Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00934:Aadacl2fm2'

27108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aadacl2fm2

Ensembl Gene

ENSMUSG00000090527

Gene Name

AADACL2 family member 2

Synonyms

Gm5538

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL00934

Quality Score

Status

Chromosome

Chromosomal Location

59637211-59659754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59659474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 309 (Y309F)

Ref Sequence

ENSEMBL: ENSMUSP00000128877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168156]

AlphaFold

W4VSP6

Predicted Effect

probably benign
Transcript: ENSMUST00000168156
AA Change: Y309F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: Y309F

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
Pfam:DUF2424	70	214	9.3e-9	PFAM
Pfam:COesterase	91	236	5.4e-10	PFAM
Pfam:Abhydrolase_3	107	287	6.6e-36	PFAM
Pfam:Abhydrolase_3	271	375	1.4e-13	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	T	A	9: 36,605,688 (GRCm39)	H78Q	possibly damaging	Het
Camk2g	C	T	14: 20,787,398 (GRCm39)	G500S	probably damaging	Het
Ccr1	A	G	9: 123,763,777 (GRCm39)	L251P	probably damaging	Het
Dgkb	G	A	12: 38,477,455 (GRCm39)	A622T	probably damaging	Het
Fat4	C	A	3: 38,944,822 (GRCm39)	D1238E	probably damaging	Het
Gfpt2	G	T	11: 49,699,950 (GRCm39)	V102F	probably benign	Het
Kif2a	A	C	13: 107,105,301 (GRCm39)		probably benign	Het
Klk1b9	T	C	7: 43,627,878 (GRCm39)	W59R	probably damaging	Het
Lonp1	T	C	17: 56,921,683 (GRCm39)	T875A	probably benign	Het
Mical2	A	G	7: 111,948,610 (GRCm39)	Y802C	probably damaging	Het
Neurl1b	C	A	17: 26,651,152 (GRCm39)	D141E	probably damaging	Het
Or2f1	A	T	6: 42,721,625 (GRCm39)	Y218F	probably damaging	Het
Or51b17	G	T	7: 103,542,071 (GRCm39)	Y290*	probably null	Het
Pcdhga3	A	G	18: 37,808,486 (GRCm39)	E313G	possibly damaging	Het
Usp32	A	T	11: 84,897,902 (GRCm39)	D1146E	probably damaging	Het

Other mutations in Aadacl2fm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Aadacl2fm2	APN	3	59,659,542 (GRCm39)	missense	possibly damaging	0.91
IGL02335:Aadacl2fm2	APN	3	59,651,026 (GRCm39)	missense	probably benign
IGL02709:Aadacl2fm2	APN	3	59,654,619 (GRCm39)	missense	probably damaging	1.00
IGL03114:Aadacl2fm2	APN	3	59,651,144 (GRCm39)	missense	possibly damaging	0.55
R0107:Aadacl2fm2	UTSW	3	59,659,737 (GRCm39)	missense	possibly damaging	0.78
R0591:Aadacl2fm2	UTSW	3	59,659,550 (GRCm39)	nonsense	probably null
R0850:Aadacl2fm2	UTSW	3	59,659,669 (GRCm39)	missense	possibly damaging	0.80
R1127:Aadacl2fm2	UTSW	3	59,659,314 (GRCm39)	missense	probably benign	0.00
R1916:Aadacl2fm2	UTSW	3	59,652,924 (GRCm39)	missense	possibly damaging	0.48
R3008:Aadacl2fm2	UTSW	3	59,652,930 (GRCm39)	missense	possibly damaging	0.93
R3921:Aadacl2fm2	UTSW	3	59,659,498 (GRCm39)	missense	probably damaging	0.98
R4368:Aadacl2fm2	UTSW	3	59,659,387 (GRCm39)	missense	probably damaging	1.00
R5240:Aadacl2fm2	UTSW	3	59,659,449 (GRCm39)	missense	probably damaging	0.99
R5268:Aadacl2fm2	UTSW	3	59,659,444 (GRCm39)	missense	probably damaging	0.99
R5511:Aadacl2fm2	UTSW	3	59,654,685 (GRCm39)	missense	probably damaging	1.00
R5564:Aadacl2fm2	UTSW	3	59,659,513 (GRCm39)	missense	probably benign
R5812:Aadacl2fm2	UTSW	3	59,654,693 (GRCm39)	missense	probably damaging	1.00
R5981:Aadacl2fm2	UTSW	3	59,659,299 (GRCm39)	missense	probably benign
R6049:Aadacl2fm2	UTSW	3	59,659,570 (GRCm39)	missense	probably damaging	1.00
R6195:Aadacl2fm2	UTSW	3	59,659,623 (GRCm39)	missense	probably damaging	0.98
R6353:Aadacl2fm2	UTSW	3	59,659,529 (GRCm39)	missense	probably damaging	1.00
R6449:Aadacl2fm2	UTSW	3	59,652,972 (GRCm39)	missense	probably damaging	1.00
R6845:Aadacl2fm2	UTSW	3	59,659,539 (GRCm39)	missense	probably damaging	1.00
R7382:Aadacl2fm2	UTSW	3	59,651,037 (GRCm39)	missense	probably benign	0.18
R7585:Aadacl2fm2	UTSW	3	59,651,143 (GRCm39)	missense	possibly damaging	0.94
R7827:Aadacl2fm2	UTSW	3	59,651,112 (GRCm39)	missense	probably damaging	0.99
R7844:Aadacl2fm2	UTSW	3	59,637,318 (GRCm39)	missense	probably benign	0.32
R8308:Aadacl2fm2	UTSW	3	59,659,570 (GRCm39)	missense	probably damaging	1.00
R8830:Aadacl2fm2	UTSW	3	59,654,744 (GRCm39)	missense	probably benign	0.03
R9447:Aadacl2fm2	UTSW	3	59,651,051 (GRCm39)	missense	probably damaging	0.96
R9557:Aadacl2fm2	UTSW	3	59,659,160 (GRCm39)	missense	possibly damaging	0.89
Z1176:Aadacl2fm2	UTSW	3	59,654,615 (GRCm39)	missense	probably benign	0.08

Posted On

2013-04-17