Mutagenetix > Incidental Mutation

Incidental Mutation 'R6814:Aadacl4fm4'

533996

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4fm4

Ensembl Gene

ENSMUSG00000078505

Gene Name

AADACL4 family member 4

Synonyms

Gm436, LOC230890

MMRRC Submission

044926-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

R6814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144396507-144412938 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 144397216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 172 (L172*)

Ref Sequence

ENSEMBL: ENSMUSP00000101373 (fasta)

Gene Model

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

AlphaFold

B1AVU6

Predicted Effect

probably null
Transcript: ENSMUST00000105747
AA Change: L172*

SMART Domains

Protein: ENSMUSP00000101373
Gene: ENSMUSG00000078505
AA Change: L172*

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,750 (GRCm39)	V336I	probably benign	Het
Abca7	G	A	10: 79,838,833 (GRCm39)	V669I	probably damaging	Het
Abcg3	T	C	5: 105,083,860 (GRCm39)	T637A	probably benign	Het
Afap1l1	A	T	18: 61,866,812 (GRCm39)	V749E	probably benign	Het
Arfgef3	A	G	10: 18,470,767 (GRCm39)	L1666S	probably damaging	Het
Atp2b1	A	G	10: 98,858,877 (GRCm39)	N284D	possibly damaging	Het
Ccdc196	T	A	12: 78,244,141 (GRCm39)	D31E	probably damaging	Het
Ccdc24	T	C	4: 117,727,123 (GRCm39)	T196A	probably benign	Het
Cdc20b	G	A	13: 113,220,509 (GRCm39)	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,486,212 (GRCm39)	R570*	probably null	Het
Cit	G	A	5: 116,023,022 (GRCm39)	C283Y	probably damaging	Het
Cpa5	A	T	6: 30,614,053 (GRCm39)	Q65L	probably benign	Het
Cspg4	A	G	9: 56,797,624 (GRCm39)	I1363V	possibly damaging	Het
D2hgdh	C	A	1: 93,763,025 (GRCm39)	T270N	possibly damaging	Het
Dnah8	G	T	17: 30,981,653 (GRCm39)	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,200,022 (GRCm39)	N186S	probably damaging	Het
Dock4	T	C	12: 40,862,325 (GRCm39)		probably null	Het
Ear6	A	G	14: 52,091,885 (GRCm39)	Y144C	probably damaging	Het
Fam53a	T	C	5: 33,767,829 (GRCm39)	Y27C	probably benign	Het
Fgf2	A	G	3: 37,458,860 (GRCm39)	K85E	probably damaging	Het
Fubp1	A	T	3: 151,931,783 (GRCm39)	Q37L	probably benign	Het
Gabra2	G	T	5: 71,251,882 (GRCm39)	P22T	probably damaging	Het
Gm10401	T	C	5: 115,236,245 (GRCm39)		probably benign	Het
Iglv3	A	G	16: 19,060,034 (GRCm39)	I98T	probably damaging	Het
Nlrp2	C	T	7: 5,311,709 (GRCm39)	R922H	probably benign	Het
Nr1h4	T	C	10: 89,290,607 (GRCm39)	T474A	probably damaging	Het
Pcdhb20	A	C	18: 37,639,218 (GRCm39)	E581D	probably benign	Het
Pidd1	G	T	7: 141,019,331 (GRCm39)	T750K	probably benign	Het
Pigq	A	T	17: 26,150,630 (GRCm39)		probably benign	Het
Rab44	A	G	17: 29,358,784 (GRCm39)	E324G	probably benign	Het
Slc24a3	C	T	2: 145,458,630 (GRCm39)	Q537*	probably null	Het
Slc34a1	T	C	13: 24,006,372 (GRCm39)	I466T	possibly damaging	Het
Slc7a10	T	C	7: 34,894,689 (GRCm39)	V116A	probably damaging	Het
Taf15	T	A	11: 83,389,915 (GRCm39)	N228K	probably damaging	Het
Tbx19	A	T	1: 164,975,202 (GRCm39)		probably null	Het
Tgoln1	A	G	6: 72,592,538 (GRCm39)	V314A	possibly damaging	Het
Them4	A	T	3: 94,231,678 (GRCm39)	I172F	probably damaging	Het
Tmc7	T	A	7: 118,146,846 (GRCm39)	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,840,669 (GRCm39)	L421P	probably damaging	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r11	T	G	5: 109,194,976 (GRCm39)	R783S	possibly damaging	Het
Zfp180	G	T	7: 23,805,306 (GRCm39)	C575F	probably damaging	Het
Zfp189	A	T	4: 49,529,026 (GRCm39)	N43I	probably damaging	Het
Zfp36l2	A	G	17: 84,493,521 (GRCm39)		probably benign	Het
Zfp592	T	C	7: 80,673,576 (GRCm39)	V180A	probably benign	Het
Zfp605	C	T	5: 110,275,311 (GRCm39)	P143L	probably benign	Het
Zfp646	T	C	7: 127,482,505 (GRCm39)	S1561P	probably benign	Het

