Mutagenetix > Incidental Mutation

Incidental Mutation 'R1436:Aadacl2fm3'

159504

Institutional Source

Beutler Lab

Gene Symbol

Aadacl2fm3

Ensembl Gene

ENSMUSG00000095522

Gene Name

AADACL2 family member 3

Synonyms

Gm8298

MMRRC Submission

039491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59768472-59784734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59772760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 88 (D88V)

Ref Sequence

ENSEMBL: ENSMUSP00000137307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179799]

AlphaFold

J3QPI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000179799
AA Change: D88V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137307
Gene: ENSMUSG00000095522
AA Change: D88V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:COesterase	91	217	9.6e-7	PFAM
Pfam:Abhydrolase_3	107	279	1.1e-36	PFAM
Pfam:Abhydrolase_3	284	375	1.2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194941

Meta Mutation Damage Score

0.6529

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 86.8%

Validation Efficiency

94% (65/69)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,621,172 (GRCm39)	F292S	probably benign	Het
Abca13	T	C	11: 9,242,646 (GRCm39)	V1503A	probably damaging	Het
AI661453	C	T	17: 47,777,627 (GRCm39)		probably benign	Het
Ano2	T	C	6: 125,844,134 (GRCm39)		probably null	Het
Areg	G	T	5: 91,287,664 (GRCm39)		probably benign	Het
Atg16l2	A	G	7: 100,940,757 (GRCm39)	V453A	probably damaging	Het
BC034090	A	G	1: 155,101,662 (GRCm39)	S563P	probably benign	Het
Bhmt-ps1	A	G	4: 26,369,591 (GRCm39)		noncoding transcript	Het
Birc6	C	A	17: 74,959,700 (GRCm39)	P3855Q	probably damaging	Het
Cd151	A	T	7: 141,049,197 (GRCm39)	K8M	probably damaging	Het
Cd163	T	C	6: 124,304,890 (GRCm39)	V1089A	possibly damaging	Het
Chd3	A	T	11: 69,248,400 (GRCm39)		probably null	Het
Cnot6l	T	A	5: 96,281,971 (GRCm39)	E9V	probably damaging	Het
Col22a1	A	G	15: 71,794,806 (GRCm39)		probably benign	Het
Cyp2c68	A	G	19: 39,729,484 (GRCm39)	M1T	probably null	Het
Dbp	T	C	7: 45,357,879 (GRCm39)	V149A	probably damaging	Het
Dnah10	T	C	5: 124,839,285 (GRCm39)	V1241A	probably benign	Het
Galnt10	T	C	11: 57,662,295 (GRCm39)	S314P	probably damaging	Het
Glce	C	T	9: 61,977,292 (GRCm39)		probably null	Het
Gm5093	C	G	17: 46,750,680 (GRCm39)	D116H	probably damaging	Het
Golim4	A	G	3: 75,785,951 (GRCm39)		probably null	Het
Helz2	A	T	2: 180,877,317 (GRCm39)	I1107N	probably damaging	Het
Hoxc9	T	C	15: 102,890,304 (GRCm39)	S74P	probably benign	Het
Ikbkb	T	A	8: 23,163,419 (GRCm39)	N297I	probably benign	Het
Il20ra	T	A	10: 19,625,000 (GRCm39)	I93N	probably damaging	Het
Itch	C	A	2: 155,034,065 (GRCm39)	N412K	probably damaging	Het
Kcna5	T	A	6: 126,511,724 (GRCm39)	T135S	probably damaging	Het
Lncpint	G	A	6: 31,157,974 (GRCm39)		noncoding transcript	Het
Lrrc39	A	T	3: 116,373,293 (GRCm39)		probably null	Het
Mad2l1	T	A	6: 66,516,797 (GRCm39)	V163E	possibly damaging	Het
Moxd1	C	T	10: 24,120,256 (GRCm39)	T128M	probably damaging	Het
Mpeg1	C	T	19: 12,439,823 (GRCm39)	S427F	probably damaging	Het
Nckap5	T	C	1: 125,953,798 (GRCm39)	Y854C	possibly damaging	Het
Ncln	C	T	10: 81,325,727 (GRCm39)	E373K	probably damaging	Het
Neurod4	T	C	10: 130,106,540 (GRCm39)	T245A	possibly damaging	Het
Nsun5	T	C	5: 135,399,067 (GRCm39)	L39P	probably damaging	Het
Or2ad1	G	T	13: 21,327,162 (GRCm39)	Q22K	probably benign	Het
Or4c105	A	T	2: 88,648,336 (GRCm39)	T274S	possibly damaging	Het
Or4f7	A	G	2: 111,644,906 (GRCm39)	L55S	probably damaging	Het
Pde8b	T	C	13: 95,162,678 (GRCm39)	T815A	probably benign	Het
Pofut2	C	T	10: 77,104,398 (GRCm39)	R392W	probably damaging	Het
Ppip5k2	G	A	1: 97,639,507 (GRCm39)	T1186I	probably benign	Het
Rhot2	A	C	17: 26,060,374 (GRCm39)	S277R	probably benign	Het
Satb1	T	G	17: 52,111,391 (GRCm39)		probably null	Het
Sec31b	T	C	19: 44,524,634 (GRCm39)	I88V	probably damaging	Het
Selenon	T	A	4: 134,267,997 (GRCm39)	E483V	probably damaging	Het
Serpinc1	A	G	1: 160,820,981 (GRCm39)	T22A	possibly damaging	Het
Sf3a2	G	A	10: 80,640,040 (GRCm39)		probably benign	Het
Sf3b1	A	G	1: 55,040,580 (GRCm39)	Y561H	possibly damaging	Het
Smarcc1	T	A	9: 109,947,708 (GRCm39)		probably benign	Het
Stard3nl	C	T	13: 19,556,819 (GRCm39)	R107Q	probably damaging	Het
Syce1	C	T	7: 140,357,593 (GRCm39)	R324H	possibly damaging	Het
Tnk1	G	T	11: 69,743,119 (GRCm39)		probably benign	Het
Trim46	A	G	3: 89,150,968 (GRCm39)	F198L	probably damaging	Het
Trip4	A	T	9: 65,788,233 (GRCm39)	W71R	probably damaging	Het
Ubox5	A	C	2: 130,439,213 (GRCm39)		probably benign	Het
Ust	G	A	10: 8,183,202 (GRCm39)	T167M	probably damaging	Het
Zbtb2	T	C	10: 4,318,697 (GRCm39)	Q443R	probably benign	Het
Zfp407	A	G	18: 84,361,196 (GRCm39)		probably benign	Het

