Mutagenetix > Incidental Mutation

Incidental Mutation 'R3055:Aadacl4fm4'

265114

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4fm4

Ensembl Gene

ENSMUSG00000078505

Gene Name

AADACL4 family member 4

Synonyms

Gm436, LOC230890

MMRRC Submission

040564-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R3055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144669937-144686368 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144674698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 72 (I72T)

Ref Sequence

ENSEMBL: ENSMUSP00000101373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105747]

AlphaFold

B1AVU6

Predicted Effect

probably benign
Transcript: ENSMUST00000105747
AA Change: I72T

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101373
Gene: ENSMUSG00000078505
AA Change: I72T

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Abhydrolase_3	115	285	1.6e-29	PFAM
Pfam:Abhydrolase_3	292	381	9e-12	PFAM

Meta Mutation Damage Score

0.1241

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	A	G	14: 4,348,878 (GRCm38)	E13G	probably damaging	Het
5730596B20Rik	A	T	6: 52,179,128 (GRCm38)		probably benign	Het
Abca16	A	G	7: 120,435,851 (GRCm38)	M287V	probably benign	Het
Abca7	G	A	10: 79,999,747 (GRCm38)	R283H	probably damaging	Het
Acad11	A	G	9: 104,076,336 (GRCm38)	I126V	probably damaging	Het
Ahrr	A	G	13: 74,224,887 (GRCm38)	V148A	probably damaging	Het
Aldh1l2	T	C	10: 83,502,472 (GRCm38)	K528E	probably benign	Het
Atp6v0a2	T	A	5: 124,627,144 (GRCm38)		probably benign	Het
Atxn10	A	G	15: 85,387,005 (GRCm38)	D248G	probably benign	Het
Bard1	A	G	1: 71,088,231 (GRCm38)	V73A	possibly damaging	Het
Catsper3	T	C	13: 55,808,896 (GRCm38)	S376P	unknown	Het
Ccdc150	A	G	1: 54,288,842 (GRCm38)	N361S	possibly damaging	Het
Cxcr6	A	T	9: 123,810,464 (GRCm38)	I177F	probably damaging	Het
Ddx25	A	G	9: 35,551,351 (GRCm38)	V246A	probably damaging	Het
Drd4	T	C	7: 141,294,479 (GRCm38)	V319A	probably damaging	Het
Dscam	G	A	16: 96,801,355 (GRCm38)	T629I	probably damaging	Het
Evi5l	C	T	8: 4,191,603 (GRCm38)	R311*	probably null	Het
Fxr1	A	G	3: 34,049,184 (GRCm38)	E221G	probably damaging	Het
Gldn	A	T	9: 54,338,523 (GRCm38)	T453S	probably damaging	Het
Ighm	T	A	12: 113,418,976 (GRCm38)		probably benign	Het
Ints12	G	A	3: 133,109,365 (GRCm38)	M444I	possibly damaging	Het
Lgr5	T	A	10: 115,466,123 (GRCm38)		probably benign	Het
Mier3	T	A	13: 111,691,303 (GRCm38)	D7E	probably damaging	Het
Mms19	A	T	19: 41,950,088 (GRCm38)		probably benign	Het
Mrpl20	G	T	4: 155,803,872 (GRCm38)	V43F	possibly damaging	Het
Muc5b	G	T	7: 141,864,041 (GRCm38)	V3575F	probably damaging	Het
Naip5	T	C	13: 100,221,878 (GRCm38)	Y950C	probably benign	Het
Or4d2	A	G	11: 87,893,372 (GRCm38)	V184A	possibly damaging	Het
Or5t9	T	C	2: 86,829,127 (GRCm38)	F125S	possibly damaging	Het
Or8b12b	G	T	9: 37,773,193 (GRCm38)	C178F	probably damaging	Het
Pkd1l2	T	A	8: 117,068,315 (GRCm38)		probably null	Het
Prune2	A	G	19: 17,125,043 (GRCm38)	E2522G	probably damaging	Het
Radil	T	C	5: 142,495,406 (GRCm38)	T549A	possibly damaging	Het
Radx	T	A	X: 139,511,557 (GRCm38)	V439E	possibly damaging	Het
Rasa2	G	A	9: 96,611,473 (GRCm38)	L53F	possibly damaging	Het
Rasgrf2	A	G	13: 92,029,075 (GRCm38)	F306L	probably damaging	Het
Rbm19	C	T	5: 120,133,010 (GRCm38)	R633C	probably damaging	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,873,717 (GRCm38)		probably benign	Het
Slc4a4	T	C	5: 89,225,948 (GRCm38)	V971A	probably damaging	Het
Slc4a4	T	A	5: 89,132,507 (GRCm38)	L353H	probably damaging	Het
Stil	T	A	4: 115,014,069 (GRCm38)		probably benign	Het
Tjp3	T	C	10: 81,280,507 (GRCm38)	K251R	probably benign	Het
Ugt2b35	A	T	5: 87,001,598 (GRCm38)	Y236F	probably benign	Het
Utp14b	T	A	1: 78,664,725 (GRCm38)	D113E	possibly damaging	Het
Vmn1r121	G	A	7: 21,098,465 (GRCm38)	Q17*	probably null	Het
Vmn2r28	A	T	7: 5,481,392 (GRCm38)	L603Q	probably damaging	Het
Vps13b	A	G	15: 35,646,361 (GRCm38)	E1537G	probably damaging	Het
Xrcc4	T	C	13: 90,062,077 (GRCm38)	T83A	probably benign	Het
Yae1d1	T	C	13: 17,993,242 (GRCm38)	E22G	probably damaging	Het

