Mutagenetix > Incidental Mutation

Incidental Mutation 'R0920:Aadacl4fm2'

82811

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4fm2

Ensembl Gene

ENSMUSG00000078506

Gene Name

AADACL4 family member 2

Synonyms

Gm13124

MMRRC Submission

039070-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144281570-144291704 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 144287696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105748]

AlphaFold

A2A752

Predicted Effect

probably benign
Transcript: ENSMUST00000105748

SMART Domains

Protein: ENSMUSP00000101374
Gene: ENSMUSG00000078506

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Abhydrolase_5	113	292	1.7e-8	PFAM
Pfam:Abhydrolase_3	114	284	2.5e-33	PFAM
Pfam:Abhydrolase_3	306	380	2.6e-11	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	G	13: 70,911,680 (GRCm39)		probably benign	Het
Adgra3	A	G	5: 50,118,503 (GRCm39)	V1015A	probably benign	Het
Armc5	G	T	7: 127,839,491 (GRCm39)	A270S	probably damaging	Het
Cacng1	A	C	11: 107,596,682 (GRCm39)		probably benign	Het
Ccdc33	T	C	9: 57,940,955 (GRCm39)	D429G	probably damaging	Het
Ccdc88b	G	T	19: 6,824,017 (GRCm39)	A1412E	probably benign	Het
Cfap298	C	T	16: 90,724,267 (GRCm39)	E125K	probably damaging	Het
Clock	A	T	5: 76,378,167 (GRCm39)	S578T	possibly damaging	Het
Crp	T	C	1: 172,526,089 (GRCm39)	F58S	probably damaging	Het
Dlg5	T	A	14: 24,226,465 (GRCm39)	Q125L	probably damaging	Het
Eif3i	T	C	4: 129,489,050 (GRCm39)		probably benign	Het
Gucy1a2	A	C	9: 3,759,472 (GRCm39)	D426A	probably damaging	Het
Hpcal1	C	T	12: 17,841,098 (GRCm39)		probably benign	Het
Inf2	T	A	12: 112,576,721 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,128,256 (GRCm39)	L525P	probably damaging	Het
Kirrel3	A	T	9: 34,939,648 (GRCm39)	I152F	probably damaging	Het
Knl1	T	A	2: 118,900,309 (GRCm39)	I670K	probably benign	Het
Krt76	T	C	15: 101,800,874 (GRCm39)	T141A	possibly damaging	Het
Ldb3	T	C	14: 34,289,460 (GRCm39)	T249A	probably benign	Het
Magi3	A	T	3: 103,941,507 (GRCm39)		probably null	Het
Mfn1	A	G	3: 32,588,385 (GRCm39)		probably null	Het
Myb	G	T	10: 21,002,133 (GRCm39)	T736K	possibly damaging	Het
Myo5b	A	C	18: 74,758,712 (GRCm39)	K231T	probably benign	Het
Myt1l	T	A	12: 29,936,138 (GRCm39)	C909S	unknown	Het
Npas4	C	A	19: 5,036,344 (GRCm39)	E607*	probably null	Het
Nphp3	A	G	9: 103,909,106 (GRCm39)	N772S	probably benign	Het
Nup88	G	T	11: 70,847,146 (GRCm39)	P288Q	possibly damaging	Het
Or2l13	A	T	16: 19,305,680 (GRCm39)	I31F	probably benign	Het
Pknox1	C	A	17: 31,815,865 (GRCm39)	Q240K	probably damaging	Het
Plce1	A	C	19: 38,724,965 (GRCm39)	T1439P	probably damaging	Het
Ppp1r42	T	A	1: 10,069,750 (GRCm39)	N104I	probably damaging	Het
Prkar2a	T	A	9: 108,596,496 (GRCm39)		probably benign	Het
Stox2	C	T	8: 47,646,053 (GRCm39)	R469Q	probably damaging	Het
Syna	A	G	5: 134,587,956 (GRCm39)	V331A	probably benign	Het
Vmn1r58	A	T	7: 5,413,788 (GRCm39)	N147K	probably benign	Het
Zdhhc6	A	T	19: 55,300,133 (GRCm39)	L148H	probably damaging	Het

Other mutations in Aadacl4fm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Aadacl4fm2	APN	4	144,281,843 (GRCm39)	missense	probably benign	0.13
IGL02876:Aadacl4fm2	APN	4	144,282,343 (GRCm39)	missense	probably damaging	1.00
PIT4514001:Aadacl4fm2	UTSW	4	144,282,081 (GRCm39)	missense	probably damaging	0.98
R0089:Aadacl4fm2	UTSW	4	144,282,303 (GRCm39)	missense	probably benign
R0325:Aadacl4fm2	UTSW	4	144,282,081 (GRCm39)	missense	probably damaging	0.98
R1301:Aadacl4fm2	UTSW	4	144,291,635 (GRCm39)	missense	probably benign	0.00
R1711:Aadacl4fm2	UTSW	4	144,281,976 (GRCm39)	missense	probably damaging	0.98
R4328:Aadacl4fm2	UTSW	4	144,282,164 (GRCm39)	missense	possibly damaging	0.69
R4382:Aadacl4fm2	UTSW	4	144,281,596 (GRCm39)	missense	possibly damaging	0.71
R4655:Aadacl4fm2	UTSW	4	144,281,645 (GRCm39)	missense	probably benign	0.24
R5194:Aadacl4fm2	UTSW	4	144,281,652 (GRCm39)	missense	probably benign	0.00
R6301:Aadacl4fm2	UTSW	4	144,285,224 (GRCm39)	missense	probably damaging	0.99
R6508:Aadacl4fm2	UTSW	4	144,291,590 (GRCm39)	nonsense	probably null
R7206:Aadacl4fm2	UTSW	4	144,285,211 (GRCm39)	missense	probably damaging	1.00
R7429:Aadacl4fm2	UTSW	4	144,291,626 (GRCm39)	missense	probably benign
R7520:Aadacl4fm2	UTSW	4	144,281,859 (GRCm39)	missense	probably damaging	1.00
R7525:Aadacl4fm2	UTSW	4	144,291,580 (GRCm39)	missense	probably damaging	0.98
R8709:Aadacl4fm2	UTSW	4	144,281,863 (GRCm39)	missense	probably damaging	1.00
R9525:Aadacl4fm2	UTSW	4	144,282,000 (GRCm39)	missense	possibly damaging	0.92
R9529:Aadacl4fm2	UTSW	4	144,282,082 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGATGAGCCAGTGGCTTTGAGAATG -3'
(R):5'- GATGAAAATTTGCCCCATGCCCC -3'

Sequencing Primer
(F):5'- CCAGTGGCTTTGAGAATGAATGG -3'
(R):5'- CGCTTTTTCTGCTTTATACAAGAC -3'

Posted On

2013-11-08