Other mutations in Aadacl2fm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Aadacl2fm3	APN	3	59,776,321 (GRCm39)	missense	possibly damaging	0.80
IGL02064:Aadacl2fm3	APN	3	59,784,463 (GRCm39)	missense	probably damaging	1.00
IGL02317:Aadacl2fm3	APN	3	59,784,408 (GRCm39)	missense	probably benign	0.00
R0270:Aadacl2fm3	UTSW	3	59,784,440 (GRCm39)	missense	probably benign
R0580:Aadacl2fm3	UTSW	3	59,784,470 (GRCm39)	missense	probably damaging	1.00
R1124:Aadacl2fm3	UTSW	3	59,772,639 (GRCm39)	missense	probably benign	0.39
R1208:Aadacl2fm3	UTSW	3	59,772,715 (GRCm39)	missense	probably benign	0.27
R1208:Aadacl2fm3	UTSW	3	59,772,715 (GRCm39)	missense	probably benign	0.27
R1222:Aadacl2fm3	UTSW	3	59,784,682 (GRCm39)	nonsense	probably null
R1529:Aadacl2fm3	UTSW	3	59,768,533 (GRCm39)	missense	probably benign
R1806:Aadacl2fm3	UTSW	3	59,784,571 (GRCm39)	missense	probably damaging	1.00
R2130:Aadacl2fm3	UTSW	3	59,772,769 (GRCm39)	missense	probably damaging	1.00
R4209:Aadacl2fm3	UTSW	3	59,784,577 (GRCm39)	missense	probably damaging	1.00
R4597:Aadacl2fm3	UTSW	3	59,784,214 (GRCm39)	missense	possibly damaging	0.47
R4910:Aadacl2fm3	UTSW	3	59,776,435 (GRCm39)	critical splice donor site	probably null
R5571:Aadacl2fm3	UTSW	3	59,784,640 (GRCm39)	missense	probably damaging	1.00
R6131:Aadacl2fm3	UTSW	3	59,776,324 (GRCm39)	missense	possibly damaging	0.76
R6447:Aadacl2fm3	UTSW	3	59,772,819 (GRCm39)	missense	probably damaging	0.99
R6481:Aadacl2fm3	UTSW	3	59,768,478 (GRCm39)	missense	probably benign	0.00
R6795:Aadacl2fm3	UTSW	3	59,776,357 (GRCm39)	missense	probably damaging	1.00
R7092:Aadacl2fm3	UTSW	3	59,768,500 (GRCm39)	missense	probably benign	0.41
R7334:Aadacl2fm3	UTSW	3	59,776,380 (GRCm39)	missense	probably damaging	1.00
R7602:Aadacl2fm3	UTSW	3	59,784,697 (GRCm39)	missense	probably benign	0.17
R7660:Aadacl2fm3	UTSW	3	59,772,689 (GRCm39)	missense	probably benign	0.05
R7705:Aadacl2fm3	UTSW	3	59,784,168 (GRCm39)	missense	probably benign	0.25
R7708:Aadacl2fm3	UTSW	3	59,772,756 (GRCm39)	missense	probably benign	0.00
R7981:Aadacl2fm3	UTSW	3	59,784,360 (GRCm39)	missense	probably damaging	1.00
R8167:Aadacl2fm3	UTSW	3	59,784,632 (GRCm39)	missense	probably benign	0.03
R8941:Aadacl2fm3	UTSW	3	59,784,400 (GRCm39)	missense	probably damaging	1.00
R9547:Aadacl2fm3	UTSW	3	59,772,656 (GRCm39)	missense	probably benign	0.00
R9557:Aadacl2fm3	UTSW	3	59,784,654 (GRCm39)	missense	possibly damaging	0.81
R9675:Aadacl2fm3	UTSW	3	59,784,538 (GRCm39)	missense	probably damaging	1.00
X0011:Aadacl2fm3	UTSW	3	59,768,598 (GRCm39)	missense	probably benign
X0022:Aadacl2fm3	UTSW	3	59,784,445 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- tgccccacGCACTACCTACTAATC -3'
(R):5'- CTGCGGGAGAAAGTATGTCAAGGTC -3'

Sequencing Primer
(F):5'- ccacGCACTACCTACTAATCTTTTC -3'
(R):5'- GAAAGTATGTCAAGGTCAGTGTTCC -3'

Posted On

2014-03-14