Mutagenetix > Incidental Mutation

Incidental Mutation 'R8012:AAdacl4fm3'

616942

Institutional Source

Beutler Lab

Gene Symbol

AAdacl4fm3

Ensembl Gene

ENSMUSG00000041735

Gene Name

AADACL4 family member 3

Synonyms

Gm13178

MMRRC Submission

046052-MU

Accession Numbers

Essential gene?

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

Stock #

R8012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144429761-144447974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144429972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 339 (D339V)

Ref Sequence

ENSEMBL: ENSMUSP00000045343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036876]

AlphaFold

B1AVU7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036876
AA Change: D339V

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: D339V

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
transmembrane domain	43	60	N/A	INTRINSIC
low complexity region	79	84	N/A	INTRINSIC
Pfam:Abhydrolase_3	116	286	2.3e-27	PFAM
Pfam:Abhydrolase_3	287	382	8.8e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (44/44)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	A	G	11: 45,955,873 (GRCm39)	E73G	possibly damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Alas1	A	T	9: 106,123,962 (GRCm39)	N65K	probably benign	Het
Amigo1	T	A	3: 108,095,958 (GRCm39)	S486T	probably damaging	Het
Arid1a	A	G	4: 133,420,174 (GRCm39)	L591S	unknown	Het
Asic1	T	C	15: 99,594,532 (GRCm39)	V326A	possibly damaging	Het
Aspm	A	G	1: 139,385,202 (GRCm39)	N282S	probably benign	Het
Atad5	A	G	11: 79,985,066 (GRCm39)	D51G	probably damaging	Het
Brd10	A	G	19: 29,695,534 (GRCm39)	S1320P	possibly damaging	Het
Cabp5	A	T	7: 13,141,706 (GRCm39)		probably null	Het
Cdca2	A	G	14: 67,914,821 (GRCm39)	C813R	probably benign	Het
Chpf2	A	T	5: 24,795,343 (GRCm39)	R289W	probably damaging	Het
Csf1r	A	T	18: 61,250,136 (GRCm39)	N367I	possibly damaging	Het
Cyp2c66	T	C	19: 39,172,369 (GRCm39)	F428S	probably damaging	Het
Dgkb	A	T	12: 38,189,485 (GRCm39)	N296I	probably benign	Het
Dhcr24	T	C	4: 106,443,853 (GRCm39)	F481S	probably damaging	Het
Diaph3	T	C	14: 87,274,958 (GRCm39)	Y166C	probably benign	Het
Dnah7b	A	T	1: 46,282,525 (GRCm39)	Q2886L	probably damaging	Het
Dock6	A	T	9: 21,757,807 (GRCm39)	V99E	probably benign	Het
F830045P16Rik	T	C	2: 129,316,352 (GRCm39)	D119G	possibly damaging	Het
Fasn	A	T	11: 120,702,428 (GRCm39)	L1773Q	probably damaging	Het
Filip1	A	T	9: 79,725,241 (GRCm39)	V1126E	probably damaging	Het
Fnta	T	C	8: 26,489,535 (GRCm39)	I359V	probably benign	Het
Hoxc10	T	C	15: 102,875,902 (GRCm39)	S204P	probably benign	Het
Kif26b	T	C	1: 178,743,815 (GRCm39)	C1304R	probably benign	Het
Lamc1	T	C	1: 153,097,358 (GRCm39)	E1562G	probably benign	Het
Lrguk	A	G	6: 34,033,038 (GRCm39)	N235D	probably benign	Het
Ly6g6f	T	C	17: 35,300,060 (GRCm39)	R263G	possibly damaging	Het
Mcrs1	C	A	15: 99,147,766 (GRCm39)	S47I	probably damaging	Het
Mx1	T	A	16: 97,258,572 (GRCm39)	I42F	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Nup188	T	A	2: 30,227,277 (GRCm39)	C1235S	possibly damaging	Het
Obsl1	T	A	1: 75,469,317 (GRCm39)	H1208L	probably benign	Het
Pcmt1	T	C	10: 7,516,527 (GRCm39)	D175G	probably benign	Het
Pcolce	T	C	5: 137,603,457 (GRCm39)	K459E	probably benign	Het
Pudp	T	G	18: 50,701,310 (GRCm39)	H141P	possibly damaging	Het
Rock2	T	C	12: 16,992,743 (GRCm39)	Y171H	probably damaging	Het
Rwdd1	A	C	10: 33,885,198 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,522,565 (GRCm39)	V1085A	probably benign	Het
Tie1	A	G	4: 118,343,678 (GRCm39)	L88P	possibly damaging	Het
Tmem131	T	C	1: 36,847,045 (GRCm39)	D1351G	probably damaging	Het
Tph1	A	T	7: 46,306,303 (GRCm39)	D219E	probably damaging	Het
Wdr86	A	G	5: 24,935,177 (GRCm39)		probably null	Het

