Mutagenetix > Incidental Mutation

Incidental Mutation 'R0023:Aadacl4fm1'

15195

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4fm1

Ensembl Gene

ENSMUSG00000028593

Gene Name

AADACL4 family member 1

Synonyms

9430007A20Rik, LOC381572

MMRRC Submission

038318-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0023 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

144246392-144255923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 144255567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 329 (D329A)

Ref Sequence

ENSEMBL: ENSMUSP00000030328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030328]

AlphaFold

Q8BM81

Predicted Effect

probably damaging
Transcript: ENSMUST00000030328
AA Change: D329A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030328
Gene: ENSMUSG00000028593
AA Change: D329A

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Abhydrolase_3	115	286	6.2e-32	PFAM
Pfam:Abhydrolase_3	273	381	7.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120637

Meta Mutation Damage Score

0.2757

Coding Region Coverage

1x: 78.2%
3x: 67.5%
10x: 40.9%
20x: 21.9%

Validation Efficiency

89% (77/87)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,264,962 (GRCm39)	H661L	probably damaging	Het
Acsbg2	C	G	17: 57,154,710 (GRCm39)	A481P	probably damaging	Het
Aknad1	T	A	3: 108,688,501 (GRCm39)	C610S	probably benign	Het
Anapc1	T	A	2: 128,520,138 (GRCm39)	K226N	probably damaging	Het
Aqp11	A	T	7: 97,375,896 (GRCm39)	I251N	possibly damaging	Het
Arid1a	G	T	4: 133,418,487 (GRCm39)	T1032K	unknown	Het
Atg16l1	T	C	1: 87,717,187 (GRCm39)	V538A	probably benign	Het
Atp7b	A	T	8: 22,501,089 (GRCm39)	L938Q	probably damaging	Het
Bbs1	C	T	19: 4,956,042 (GRCm39)	A44T	probably damaging	Het
Btbd9	A	T	17: 30,749,188 (GRCm39)	V42E	probably damaging	Het
Carmil3	C	G	14: 55,730,333 (GRCm39)	S15R	probably damaging	Het
Cfap44	T	A	16: 44,241,583 (GRCm39)	F651L	probably benign	Het
Clcn3	A	T	8: 61,386,104 (GRCm39)		probably benign	Het
Copb1	A	T	7: 113,849,329 (GRCm39)	D91E	probably benign	Het
Ctr9	G	A	7: 110,643,154 (GRCm39)	A509T	possibly damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Emc1	A	G	4: 139,098,320 (GRCm39)	D767G	probably damaging	Het
Fads1	G	A	19: 10,164,261 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,852,837 (GRCm39)	K1375E	probably benign	Het
Frrs1	T	C	3: 116,690,437 (GRCm39)	F27L	probably damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Lrig3	A	C	10: 125,846,088 (GRCm39)	D839A	probably damaging	Het
Macf1	A	T	4: 123,382,107 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,816 (GRCm39)	V789A	possibly damaging	Het
Nasp	A	G	4: 116,462,968 (GRCm39)		probably benign	Het
Nsmaf	A	G	4: 6,408,680 (GRCm39)	Y700H	probably damaging	Het
Plekhs1	T	G	19: 56,466,948 (GRCm39)	S260A	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
R3hdm1	T	C	1: 128,138,929 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,785,315 (GRCm39)		probably benign	Het
Suco	A	T	1: 161,673,154 (GRCm39)		probably null	Het
Synrg	G	T	11: 83,899,479 (GRCm39)	D562Y	probably damaging	Het
Tfip11	T	C	5: 112,479,875 (GRCm39)	S265P	possibly damaging	Het
Ucp3	G	T	7: 100,134,250 (GRCm39)	V288L	probably benign	Het
Xylt1	G	T	7: 117,233,928 (GRCm39)	G485V	probably damaging	Het
Yars1	A	G	4: 129,090,981 (GRCm39)	T130A	probably benign	Het
Zfp652	A	T	11: 95,644,295 (GRCm39)	R205*	probably null	Het

Other mutations in Aadacl4fm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Aadacl4fm1	APN	4	144,255,192 (GRCm39)	missense	possibly damaging	0.92
IGL01866:Aadacl4fm1	APN	4	144,255,119 (GRCm39)	missense	possibly damaging	0.85
IGL02736:Aadacl4fm1	APN	4	144,255,207 (GRCm39)	missense	probably benign	0.15
IGL02928:Aadacl4fm1	APN	4	144,255,802 (GRCm39)	missense	possibly damaging	0.93
IGL03236:Aadacl4fm1	APN	4	144,246,486 (GRCm39)	missense	probably benign	0.00
R0023:Aadacl4fm1	UTSW	4	144,255,567 (GRCm39)	missense	probably damaging	1.00
R0304:Aadacl4fm1	UTSW	4	144,246,619 (GRCm39)	missense	probably benign	0.44
R0320:Aadacl4fm1	UTSW	4	144,248,990 (GRCm39)	missense	probably damaging	1.00
R0987:Aadacl4fm1	UTSW	4	144,246,502 (GRCm39)	missense	possibly damaging	0.81
R1124:Aadacl4fm1	UTSW	4	144,255,194 (GRCm39)	missense	probably benign	0.00
R1202:Aadacl4fm1	UTSW	4	144,250,236 (GRCm39)	missense	probably benign	0.07
R1708:Aadacl4fm1	UTSW	4	144,246,511 (GRCm39)	missense	probably benign	0.36
R2238:Aadacl4fm1	UTSW	4	144,246,469 (GRCm39)	missense	possibly damaging	0.88
R2334:Aadacl4fm1	UTSW	4	144,255,429 (GRCm39)	missense	probably damaging	1.00
R2351:Aadacl4fm1	UTSW	4	144,255,348 (GRCm39)	missense	probably damaging	1.00
R4913:Aadacl4fm1	UTSW	4	144,255,381 (GRCm39)	missense	possibly damaging	0.93
R5153:Aadacl4fm1	UTSW	4	144,248,837 (GRCm39)	missense	probably benign	0.06
R6312:Aadacl4fm1	UTSW	4	144,255,072 (GRCm39)	missense	probably benign
R6379:Aadacl4fm1	UTSW	4	144,248,912 (GRCm39)	missense	probably benign	0.10
R7555:Aadacl4fm1	UTSW	4	144,248,924 (GRCm39)	missense	probably damaging	0.99
R8077:Aadacl4fm1	UTSW	4	144,255,126 (GRCm39)	missense	probably benign	0.20
R9712:Aadacl4fm1	UTSW	4	144,255,354 (GRCm39)	missense	probably benign	0.06
Z1088:Aadacl4fm1	UTSW	4	144,255,239 (GRCm39)	missense	probably damaging	1.00
Z1177:Aadacl4fm1	UTSW	4	144,255,282 (GRCm39)	nonsense	probably null
Z1177:Aadacl4fm1	UTSW	4	144,255,070 (GRCm39)	nonsense	probably null

Posted On

2012-12-12