Mutagenetix > Incidental Mutation

Incidental Mutation 'R5266:Elac1'

401732

Institutional Source

Beutler Lab

Gene Symbol

Elac1

Ensembl Gene

ENSMUSG00000036941

Gene Name

elaC ribonuclease Z 1

Synonyms

8430417G19Rik, 2610018O07Rik

MMRRC Submission

042858-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73868109-73887550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73875740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 97 (V97A)

Ref Sequence

ENSEMBL: ENSMUSP00000041793 (fasta)

Gene Model

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

AlphaFold

Q8VEB6

Predicted Effect

probably benign
Transcript: ENSMUST00000041138
AA Change: V97A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041793
Gene: ENSMUSG00000036941
AA Change: V97A

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

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,591,455 (GRCm39)	N457S	probably damaging	Het
Asic4	G	A	1: 75,427,567 (GRCm39)	G31E	probably benign	Het
Atp2a3	A	G	11: 72,866,223 (GRCm39)	D281G	probably damaging	Het
Azin1	T	C	15: 38,491,795 (GRCm39)	D387G	probably benign	Het
Bdp1	T	C	13: 100,204,043 (GRCm39)	M660V	probably benign	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Cfap54	T	G	10: 92,651,764 (GRCm39)	K3095N	probably benign	Het
Chl1	A	G	6: 103,677,504 (GRCm39)	N706S	probably damaging	Het
Crym	A	G	7: 119,798,517 (GRCm39)	V113A	probably benign	Het
Cux1	A	G	5: 136,341,548 (GRCm39)	S607P	probably damaging	Het
Cyp3a44	T	C	5: 145,731,207 (GRCm39)	N198D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Erbb3	G	A	10: 128,405,505 (GRCm39)	T1251M	probably damaging	Het
Gask1b	T	A	3: 79,843,910 (GRCm39)	N12K	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hydin	A	G	8: 111,061,416 (GRCm39)	H316R	possibly damaging	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Lyst	T	C	13: 13,835,555 (GRCm39)	Y1746H	probably damaging	Het
Map3k11	T	A	19: 5,750,622 (GRCm39)	N613K	probably benign	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mrm1	A	T	11: 84,710,086 (GRCm39)	L38Q	possibly damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Ndst2	G	A	14: 20,774,555 (GRCm39)	R834W	probably damaging	Het
Opa1	T	A	16: 29,436,948 (GRCm39)	I637N	probably benign	Het
Or52h9	A	T	7: 104,203,026 (GRCm39)	Q300L	probably benign	Het
Or5d43	T	C	2: 88,104,565 (GRCm39)	Y276C	possibly damaging	Het
Padi4	A	G	4: 140,473,442 (GRCm39)	V665A	possibly damaging	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pkp3	A	G	7: 140,663,190 (GRCm39)	D345G	probably damaging	Het
Pla2g4a	T	C	1: 149,740,918 (GRCm39)	M366V	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pon3	T	C	6: 5,240,860 (GRCm39)	D34G	possibly damaging	Het
Ppargc1b	A	T	18: 61,448,876 (GRCm39)	S133T	probably damaging	Het
Ppp4r3b	T	C	11: 29,123,309 (GRCm39)	S2P	possibly damaging	Het
Rbm20	A	G	19: 53,801,818 (GRCm39)	T109A	probably damaging	Het
Rexo5	C	A	7: 119,443,660 (GRCm39)	H690Q	probably benign	Het
Scube2	C	T	7: 109,408,437 (GRCm39)	G670D	probably damaging	Het
Sipa1l2	T	C	8: 126,218,865 (GRCm39)	I157M	probably damaging	Het
Slbp	A	T	5: 33,801,210 (GRCm39)	I167N	probably damaging	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Stk36	T	C	1: 74,650,317 (GRCm39)	V283A	probably benign	Het
Tead1	A	G	7: 112,358,673 (GRCm39)		probably benign	Het
Tecpr2	G	C	12: 110,881,836 (GRCm39)	W135S	probably damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Ttc39a	A	T	4: 109,279,701 (GRCm39)	I112F	probably benign	Het
Vmn1r128	A	T	7: 21,083,328 (GRCm39)	T11S	probably benign	Het
Vnn1	G	A	10: 23,779,303 (GRCm39)	C404Y	probably damaging	Het
Wdr41	T	C	13: 95,131,759 (GRCm39)	F57L	probably damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Zfp985	A	T	4: 147,667,289 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,962,865 (GRCm39)	S176P	probably benign	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
IGL02527:Elac1	APN	18	73,880,304 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTTGTCCTTTGGGAGAGC -3'
(R):5'- CAAGAGTCTAGTCTGCGCTG -3'

Sequencing Primer
(F):5'- AGAGCTGTCTGTTTCATCCATG -3'
(R):5'- TGCTAAGTAAAAGAGTTGTCTCGGC -3'

Posted On

2016-07-06