Mutagenetix > Incidental Mutation

Incidental Mutation 'R5801:AAdacl4fm3'

448333

Institutional Source

Beutler Lab

Gene Symbol

AAdacl4fm3

Ensembl Gene

ENSMUSG00000041735

Gene Name

AADACL4 family member 3

Synonyms

Gm13178

MMRRC Submission

043390-MU

Accession Numbers

Essential gene?

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

Stock #

R5801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144429761-144447974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144430206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 261 (D261V)

Ref Sequence

ENSEMBL: ENSMUSP00000045343 (fasta)

Gene Model

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

AlphaFold

B1AVU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000036876
AA Change: D261V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: D261V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209924

Meta Mutation Damage Score

0.5852

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	C	T	3: 89,249,668 (GRCm39)	V667I	probably damaging	Het
Adamts14	T	C	10: 61,038,775 (GRCm39)	S912G	probably damaging	Het
Adamts20	C	A	15: 94,245,551 (GRCm39)	E584*	probably null	Het
Ago3	A	T	4: 126,265,561 (GRCm39)	N284K	possibly damaging	Het
Alx3	T	A	3: 107,512,257 (GRCm39)	Y298*	probably null	Het
Arhgap32	A	G	9: 32,167,084 (GRCm39)	I574V	probably benign	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Caskin2	T	C	11: 115,694,299 (GRCm39)	D400G	probably damaging	Het
Cdc73	T	A	1: 143,484,281 (GRCm39)	H525L	probably benign	Het
Cep135	A	G	5: 76,778,523 (GRCm39)	E674G	probably damaging	Het
Cic	G	A	7: 24,970,863 (GRCm39)	R198Q	possibly damaging	Het
Col5a2	T	C	1: 45,428,641 (GRCm39)		probably null	Het
Col6a5	A	G	9: 105,825,566 (GRCm39)	V9A	unknown	Het
Cpsf7	A	T	19: 10,516,996 (GRCm39)	D366V	probably benign	Het
Cuedc2	T	C	19: 46,319,796 (GRCm39)	E173G	probably damaging	Het
D5Ertd579e	T	C	5: 36,761,913 (GRCm39)	E1318G	probably damaging	Het
Ddx55	T	C	5: 124,704,560 (GRCm39)		probably null	Het
Dennd1b	T	A	1: 138,967,727 (GRCm39)		probably null	Het
Dpy19l3	T	C	7: 35,424,723 (GRCm39)	T111A	probably benign	Het
Edn1	C	A	13: 42,460,282 (GRCm39)	A179E	probably benign	Het
Eif2b1	T	C	5: 124,712,775 (GRCm39)		probably null	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,783 (GRCm39)	N466I	probably damaging	Het
Ermp1	A	G	19: 29,590,228 (GRCm39)	F825L	probably damaging	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fbxo41	G	T	6: 85,461,515 (GRCm39)	F64L	probably damaging	Het
Gabrb2	T	C	11: 42,312,216 (GRCm39)	S14P	probably benign	Het
Gm6505	A	T	3: 28,819,116 (GRCm39)		noncoding transcript	Het
Ighv1-18	T	A	12: 114,646,328 (GRCm39)	D91V	probably damaging	Het
Imp3	A	G	9: 56,845,086 (GRCm39)	D99G	probably benign	Het
Iqub	T	C	6: 24,449,768 (GRCm39)	K699R	probably benign	Het
Itpk1	A	G	12: 102,540,204 (GRCm39)	V293A	probably damaging	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mapk1ip1	T	A	7: 138,438,239 (GRCm39)	T64S	possibly damaging	Het
Mrpl9	T	C	3: 94,355,103 (GRCm39)	L225P	possibly damaging	Het
Ms4a14	A	G	19: 11,279,150 (GRCm39)	L1136S	possibly damaging	Het
Ms4a14	A	T	19: 11,279,246 (GRCm39)	I1104K	possibly damaging	Het
Nkain2	T	C	10: 32,278,264 (GRCm39)	T54A	probably damaging	Het
Ociad2	A	G	5: 73,483,642 (GRCm39)	F60S	probably damaging	Het
Or1e1f	T	C	11: 73,855,772 (GRCm39)	F113L	probably benign	Het
Polk	T	A	13: 96,620,094 (GRCm39)	H723L	probably damaging	Het
Prickle4	C	A	17: 47,999,698 (GRCm39)	R285L	possibly damaging	Het
Psmd2	A	G	16: 20,473,672 (GRCm39)	N121S	probably damaging	Het
Rab11fip5	T	A	6: 85,314,582 (GRCm39)	S1212C	probably damaging	Het
Rasgef1c	T	G	11: 49,860,883 (GRCm39)	M266R	probably damaging	Het
Rpusd4	A	G	9: 35,181,369 (GRCm39)	E155G	possibly damaging	Het
Rrbp1	A	G	2: 143,831,703 (GRCm39)	S155P	probably damaging	Het
Safb2	T	C	17: 56,870,103 (GRCm39)	Y991C	possibly damaging	Het
Shank1	G	A	7: 44,006,240 (GRCm39)	E1986K	possibly damaging	Het
Slc22a14	A	G	9: 119,001,149 (GRCm39)	F482L	probably benign	Het
Slc35e3	T	A	10: 117,581,767 (GRCm39)	M109L	probably benign	Het
Slco4c1	T	C	1: 96,799,809 (GRCm39)	N9S	probably damaging	Het
Slco6b1	C	T	1: 96,875,356 (GRCm39)		noncoding transcript	Het
Sptan1	A	G	2: 29,920,613 (GRCm39)		probably null	Het
Sptlc2	T	C	12: 87,388,545 (GRCm39)		probably null	Het
Stk10	C	T	11: 32,546,748 (GRCm39)	P335L	probably benign	Het
Strip1	A	C	3: 107,528,757 (GRCm39)	L391R	possibly damaging	Het
Tacr1	T	A	6: 82,534,134 (GRCm39)	S387T	probably benign	Het
Thbs2	A	T	17: 14,908,125 (GRCm39)	F213I	probably damaging	Het
Thbs3	A	T	3: 89,131,704 (GRCm39)	Y692F	probably benign	Het
Tktl2	C	A	8: 66,966,299 (GRCm39)	A619E	probably benign	Het
Tmc3	A	T	7: 83,271,686 (GRCm39)	E946V	possibly damaging	Het
Tmem132d	A	G	5: 127,861,964 (GRCm39)	V719A	possibly damaging	Het
Trpa1	T	C	1: 14,968,302 (GRCm39)	H488R	probably damaging	Het
Tsfm	TCACTCC	TCACTCCACTCC	10: 126,858,706 (GRCm39)		probably null	Het
Wdr35	A	G	12: 9,056,723 (GRCm39)	T503A	possibly damaging	Het
Zfp109	T	C	7: 23,928,126 (GRCm39)	K436E	probably damaging	Het
Zfp423	A	G	8: 88,585,990 (GRCm39)	Y78H	probably damaging	Het
Zfp970	A	G	2: 177,165,151 (GRCm39)	K26E	probably damaging	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
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
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'- TGAGCAATGATCTTGTCATCTGC -3'
(R):5'- TGTCACTCAGGCTTTGGTCAG -3'

Sequencing Primer
(F):5'- CAATGATCTTGTCATCTGCTAGGAG -3'
(R):5'- CACTCAGGCTTTGGTCAGTCAAG -3'

Posted On

2016-12-15