Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02618:2700097O09Rik'

300741

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2700097O09Rik

Ensembl Gene

ENSMUSG00000062198

Gene Name

RIKEN cDNA 2700097O09 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL02618

Quality Score

Status

Chromosome

Chromosomal Location

55092446-55126895 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 55104086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 178 (Q178*)

Ref Sequence

ENSEMBL: ENSMUSP00000021406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021406]

AlphaFold

Q6PGK3

Predicted Effect

probably null
Transcript: ENSMUST00000021406
AA Change: Q178*

SMART Domains

Protein: ENSMUSP00000021406
Gene: ENSMUSG00000062198
AA Change: Q178*

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_18	143	253	3.1e-8	PFAM
Pfam:CheR	172	269	7.5e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222572

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,751,021 (GRCm39)	V565E	possibly damaging	Het
Arfgef2	C	A	2: 166,695,233 (GRCm39)	N535K	probably damaging	Het
Bbx	A	G	16: 50,068,161 (GRCm39)	L161S	probably damaging	Het
Bclaf1	T	C	10: 20,199,274 (GRCm39)	S224P	probably damaging	Het
Car2	A	G	3: 14,963,032 (GRCm39)	D189G	probably benign	Het
Catsperb	A	T	12: 101,446,983 (GRCm39)		probably benign	Het
Ccdc88c	C	T	12: 100,879,812 (GRCm39)	V1770I	probably benign	Het
Cebpe	T	C	14: 54,948,234 (GRCm39)	D203G	probably damaging	Het
Chn2	A	G	6: 54,197,422 (GRCm39)	N104S	probably damaging	Het
Clec2i	G	A	6: 128,873,464 (GRCm39)	C231Y	probably damaging	Het
Col4a5	C	T	X: 140,466,678 (GRCm39)	P1557S	probably damaging	Het
Creb3l1	T	C	2: 91,813,543 (GRCm39)	N498S	probably benign	Het
Ctnnal1	A	T	4: 56,817,060 (GRCm39)	D587E	probably benign	Het
Dnmt3l	T	C	10: 77,889,856 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,971,265 (GRCm39)	V100A	probably benign	Het
Frk	C	T	10: 34,459,960 (GRCm39)	T185I	possibly damaging	Het
Frmd4b	G	A	6: 97,285,066 (GRCm39)	Q340*	probably null	Het
Lima1	C	A	15: 99,700,097 (GRCm39)		probably benign	Het
Mtcl2	A	G	2: 156,882,486 (GRCm39)	L522P	probably damaging	Het
Ndrg1	G	A	15: 66,812,086 (GRCm39)	H202Y	probably benign	Het
Nxpe2	T	G	9: 48,237,634 (GRCm39)	N207T	probably damaging	Het
Or5ac19	A	T	16: 59,089,290 (GRCm39)	S247T	probably damaging	Het
Pdzph1	T	C	17: 59,186,068 (GRCm39)		probably benign	Het
Pinx1	A	G	14: 64,105,969 (GRCm39)	D75G	probably damaging	Het
Plxdc1	A	T	11: 97,823,130 (GRCm39)	D370E	probably benign	Het
Polb	A	T	8: 23,127,109 (GRCm39)	L228Q	probably damaging	Het
Rab3gap2	T	A	1: 184,983,938 (GRCm39)	I521N	possibly damaging	Het
Rapgef1	A	G	2: 29,627,955 (GRCm39)	D1045G	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Src	A	T	2: 157,306,698 (GRCm39)	K234*	probably null	Het
Stk36	C	A	1: 74,670,834 (GRCm39)		probably benign	Het
Ttll6	G	T	11: 96,038,388 (GRCm39)	C412F	probably benign	Het
Zfp58	A	G	13: 67,639,475 (GRCm39)	F339L	possibly damaging	Het

Other mutations in 2700097O09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:2700097O09Rik	APN	12	55,095,748 (GRCm39)	missense	probably damaging	1.00
IGL03340:2700097O09Rik	APN	12	55,126,786 (GRCm39)	missense	probably benign	0.10
R0844:2700097O09Rik	UTSW	12	55,126,858 (GRCm39)	missense	possibly damaging	0.62
R1489:2700097O09Rik	UTSW	12	55,106,295 (GRCm39)	missense	possibly damaging	0.94
R4722:2700097O09Rik	UTSW	12	55,107,922 (GRCm39)	missense	probably benign	0.24
R4786:2700097O09Rik	UTSW	12	55,106,321 (GRCm39)	missense	possibly damaging	0.88
R4981:2700097O09Rik	UTSW	12	55,095,772 (GRCm39)	splice site	probably null
R5216:2700097O09Rik	UTSW	12	55,107,947 (GRCm39)	missense	probably damaging	1.00
R6787:2700097O09Rik	UTSW	12	55,126,768 (GRCm39)	missense	probably benign	0.06
R7014:2700097O09Rik	UTSW	12	55,092,727 (GRCm39)	missense	probably benign
R7895:2700097O09Rik	UTSW	12	55,106,295 (GRCm39)	missense	probably benign	0.03
R8688:2700097O09Rik	UTSW	12	55,104,136 (GRCm39)	missense	probably damaging	1.00
R8690:2700097O09Rik	UTSW	12	55,107,957 (GRCm39)	missense	possibly damaging	0.89
R9564:2700097O09Rik	UTSW	12	55,104,090 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16