Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02861:4930486L24Rik'

362177

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930486L24Rik

Ensembl Gene

ENSMUSG00000050345

Gene Name

RIKEN cDNA 4930486L24 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02861

Quality Score

Status

Chromosome

Chromosomal Location

60990426-61012230 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 61001146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091569] [ENSMUST00000225690]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000091569

SMART Domains

Protein: ENSMUSP00000089157
Gene: ENSMUSG00000050345

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Inhibitor_I29	29	88	1e-19	SMART
Pept_C1	114	332	7.93e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000225382

Predicted Effect

probably benign
Transcript: ENSMUST00000225690

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,876,863 (GRCm39)	R157H	probably damaging	Het
Amer3	A	G	1: 34,627,206 (GRCm39)	K482E	probably damaging	Het
Ankrd11	A	T	8: 123,622,566 (GRCm39)	S429T	probably damaging	Het
Ano3	T	A	2: 110,569,157 (GRCm39)	N125I	probably damaging	Het
BC106179	T	A	16: 23,042,746 (GRCm39)		probably benign	Het
Bclaf3	T	C	X: 158,338,524 (GRCm39)	I457T	possibly damaging	Het
Cbr3	T	G	16: 93,482,007 (GRCm39)	V121G	probably damaging	Het
Cd44	A	G	2: 102,662,826 (GRCm39)		probably null	Het
Cd72	G	A	4: 43,448,332 (GRCm39)	A316V	probably benign	Het
Cdc27	A	T	11: 104,413,657 (GRCm39)		probably benign	Het
Cdon	A	T	9: 35,398,253 (GRCm39)	Q990L	probably damaging	Het
Clk2	T	C	3: 89,080,706 (GRCm39)	W231R	probably damaging	Het
Cpsf2	G	A	12: 101,965,825 (GRCm39)	V597I	probably benign	Het
D630003M21Rik	A	G	2: 158,042,918 (GRCm39)	V874A	probably benign	Het
Daam2	A	G	17: 49,776,455 (GRCm39)	F811L	probably damaging	Het
Ddx54	T	C	5: 120,756,195 (GRCm39)		probably benign	Het
Dysf	T	A	6: 84,016,519 (GRCm39)	L59Q	probably damaging	Het
Eps8	A	G	6: 137,476,597 (GRCm39)	Y601H	probably damaging	Het
Faf2	T	C	13: 54,796,235 (GRCm39)	Y131H	probably damaging	Het
Hectd4	T	A	5: 121,445,067 (GRCm39)	D101E	possibly damaging	Het
Hk2	T	C	6: 82,737,139 (GRCm39)	T30A	possibly damaging	Het
Il27	A	T	7: 126,191,821 (GRCm39)	L77Q	probably damaging	Het
Klhdc1	T	A	12: 69,298,225 (GRCm39)	V83D	possibly damaging	Het
Manba	T	G	3: 135,276,024 (GRCm39)	S822A	probably benign	Het
Mterf2	A	C	10: 84,956,195 (GRCm39)	V143G	probably damaging	Het
Ncapd3	A	G	9: 26,981,195 (GRCm39)	D895G	probably benign	Het
Or4c115	T	A	2: 88,927,801 (GRCm39)	I157L	probably benign	Het
Or6n1	T	A	1: 173,916,602 (GRCm39)		probably benign	Het
Panx1	T	C	9: 14,919,101 (GRCm39)	K253E	probably benign	Het
Phc1	T	A	6: 122,300,748 (GRCm39)		probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ptchd4	A	G	17: 42,688,208 (GRCm39)	E250G	probably damaging	Het
Rp1	G	T	1: 4,416,375 (GRCm39)	S1579*	probably null	Het
Rrp1	A	G	10: 78,245,056 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,483,186 (GRCm39)	L4187P	possibly damaging	Het
Serpinc1	A	T	1: 160,827,561 (GRCm39)	I387F	probably damaging	Het
Slc2a7	G	A	4: 150,252,836 (GRCm39)	C492Y	probably benign	Het
Slf1	A	G	13: 77,274,478 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,039,164 (GRCm39)	L1169Q	probably damaging	Het
Stap1	T	A	5: 86,219,824 (GRCm39)		probably benign	Het
Taf6	A	G	5: 138,182,147 (GRCm39)	L66P	probably damaging	Het
Ttn	T	C	2: 76,632,841 (GRCm39)	E14071G	probably damaging	Het
Unk	A	G	11: 115,947,125 (GRCm39)	H586R	possibly damaging	Het
Zfpm2	A	C	15: 40,966,662 (GRCm39)	K917T	probably damaging	Het

