Mutagenetix > Incidental Mutations

Incidental Mutation 'R2249:Rcl1'

240812

Institutional Source

Beutler Lab

Gene Symbol

Rcl1

Ensembl Gene

ENSMUSG00000024785

Gene Name

RNA terminal phosphate cyclase-like 1

Synonyms

2310040A02Rik, Rnac, RPCL1

MMRRC Submission

040249-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R2249 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

29101375-29143843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29121868 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 188 (I188F)

Ref Sequence

ENSEMBL: ENSMUSP00000067579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064393]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064393
AA Change: I188F

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000067579
Gene: ENSMUSG00000024785
AA Change: I188F

Domain	Start	End	E-Value	Type
Pfam:RTC	8	341	1.3e-61	PFAM
Pfam:RTC_insert	184	289	1.8e-37	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	T	C	10: 22,067,116	I322V	possibly damaging	Het
5330417C22Rik	A	T	3: 108,471,410	Y409*	probably null	Het
Acvr1b	G	A	15: 101,203,094	R379Q	probably null	Het
Adam23	C	T	1: 63,535,176	Q276*	probably null	Het
Apob	A	T	12: 8,007,499	S1961C	probably damaging	Het
Atxn7l1	C	T	12: 33,358,840	P334S	probably damaging	Het
Ccnb1	T	C	13: 100,781,319	M258V	possibly damaging	Het
Cd34	A	C	1: 194,947,952	T65P	possibly damaging	Het
Cog6	A	G	3: 53,000,479		probably null	Het
Cp	T	C	3: 19,987,570	M953T	probably damaging	Het
Cwc27	C	T	13: 104,631,622	R455Q	unknown	Het
Dhx57	A	T	17: 80,281,234	D63E	probably damaging	Het
Flt4	T	A	11: 49,645,959	M1252K	possibly damaging	Het
Gfral	C	T	9: 76,193,349	C269Y	probably damaging	Het
Itih4	C	T	14: 30,899,394	Q788*	probably null	Het
Kif18b	A	G	11: 102,912,388	S499P	probably benign	Het
Map1a	G	C	2: 121,300,287	R528P	probably damaging	Het
Map3k5	T	C	10: 20,127,697	F1152L	probably damaging	Het
Marveld2	T	C	13: 100,612,091	D160G	probably benign	Het
Mug1	A	T	6: 121,870,510	M616L	probably benign	Het
Ndst4	A	T	3: 125,438,174	I131F	probably benign	Het
Neto1	G	T	18: 86,461,274	A196S	probably benign	Het
Notum	A	G	11: 120,654,411	F441L	probably benign	Het
Nsmce4a	A	G	7: 130,539,039	I239T	probably benign	Het
Olfr1090	A	G	2: 86,754,054	M228T	probably damaging	Het
Olfr1161	A	T	2: 88,025,363	I214F	probably damaging	Het
Olfr578	A	T	7: 102,984,440	N241K	possibly damaging	Het
Olfr619	T	A	7: 103,603,736	D27E	probably benign	Het
Olfr750	T	A	14: 51,070,413	K327*	probably null	Het
Olfr986	A	T	9: 40,187,684	T190S	possibly damaging	Het
Pde4dip	A	T	3: 97,793,525	V221D	probably damaging	Het
Pkp1	T	C	1: 135,880,807	Y474C	probably damaging	Het
Ptk6	A	C	2: 181,196,380	H363Q	probably benign	Het
Rb1cc1	T	C	1: 6,272,724	W187R	probably damaging	Het
Rbfox3	A	T	11: 118,503,738	F132L	probably damaging	Het
Scfd1	T	A	12: 51,415,516	S385T	possibly damaging	Het
Sema6d	A	G	2: 124,659,588	E483G	possibly damaging	Het
Sipa1l1	T	C	12: 82,342,116	V372A	probably benign	Het
Slc17a6	G	A	7: 51,667,906	G429D	probably damaging	Het
Slc22a5	A	G	11: 53,883,706	V151A	possibly damaging	Het
Soga1	A	T	2: 157,040,093	C680S	probably benign	Het
Spidr	T	C	16: 16,118,923	D106G	probably damaging	Het
Tekt3	A	T	11: 63,083,952	T366S	probably benign	Het
Trpm3	T	C	19: 22,733,034	M281T	probably benign	Het
Ttn	A	G	2: 76,952,141	V917A	probably damaging	Het
Tubgcp4	A	T	2: 121,183,629	D221V	possibly damaging	Het
Ubr4	C	T	4: 139,448,921	R3153W	probably damaging	Het
Vmn1r89	A	C	7: 13,220,260	T308P	possibly damaging	Het
Vmn2r59	A	G	7: 42,058,902	I27T	probably benign	Het
Vps13c	T	G	9: 67,988,053		probably null	Het
Zfp142	A	G	1: 74,567,032	V1793A	probably damaging	Het
Zfp472	T	A	17: 32,978,135	C395S	possibly damaging	Het

Other mutations in Rcl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Rcl1	APN	19	29121262	splice site	probably null
IGL01514:Rcl1	APN	19	29143298	utr 3 prime	probably benign
IGL02625:Rcl1	APN	19	29118341	missense	probably benign	0.04
R0512:Rcl1	UTSW	19	29128097	missense	probably damaging	1.00
R3610:Rcl1	UTSW	19	29118230	missense	probably benign	0.00
R4415:Rcl1	UTSW	19	29118362	missense	probably benign	0.01
R5324:Rcl1	UTSW	19	29128001	missense	probably benign	0.23
R5679:Rcl1	UTSW	19	29121258	splice site	probably null
R5988:Rcl1	UTSW	19	29121767	missense	probably damaging	1.00
R7332:Rcl1	UTSW	19	29130696	missense	probably benign	0.03
R8353:Rcl1	UTSW	19	29115759	missense	possibly damaging	0.95
Z1176:Rcl1	UTSW	19	29101617	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGTGCCTTCAAAGCCCCATAG -3'
(R):5'- CAGAATTATTGCCTTCCCCAGAC -3'

Sequencing Primer
(F):5'- AGCCCCATAGGAATGATTTAGCCTTC -3'
(R):5'- CCCCAGACACTGTAGTATTAAGTG -3'

Posted On

2014-10-15