Mutagenetix > Incidental Mutation

Incidental Mutation 'R3012:E330009J07Rik'

257531

Institutional Source

Beutler Lab

Gene Symbol

E330009J07Rik

Ensembl Gene

ENSMUSG00000037172

Gene Name

RIKEN cDNA E330009J07 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R3012 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

40401375-40436135 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40435992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 45 (E45G)

Ref Sequence

ENSEMBL: ENSMUSP00000099031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039008] [ENSMUST00000101492] [ENSMUST00000201712] [ENSMUST00000202464]

AlphaFold

Q3UHG7

Predicted Effect

probably benign
Transcript: ENSMUST00000039008
AA Change: E45G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045103
Gene: ENSMUSG00000037172
AA Change: E45G

Domain	Start	End	E-Value	Type
low complexity region	30	60	N/A	INTRINSIC
Pfam:DUF2347	80	347	3.4e-79	PFAM
Pfam:SPA	234	345	5.2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101492
AA Change: E45G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099031
Gene: ENSMUSG00000037172
AA Change: E45G

Domain	Start	End	E-Value	Type
low complexity region	30	60	N/A	INTRINSIC
Pfam:DUF2347	80	347	3.2e-78	PFAM
Pfam:SPA	234	345	6.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200994

Predicted Effect

probably benign
Transcript: ENSMUST00000201712

SMART Domains

Protein: ENSMUSP00000143916
Gene: ENSMUSG00000037172

Domain	Start	End	E-Value	Type
Pfam:DUF2347	15	133	1.4e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202464

SMART Domains

Protein: ENSMUSP00000144628
Gene: ENSMUSG00000037159

Domain	Start	End	E-Value	Type
low complexity region	117	128	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	G	T	19: 40,557,691	Y585*	probably null	Het
Ankrd17	G	A	5: 90,230,868	P2563S	probably damaging	Het
Atg10	A	T	13: 91,154,278	F47Y	probably damaging	Het
Ccdc39	C	T	3: 33,814,668	R798Q	probably damaging	Het
Cfi	A	G	3: 129,874,930	D535G	probably damaging	Het
Dgat1	T	A	15: 76,503,393	Q308H	possibly damaging	Het
Dsp	T	C	13: 38,193,342	I1701T	possibly damaging	Het
Egr2	GAA	GA	10: 67,539,903		probably null	Het
Fes	G	C	7: 80,387,167	S56R	possibly damaging	Het
Gria1	G	A	11: 57,289,434	V737M	probably damaging	Het
Gtf2h1	A	G	7: 46,803,895	H84R	probably damaging	Het
Ifi208	A	G	1: 173,695,570		probably null	Het
Il15	T	A	8: 82,344,420	N22I	probably damaging	Het
Me1	A	G	9: 86,611,912	S323P	probably benign	Het
Olfr713	T	C	7: 107,036,362	F69S	possibly damaging	Het
Parp4	T	C	14: 56,595,416		probably null	Het
Pcdhga7	A	G	18: 37,715,638	T233A	probably benign	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rpe65	G	T	3: 159,604,563	V128F	possibly damaging	Het
Slc5a11	GGTGC	G	7: 123,239,372		probably null	Het
Tbc1d32	A	G	10: 56,173,915	V509A	probably benign	Het
Tln1	T	A	4: 43,542,525	T1428S	probably benign	Het
Ttc27	A	T	17: 74,840,459	I669F	probably benign	Het
Tubb3	T	G	8: 123,421,236	C303G	probably damaging	Het
Tulp2	G	T	7: 45,518,763	V188L	probably damaging	Het
Zfr	T	C	15: 12,166,163	Y840H	probably damaging	Het

Other mutations in E330009J07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02813:E330009J07Rik	APN	6	40418539	missense	probably benign	0.00
IGL03143:E330009J07Rik	APN	6	40422894	splice site	probably benign
R1812:E330009J07Rik	UTSW	6	40409431	missense	probably benign	0.02
R1928:E330009J07Rik	UTSW	6	40411714	missense	probably benign	0.14
R2443:E330009J07Rik	UTSW	6	40406776	missense	probably damaging	0.99
R6913:E330009J07Rik	UTSW	6	40406917	missense	possibly damaging	0.91
R7318:E330009J07Rik	UTSW	6	40409164	missense	possibly damaging	0.72
R7456:E330009J07Rik	UTSW	6	40406840	missense	probably benign	0.33
R8087:E330009J07Rik	UTSW	6	40418592	missense	possibly damaging	0.94
R8231:E330009J07Rik	UTSW	6	40418612	missense	probably benign	0.35
R8776:E330009J07Rik	UTSW	6	40418841	intron	probably benign
R8858:E330009J07Rik	UTSW	6	40422735	missense	probably benign	0.02
Y4340:E330009J07Rik	UTSW	6	40436058	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAACCCAGTGTGCAGTCTCC -3'
(R):5'- CCCTACACTATGGATCAAGAGC -3'

Sequencing Primer
(F):5'- AGTGTGCAGTCTCCCCCAC -3'
(R):5'- CCACATACAGAGATGCAGAGCTG -3'

Posted On

2015-01-11