Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00561:2310002L09Rik'

6648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2310002L09Rik

Ensembl Gene

ENSMUSG00000028396

Gene Name

RIKEN cDNA 2310002L09 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL00561

Quality Score

Status

Chromosome

Chromosomal Location

73857608-73869083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73860956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 215 (T215S)

Ref Sequence

ENSEMBL: ENSMUSP00000092633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030101] [ENSMUST00000095023]

AlphaFold

Q9D7L5

Predicted Effect

probably benign
Transcript: ENSMUST00000030101

SMART Domains

Protein: ENSMUSP00000030101
Gene: ENSMUSG00000028396

Domain	Start	End	E-Value	Type
transmembrane domain	173	195	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095023
AA Change: T215S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092633
Gene: ENSMUSG00000028396
AA Change: T215S

Domain	Start	End	E-Value	Type
transmembrane domain	174	196	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149981

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl6b	T	C	11: 70,119,310 (GRCm39)		probably benign	Het
C8a	G	A	4: 104,722,642 (GRCm39)		probably benign	Het
Cep152	G	A	2: 125,405,643 (GRCm39)	Q1630*	probably null	Het
Dnah6	T	C	6: 73,172,603 (GRCm39)	N285S	possibly damaging	Het
Elovl5	G	A	9: 77,868,256 (GRCm39)	R56Q	probably benign	Het
Fcf1	T	C	12: 85,019,835 (GRCm39)	V36A	probably benign	Het
Gdf3	A	G	6: 122,584,085 (GRCm39)	L94P	probably damaging	Het
Kcnt2	A	T	1: 140,450,836 (GRCm39)	H705L	probably damaging	Het
Ly75	A	T	2: 60,206,421 (GRCm39)	C83S	probably damaging	Het
Med12l	T	A	3: 59,135,245 (GRCm39)	S798T	probably benign	Het
Morc3	G	T	16: 93,670,283 (GRCm39)		probably null	Het
Neb	A	T	2: 52,096,117 (GRCm39)	N1049K	probably benign	Het
Nlrp6	A	G	7: 140,503,037 (GRCm39)	D381G	probably damaging	Het
Pcnx1	A	T	12: 82,042,827 (GRCm39)	D2303V	probably damaging	Het
Prss45	A	T	9: 110,669,578 (GRCm39)	N227I	probably damaging	Het
Rbbp6	G	A	7: 122,570,286 (GRCm39)	M34I	probably damaging	Het
Slc30a7	T	C	3: 115,740,369 (GRCm39)		probably null	Het
Smpdl3a	T	C	10: 57,684,042 (GRCm39)	Y267H	probably benign	Het
Snw1	A	G	12: 87,497,574 (GRCm39)		probably null	Het
Sp140	G	A	1: 85,549,393 (GRCm39)	R208K	probably benign	Het
Tbx19	A	G	1: 164,987,968 (GRCm39)	V55A	probably benign	Het
Tmem131	A	G	1: 36,850,508 (GRCm39)	S1059P	probably damaging	Het
Tpo	G	A	12: 30,134,619 (GRCm39)	P780S	probably damaging	Het
Ttn	G	A	2: 76,570,055 (GRCm39)	T26946M	probably damaging	Het
Vps33b	A	G	7: 79,935,591 (GRCm39)	E372G	probably damaging	Het
Vwf	T	C	6: 125,619,684 (GRCm39)	V1454A	possibly damaging	Het
Zbbx	C	T	3: 74,968,839 (GRCm39)		probably null	Het
Zfp747l1	T	A	7: 126,985,716 (GRCm39)		probably benign	Het

Other mutations in 2310002L09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:2310002L09Rik	APN	4	73,868,937 (GRCm39)	utr 5 prime	probably benign
IGL02596:2310002L09Rik	APN	4	73,868,904 (GRCm39)	missense	possibly damaging	0.94
R0841:2310002L09Rik	UTSW	4	73,860,986 (GRCm39)	missense	probably benign
R2919:2310002L09Rik	UTSW	4	73,868,845 (GRCm39)	missense	probably damaging	1.00
R6056:2310002L09Rik	UTSW	4	73,861,115 (GRCm39)	missense	probably benign	0.00
R6795:2310002L09Rik	UTSW	4	73,869,065 (GRCm39)	start gained	probably benign
R6889:2310002L09Rik	UTSW	4	73,861,290 (GRCm39)	missense	probably benign	0.19
R7709:2310002L09Rik	UTSW	4	73,861,091 (GRCm39)	missense	possibly damaging	0.52
R7793:2310002L09Rik	UTSW	4	73,861,172 (GRCm39)	missense	probably benign	0.05
R8517:2310002L09Rik	UTSW	4	73,861,206 (GRCm39)	missense	probably damaging	1.00
R8671:2310002L09Rik	UTSW	4	73,861,166 (GRCm39)	missense	probably damaging	1.00
R8867:2310002L09Rik	UTSW	4	73,861,087 (GRCm39)	missense	probably damaging	1.00
R8938:2310002L09Rik	UTSW	4	73,861,424 (GRCm39)	missense	probably damaging	1.00
R9618:2310002L09Rik	UTSW	4	73,868,934 (GRCm39)	start codon destroyed	probably null	0.46

Posted On

2012-04-20