Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:Aadacl2fm2'

289705

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: 0.078) question?

Stock #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

59637211-59659754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59651026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 49 (M49I)

Ref Sequence

ENSEMBL: ENSMUSP00000128877 (fasta)

Gene Model

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

AlphaFold

W4VSP6

Predicted Effect

probably benign
Transcript: ENSMUST00000168156
AA Change: M49I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: M49I

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	T	9: 99,502,266 (GRCm39)	T142I	probably benign	Het
Acaca	A	G	11: 84,105,084 (GRCm39)	T147A	possibly damaging	Het
Agbl3	A	G	6: 34,776,685 (GRCm39)	D397G	probably damaging	Het
Ank1	C	T	8: 23,625,654 (GRCm39)	T1597M	possibly damaging	Het
Arl4d	A	G	11: 101,557,755 (GRCm39)	T94A	possibly damaging	Het
Cd22	A	G	7: 30,575,559 (GRCm39)	I161T	probably damaging	Het
Clcn7	C	T	17: 25,365,821 (GRCm39)	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095 (GRCm39)	N110K	possibly damaging	Het
Col14a1	A	T	15: 55,327,165 (GRCm39)		probably benign	Het
Col6a6	C	T	9: 105,661,300 (GRCm39)	V270M	probably damaging	Het
Cox8b	C	A	7: 140,478,990 (GRCm39)	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,828,704 (GRCm39)	D275V	probably benign	Het
Cubn	T	A	2: 13,432,645 (GRCm39)		probably null	Het
Dctn2	T	C	10: 127,111,690 (GRCm39)		probably benign	Het
Dnm1l	A	G	16: 16,160,604 (GRCm39)		probably benign	Het
Dpp4	T	C	2: 62,164,988 (GRCm39)	E687G	probably benign	Het
Fbxw20	T	C	9: 109,052,377 (GRCm39)	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,167,550 (GRCm39)	W181*	probably null	Het
G2e3	T	A	12: 51,415,941 (GRCm39)	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,289,515 (GRCm39)	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,793,059 (GRCm39)	I572M	probably benign	Het
Gpatch2l	T	A	12: 86,303,711 (GRCm39)		probably benign	Het
Kcnq4	A	G	4: 120,573,051 (GRCm39)	L250P	probably damaging	Het
Lamc2	A	T	1: 153,041,962 (GRCm39)	N57K	probably benign	Het
Lingo1	A	G	9: 56,527,365 (GRCm39)	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,954,131 (GRCm39)	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,564,979 (GRCm39)	L545S	probably damaging	Het
Nup188	T	A	2: 30,213,648 (GRCm39)		probably null	Het
Or10q1	A	G	19: 13,727,298 (GRCm39)	D276G	probably benign	Het
Or11a4	A	G	17: 37,536,217 (GRCm39)	N67S	probably damaging	Het
Or5b94	T	C	19: 12,651,602 (GRCm39)	I11T	probably damaging	Het
Pls1	A	T	9: 95,666,236 (GRCm39)	N138K	probably benign	Het
Prkch	C	A	12: 73,749,286 (GRCm39)	N345K	probably benign	Het
Reps1	T	C	10: 17,931,865 (GRCm39)		probably null	Het
Rrp7a	T	C	15: 83,006,892 (GRCm39)	E15G	probably benign	Het
Scart2	A	T	7: 139,876,453 (GRCm39)	N526Y	probably damaging	Het
Scn1a	T	A	2: 66,108,005 (GRCm39)	T1557S	possibly damaging	Het
Smtn	T	C	11: 3,476,215 (GRCm39)	E602G	probably damaging	Het
Syvn1	T	C	19: 6,100,123 (GRCm39)		probably null	Het
Tbxas1	A	G	6: 39,000,014 (GRCm39)	D267G	probably damaging	Het
Topbp1	A	G	9: 103,205,722 (GRCm39)	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,615,051 (GRCm39)	S180R	probably damaging	Het
Zfp345	T	A	2: 150,316,463 (GRCm39)	E48D	possibly damaging	Het
Zfp608	G	A	18: 55,030,509 (GRCm39)	Q1144*	probably null	Het
Zfp936	T	A	7: 42,836,691 (GRCm39)	L34Q	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
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

2015-04-16