Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01678:Aadacl4fm5'

103711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aadacl4fm5

Ensembl Gene

ENSMUSG00000078504

Gene Name

AADACL4 family member 5

Synonyms

Gm438, LOC329993

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

IGL01678

Quality Score

Status

Chromosome

Chromosomal Location

144503774-144513153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144504443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 236 (M236K)

Ref Sequence

ENSEMBL: ENSMUSP00000101372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105746]

AlphaFold

B1ASB3

Predicted Effect

probably benign
Transcript: ENSMUST00000105746
AA Change: M236K

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101372
Gene: ENSMUSG00000078504
AA Change: M236K

Domain	Start	End	E-Value	Type
transmembrane domain	3	25	N/A	INTRINSIC
Pfam:Abhydrolase_3	111	270	4.9e-22	PFAM
Pfam:Abhydrolase_3	284	366	1.3e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,222,883 (GRCm39)	M186K	probably null	Het
Adamts3	T	C	5: 89,855,715 (GRCm39)	N385S	probably damaging	Het
Adamts6	T	C	13: 104,450,196 (GRCm39)	V299A	probably damaging	Het
Angel1	T	C	12: 86,763,800 (GRCm39)	E500G	probably benign	Het
Car9	T	C	4: 43,512,941 (GRCm39)		probably benign	Het
Colec11	A	G	12: 28,644,867 (GRCm39)	F209S	probably damaging	Het
Dnaaf10	T	C	11: 17,182,790 (GRCm39)	V317A	probably benign	Het
Dock10	A	G	1: 80,521,069 (GRCm39)	Y1179H	probably damaging	Het
Ece1	T	A	4: 137,690,044 (GRCm39)	W697R	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Flii	G	T	11: 60,607,672 (GRCm39)		probably benign	Het
Frmpd1	T	A	4: 45,243,717 (GRCm39)	D63E	probably damaging	Het
Ftmt	A	T	18: 52,465,206 (GRCm39)	H174L	probably damaging	Het
Gpr37l1	A	G	1: 135,094,791 (GRCm39)	V151A	probably damaging	Het
Inppl1	T	C	7: 101,481,803 (GRCm39)	T180A	probably benign	Het
Klhdc4	T	C	8: 122,523,677 (GRCm39)	D513G	possibly damaging	Het
Klrb1a	A	G	6: 128,595,411 (GRCm39)		probably benign	Het
Nit1	A	G	1: 171,170,262 (GRCm39)	V270A	probably damaging	Het
Or6c5	A	C	10: 129,074,537 (GRCm39)	D173A	possibly damaging	Het
Phox2b	T	A	5: 67,256,262 (GRCm39)	Y8F	probably damaging	Het
Psg20	T	A	7: 18,414,795 (GRCm39)	S364C	probably damaging	Het
Rab38	T	A	7: 88,079,740 (GRCm39)	V44E	probably damaging	Het
Rapgef4	T	C	2: 72,072,569 (GRCm39)		probably benign	Het
Ror1	C	T	4: 100,283,165 (GRCm39)	P410L	possibly damaging	Het
Rptn	A	G	3: 93,304,118 (GRCm39)	N484D	probably benign	Het
Sirpb1a	G	T	3: 15,476,370 (GRCm39)	S142R	probably damaging	Het
Smox	G	A	2: 131,353,979 (GRCm39)	R17H	possibly damaging	Het
Top6bl	T	A	19: 4,722,193 (GRCm39)	I76L	possibly damaging	Het
Trpm7	A	T	2: 126,658,719 (GRCm39)	C1146S	probably damaging	Het
Upf3a	C	T	8: 13,841,930 (GRCm39)	A155V	probably benign	Het
Vmn1r212	A	T	13: 23,068,081 (GRCm39)	V84D	probably damaging	Het
Vmn2r40	T	C	7: 8,923,105 (GRCm39)	N419D	probably damaging	Het
Zfp143	C	A	7: 109,679,558 (GRCm39)		probably benign	Het
Zmat4	T	A	8: 24,392,064 (GRCm39)	C7S	probably damaging	Het

Other mutations in Aadacl4fm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Aadacl4fm5	APN	4	144,504,259 (GRCm39)	nonsense	probably null
IGL01293:Aadacl4fm5	APN	4	144,504,159 (GRCm39)	missense	probably benign	0.00
IGL02609:Aadacl4fm5	APN	4	144,506,307 (GRCm39)	missense	probably damaging	1.00
IGL02684:Aadacl4fm5	APN	4	144,504,755 (GRCm39)	splice site	probably benign
IGL02734:Aadacl4fm5	APN	4	144,506,349 (GRCm39)	missense	probably damaging	1.00
IGL02869:Aadacl4fm5	APN	4	144,512,938 (GRCm39)	missense	probably benign	0.01
IGL02988:Aadacl4fm5	APN	4	144,513,100 (GRCm39)	utr 5 prime	probably benign
R0553:Aadacl4fm5	UTSW	4	144,503,985 (GRCm39)	missense	possibly damaging	0.57
R1514:Aadacl4fm5	UTSW	4	144,504,329 (GRCm39)	missense	probably damaging	1.00
R1856:Aadacl4fm5	UTSW	4	144,504,453 (GRCm39)	missense	probably benign
R1957:Aadacl4fm5	UTSW	4	144,504,389 (GRCm39)	missense	possibly damaging	0.94
R2014:Aadacl4fm5	UTSW	4	144,506,295 (GRCm39)	missense	probably damaging	1.00
R2243:Aadacl4fm5	UTSW	4	144,503,991 (GRCm39)	missense	probably benign
R4943:Aadacl4fm5	UTSW	4	144,504,290 (GRCm39)	missense	probably benign	0.07
R5439:Aadacl4fm5	UTSW	4	144,504,683 (GRCm39)	missense	probably damaging	1.00
R5520:Aadacl4fm5	UTSW	4	144,504,594 (GRCm39)	missense	probably benign	0.00
R6414:Aadacl4fm5	UTSW	4	144,503,985 (GRCm39)	missense	possibly damaging	0.57
R6664:Aadacl4fm5	UTSW	4	144,503,969 (GRCm39)	makesense	probably null
R6869:Aadacl4fm5	UTSW	4	144,507,042 (GRCm39)	critical splice donor site	probably null
R7384:Aadacl4fm5	UTSW	4	144,507,191 (GRCm39)	missense	possibly damaging	0.89
R7439:Aadacl4fm5	UTSW	4	144,504,332 (GRCm39)	missense	probably damaging	1.00
R7484:Aadacl4fm5	UTSW	4	144,504,521 (GRCm39)	missense	probably damaging	0.97
R9284:Aadacl4fm5	UTSW	4	144,504,191 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21