Mutagenetix > Incidental Mutation

Incidental Mutation 'R1222:Aadacl2fm3'

152741

Institutional Source

Beutler Lab

Gene Symbol

Aadacl2fm3

Ensembl Gene

ENSMUSG00000095522

Gene Name

AADACL2 family member 3

Synonyms

Gm8298

MMRRC Submission

039291-MU

Accession Numbers

Essential gene?

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

Stock #

R1222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59768472-59784734 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 59784682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 385 (L385*)

Ref Sequence

ENSEMBL: ENSMUSP00000137307 (fasta)

Gene Model

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

AlphaFold

J3QPI0

Predicted Effect

probably null
Transcript: ENSMUST00000179799
AA Change: L385*

SMART Domains

Protein: ENSMUSP00000137307
Gene: ENSMUSG00000095522
AA Change: L385*

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,035,890 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,691,006 (GRCm39)	S842P	probably benign	Het
Agrn	C	A	4: 156,261,842 (GRCm39)	V483L	probably damaging	Het
Ankrd13a	T	A	5: 114,938,824 (GRCm39)	C365*	probably null	Het
Ap2b1	T	C	11: 83,237,564 (GRCm39)	S543P	probably benign	Het
Atic	C	T	1: 71,598,438 (GRCm39)	T67I	probably damaging	Het
Bhmt1b	A	G	18: 87,775,458 (GRCm39)	K327R	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cux1	C	T	5: 136,304,003 (GRCm39)	R1391Q	probably benign	Het
Cyp2a4	T	C	7: 26,008,013 (GRCm39)	V140A	possibly damaging	Het
Dlgap3	A	T	4: 127,088,406 (GRCm39)	M1L	probably null	Het
Dnah3	T	C	7: 119,689,899 (GRCm39)	D2G	probably benign	Het
Erbb3	A	C	10: 128,407,534 (GRCm39)	V938G	probably damaging	Het
Fam13a	C	T	6: 58,912,707 (GRCm39)		probably benign	Het
Gata2	G	A	6: 88,177,323 (GRCm39)	V118I	probably benign	Het
Gm2663	T	C	6: 40,972,975 (GRCm39)	I211V	probably benign	Het
Izumo3	T	A	4: 92,033,284 (GRCm39)	N104I	probably damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Mctp2	T	A	7: 71,908,887 (GRCm39)	H142L	probably benign	Het
Mmp10	T	C	9: 7,505,682 (GRCm39)		probably benign	Het
Mroh8	G	A	2: 157,083,774 (GRCm39)		probably benign	Het
Mylk	T	C	16: 34,681,022 (GRCm39)	V94A	probably benign	Het
Nol6	A	T	4: 41,120,760 (GRCm39)	N396K	probably benign	Het
Nr4a2	A	T	2: 56,998,336 (GRCm39)	N543K	probably damaging	Het
Nynrin	T	C	14: 56,100,998 (GRCm39)	S263P	probably benign	Het
Or10ag53	G	T	2: 87,082,766 (GRCm39)	G162C	probably benign	Het
Or1e35	A	T	11: 73,798,240 (GRCm39)	L26H	probably damaging	Het
Or5p68	T	A	7: 107,945,313 (GRCm39)	I292F	probably damaging	Het
Or7d10	G	A	9: 19,832,344 (GRCm39)	V280I	possibly damaging	Het
Pkhd1	T	A	1: 20,637,680 (GRCm39)	R368S	probably benign	Het
Plekhg4	G	A	8: 106,105,742 (GRCm39)	A736T	probably benign	Het
Plxna2	A	G	1: 194,482,957 (GRCm39)	D1550G	probably damaging	Het
Qrfpr	C	A	3: 36,234,244 (GRCm39)	G366W	probably damaging	Het
Qser1	C	A	2: 104,607,776 (GRCm39)	A1471S	probably damaging	Het
Rars1	A	T	11: 35,700,567 (GRCm39)	Y505N	probably damaging	Het
Reln	T	A	5: 22,191,953 (GRCm39)	T1496S	probably null	Het
Rrs1	T	C	1: 9,616,080 (GRCm39)	L111P	probably benign	Het
Selplg	C	T	5: 113,957,434 (GRCm39)	V291M	possibly damaging	Het
Serpinb1c	T	A	13: 33,080,934 (GRCm39)	T50S	possibly damaging	Het
Slc4a5	A	G	6: 83,257,114 (GRCm39)	K640E	probably damaging	Het
Szt2	A	T	4: 118,262,656 (GRCm39)	H40Q	possibly damaging	Het
Taar4	C	T	10: 23,837,230 (GRCm39)	T280I	probably benign	Het
Tdo2	A	G	3: 81,868,775 (GRCm39)		probably null	Het
Tpp1	T	C	7: 105,395,948 (GRCm39)	N527S	probably benign	Het
Trim43c	A	T	9: 88,725,131 (GRCm39)	T218S	possibly damaging	Het
Trim45	G	T	3: 100,834,614 (GRCm39)	M432I	probably benign	Het
Ubr4	T	C	4: 139,115,782 (GRCm39)		probably null	Het
Vat1l	T	C	8: 115,009,101 (GRCm39)		probably benign	Het
Xpo7	A	T	14: 70,904,524 (GRCm39)	H1037Q	possibly damaging	Het
Zmiz1	T	C	14: 25,658,520 (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
R1436:Aadacl2fm3	UTSW	3	59,772,760 (GRCm39)	missense	probably damaging	0.98
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'- GGACTTGTGGATAGTAGGGCATCACC -3'
(R):5'- CGCAGTTTTGTCAGCATTGAAAATTAGC -3'

Sequencing Primer
(F):5'- GTTAGTCAACGATTCCCAGTTACAG -3'
(R):5'- GTCCTAACACACCCAATTAAGTTATG -3'

Posted On

2014-01-29