Mutagenetix > Incidental Mutation

Incidental Mutation 'R6648:Ecrg4'

524328

Institutional Source

Beutler Lab

Gene Symbol

Ecrg4

Ensembl Gene

ENSMUSG00000026051

Gene Name

ECRG4 augurin precursor

Synonyms

1500015O10Rik, augurin

MMRRC Submission

044769-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6648 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43769762-43781724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43777851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 87 (F87I)

Ref Sequence

ENSEMBL: ENSMUSP00000027217 (fasta)

Gene Model

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

AlphaFold

Q99LS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027217
AA Change: F87I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027217
Gene: ENSMUSG00000026051
AA Change: F87I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188753

Meta Mutation Damage Score

0.4534

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

98% (42/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,827,490 (GRCm39)	Y511H	probably damaging	Het
Arhgef38	A	T	3: 132,838,236 (GRCm39)	I600N	probably damaging	Het
Cacna1g	A	T	11: 94,323,395 (GRCm39)	C1270S	probably damaging	Het
Ccar2	T	G	14: 70,376,674 (GRCm39)	D890A	probably benign	Het
Cep76	A	T	18: 67,752,804 (GRCm39)	V548D	probably benign	Het
Chat	T	G	14: 32,176,651 (GRCm39)	Q41P	probably benign	Het
Ddx24	T	A	12: 103,374,634 (GRCm39)	N850I	probably benign	Het
Dst	A	G	1: 34,301,122 (GRCm39)	I5879V	possibly damaging	Het
Ece1	A	G	4: 137,648,470 (GRCm39)	T92A	probably benign	Het
Fpgs	G	T	2: 32,574,799 (GRCm39)	C439*	probably null	Het
H2-Q4	A	T	17: 35,601,981 (GRCm39)	E281V	probably damaging	Het
Hydin	A	G	8: 111,252,299 (GRCm39)		probably null	Het
Iqgap2	T	C	13: 95,818,719 (GRCm39)	E679G	probably benign	Het
Kif12	A	T	4: 63,089,554 (GRCm39)		probably null	Het
Kif21b	T	C	1: 136,080,135 (GRCm39)	V557A	probably benign	Het
Mki67	C	G	7: 135,299,169 (GRCm39)	S1955T	probably damaging	Het
Mybpc1	G	A	10: 88,358,861 (GRCm39)	T1110M	probably damaging	Het
Myh9	T	C	15: 77,650,972 (GRCm39)	H1625R	probably benign	Het
Nbeal2	G	A	9: 110,466,710 (GRCm39)	T704M	probably damaging	Het
Or1ad6	G	A	11: 50,860,000 (GRCm39)	D52N	probably damaging	Het
Or5a21	A	T	19: 12,311,130 (GRCm39)	M30K	probably benign	Het
Osbpl9	C	A	4: 108,948,876 (GRCm39)	Q91H	possibly damaging	Het
Pcsk5	A	T	19: 17,553,185 (GRCm39)	L665Q	probably damaging	Het
Pgm5	T	C	19: 24,838,996 (GRCm39)	D53G	probably benign	Het
Plcd4	A	G	1: 74,591,172 (GRCm39)	D189G	probably benign	Het
Plxnb1	A	T	9: 108,933,398 (GRCm39)	Q676L	probably benign	Het
Prss33	A	G	17: 24,053,676 (GRCm39)	S134P	probably benign	Het
Rln1	G	T	19: 29,309,521 (GRCm39)	T86K	probably benign	Het
Rnf213	G	A	11: 119,370,746 (GRCm39)	A4785T	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sh3tc2	T	C	18: 62,148,111 (GRCm39)	C1274R	probably benign	Het
Slc35a5	A	T	16: 44,964,280 (GRCm39)	F318I	probably damaging	Het
Slc41a3	T	C	6: 90,596,490 (GRCm39)	F20L	probably damaging	Het
Socs4	T	A	14: 47,527,633 (GRCm39)	N189K	probably benign	Het
Tiam2	A	T	17: 3,557,148 (GRCm39)	E1196V	probably damaging	Het
Tmc3	T	A	7: 83,246,751 (GRCm39)	V164D	probably damaging	Het
Trim46	T	C	3: 89,142,549 (GRCm39)	E623G	possibly damaging	Het
Ubr4	C	A	4: 139,180,030 (GRCm39)	C3403*	probably null	Het
Vmn1r194	A	T	13: 22,428,694 (GRCm39)	T104S	probably benign	Het
Vmn2r112	A	T	17: 22,837,467 (GRCm39)	I643F	probably damaging	Het
Zfp1002	T	C	2: 150,097,097 (GRCm39)	I111V	probably benign	Het
Zmynd11	T	G	13: 9,763,057 (GRCm39)	S95R	probably benign	Het
Zswim4	C	A	8: 84,957,543 (GRCm39)	R175L	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
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
RF045:Ecrg4	UTSW	1	43,776,352 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GAACCCACTTTGATCCTTGCG -3'
(R):5'- CTCTGATATTTTGACAGAGCGAC -3'

Sequencing Primer
(F):5'- CTGTATGTACATGGTGCACAGAC -3'
(R):5'- TATTTTGACAGAGCGACAGAGAACAC -3'

Posted On

2018-06-22