Mutagenetix > Incidental Mutation

Incidental Mutation 'V5088:2510039O18Rik'

44062

Institutional Source

Beutler Lab

Gene Symbol

2510039O18Rik

Ensembl Gene

ENSMUSG00000044496

Gene Name

RIKEN cDNA 2510039O18 gene

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

V5088 () of strain 521

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148025352-148031771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 148026233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 251 (S251F)

Ref Sequence

ENSEMBL: ENSMUSP00000099522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103232]

AlphaFold

Q91X21

Predicted Effect

probably benign
Transcript: ENSMUST00000103232
AA Change: S251F

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099522
Gene: ENSMUSG00000044496
AA Change: S251F

Domain	Start	End	E-Value	Type
Pfam:DUF2152	6	629	2.9e-251	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	C	G	17: 32,555,713 (GRCm39)		probably null	Het
Ccar2	G	T	14: 70,388,738 (GRCm39)	L158I	probably damaging	Het
Megf11	C	A	9: 64,597,351 (GRCm39)	C674*	probably null	Het
Or2n1d	A	G	17: 38,646,050 (GRCm39)	M1V	probably null	Het
Psme4	A	G	11: 30,801,210 (GRCm39)	E1455G	probably benign	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het

Other mutations in 2510039O18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:2510039O18Rik	APN	4	148,029,521 (GRCm39)	missense	probably damaging	1.00
R1135:2510039O18Rik	UTSW	4	148,029,115 (GRCm39)	missense	probably benign	0.26
R1546:2510039O18Rik	UTSW	4	148,026,232 (GRCm39)	missense	probably damaging	0.97
R2008:2510039O18Rik	UTSW	4	148,026,034 (GRCm39)	missense	probably benign	0.31
R2437:2510039O18Rik	UTSW	4	148,031,075 (GRCm39)	makesense	probably null
R3937:2510039O18Rik	UTSW	4	148,026,510 (GRCm39)	missense	possibly damaging	0.54
R3970:2510039O18Rik	UTSW	4	148,029,779 (GRCm39)	missense	probably damaging	0.99
R3973:2510039O18Rik	UTSW	4	148,029,488 (GRCm39)	missense	probably damaging	1.00
R3974:2510039O18Rik	UTSW	4	148,029,488 (GRCm39)	missense	probably damaging	1.00
R4050:2510039O18Rik	UTSW	4	148,029,449 (GRCm39)	missense	probably damaging	1.00
R4431:2510039O18Rik	UTSW	4	148,026,022 (GRCm39)	missense	probably benign	0.01
R4750:2510039O18Rik	UTSW	4	148,025,945 (GRCm39)	missense	probably damaging	0.99
R4943:2510039O18Rik	UTSW	4	148,029,555 (GRCm39)	missense	probably damaging	1.00
R5139:2510039O18Rik	UTSW	4	148,029,905 (GRCm39)	missense	probably damaging	0.98
R6735:2510039O18Rik	UTSW	4	148,026,274 (GRCm39)	missense	probably benign
R7139:2510039O18Rik	UTSW	4	148,026,295 (GRCm39)	missense	possibly damaging	0.90
R7689:2510039O18Rik	UTSW	4	148,029,440 (GRCm39)	missense	probably damaging	1.00
R8307:2510039O18Rik	UTSW	4	148,025,837 (GRCm39)	missense	probably benign	0.00
R9336:2510039O18Rik	UTSW	4	148,029,490 (GRCm39)	missense	probably benign	0.01
R9591:2510039O18Rik	UTSW	4	148,029,488 (GRCm39)	missense	probably damaging	1.00
R9618:2510039O18Rik	UTSW	4	148,029,873 (GRCm39)	nonsense	probably null
V5622:2510039O18Rik	UTSW	4	148,026,233 (GRCm39)	missense	probably benign	0.18
V5622:2510039O18Rik	UTSW	4	148,026,233 (GRCm39)	missense	probably benign	0.18
Z1088:2510039O18Rik	UTSW	4	148,029,202 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGCAGCTACGCCCGCTGAATGT -3'
(R):5'- GCCCAGAGGTACTGGTGATCCTGAA -3'

Sequencing Primer
(F):5'- GGGACTGCGTGCTACTG -3'
(R):5'- TACTGGTGATCCTGAAGCAGC -3'

Posted On

2013-05-31