Mutagenetix > Incidental Mutation

Incidental Mutation 'R2243:Aadacl4fm5'

240718

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4fm5

Ensembl Gene

ENSMUSG00000078504

Gene Name

AADACL4 family member 5

Synonyms

Gm438, LOC329993

MMRRC Submission

040243-MU

Accession Numbers

Essential gene?

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

Stock #

R2243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144503774-144513153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144503991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 387 (R387C)

Ref Sequence

ENSEMBL: ENSMUSP00000101372 (fasta)

Gene Model

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

AlphaFold

B1ASB3

Predicted Effect

probably benign
Transcript: ENSMUST00000105746
AA Change: R387C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101372
Gene: ENSMUSG00000078504
AA Change: R387C

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	T	7: 76,068,470 (GRCm39)	E93D	possibly damaging	Het
Akap10	C	A	11: 61,806,327 (GRCm39)	V134F	possibly damaging	Het
Bnc1	T	C	7: 81,623,821 (GRCm39)	I469V	possibly damaging	Het
Bod1l	T	A	5: 41,978,888 (GRCm39)	I809L	possibly damaging	Het
Dicer1	T	A	12: 104,696,447 (GRCm39)	E118V	probably damaging	Het
Dmbt1	T	C	7: 130,648,292 (GRCm39)	F274S	probably benign	Het
Dnaaf2	T	G	12: 69,243,418 (GRCm39)	T548P	possibly damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Fchsd2	A	G	7: 100,883,092 (GRCm39)	N240S	probably benign	Het
Foxb1	T	C	9: 69,667,146 (GRCm39)	Y128C	probably damaging	Het
Fxr2	A	T	11: 69,532,896 (GRCm39)	K158M	possibly damaging	Het
Golga4	C	A	9: 118,385,972 (GRCm39)	D1031E	probably benign	Het
Hbb-bs	T	C	7: 103,477,018 (GRCm39)	D22G	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hnrnpul2	T	A	19: 8,798,001 (GRCm39)	M119K	probably benign	Het
Kif18a	C	A	2: 109,128,452 (GRCm39)	H369Q	probably damaging	Het
Klhdc10	A	G	6: 30,449,558 (GRCm39)	T207A	probably damaging	Het
Lig4	A	G	8: 10,022,161 (GRCm39)	C540R	possibly damaging	Het
Lilrb4b	A	T	10: 51,357,704 (GRCm39)	N133Y	possibly damaging	Het
Lrrc31	T	A	3: 30,739,179 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myof	C	T	19: 37,889,767 (GRCm39)	R2009H	probably damaging	Het
Nlrp2	C	T	7: 5,338,597 (GRCm39)	V99I	probably benign	Het
Or2w3b	G	A	11: 58,623,271 (GRCm39)	T240M	probably damaging	Het
Pcnx1	T	C	12: 81,965,479 (GRCm39)	S549P	probably damaging	Het
Pkhd1l1	T	C	15: 44,410,323 (GRCm39)	F2610S	probably damaging	Het
S100a14	A	G	3: 90,435,114 (GRCm39)	T42A	possibly damaging	Het
Serpina6	T	A	12: 103,613,187 (GRCm39)	Y371F	probably benign	Het
Slc43a3	T	C	2: 84,778,782 (GRCm39)		probably benign	Het
Taldo1	C	A	7: 140,972,217 (GRCm39)	T28K	probably damaging	Het
Tatdn3	T	C	1: 190,785,097 (GRCm39)	Y184C	probably damaging	Het
Tep1	G	C	14: 51,091,667 (GRCm39)	R625G	probably benign	Het
Timm44	A	T	8: 4,317,871 (GRCm39)	I179N	possibly damaging	Het
Uimc1	A	T	13: 55,198,552 (GRCm39)		probably null	Het
Vmn1r68	A	T	7: 10,262,089 (GRCm39)	V3E	probably damaging	Het
Zer1	A	T	2: 29,991,139 (GRCm39)	F683L	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
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
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
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'- TGACTTATTGAGCAGAGTTCTCTG -3'
(R):5'- CCTCTCCTAGCAGATGACAAGATC -3'

Sequencing Primer
(F):5'- GCTTCCACATCTAATTCCAACATG -3'
(R):5'- AGCTTCCTAAGACATTCCTGGTGAG -3'

Posted On

2014-10-15