Mutagenetix > Incidental Mutation

Incidental Mutation 'R7006:AAdacl4fm3'

544711

Institutional Source

Beutler Lab

Gene Symbol

AAdacl4fm3

Ensembl Gene

ENSMUSG00000041735

Gene Name

AADACL4 family member 3

Synonyms

Gm13178

MMRRC Submission

045011-MU

Accession Numbers

Essential gene?

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

Stock #

R7006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144429761-144447974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144447853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 41 (V41A)

Ref Sequence

ENSEMBL: ENSMUSP00000045343 (fasta)

Gene Model

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

AlphaFold

B1AVU7

Predicted Effect

probably benign
Transcript: ENSMUST00000036876
AA Change: V41A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: V41A

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	G	A	13: 69,036,139 (GRCm39)	T174M	probably damaging	Het
Ankfy1	T	A	11: 72,631,290 (GRCm39)	I412N	probably benign	Het
AW146154	T	C	7: 41,130,648 (GRCm39)	E156G	possibly damaging	Het
B4galnt1	T	C	10: 127,005,700 (GRCm39)	L267P	probably benign	Het
Bod1l	T	C	5: 41,989,895 (GRCm39)	E276G	probably damaging	Het
Ccdc187	T	C	2: 26,171,102 (GRCm39)	T459A	probably benign	Het
Ccdc196	T	A	12: 78,255,702 (GRCm39)	*177R	probably null	Het
Cep72	G	A	13: 74,198,427 (GRCm39)	Q311*	probably null	Het
Cir1	T	C	2: 73,140,834 (GRCm39)	Q45R	probably damaging	Het
Ciz1	T	C	2: 32,261,127 (GRCm39)		probably null	Het
Crtap	G	T	9: 114,215,391 (GRCm39)	A166E	probably damaging	Het
Dipk1a	A	G	5: 108,058,027 (GRCm39)	V132A	probably benign	Het
Dmp1	A	G	5: 104,360,188 (GRCm39)	D288G	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fmnl2	C	A	2: 52,998,266 (GRCm39)	Q544K	probably benign	Het
Gpsm1	T	C	2: 26,212,572 (GRCm39)	L72P	probably damaging	Het
Gys1	G	A	7: 45,089,437 (GRCm39)	A199T	probably damaging	Het
Kcnq3	A	C	15: 65,892,165 (GRCm39)	Y403*	probably null	Het
Kcp	A	C	6: 29,499,169 (GRCm39)	Y298D	probably damaging	Het
Kif5c	T	C	2: 49,625,526 (GRCm39)	S599P	probably damaging	Het
Krt20	A	T	11: 99,328,587 (GRCm39)	Y113N	probably benign	Het
Mcm8	T	G	2: 132,665,181 (GRCm39)	V191G	probably damaging	Het
Msr1	T	A	8: 40,042,423 (GRCm39)	D384V	probably damaging	Het
Mtpap	A	C	18: 4,380,873 (GRCm39)	S184R	possibly damaging	Het
Npc1l1	G	A	11: 6,167,731 (GRCm39)	T1020M	probably benign	Het
Nphp4	A	G	4: 152,573,259 (GRCm39)	T66A	probably benign	Het
Or1o3	T	A	17: 37,573,625 (GRCm39)	*310L	probably null	Het
Or4f14	C	A	2: 111,742,601 (GRCm39)	V225L	probably benign	Het
Or8h10	G	A	2: 86,808,303 (GRCm39)	T279I	probably damaging	Het
Or8k18	T	A	2: 86,085,572 (GRCm39)	Q155L	probably benign	Het
Phf11d	G	T	14: 59,590,823 (GRCm39)	T178K	probably benign	Het
Ppm1d	A	G	11: 85,227,977 (GRCm39)	K298E	possibly damaging	Het
Rab2b	A	T	14: 52,503,690 (GRCm39)	I144K	probably benign	Het
Stoml1	A	G	9: 58,167,523 (GRCm39)	D5G	probably damaging	Het
Styxl2	T	C	1: 165,926,663 (GRCm39)	N983S	probably benign	Het
Tanc1	T	C	2: 59,626,188 (GRCm39)	V515A	probably damaging	Het
Tas1r3	A	G	4: 155,947,361 (GRCm39)	V108A	possibly damaging	Het
Tifab	T	C	13: 56,324,059 (GRCm39)	Y128C	probably benign	Het
Tmc6	G	T	11: 117,665,083 (GRCm39)	R397S	probably damaging	Het
Tnpo3	C	T	6: 29,589,162 (GRCm39)	A63T	probably damaging	Het
Trgc4	T	A	13: 19,528,995 (GRCm39)		probably benign	Het
Usp16	G	T	16: 87,268,724 (GRCm39)	C284F	probably damaging	Het
Wipf1	T	C	2: 73,267,441 (GRCm39)	D319G	probably damaging	Het
Xpnpep3	T	A	15: 81,326,649 (GRCm39)	W347R	probably damaging	Het
Zfp180	G	T	7: 23,804,537 (GRCm39)	E319*	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
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
R8012:AAdacl4fm3	UTSW	4	144,429,972 (GRCm39)	missense	possibly damaging	0.48
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'- AGAGTCCTGGAATTCCCTTTCC -3'
(R):5'- TCCACAAGTTCAGAGGTAAGGTC -3'

Sequencing Primer
(F):5'- GTGGAGCAAGATGCCCTTAATCC -3'
(R):5'- TCCTCAGGACAGCCATTCCTAG -3'

Posted On

2019-05-13