Mutagenetix > Incidental Mutation

Incidental Mutation 'R2445:4930562C15Rik'

250560

Institutional Source

Beutler Lab

Gene Symbol

4930562C15Rik

Ensembl Gene

ENSMUSG00000022518

Gene Name

RIKEN cDNA 4930562C15 gene

Synonyms

Accession Numbers

Ncbi RefSeq: NM_030192.1; MGI:1926059

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R2445 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4835416-4867686 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 4864397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100211] [ENSMUST00000100211] [ENSMUST00000171105] [ENSMUST00000176394] [ENSMUST00000176982]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000100211

SMART Domains

Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
coiled coil region	181	211	N/A	INTRINSIC
internal_repeat_1	289	315	2.54e-5	PROSPERO
internal_repeat_1	314	341	2.54e-5	PROSPERO
low complexity region	360	377	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC
low complexity region	573	604	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	652	672	N/A	INTRINSIC
Pfam:DUF4795	745	960	1.7e-46	PFAM
low complexity region	1095	1109	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000100211

SMART Domains

Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
coiled coil region	181	211	N/A	INTRINSIC
internal_repeat_1	289	315	2.54e-5	PROSPERO
internal_repeat_1	314	341	2.54e-5	PROSPERO
low complexity region	360	377	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC
low complexity region	573	604	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	652	672	N/A	INTRINSIC
Pfam:DUF4795	745	960	1.7e-46	PFAM
low complexity region	1095	1109	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000171105

SMART Domains

Protein: ENSMUSP00000127814
Gene: ENSMUSG00000022518

Domain	Start	End	E-Value	Type
Pfam:DUF4795	37	125	1.1e-20	PFAM
low complexity region	256	270	N/A	INTRINSIC
low complexity region	272	286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175762

Predicted Effect

probably benign
Transcript: ENSMUST00000176394

Predicted Effect

probably benign
Transcript: ENSMUST00000176982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180939

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Akr1b3	G	T	6: 34,310,934	D163E	probably benign	Het
D130043K22Rik	A	G	13: 24,857,036	D147G	probably benign	Het
F5	T	C	1: 164,190,226	F624S	probably damaging	Het
Gpr182	T	C	10: 127,750,627	T152A	probably benign	Het
Ifna13	A	T	4: 88,643,896	W164R	probably damaging	Het
Lsg1	C	A	16: 30,564,695	R569L	probably benign	Het
Mmp27	T	C	9: 7,581,181	S456P	probably benign	Het
Naip6	A	G	13: 100,300,668	V449A	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1130	T	C	2: 87,607,958	I190T	probably damaging	Het
Ptpn23	G	T	9: 110,387,632	P1052Q	possibly damaging	Het
Sacs	A	G	14: 61,205,206	H1567R	probably damaging	Het
Slc30a7	A	T	3: 115,978,653	I280K	probably damaging	Het
Slc6a18	A	T	13: 73,666,752	C15*	probably null	Het
Tnrc18	T	A	5: 142,772,115	I884F	unknown	Het
Trav6d-3	G	A	14: 52,726,828	A83T	probably damaging	Het
Zgpat	C	A	2: 181,366,160	C163*	probably null	Het

