Mutagenetix > Incidental Mutation

Incidental Mutation 'R0553:Aadacl4fm5'

45276

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4fm5

Ensembl Gene

ENSMUSG00000078504

Gene Name

AADACL4 family member 5

Synonyms

Gm438, LOC329993

MMRRC Submission

038745-MU

Accession Numbers

Essential gene?

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

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144503774-144513153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144503985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 389 (I389L)

Ref Sequence

ENSEMBL: ENSMUSP00000101372 (fasta)

Gene Model

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

AlphaFold

B1ASB3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105746
AA Change: I389L

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101372
Gene: ENSMUSG00000078504
AA Change: I389L

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

Meta Mutation Damage Score

0.1697

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,596,128 (GRCm39)	M120L	unknown	Het
Adamts13	T	A	2: 26,881,346 (GRCm39)	C774*	probably null	Het
Amh	A	G	10: 80,642,010 (GRCm39)		probably benign	Het
Armh4	T	C	14: 49,920,143 (GRCm39)	I729V	probably damaging	Het
Cd40	G	A	2: 164,912,661 (GRCm39)	R204Q	probably benign	Het
Cfap210	C	A	2: 69,619,785 (GRCm39)	R8L	probably damaging	Het
Clhc1	A	C	11: 29,511,366 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Flg2	A	T	3: 93,110,891 (GRCm39)	H973L	unknown	Het
Fut2	T	A	7: 45,300,698 (GRCm39)	I25F	probably damaging	Het
Galnt7	T	C	8: 58,005,464 (GRCm39)		probably benign	Het
Gmppb	A	T	9: 107,926,996 (GRCm39)	M56L	probably benign	Het
Grm3	C	A	5: 9,620,048 (GRCm39)	A399S	probably benign	Het
H2-T5	G	T	17: 36,478,949 (GRCm39)	P100Q	probably damaging	Het
Hey2	G	A	10: 30,716,485 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,433,186 (GRCm39)		probably benign	Het
Kcnh5	C	A	12: 75,184,447 (GRCm39)	C92F	probably benign	Het
Kdm1a	T	C	4: 136,282,609 (GRCm39)	D229G	probably damaging	Het
Klf11	C	G	12: 24,705,089 (GRCm39)	P164R	probably benign	Het
Klhl41	G	A	2: 69,500,554 (GRCm39)	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,409,147 (GRCm39)	V6A	probably benign	Het
Ltbr	A	C	6: 125,290,351 (GRCm39)		probably null	Het
Mmp17	T	G	5: 129,675,734 (GRCm39)	S298A	probably benign	Het
Nacc2	T	A	2: 25,979,602 (GRCm39)	E278V	possibly damaging	Het
Or5k8	A	T	16: 58,644,518 (GRCm39)	Y185N	probably damaging	Het
Or8b12b	T	A	9: 37,684,627 (GRCm39)	I224N	probably benign	Het
Otop2	C	T	11: 115,220,288 (GRCm39)	A376V	probably damaging	Het
Pdia2	T	C	17: 26,415,217 (GRCm39)	E504G	probably damaging	Het
Pdzph1	C	T	17: 59,229,722 (GRCm39)	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,820,374 (GRCm39)	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,546,488 (GRCm39)	F269L	probably benign	Het
Rb1	A	T	14: 73,449,152 (GRCm39)	C659*	probably null	Het
Rnf8	T	C	17: 29,840,613 (GRCm39)		probably null	Het
Rras	T	G	7: 44,669,980 (GRCm39)	I137M	probably benign	Het
Slc38a9	A	T	13: 112,850,732 (GRCm39)	H372L	probably damaging	Het
Spata9	T	C	13: 76,125,898 (GRCm39)		probably null	Het
Tas2r115	T	C	6: 132,714,922 (GRCm39)	T10A	probably benign	Het
Ttn	T	C	2: 76,629,237 (GRCm39)	E12621G	probably damaging	Het
Unc80	A	T	1: 66,545,828 (GRCm39)	I460F	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,327,993 (GRCm39)	A293V	possibly damaging	Het
Zpld2	T	C	4: 133,929,829 (GRCm39)	T159A	possibly 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
IGL01678:Aadacl4fm5	APN	4	144,504,443 (GRCm39)	missense	probably benign	0.20
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTCTCTGCTTCCACATCTAATTCCAACAT -3'
(R):5'- TCTGCACTTCATCAATTTTCAGTTACCATCAT -3'

Sequencing Primer
(F):5'- AACATGCGTCATGGATGTCTTC -3'
(R):5'- TGGACAGATGCCATGTCTAC -3'

Posted On

2013-06-11