Other mutations in AAdacl4fm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:AAdacl4fm3	APN	4	144,430,263 (GRCm39)	missense	possibly damaging	0.87
IGL01985:AAdacl4fm3	APN	4	144,442,024 (GRCm39)	nonsense	probably null
IGL02587:AAdacl4fm3	APN	4	144,429,969 (GRCm39)	missense	possibly damaging	0.94
P0018:AAdacl4fm3	UTSW	4	144,429,767 (GRCm39)	missense	probably benign	0.00
R0395:AAdacl4fm3	UTSW	4	144,429,765 (GRCm39)	missense	probably benign	0.14
R1617:AAdacl4fm3	UTSW	4	144,441,961 (GRCm39)	missense	probably damaging	1.00
R3802:AAdacl4fm3	UTSW	4	144,430,074 (GRCm39)	missense	possibly damaging	0.82
R4409:AAdacl4fm3	UTSW	4	144,447,872 (GRCm39)	missense	possibly damaging	0.86
R4577:AAdacl4fm3	UTSW	4	144,430,323 (GRCm39)	missense	probably damaging	1.00
R4603:AAdacl4fm3	UTSW	4	144,429,798 (GRCm39)	missense	probably benign	0.00
R5069:AAdacl4fm3	UTSW	4	144,430,437 (GRCm39)	missense	probably damaging	1.00
R5801:AAdacl4fm3	UTSW	4	144,430,206 (GRCm39)	missense	probably damaging	1.00
R5802:AAdacl4fm3	UTSW	4	144,430,206 (GRCm39)	missense	probably damaging	1.00
R5893:AAdacl4fm3	UTSW	4	144,429,766 (GRCm39)	missense	probably benign
R6148:AAdacl4fm3	UTSW	4	144,447,887 (GRCm39)	missense	possibly damaging	0.89
R6466:AAdacl4fm3	UTSW	4	144,430,437 (GRCm39)	missense	probably damaging	1.00
R6655:AAdacl4fm3	UTSW	4	144,431,815 (GRCm39)	missense	probably damaging	1.00
R7006:AAdacl4fm3	UTSW	4	144,447,853 (GRCm39)	missense	probably benign	0.00
R7021:AAdacl4fm3	UTSW	4	144,442,062 (GRCm39)	missense	probably damaging	1.00
R7030:AAdacl4fm3	UTSW	4	144,430,173 (GRCm39)	missense	possibly damaging	0.85
R7514:AAdacl4fm3	UTSW	4	144,429,798 (GRCm39)	missense	possibly damaging	0.66
R7773:AAdacl4fm3	UTSW	4	144,430,047 (GRCm39)	missense	probably damaging	0.98
R7791:AAdacl4fm3	UTSW	4	144,430,015 (GRCm39)	missense	probably damaging	1.00
R8082:AAdacl4fm3	UTSW	4	144,441,897 (GRCm39)	missense	probably damaging	1.00
R9250:AAdacl4fm3	UTSW	4	144,442,011 (GRCm39)	missense	probably benign	0.04
R9721:AAdacl4fm3	UTSW	4	144,429,942 (GRCm39)	missense	possibly damaging	0.94
Z1176:AAdacl4fm3	UTSW	4	144,429,895 (GRCm39)	missense	probably damaging	1.00
Z1177:AAdacl4fm3	UTSW	4	144,430,216 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TTTAAAACATTCATGGAGCAGGGG -3'
(R):5'- AATGCCATAGTGACAGGAGC -3'

Sequencing Primer
(F):5'- GAAAGAGAAAGGCTGCTTATCAAAC -3'
(R):5'- ACAGGAGCTTTTGTGCCC -3'

Posted On

2020-01-23