Other mutations in Aadacl4fm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Aadacl4fm4	APN	4	144,673,779 (GRCm38)	missense	probably benign	0.12
IGL01369:Aadacl4fm4	APN	4	144,674,645 (GRCm38)	missense	possibly damaging	0.50
IGL01503:Aadacl4fm4	APN	4	144,674,567 (GRCm38)	missense	probably damaging	0.99
IGL01505:Aadacl4fm4	APN	4	144,674,618 (GRCm38)	missense	probably damaging	1.00
IGL01954:Aadacl4fm4	APN	4	144,670,171 (GRCm38)	missense	probably damaging	1.00
IGL02447:Aadacl4fm4	APN	4	144,674,699 (GRCm38)	missense	probably benign	0.02
IGL02804:Aadacl4fm4	APN	4	144,670,439 (GRCm38)	missense	possibly damaging	0.95
R0373:Aadacl4fm4	UTSW	4	144,686,220 (GRCm38)	missense	possibly damaging	0.54
R1124:Aadacl4fm4	UTSW	4	144,670,275 (GRCm38)	missense	probably benign	0.00
R1598:Aadacl4fm4	UTSW	4	144,670,424 (GRCm38)	missense	possibly damaging	0.60
R1734:Aadacl4fm4	UTSW	4	144,670,026 (GRCm38)	missense	probably benign	0.04
R1763:Aadacl4fm4	UTSW	4	144,669,959 (GRCm38)	missense	probably benign	0.24
R1968:Aadacl4fm4	UTSW	4	144,670,623 (GRCm38)	missense	possibly damaging	0.83
R3056:Aadacl4fm4	UTSW	4	144,674,698 (GRCm38)	missense	probably benign	0.16
R3930:Aadacl4fm4	UTSW	4	144,670,128 (GRCm38)	missense	probably damaging	1.00
R5124:Aadacl4fm4	UTSW	4	144,674,719 (GRCm38)	missense	probably damaging	1.00
R5407:Aadacl4fm4	UTSW	4	144,670,325 (GRCm38)	missense	probably benign	0.01
R6302:Aadacl4fm4	UTSW	4	144,670,190 (GRCm38)	nonsense	probably null
R6814:Aadacl4fm4	UTSW	4	144,670,646 (GRCm38)	nonsense	probably null
R6872:Aadacl4fm4	UTSW	4	144,670,646 (GRCm38)	nonsense	probably null
R6988:Aadacl4fm4	UTSW	4	144,686,325 (GRCm38)	missense	probably benign	0.01
R7131:Aadacl4fm4	UTSW	4	144,670,067 (GRCm38)	missense	probably damaging	0.98
R7895:Aadacl4fm4	UTSW	4	144,670,343 (GRCm38)	missense	possibly damaging	0.95
R8108:Aadacl4fm4	UTSW	4	144,670,669 (GRCm38)	missense	probably benign	0.04
R8378:Aadacl4fm4	UTSW	4	144,670,599 (GRCm38)	missense	probably benign	0.24
R8676:Aadacl4fm4	UTSW	4	144,670,113 (GRCm38)	missense	possibly damaging	0.94
R8817:Aadacl4fm4	UTSW	4	144,673,791 (GRCm38)	missense	probably benign	0.00
R9328:Aadacl4fm4	UTSW	4	144,674,686 (GRCm38)	missense	probably benign	0.02
R9640:Aadacl4fm4	UTSW	4	144,686,239 (GRCm38)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CAGGCTACCAAAAGCTGCAG -3'
(R):5'- AGAAGAAAAGTATGAACTGCCTTCC -3'

Sequencing Primer
(F):5'- GCCCCTCCATGGTAGAAGATGATG -3'
(R):5'- TATGCCCATGAGATCAGTGC -3'

Posted On

2015-02-05