Mutagenetix > Incidental Mutation

Incidental Mutation 'R5679:Rcl1'

442953

Institutional Source

Beutler Lab

Gene Symbol

Rcl1

Ensembl Gene

ENSMUSG00000024785

Gene Name

RNA terminal phosphate cyclase-like 1

Synonyms

RPCL1, 2310040A02Rik, Rnac

MMRRC Submission

043176-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5679 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29078761-29121251 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 29098658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067579 (fasta)

Gene Model

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

AlphaFold

Q9JJT0

Predicted Effect

probably null
Transcript: ENSMUST00000064393

SMART Domains

Protein: ENSMUSP00000067579
Gene: ENSMUSG00000024785

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

Predicted Effect

probably null
Transcript: ENSMUST00000064393

SMART Domains

Protein: ENSMUSP00000067579
Gene: ENSMUSG00000024785

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	G	A	11: 61,107,994 (GRCm39)	R346Q	probably benign	Het
Bcat1	A	T	6: 144,953,474 (GRCm39)	F304L	probably damaging	Het
Ccdc178	T	G	18: 22,200,486 (GRCm39)	K439N	probably benign	Het
Cdkn2a	T	C	4: 89,195,098 (GRCm39)	D84G	possibly damaging	Het
Chst8	T	A	7: 34,374,729 (GRCm39)	H370L	probably damaging	Het
Dimt1	A	G	13: 107,084,108 (GRCm39)	T32A	possibly damaging	Het
Dph6	T	C	2: 114,398,422 (GRCm39)	I162V	probably benign	Het
E230025N22Rik	C	T	18: 36,818,435 (GRCm39)	G465R	possibly damaging	Het
Fam3d	T	C	14: 8,349,305 (GRCm38)	E215G	probably damaging	Het
Fbxw7	T	A	3: 84,884,794 (GRCm39)	N612K	probably damaging	Het
Gpr179	A	G	11: 97,227,571 (GRCm39)	V1528A	probably benign	Het
Gucy2g	T	A	19: 55,219,511 (GRCm39)	K370N	possibly damaging	Het
Ipo13	A	T	4: 117,752,029 (GRCm39)	W903R	probably damaging	Het
Itgax	T	A	7: 127,734,162 (GRCm39)	H311Q	probably benign	Het
Kmt2d	T	C	15: 98,752,153 (GRCm39)		probably benign	Het
Lox	T	C	18: 52,661,989 (GRCm39)	N138S	probably benign	Het
Mre11a	T	A	9: 14,698,215 (GRCm39)	I21N	probably damaging	Het
Ncan	T	G	8: 70,565,276 (GRCm39)	Y217S	probably damaging	Het
Nfil3	A	G	13: 53,122,527 (GRCm39)	F126L	possibly damaging	Het
Nfu1	T	C	6: 86,996,379 (GRCm39)	V110A	probably damaging	Het
Or12e8	T	C	2: 87,187,889 (GRCm39)	F34L	possibly damaging	Het
Or5e1	A	G	7: 108,354,203 (GRCm39)	I47V	probably damaging	Het
Or5g9	A	T	2: 85,552,390 (GRCm39)	I214F	probably damaging	Het
Palld	T	C	8: 62,137,979 (GRCm39)	Q592R	possibly damaging	Het
Pcdhac1	T	A	18: 37,225,530 (GRCm39)	L781Q	probably damaging	Het
Saxo1	C	T	4: 86,363,272 (GRCm39)	V404I	possibly damaging	Het
Scrt1	T	A	15: 76,403,262 (GRCm39)	T243S	unknown	Het
Slc22a30	G	T	19: 8,313,135 (GRCm39)	T550K	possibly damaging	Het
Strc	A	G	2: 121,198,581 (GRCm39)	S1437P	probably benign	Het
Tecpr1	T	A	5: 144,144,241 (GRCm39)	I654F	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,377 (GRCm39)	M371V	probably benign	Het
Vmn2r11	T	C	5: 109,202,708 (GRCm39)	N123S	probably benign	Het
Wdr81	T	C	11: 75,343,749 (GRCm39)	D506G	probably damaging	Het
Xylt1	A	G	7: 117,242,877 (GRCm39)	D640G	probably damaging	Het
Zfp148	T	G	16: 33,316,156 (GRCm39)	M276R	probably damaging	Het
Zfp329	G	A	7: 12,543,958 (GRCm39)	T522I	probably damaging	Het

Other mutations in Rcl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Rcl1	APN	19	29,098,662 (GRCm39)	splice site	probably null
IGL01514:Rcl1	APN	19	29,120,698 (GRCm39)	utr 3 prime	probably benign
IGL02625:Rcl1	APN	19	29,095,741 (GRCm39)	missense	probably benign	0.04
R0512:Rcl1	UTSW	19	29,105,497 (GRCm39)	missense	probably damaging	1.00
R2249:Rcl1	UTSW	19	29,099,268 (GRCm39)	missense	possibly damaging	0.46
R3610:Rcl1	UTSW	19	29,095,630 (GRCm39)	missense	probably benign	0.00
R4415:Rcl1	UTSW	19	29,095,762 (GRCm39)	missense	probably benign	0.01
R5324:Rcl1	UTSW	19	29,105,401 (GRCm39)	missense	probably benign	0.23
R5988:Rcl1	UTSW	19	29,099,167 (GRCm39)	missense	probably damaging	1.00
R7332:Rcl1	UTSW	19	29,108,096 (GRCm39)	missense	probably benign	0.03
R7936:Rcl1	UTSW	19	29,095,805 (GRCm39)	splice site	probably null
R8353:Rcl1	UTSW	19	29,093,159 (GRCm39)	missense	possibly damaging	0.95
R8453:Rcl1	UTSW	19	29,093,159 (GRCm39)	missense	possibly damaging	0.95
R9282:Rcl1	UTSW	19	29,093,170 (GRCm39)	missense	probably damaging	0.99
R9747:Rcl1	UTSW	19	29,105,482 (GRCm39)	missense	probably damaging	0.98
Z1176:Rcl1	UTSW	19	29,079,017 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTGGCTTGCTCTGACCTGG -3'
(R):5'- GCCTCATCATATATCGCATGC -3'

Sequencing Primer
(F):5'- CCTGGAGAGGTACCAACTCTTTAAG -3'
(R):5'- ATATATCGCATGCTTCTTCCAATCAG -3'

Posted On

2016-11-09