Other mutations in 4930486L24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:4930486L24Rik	APN	13	61,002,673 (GRCm39)	missense	probably benign	0.00
IGL01325:4930486L24Rik	APN	13	61,001,347 (GRCm39)	missense	probably damaging	1.00
IGL02290:4930486L24Rik	APN	13	61,001,344 (GRCm39)	missense	probably damaging	1.00
PIT4514001:4930486L24Rik	UTSW	13	61,001,328 (GRCm39)	critical splice donor site	probably null
R0110:4930486L24Rik	UTSW	13	61,001,320 (GRCm39)	splice site	probably benign
R1396:4930486L24Rik	UTSW	13	61,001,057 (GRCm39)	missense	probably benign	0.00
R1471:4930486L24Rik	UTSW	13	61,001,336 (GRCm39)	missense	probably damaging	1.00
R1688:4930486L24Rik	UTSW	13	61,002,695 (GRCm39)	missense	probably benign	0.00
R1697:4930486L24Rik	UTSW	13	60,992,928 (GRCm39)	missense	probably damaging	1.00
R3838:4930486L24Rik	UTSW	13	60,993,041 (GRCm39)	missense	probably damaging	1.00
R4714:4930486L24Rik	UTSW	13	60,992,132 (GRCm39)	missense	probably damaging	1.00
R4976:4930486L24Rik	UTSW	13	61,001,387 (GRCm39)	nonsense	probably null
R5072:4930486L24Rik	UTSW	13	61,001,414 (GRCm39)	missense	probably benign	0.00
R5107:4930486L24Rik	UTSW	13	61,001,472 (GRCm39)	missense	possibly damaging	0.62
R5699:4930486L24Rik	UTSW	13	61,001,410 (GRCm39)	missense	possibly damaging	0.92
R6092:4930486L24Rik	UTSW	13	61,001,461 (GRCm39)	missense	probably benign	0.01
R6787:4930486L24Rik	UTSW	13	61,000,922 (GRCm39)	missense	probably benign
R6800:4930486L24Rik	UTSW	13	60,992,948 (GRCm39)	missense	probably damaging	1.00
R7349:4930486L24Rik	UTSW	13	60,990,717 (GRCm39)	missense	possibly damaging	0.52
R7390:4930486L24Rik	UTSW	13	60,992,152 (GRCm39)	missense	probably benign	0.00
R7580:4930486L24Rik	UTSW	13	60,993,040 (GRCm39)	missense	probably damaging	0.97
R7589:4930486L24Rik	UTSW	13	60,990,747 (GRCm39)	missense	probably damaging	1.00
R9304:4930486L24Rik	UTSW	13	61,001,352 (GRCm39)	missense	probably damaging	0.98
R9340:4930486L24Rik	UTSW	13	61,001,647 (GRCm39)	missense	probably benign	0.20
R9485:4930486L24Rik	UTSW	13	61,001,059 (GRCm39)	missense	possibly damaging	0.88
R9489:4930486L24Rik	UTSW	13	61,002,683 (GRCm39)	missense	probably damaging	1.00
R9798:4930486L24Rik	UTSW	13	61,000,934 (GRCm39)	missense	possibly damaging	0.69

Posted On

2015-12-18