Other mutations in Aadacl4fm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Aadacl4fm4	APN	4	144,400,349 (GRCm39)	missense	probably benign	0.12
IGL01369:Aadacl4fm4	APN	4	144,401,215 (GRCm39)	missense	possibly damaging	0.50
IGL01503:Aadacl4fm4	APN	4	144,401,137 (GRCm39)	missense	probably damaging	0.99
IGL01505:Aadacl4fm4	APN	4	144,401,188 (GRCm39)	missense	probably damaging	1.00
IGL01954:Aadacl4fm4	APN	4	144,396,741 (GRCm39)	missense	probably damaging	1.00
IGL02447:Aadacl4fm4	APN	4	144,401,269 (GRCm39)	missense	probably benign	0.02
IGL02804:Aadacl4fm4	APN	4	144,397,009 (GRCm39)	missense	possibly damaging	0.95
R0373:Aadacl4fm4	UTSW	4	144,412,790 (GRCm39)	missense	possibly damaging	0.54
R1124:Aadacl4fm4	UTSW	4	144,396,845 (GRCm39)	missense	probably benign	0.00
R1598:Aadacl4fm4	UTSW	4	144,396,994 (GRCm39)	missense	possibly damaging	0.60
R1734:Aadacl4fm4	UTSW	4	144,396,596 (GRCm39)	missense	probably benign	0.04
R1763:Aadacl4fm4	UTSW	4	144,396,529 (GRCm39)	missense	probably benign	0.24
R1968:Aadacl4fm4	UTSW	4	144,397,193 (GRCm39)	missense	possibly damaging	0.83
R3055:Aadacl4fm4	UTSW	4	144,401,268 (GRCm39)	missense	probably benign	0.16
R3056:Aadacl4fm4	UTSW	4	144,401,268 (GRCm39)	missense	probably benign	0.16
R3930:Aadacl4fm4	UTSW	4	144,396,698 (GRCm39)	missense	probably damaging	1.00
R5124:Aadacl4fm4	UTSW	4	144,401,289 (GRCm39)	missense	probably damaging	1.00
R5407:Aadacl4fm4	UTSW	4	144,396,895 (GRCm39)	missense	probably benign	0.01
R6302:Aadacl4fm4	UTSW	4	144,396,760 (GRCm39)	nonsense	probably null
R6872:Aadacl4fm4	UTSW	4	144,397,216 (GRCm39)	nonsense	probably null
R6988:Aadacl4fm4	UTSW	4	144,412,895 (GRCm39)	missense	probably benign	0.01
R7131:Aadacl4fm4	UTSW	4	144,396,637 (GRCm39)	missense	probably damaging	0.98
R7895:Aadacl4fm4	UTSW	4	144,396,913 (GRCm39)	missense	possibly damaging	0.95
R8108:Aadacl4fm4	UTSW	4	144,397,239 (GRCm39)	missense	probably benign	0.04
R8378:Aadacl4fm4	UTSW	4	144,397,169 (GRCm39)	missense	probably benign	0.24
R8676:Aadacl4fm4	UTSW	4	144,396,683 (GRCm39)	missense	possibly damaging	0.94
R8817:Aadacl4fm4	UTSW	4	144,400,361 (GRCm39)	missense	probably benign	0.00
R9328:Aadacl4fm4	UTSW	4	144,401,256 (GRCm39)	missense	probably benign	0.02
R9640:Aadacl4fm4	UTSW	4	144,412,809 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TCAACAAGTCTTTGGAAAGAAGTGG -3'
(R):5'- TCACGCTGAGGACTGAATCAG -3'

Sequencing Primer
(F):5'- TGGTAAAAGGAAATTAATGACCTGC -3'
(R):5'- TGAGGACTGAATCAGAATCAGTTACC -3'

Posted On

2018-09-12