Mutagenetix > Incidental Mutation

Incidental Mutation 'F5426:D16Ertd472e'

579

Institutional Source

Beutler Lab

Gene Symbol

D16Ertd472e

Ensembl Gene

ENSMUSG00000022864

Gene Name

DNA segment, Chr 16, ERATO Doi 472, expressed

Synonyms

2310009O17Rik, E330003K22Rik, 1700010I10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

F5426 (G1) of strain 24G1

Quality Score

Status

Validated

Chromosome

Chromosomal Location

78337224-78373576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78344889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 73 (C73Y)

Ref Sequence

ENSEMBL: ENSMUSP00000156192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114218] [ENSMUST00000114219] [ENSMUST00000114220] [ENSMUST00000231272] [ENSMUST00000231973] [ENSMUST00000232052] [ENSMUST00000232528]

AlphaFold

Q9D7G4

Predicted Effect

probably damaging
Transcript: ENSMUST00000114218
AA Change: C73Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109856
Gene: ENSMUSG00000022864
AA Change: C73Y

Domain	Start	End	E-Value	Type
Pfam:EURL	1	284	2.6e-175	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114219
AA Change: C73Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109857
Gene: ENSMUSG00000022864
AA Change: C73Y

Domain	Start	End	E-Value	Type
Pfam:EURL	1	284	1.7e-164	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114220
AA Change: C73Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109858
Gene: ENSMUSG00000022864
AA Change: C73Y

Domain	Start	End	E-Value	Type
Pfam:EURL	1	284	1.7e-164	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000231272
AA Change: C73Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231973
AA Change: C73Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232052
AA Change: C73Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232329

Predicted Effect

probably damaging
Transcript: ENSMUST00000232528
AA Change: C73Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.3069

Coding Region Coverage

1x: 78.1%
3x: 56.4%

Het Detection Efficiency

35.2%

Validation Efficiency

91% (29/32)

Allele List at MGI

All alleles(29) : Targeted, other(2) Gene trapped(27)

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdk5rap2	A	T	4: 70,173,040 (GRCm39)	V1344E	probably benign	Het
Grk4	G	A	5: 34,902,503 (GRCm39)		probably benign	Het
Odc1	G	A	12: 17,599,424 (GRCm39)		probably null	Het
Or5v1	A	C	17: 37,810,427 (GRCm39)	K295T	probably damaging	Het
Prss12	T	C	3: 123,300,121 (GRCm39)	V744A	probably damaging	Het
Pudp	A	T	18: 50,701,612 (GRCm39)	N40K	probably benign	Het
Rab30	T	C	7: 92,478,876 (GRCm39)	I107T	possibly damaging	Het
Ryr3	T	A	2: 112,596,683 (GRCm39)		probably benign	Het
Sh2d1b1	C	A	1: 170,107,350 (GRCm39)		probably null	Het
Tmc5	T	A	7: 118,222,546 (GRCm39)	V82D	probably benign	Het

Other mutations in D16Ertd472e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0360:D16Ertd472e	UTSW	16	78,344,773 (GRCm39)	missense	probably benign	0.01
R1635:D16Ertd472e	UTSW	16	78,343,392 (GRCm39)	critical splice donor site	probably null
R2215:D16Ertd472e	UTSW	16	78,342,155 (GRCm39)	missense	probably benign	0.02
R4044:D16Ertd472e	UTSW	16	78,372,894 (GRCm39)	missense	probably damaging	1.00
R4657:D16Ertd472e	UTSW	16	78,344,814 (GRCm39)	missense	probably damaging	1.00
R4943:D16Ertd472e	UTSW	16	78,372,877 (GRCm39)	missense	probably damaging	1.00
R6170:D16Ertd472e	UTSW	16	78,342,155 (GRCm39)	missense	probably benign	0.02
R6389:D16Ertd472e	UTSW	16	78,342,071 (GRCm39)	missense	probably damaging	1.00
R7208:D16Ertd472e	UTSW	16	78,372,814 (GRCm39)	missense	probably damaging	0.99
R7390:D16Ertd472e	UTSW	16	78,344,576 (GRCm39)	missense	probably benign	0.03
R7581:D16Ertd472e	UTSW	16	78,343,445 (GRCm39)	missense	possibly damaging	0.63
R8969:D16Ertd472e	UTSW	16	78,344,682 (GRCm39)	missense	probably damaging	1.00
R9408:D16Ertd472e	UTSW	16	78,344,646 (GRCm39)	missense	probably benign	0.00
R9453:D16Ertd472e	UTSW	16	78,342,052 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified a G to A transition at position 503 of the D16Ertd472e transcript in exon 3 of 5 exons using Genbank record NM_025967.3. Three transcripts of the D16Ertd472e gene are displayed on Ensembl and Vega. The mutated nucleotide causes a cysteine to tyrosine substitution at amino acid 73 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The D16Ertd472e gene encodes a 290 amino acid protein that belongs to the EURL family (Uniprot Q9D7G4). In chickens, EURL is preferentially expressed in retinal precursor cells as well as in the anterior epithelial cells of the lens at early stages of development.

Posted On

2011-03-09