sntb1	C	T	15: 55,511,435 (GRCm39)	G383D	possibly damaging	Het
Washc5	T	C	15: 59,222,185 (GRCm39)	T547A	possibly damaging	Het
Zfr	T	C	15: 12,154,533 (GRCm39)	V572A	probably damaging	Het
Zmym6	T	A	4: 126,997,207 (GRCm39)	N275K	probably damaging	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
IGL03237:Atg101	APN	15	101,185,054 (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

2014-05-07