Mutagenetix > Incidental Mutation

Incidental Mutation 'R7708:Aadacl2fm3'

594387

Institutional Source

Beutler Lab

Gene Symbol

Aadacl2fm3

Ensembl Gene

ENSMUSG00000095522

Gene Name

AADACL2 family member 3

Synonyms

Gm8298

MMRRC Submission

045709-MU

Accession Numbers

Essential gene?

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

Stock #

R7708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59768472-59784734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59772756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 87 (S87G)

Ref Sequence

ENSEMBL: ENSMUSP00000137307 (fasta)

Gene Model

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

AlphaFold

J3QPI0

Predicted Effect

probably benign
Transcript: ENSMUST00000179799
AA Change: S87G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137307
Gene: ENSMUSG00000095522
AA Change: S87G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	G	8: 41,133,558 (GRCm39)	H342R	probably damaging	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Asap1	T	C	15: 64,024,721 (GRCm39)	Y315C	probably damaging	Het
Atp10b	C	A	11: 43,092,970 (GRCm39)	T435K	probably damaging	Het
AW551984	A	T	9: 39,505,051 (GRCm39)	F480L	probably benign	Het
Bspry	G	T	4: 62,414,337 (GRCm39)	C310F	probably benign	Het
Camk2d	A	T	3: 126,391,089 (GRCm39)	M1L	probably benign	Het
Clock	T	A	5: 76,414,256 (GRCm39)	S19C	probably benign	Het
Cxxc1	G	T	18: 74,349,314 (GRCm39)		probably benign	Het
Efcab3	G	C	11: 104,855,397 (GRCm39)	D3816H	unknown	Het
Ercc6l2	T	A	13: 63,989,328 (GRCm39)	C176*	probably null	Het
Fkbp5	A	G	17: 28,657,071 (GRCm39)	F49L	probably benign	Het
Gm15130	T	A	2: 110,974,962 (GRCm39)	D67V		Het
Gpatch2	A	G	1: 186,964,963 (GRCm39)	I297V	probably benign	Het
Gpr135	T	G	12: 72,116,733 (GRCm39)	I345L	probably benign	Het
Gpr89	G	A	3: 96,787,941 (GRCm39)	T271I	possibly damaging	Het
Hip1r	T	A	5: 124,135,532 (GRCm39)	S503T	possibly damaging	Het
Hivep1	T	A	13: 42,317,753 (GRCm39)	C2076*	probably null	Het
Hoxa2	A	G	6: 52,141,542 (GRCm39)	V28A	probably damaging	Het
Inf2	T	C	12: 112,573,991 (GRCm39)	V765A	unknown	Het
Krt87	T	C	15: 101,385,813 (GRCm39)	M261V	probably benign	Het
Mtmr7	A	G	8: 41,043,554 (GRCm39)	Y166H	probably damaging	Het
Nuak2	T	C	1: 132,252,770 (GRCm39)	M108T	possibly damaging	Het
Or4f52	T	C	2: 111,061,863 (GRCm39)	I92V	probably damaging	Het
Or52e19	T	C	7: 102,959,768 (GRCm39)	L280P	probably damaging	Het
Or5p80	C	T	7: 108,230,048 (GRCm39)	P283L	probably damaging	Het
Or6k6	A	G	1: 173,945,300 (GRCm39)	M94T	probably damaging	Het
Or8b1c	A	T	9: 38,384,681 (GRCm39)	T213S	probably damaging	Het
Or8s16	A	T	15: 98,211,029 (GRCm39)	M134K	probably damaging	Het
Orm3	A	T	4: 63,276,050 (GRCm39)	E154V	probably damaging	Het
Pcdhga2	T	A	18: 37,804,496 (GRCm39)	I780N	possibly damaging	Het
Phf21a	T	C	2: 92,157,511 (GRCm39)		probably null	Het
Polh	G	T	17: 46,483,626 (GRCm39)	D546E	probably benign	Het
Ptprr	A	G	10: 115,998,502 (GRCm39)	D204G	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rpl7l1	A	G	17: 47,090,271 (GRCm39)	V121A	possibly damaging	Het
Rreb1	A	G	13: 38,113,546 (GRCm39)	T302A	probably benign	Het
Scn3a	C	T	2: 65,313,512 (GRCm39)	V1134I	possibly damaging	Het
Slc10a6	C	T	5: 103,777,128 (GRCm39)		probably benign	Het
Tmprss11f	C	T	5: 86,672,028 (GRCm39)	G388D	probably damaging	Het
Tnf	A	C	17: 35,419,134 (GRCm39)	V232G	possibly damaging	Het
Trappc13	C	T	13: 104,283,845 (GRCm39)	G302D	probably benign	Het
Trbj1-7	T	G	6: 41,512,617 (GRCm39)	Y14*	probably null	Het
Vmn1r217	T	C	13: 23,298,269 (GRCm39)	H211R	probably benign	Het
Vmn2r69	T	A	7: 85,061,755 (GRCm39)	H73L	possibly damaging	Het
Zfp827	T	C	8: 79,902,591 (GRCm39)	L835S	probably damaging	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
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
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'- TGGAAACCAAGGCTGTCTG -3'
(R):5'- TCAAGGTCAGTGTTCCATTTACTC -3'

Sequencing Primer
(F):5'- ACCAAGGCTGTCTGTGCGTAG -3'
(R):5'- ATAGGCGCCACCATGAAT -3'

Posted On

2019-11-12