Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02527:Elac1'

297125

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elac1

Ensembl Gene

ENSMUSG00000036941

Gene Name

elaC ribonuclease Z 1

Synonyms

8430417G19Rik, 2610018O07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02527

Quality Score

Status

Chromosome

Chromosomal Location

73868109-73887550 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 73880304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 31 (E31*)

Ref Sequence

ENSEMBL: ENSMUSP00000041793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041138]

AlphaFold

Q8VEB6

Predicted Effect

probably null
Transcript: ENSMUST00000041138
AA Change: E31*

SMART Domains

Protein: ENSMUSP00000041793
Gene: ENSMUSG00000036941
AA Change: E31*

Domain	Start	End	E-Value	Type
Lactamase_B	20	181	9.65e-1	SMART
low complexity region	255	262	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a transposon insertion are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,638,392 (GRCm39)	V868A	probably damaging	Het
Adam25	T	A	8: 41,206,785 (GRCm39)	I17K	possibly damaging	Het
Arap2	A	T	5: 62,906,650 (GRCm39)	M123K	probably benign	Het
Asic3	A	G	5: 24,621,275 (GRCm39)	M332V	probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Cand1	A	T	10: 119,042,712 (GRCm39)	M1126K	probably damaging	Het
Capn3	A	G	2: 120,334,966 (GRCm39)	T818A	probably damaging	Het
Cda	G	A	4: 138,070,832 (GRCm39)	Q104*	probably null	Het
Cfhr4	T	C	1: 139,680,783 (GRCm39)	N245S	probably damaging	Het
Cpeb1	T	C	7: 81,009,635 (GRCm39)	D234G	probably damaging	Het
Cpq	A	G	15: 33,302,509 (GRCm39)	Y220C	probably damaging	Het
Diaph3	T	C	14: 87,047,795 (GRCm39)	K1026R	possibly damaging	Het
Dpep1	T	C	8: 123,925,487 (GRCm39)	F47L	probably damaging	Het
Dppa4	G	T	16: 48,109,456 (GRCm39)	R66L	possibly damaging	Het
Fggy	A	G	4: 95,585,306 (GRCm39)	K62E	probably damaging	Het
Ficd	T	A	5: 113,875,027 (GRCm39)	M32K	probably benign	Het
Foxd4	A	G	19: 24,877,178 (GRCm39)	S341P	probably benign	Het
Gnb4	G	T	3: 32,644,015 (GRCm39)	T181K	probably benign	Het
Grin2b	T	A	6: 135,900,389 (GRCm39)	Y164F	probably damaging	Het
Hmmr	A	G	11: 40,598,932 (GRCm39)	L564P	probably damaging	Het
Hsd17b4	G	A	18: 50,293,231 (GRCm39)	V257I	probably benign	Het
Itga10	C	A	3: 96,562,940 (GRCm39)		probably benign	Het
Kcnk18	T	C	19: 59,223,707 (GRCm39)	V284A	probably damaging	Het
Klf11	T	A	12: 24,705,322 (GRCm39)	S259T	probably benign	Het
Kmt2d	C	T	15: 98,739,628 (GRCm39)		probably benign	Het
Manea	A	G	4: 26,336,619 (GRCm39)		probably null	Het
Mybl1	T	C	1: 9,760,373 (GRCm39)	H75R	probably damaging	Het
Neb	G	A	2: 52,153,959 (GRCm39)	T2384M	probably damaging	Het
Neb	A	G	2: 52,039,225 (GRCm39)	I6938T	probably benign	Het
Ntrk3	T	C	7: 78,101,697 (GRCm39)	D412G	probably benign	Het
Olah	T	C	2: 3,343,979 (GRCm39)	E211G	probably damaging	Het
Or10ag2	T	C	2: 87,249,181 (GRCm39)	L261S	probably damaging	Het
Paxbp1	A	T	16: 90,834,161 (GRCm39)	N208K	possibly damaging	Het
Prrc1	T	A	18: 57,522,419 (GRCm39)	M417K	probably benign	Het
Ptprq	G	A	10: 107,522,424 (GRCm39)	T543M	probably benign	Het
Rasal1	T	C	5: 120,804,469 (GRCm39)	V447A	probably damaging	Het
Rbl1	T	C	2: 157,035,968 (GRCm39)	E287G	probably benign	Het
Rusf1	T	A	7: 127,875,403 (GRCm39)	T317S	possibly damaging	Het
Tec	A	G	5: 72,936,758 (GRCm39)		probably null	Het
Tex26	A	G	5: 149,380,407 (GRCm39)	D61G	probably damaging	Het
Tgfb1i1	G	A	7: 127,851,734 (GRCm39)		probably benign	Het
Tmem132c	T	C	5: 127,436,675 (GRCm39)	Y55H	possibly damaging	Het
Tmem63a	T	A	1: 180,780,539 (GRCm39)		probably null	Het
Umod	C	T	7: 119,068,690 (GRCm39)	G452D	probably damaging	Het
Vcan	G	A	13: 89,838,776 (GRCm39)	T2256I	possibly damaging	Het
Vmn1r31	A	T	6: 58,449,778 (GRCm39)	I29K	probably benign	Het
Vmn2r117	A	G	17: 23,696,199 (GRCm39)	Y403H	possibly damaging	Het
Vmn2r124	A	T	17: 18,286,764 (GRCm39)		probably null	Het
Vmn2r65	T	A	7: 84,595,724 (GRCm39)	K320M	possibly damaging	Het

Other mutations in Elac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02142:Elac1	APN	18	73,871,991 (GRCm39)	missense	probably benign	0.01
IGL03036:Elac1	APN	18	73,871,985 (GRCm39)	missense	probably benign	0.03
R0043:Elac1	UTSW	18	73,875,524 (GRCm39)	missense	probably benign	0.37
R0243:Elac1	UTSW	18	73,875,434 (GRCm39)	missense	probably damaging	1.00
R0615:Elac1	UTSW	18	73,871,954 (GRCm39)	missense	probably damaging	1.00
R0737:Elac1	UTSW	18	73,872,110 (GRCm39)	missense	probably damaging	1.00
R1872:Elac1	UTSW	18	73,875,717 (GRCm39)	missense	probably benign	0.05
R1900:Elac1	UTSW	18	73,872,316 (GRCm39)	missense	probably damaging	1.00
R2295:Elac1	UTSW	18	73,872,300 (GRCm39)	missense	probably benign
R5266:Elac1	UTSW	18	73,875,740 (GRCm39)	missense	probably benign	0.00
R5432:Elac1	UTSW	18	73,875,864 (GRCm39)	missense	possibly damaging	0.67
R6301:Elac1	UTSW	18	73,871,939 (GRCm39)	missense	probably damaging	1.00
R7238:Elac1	UTSW	18	73,872,359 (GRCm39)	missense	probably damaging	1.00
R7672:Elac1	UTSW	18	73,871,925 (GRCm39)	missense	probably benign
R8416:Elac1	UTSW	18	73,871,927 (GRCm39)	missense	probably damaging	1.00
R8702:Elac1	UTSW	18	73,872,291 (GRCm39)	missense	probably benign	0.00
R8989:Elac1	UTSW	18	73,880,310 (GRCm39)	nonsense	probably null
R9593:Elac1	UTSW	18	73,872,089 (GRCm39)	missense	probably benign	0.00
Z1088:Elac1	UTSW	18	73,872,161 (GRCm39)	missense	probably benign	0.06

Posted On

2015-04-16