Mutagenetix > Incidental Mutation

Incidental Mutation 'RF045:Ecrg4'

604985

Institutional Source

Beutler Lab

Gene Symbol

Ecrg4

Ensembl Gene

ENSMUSG00000026051

Gene Name

ECRG4 augurin precursor

Synonyms

1500015O10Rik, augurin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF045 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

43769762-43781724 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

TTCTGTA to T at 43776352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027217]

AlphaFold

Q99LS0

Predicted Effect

probably benign
Transcript: ENSMUST00000027217

SMART Domains

Protein: ENSMUSP00000027217
Gene: ENSMUSG00000026051

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:Augurin	32	148	2.9e-56	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: No notable pheontype was detected in high throughput screens of homozygous mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GCG	GCGCCG	19: 5,475,246 (GRCm39)		probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 5,045,858 (GRCm39)		probably benign	Het
Cdsn	CAGC	CAGCAGCTCTCAGTCAGGAAGTAGC	17: 35,865,865 (GRCm39)		probably benign	Het
Cyb5r4	ATGT	ATGTGAGACACACTGCCCAGGGATGTGT	9: 86,922,455 (GRCm39)		probably null	Het
Cyb5r4	GA	GATGTGACAGACACACTGCCCAGGAA	9: 86,922,500 (GRCm39)		probably benign	Het
Cyp4a12b	C	T	4: 115,289,690 (GRCm39)	H186Y	probably benign	Het
Dbr1	AAGAGGA	AAGAGGAAGAGGA	9: 99,465,724 (GRCm39)		probably benign	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGCGCGGAGCCCAGTTCCTACCTCGTT	9: 20,821,425 (GRCm39)		probably null	Het
Dnmt1	TACCTCGTT	TACCTCGTTTTGGGGGCGGAGCACAGTTCCCACCTCGTT	9: 20,821,433 (GRCm39)		probably benign	Het
Gabre	CCGGCT	CCGGCTGCGGCT	X: 71,313,651 (GRCm39)		probably benign	Het
Gabre	CTCAGGCT	C	X: 71,313,787 (GRCm39)		probably null	Het
Garin5a	GGAGGA	GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA	7: 44,149,956 (GRCm39)		probably null	Het
Iqcf4	TTCCTTTTCCTTTT	TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTATCCTTTTCCTTTT	9: 106,447,809 (GRCm39)		probably benign	Het
Kcnq3	CCGCCAGCCGC	CC	15: 66,158,033 (GRCm39)		probably benign	Het
Krtap28-10	CCACAG	CCACAGTCACAG	1: 83,019,864 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACCACAGCCACAGCCACCACAGC	CACAGCCACCACAGCAACAGCCACCACAGCCACAGCCACCACAGC	1: 83,019,982 (GRCm39)		probably benign	Het
Lce1m	TGCTGCC	TGCTGCCCCCGCCGCTGCC	3: 92,925,599 (GRCm39)		probably benign	Het
Map1a	CAGCTCCAGCTCCAGCTCC	CAGCTCCAGCTCCAGCTCCCGCTCCAGCTCTAGCTCCAGCTCCAGCTCC	2: 121,136,774 (GRCm39)		probably benign	Het
Ncapd2	ACT	ACTACACGCCGTCAGAGCACCGTGTTCTGTCACATCCT	6: 125,156,199 (GRCm39)		probably null	Het
Neu1	TCTTCTA	T	17: 35,151,534 (GRCm39)		probably benign	Het
Ntn4	G	T	10: 93,546,487 (GRCm39)	R380L	possibly damaging	Het
Nusap1	A	ATACACGTTAGCAGTGAGGAGCAAGCTGAGG	2: 119,458,091 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,700,869 (GRCm39)	C605Y	probably damaging	Het
Ptms	CTCCTC	CTCCTCCTC	6: 124,891,413 (GRCm39)		probably benign	Het
Snx1	CTGTT	CTGTTGTT	9: 66,012,204 (GRCm39)		probably benign	Het
Strn	CCCAGTC	CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACACCAGTC	17: 78,984,711 (GRCm39)		probably null	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,635,087 (GRCm39)		probably benign	Het

Other mutations in Ecrg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02268:Ecrg4	APN	1	43,770,111 (GRCm39)	missense	probably damaging	0.99
R0543:Ecrg4	UTSW	1	43,781,449 (GRCm39)	missense	possibly damaging	0.95
R2149:Ecrg4	UTSW	1	43,781,496 (GRCm39)	missense	probably damaging	1.00
R4621:Ecrg4	UTSW	1	43,776,412 (GRCm39)	splice site	probably null
R4622:Ecrg4	UTSW	1	43,781,481 (GRCm39)	missense	possibly damaging	0.79
R5940:Ecrg4	UTSW	1	43,776,401 (GRCm39)	nonsense	probably null
R6648:Ecrg4	UTSW	1	43,777,851 (GRCm39)	missense	probably damaging	1.00
R6776:Ecrg4	UTSW	1	43,781,551 (GRCm39)	missense	probably damaging	1.00
RF007:Ecrg4	UTSW	1	43,776,352 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTAATGCCCTTGTCATCTATTCG -3'
(R):5'- CAGGTCTGCAAGCCTTTCTC -3'

Sequencing Primer
(F):5'- ATCAGTATTAGCCCTCGATACCATG -3'
(R):5'- AGGTCTGCAAGCCTTTCTCATATTC -3'

Posted On

2019-12-04