Other mutations in 4930562C15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00936:4930562C15Rik	APN	16	4864646	missense	probably benign	0.31
IGL01610:4930562C15Rik	APN	16	4851565	splice site	probably benign
IGL02869:4930562C15Rik	APN	16	4867459	missense	possibly damaging	0.68
IGL03242:4930562C15Rik	APN	16	4849325	missense	unknown
R0063:4930562C15Rik	UTSW	16	4861048	nonsense	probably null
R0063:4930562C15Rik	UTSW	16	4861048	nonsense	probably null
R0083:4930562C15Rik	UTSW	16	4849542	missense	unknown
R0565:4930562C15Rik	UTSW	16	4864336	missense	probably benign	0.22
R0630:4930562C15Rik	UTSW	16	4850939	missense	possibly damaging	0.90
R0734:4930562C15Rik	UTSW	16	4850334	missense	probably benign	0.01
R1200:4930562C15Rik	UTSW	16	4849672	missense	unknown
R1738:4930562C15Rik	UTSW	16	4864611	missense	probably damaging	1.00
R1775:4930562C15Rik	UTSW	16	4851558	splice site	probably null
R1945:4930562C15Rik	UTSW	16	4835685	missense	unknown
R2132:4930562C15Rik	UTSW	16	4835971	missense	unknown
R2696:4930562C15Rik	UTSW	16	4850364	missense	probably benign	0.04
R4729:4930562C15Rik	UTSW	16	4849323	missense	unknown
R4779:4930562C15Rik	UTSW	16	4849749	missense	unknown
R4806:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4808:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4876:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4931:4930562C15Rik	UTSW	16	4861046	missense	possibly damaging	0.47
R4956:4930562C15Rik	UTSW	16	4854952	missense	probably damaging	0.99
R5085:4930562C15Rik	UTSW	16	4835973	nonsense	probably null
R5203:4930562C15Rik	UTSW	16	4835598	missense	unknown
R5229:4930562C15Rik	UTSW	16	4850051	missense	possibly damaging	0.73
R5461:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5462:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5464:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5595:4930562C15Rik	UTSW	16	4864279	missense	probably benign	0.01
R6054:4930562C15Rik	UTSW	16	4835865	missense	unknown
R6405:4930562C15Rik	UTSW	16	4851878	missense	probably damaging	0.97
R6859:4930562C15Rik	UTSW	16	4851935	missense	possibly damaging	0.86
R7124:4930562C15Rik	UTSW	16	4864332	missense	probably benign	0.02
R7139:4930562C15Rik	UTSW	16	4850184	missense	probably benign	0.00
R7182:4930562C15Rik	UTSW	16	4849714	missense	unknown
R7219:4930562C15Rik	UTSW	16	4849644	missense	unknown
R7366:4930562C15Rik	UTSW	16	4835769	missense	unknown
R7592:4930562C15Rik	UTSW	16	4849274	missense	unknown
R7759:4930562C15Rik	UTSW	16	4864650	missense	probably benign	0.01
R7789:4930562C15Rik	UTSW	16	4864311	missense	probably benign	0.01
R7873:4930562C15Rik	UTSW	16	4866227	missense	probably benign
R7916:4930562C15Rik	UTSW	16	4864590	nonsense	probably null
R8093:4930562C15Rik	UTSW	16	4851504	missense	possibly damaging	0.86
R8169:4930562C15Rik	UTSW	16	4866218	missense	probably benign	0.00
R8278:4930562C15Rik	UTSW	16	4850176	missense	probably benign	0.33
R8372:4930562C15Rik	UTSW	16	4864288	missense	probably damaging	0.99
R8493:4930562C15Rik	UTSW	16	4835589	start codon destroyed	unknown
R8549:4930562C15Rik	UTSW	16	4863197	critical splice donor site	probably null
R8947:4930562C15Rik	UTSW	16	4847428	missense	unknown
R9137:4930562C15Rik	UTSW	16	4867448	missense	probably benign
R9339:4930562C15Rik	UTSW	16	4849657	missense	unknown
R9422:4930562C15Rik	UTSW	16	4849289	missense
R9561:4930562C15Rik	UTSW	16	4863116	missense	possibly damaging	0.52
X0028:4930562C15Rik	UTSW	16	4867367	missense	possibly damaging	0.83
Z1176:4930562C15Rik	UTSW	16	4866248	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- GGGAACAACAGCAGCATCTG -3'
(R):5'- GCCTTTGTACAGAACTCCATCTAC -3'

Sequencing Primer
(F):5'- AGCATCTGCATTTCCAGAACTTTGG -3'
(R):5'- AAGATGTCCACCTCAGCCTGTG -3'

Posted On

2014-11-12