Mutagenetix > Incidental Mutation

Incidental Mutation 'R0909:1810055G02Rik'

83448

Institutional Source

Beutler Lab

Gene Symbol

1810055G02Rik

Ensembl Gene

ENSMUSG00000035372

Gene Name

RIKEN cDNA 1810055G02 gene

Synonyms

MMRRC Submission

039067-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R0909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3758343-3767882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3765788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 21 (M21K)

Ref Sequence

ENSEMBL: ENSMUSP00000047063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039048]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039048
AA Change: M21K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047063
Gene: ENSMUSG00000035372
AA Change: M21K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	86	97	N/A	INTRINSIC
low complexity region	265	288	N/A	INTRINSIC
low complexity region	292	310	N/A	INTRINSIC
transmembrane domain	343	365	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.4%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3s2	T	C	7: 79,530,266 (GRCm39)	N183S	probably benign	Het
Cd109	A	G	9: 78,543,755 (GRCm39)	I100V	probably benign	Het
Cep170b	A	G	12: 112,698,473 (GRCm39)	K77R	probably null	Het
Chmp5	C	A	4: 40,960,968 (GRCm39)	N202K	probably benign	Het
Cnbd1	A	T	4: 19,122,444 (GRCm39)	L15I	probably benign	Het
Ehmt2	T	C	17: 35,125,480 (GRCm39)	V542A	possibly damaging	Het
Exosc9	A	T	3: 36,608,853 (GRCm39)	I151F	probably damaging	Het
Eya2	A	G	2: 165,596,413 (GRCm39)	N308S	probably benign	Het
Fbxw21	C	A	9: 108,985,476 (GRCm39)	A101S	possibly damaging	Het
Frem3	A	C	8: 81,390,035 (GRCm39)	N1762T	probably benign	Het
H2-DMb2	C	A	17: 34,367,783 (GRCm39)	T68N	probably benign	Het
Hbs1l	A	G	10: 21,183,637 (GRCm39)	E126G	probably benign	Het
Lrrc2	T	A	9: 110,791,741 (GRCm39)		probably null	Het
Mrpl44	G	A	1: 79,757,370 (GRCm39)	V272I	probably benign	Het
Msh4	G	A	3: 153,569,141 (GRCm39)	L723F	probably benign	Het
Nemf	T	A	12: 69,388,384 (GRCm39)	D329V	probably damaging	Het
Noxa1	A	T	2: 24,981,806 (GRCm39)	L99Q	probably damaging	Het
Nr6a1	A	T	2: 38,775,218 (GRCm39)	D44E	probably benign	Het
Obscn	T	C	11: 58,965,890 (GRCm39)	D3131G	probably damaging	Het
Or10a5	T	C	7: 106,635,401 (GRCm39)	I13T	probably benign	Het
Or10c1	T	G	17: 37,521,809 (GRCm39)	I312L	probably benign	Het
Or52p2	A	T	7: 102,237,654 (GRCm39)	C99S	probably damaging	Het
Pkhd1l1	T	A	15: 44,402,279 (GRCm39)		probably null	Het
Rbsn	G	A	6: 92,166,791 (GRCm39)	Q618*	probably null	Het
Rccd1	A	C	7: 79,968,799 (GRCm39)		probably null	Het
Scg2	T	A	1: 79,413,499 (GRCm39)	Q368L	possibly damaging	Het
Socs5	T	A	17: 87,441,201 (GRCm39)	L47Q	probably benign	Het
Ttc16	T	C	2: 32,652,880 (GRCm39)	T593A	probably benign	Het
Ube4a	T	C	9: 44,851,271 (GRCm39)	I748V	probably damaging	Het
Vipas39	T	C	12: 87,288,105 (GRCm39)	D435G	probably benign	Het
Vmn2r69	C	T	7: 85,055,873 (GRCm39)	G755D	probably benign	Het
Vsnl1	A	G	12: 11,376,372 (GRCm39)	F171S	probably damaging	Het
Wbp2nl	G	A	15: 82,198,275 (GRCm39)	A271T	probably benign	Het

Other mutations in 1810055G02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:1810055G02Rik	APN	19	3,767,040 (GRCm39)	missense	probably benign	0.02
IGL02883:1810055G02Rik	APN	19	3,766,972 (GRCm39)	missense	possibly damaging	0.83
R1482:1810055G02Rik	UTSW	19	3,767,192 (GRCm39)	missense	probably benign	0.01
R2158:1810055G02Rik	UTSW	19	3,766,608 (GRCm39)	missense	possibly damaging	0.46
R4833:1810055G02Rik	UTSW	19	3,766,872 (GRCm39)	missense	possibly damaging	0.87
R5012:1810055G02Rik	UTSW	19	3,767,217 (GRCm39)	missense	possibly damaging	0.92
R5557:1810055G02Rik	UTSW	19	3,767,501 (GRCm39)	missense	possibly damaging	0.66
R7411:1810055G02Rik	UTSW	19	3,767,241 (GRCm39)	missense	possibly damaging	0.92
R7573:1810055G02Rik	UTSW	19	3,765,728 (GRCm39)	start codon destroyed	probably null	0.04
R8164:1810055G02Rik	UTSW	19	3,767,454 (GRCm39)	missense	probably benign
R8265:1810055G02Rik	UTSW	19	3,766,568 (GRCm39)	missense	probably benign	0.00
R8781:1810055G02Rik	UTSW	19	3,767,538 (GRCm39)	missense	possibly damaging	0.90
R8906:1810055G02Rik	UTSW	19	3,766,686 (GRCm39)	missense	possibly damaging	0.82
R9224:1810055G02Rik	UTSW	19	3,767,100 (GRCm39)	missense	possibly damaging	0.66
R9614:1810055G02Rik	UTSW	19	3,767,364 (GRCm39)	missense	possibly damaging	0.92
R9712:1810055G02Rik	UTSW	19	3,765,784 (GRCm39)	missense	probably benign
X0026:1810055G02Rik	UTSW	19	3,766,826 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGTTTGCTGCCTCGAAAACAAACAC -3'
(R):5'- TGATGGAGGTGACACATGAGTCCAG -3'

Sequencing Primer
(F):5'- CCTGACCAAAACACCTTCTTCATC -3'
(R):5'- TGAGGCTGCACAGACATTC -3'

Posted On

2013-11-08