Mutagenetix > Incidental Mutation

Incidental Mutation 'R3016:Idi2'

265716

Institutional Source

Beutler Lab

Gene Symbol

Idi2

Ensembl Gene

ENSMUSG00000033520

Gene Name

isopentenyl-diphosphate delta isomerase 2

Synonyms

4833405L16Rik

MMRRC Submission

040537-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R3016 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

9002899-9010981 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 9009466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 228 (*228R)

Ref Sequence

ENSEMBL: ENSMUSP00000036621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038598]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000038598
AA Change: *228R

SMART Domains

Protein: ENSMUSP00000036621
Gene: ENSMUSG00000033520
AA Change: *228R

Domain	Start	End	E-Value	Type
Pfam:NUDIX	50	199	2e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104108

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,790,048 (GRCm39)	D74G	probably benign	Het
Alkbh8	G	T	9: 3,369,658 (GRCm39)	S309I	probably benign	Het
Asgr2	A	T	11: 69,996,235 (GRCm39)	I226F	probably damaging	Het
Cep250	A	G	2: 155,833,208 (GRCm39)	E1690G	probably damaging	Het
Fancd2	T	C	6: 113,513,687 (GRCm39)	V71A	probably benign	Het
Foxo3	G	T	10: 42,073,352 (GRCm39)	D388E	probably benign	Het
Gna14	A	T	19: 16,580,746 (GRCm39)	I195F	probably benign	Het
Hecw2	T	C	1: 53,869,839 (GRCm39)	D1463G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lag3	A	G	6: 124,885,429 (GRCm39)	V317A	probably damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or2aj4	A	G	16: 19,385,141 (GRCm39)	L164P	probably damaging	Het
Or8g53	A	T	9: 39,683,979 (GRCm39)	V39E	probably benign	Het
Padi3	G	T	4: 140,513,898 (GRCm39)	F593L	probably damaging	Het
Piezo1	A	G	8: 123,232,766 (GRCm39)		probably null	Het
Piezo2	G	A	18: 63,175,903 (GRCm39)	T1826I	probably damaging	Het
Pkhd1l1	G	A	15: 44,408,766 (GRCm39)	A2418T	probably benign	Het
Pole2	A	G	12: 69,268,836 (GRCm39)	M111T	probably benign	Het
Ptprb	T	C	10: 116,193,200 (GRCm39)	S1901P	possibly damaging	Het
Rapgef1	G	A	2: 29,597,405 (GRCm39)	R588Q	probably damaging	Het
Tmed6	A	G	8: 107,792,069 (GRCm39)	F59L	probably damaging	Het
Xpo5	A	G	17: 46,531,757 (GRCm39)	D431G	probably damaging	Het

Other mutations in Idi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Idi2	APN	13	9,008,578 (GRCm39)	missense	probably damaging	1.00
R1635:Idi2	UTSW	13	9,009,455 (GRCm39)	missense	probably damaging	1.00
R4854:Idi2	UTSW	13	9,007,879 (GRCm39)	missense	probably benign	0.20
R5711:Idi2	UTSW	13	9,008,518 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- ACCCAGATACCAGGGAAGTG -3'
(R):5'- TCTGTAGACTGCAGCGGAAAAC -3'

Sequencing Primer
(F):5'- TGAGACGCTGCTGCTACATGAG -3'
(R):5'- CTGCAGCGGAAAACTTTTTAAGAGC -3'

Posted On

2015-02-05