Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02709:Aadacl2fm2'

304479

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 #

IGL02709

Quality Score

Status

Chromosome

Chromosomal Location

59637211-59659754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59654619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 151 (Y151C)

Ref Sequence

ENSEMBL: ENSMUSP00000128877 (fasta)

Gene Model

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

AlphaFold

W4VSP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000168156
AA Change: Y151C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: Y151C

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	G	A	4: 40,180,199 (GRCm39)	V367M	possibly damaging	Het
Acsm5	G	A	7: 119,134,041 (GRCm39)	W274*	probably null	Het
Ago1	G	A	4: 126,347,433 (GRCm39)	Q135*	probably null	Het
Bmpr1b	A	T	3: 141,562,314 (GRCm39)	L291Q	probably damaging	Het
Cdcp1	A	G	9: 123,002,879 (GRCm39)	Y731H	probably damaging	Het
Clrn2	A	G	5: 45,617,495 (GRCm39)	N122S	probably damaging	Het
Col4a3	G	T	1: 82,656,833 (GRCm39)	G751W	unknown	Het
Ctsc	C	T	7: 87,957,347 (GRCm39)	A294V	probably damaging	Het
Cyp26a1	T	C	19: 37,688,426 (GRCm39)	L316P	probably damaging	Het
Dennd6b	A	T	15: 89,075,125 (GRCm39)		probably benign	Het
Dnah10	T	A	5: 124,850,809 (GRCm39)	Y1659*	probably null	Het
Dspp	A	C	5: 104,325,116 (GRCm39)	D493A	unknown	Het
Dyrk1a	C	T	16: 94,486,102 (GRCm39)	A445V	probably benign	Het
E030025P04Rik	C	A	11: 109,030,324 (GRCm39)		probably benign	Het
Ecpas	A	G	4: 58,872,699 (GRCm39)	S201P	possibly damaging	Het
Foxd4	T	C	19: 24,876,973 (GRCm39)	H409R	probably damaging	Het
Fubp3	A	G	2: 31,485,343 (GRCm39)		probably benign	Het
Herc1	A	G	9: 66,404,962 (GRCm39)	K4511E	probably damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Map1lc3b	T	A	8: 122,322,768 (GRCm39)	L82Q	probably damaging	Het
Mcc	A	T	18: 44,578,877 (GRCm39)	S844T	possibly damaging	Het
Mccc1	A	T	3: 36,044,888 (GRCm39)	*85K	probably null	Het
Memo1	G	A	17: 74,552,027 (GRCm39)	L90F	probably damaging	Het
Mfrp	A	G	9: 44,014,561 (GRCm39)	H236R	probably benign	Het
Mmrn1	G	A	6: 60,950,030 (GRCm39)	D327N	probably damaging	Het
Mycbp2	T	C	14: 103,392,697 (GRCm39)	E3178G	probably damaging	Het
Pcsk9	A	G	4: 106,304,886 (GRCm39)		probably benign	Het
Pros1	T	C	16: 62,719,308 (GRCm39)	L110P	probably damaging	Het
Reck	A	G	4: 43,913,791 (GRCm39)	Y215C	probably damaging	Het
Ripk4	T	C	16: 97,544,766 (GRCm39)	D627G	probably damaging	Het
Rnf144a	G	T	12: 26,371,009 (GRCm39)	H151N	probably damaging	Het
Slc39a9	T	A	12: 80,713,421 (GRCm39)	H106Q	probably damaging	Het
Stab2	A	G	10: 86,682,029 (GRCm39)		probably benign	Het
Sympk	T	G	7: 18,781,463 (GRCm39)	H806Q	probably benign	Het
Tars2	C	A	3: 95,649,383 (GRCm39)		probably benign	Het
Thap3	T	A	4: 152,070,169 (GRCm39)	H75L	probably damaging	Het
Trappc8	T	C	18: 20,970,235 (GRCm39)	I918M	possibly damaging	Het
Ube2j2	T	C	4: 156,041,788 (GRCm39)	V249A	probably damaging	Het
Ubqln3	T	G	7: 103,790,543 (GRCm39)	T516P	probably benign	Het
Unc13c	A	G	9: 73,466,238 (GRCm39)	S1810P	probably benign	Het
Vmn1r4	T	A	6: 56,933,524 (GRCm39)	Y9*	probably null	Het
Vmn1r89	T	A	7: 12,954,131 (GRCm39)	M221K	probably damaging	Het
Vmn2r1	G	T	3: 64,012,355 (GRCm39)	V739F	probably benign	Het
Vmn2r25	C	T	6: 123,816,723 (GRCm39)	R286Q	possibly damaging	Het
Vmn2r91	T	A	17: 18,325,711 (GRCm39)	Y110N	possibly damaging	Het
Zbtb48	T	C	4: 152,105,851 (GRCm39)	H418R	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
IGL00934:Aadacl2fm2	APN	3	59,659,474 (GRCm39)	missense	probably benign	0.00
IGL02335:Aadacl2fm2	APN	3	59,651,026 (GRCm39)	missense	probably benign
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

2015-04-16