Mutagenetix > Incidental Mutation

Incidental Mutation 'R7936:Rcl1'

656328

Institutional Source

Beutler Lab

Gene Symbol

Rcl1

Ensembl Gene

ENSMUSG00000024785

Gene Name

RNA terminal phosphate cyclase-like 1

Synonyms

2310040A02Rik, Rnac, RPCL1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7936 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29101375-29143843 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 29118405 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067579 (fasta)

Gene Model

predicted gene model for transcript(s): [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

Meta Mutation Damage Score

0.6555

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,923,464	L438*	probably null	Het
Adamts18	T	A	8: 113,767,128	I460F	probably damaging	Het
Api5	C	T	2: 94,438,047		probably benign	Het
Arap2	A	G	5: 62,730,705	S433P	probably damaging	Het
Arhgap26	T	C	18: 39,205,287	Y371H	probably damaging	Het
Asf1b	T	C	8: 83,969,219	I163T	probably benign	Het
Cacna2d2	A	G	9: 107,524,127	N696S	probably damaging	Het
Carns1	A	C	19: 4,166,153	S677A	probably benign	Het
Cd276	G	A	9: 58,540,830		probably benign	Het
Cdk8	T	A	5: 146,299,834	M353K	possibly damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chsy3	A	G	18: 59,409,346	I519V	probably damaging	Het
Chtop	T	C	3: 90,507,351		probably benign	Het
Clstn3	T	A	6: 124,432,013	D892V	possibly damaging	Het
Col16a1	A	T	4: 130,096,871		probably null	Het
Dnah5	A	G	15: 28,345,837	E2441G	possibly damaging	Het
Dpy19l2	T	G	9: 24,558,158	D734A	probably damaging	Het
Dusp2	T	A	2: 127,336,892	Y172*	probably null	Het
Eml4	G	A	17: 83,473,686	R771Q	possibly damaging	Het
Fat2	T	A	11: 55,310,167	M694L	probably benign	Het
Fat2	C	A	11: 55,311,160	E363*	probably null	Het
Gdpgp1	A	G	7: 80,239,078	I286V	probably damaging	Het
Gm11639	A	G	11: 104,999,698	N4202S	possibly damaging	Het
Gm11639	G	A	11: 105,046,559		probably null	Het
Gps1	T	A	11: 120,786,373	V166E	probably damaging	Het
H60b	T	A	10: 22,286,156	N93K	probably benign	Het
Imp4	C	T	1: 34,443,033	T79I	probably benign	Het
Kank3	A	G	17: 33,818,867	S485G	probably benign	Het
Kcnv2	A	G	19: 27,322,767	N6S	probably benign	Het
Krba1	A	T	6: 48,411,669	Q534L	probably damaging	Het
Lgr4	A	G	2: 110,006,518	N399S	probably damaging	Het
Lgr5	A	G	10: 115,453,047	V564A	probably damaging	Het
Lrtm2	A	G	6: 119,320,433	F216L	probably benign	Het
Lsm8	T	A	6: 18,849,659	M22K	probably benign	Het
Mboat2	C	T	12: 24,955,393	T389M	probably damaging	Het
Mcoln1	T	G	8: 3,505,924	I73S	probably damaging	Het
Myh7	T	A	14: 54,979,463	I1146F	possibly damaging	Het
Naa16	G	A	14: 79,341,046	T666I	possibly damaging	Het
Ncoa1	A	G	12: 4,335,873	S88P	possibly damaging	Het
Obscn	T	C	11: 59,050,508	T4496A	possibly damaging	Het
Olfr1351	T	A	10: 79,018,038	F239I	probably damaging	Het
Olfr61	T	C	7: 140,637,739	F13L	probably damaging	Het
Papd5	G	A	8: 88,252,285	G505R	probably null	Het
Pdxk	G	T	10: 78,441,178	A262D	possibly damaging	Het
Pebp4	T	A	14: 69,851,633	L68Q	probably damaging	Het
Pfdn5	C	T	15: 102,328,543	H77Y	possibly damaging	Het
Pld1	T	C	3: 28,076,502	Y484H	probably damaging	Het
Pou3f3	C	A	1: 42,697,400	N85K	unknown	Het
Ppm1m	C	A	9: 106,197,945	A134S	probably damaging	Het
Prdm11	A	T	2: 92,975,761	S281R	possibly damaging	Het
Prdm2	C	A	4: 143,135,864	L285F	probably damaging	Het
Ptchd3	C	T	11: 121,831,113	R271*	probably null	Het
Ptprq	A	C	10: 107,652,711	V955G	probably damaging	Het
Pygb	A	T	2: 150,815,669	M351L	probably benign	Het
Sgip1	A	T	4: 102,928,900	T351S	possibly damaging	Het
Slc22a5	T	C	11: 53,869,389	N367S	probably damaging	Het
Sox6	A	G	7: 115,544,595	V437A	probably benign	Het
Spata16	T	A	3: 26,667,423	M31K	possibly damaging	Het
Stab1	C	A	14: 31,157,415	V703F	possibly damaging	Het
Tbc1d4	C	T	14: 101,465,754	G752R	probably damaging	Het
Tes3-ps	C	T	13: 49,493,984	A112V	probably benign	Het
Tnfrsf19	T	C	14: 60,970,933	T380A	probably benign	Het
Trim75	C	T	8: 64,982,538	G420E	probably damaging	Het
Txlnb	A	G	10: 17,827,964	D290G	probably benign	Het
Unc5c	T	A	3: 141,828,477	F920I	possibly damaging	Het
Vmn1r233	T	A	17: 20,993,975	R238*	probably null	Het
Vmn2r113	A	G	17: 22,957,943	E567G	probably benign	Het
Vmn2r97	T	A	17: 18,930,400	I503K	probably damaging	Het
Wdr62	A	G	7: 30,265,159	W387R	probably damaging	Het
Zfp36l2	A	T	17: 84,187,662	D11E	probably benign	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
R2249:Rcl1	UTSW	19	29121868	missense	possibly damaging	0.46
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
R8453:Rcl1	UTSW	19	29115759	missense	possibly damaging	0.95
R9282:Rcl1	UTSW	19	29115770	missense	probably damaging	0.99
R9747:Rcl1	UTSW	19	29128082	missense	probably damaging	0.98
Z1176:Rcl1	UTSW	19	29101617	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCTTATACTACCAGCCTGGC -3'
(R):5'- ACAGAGAACGGCGCTTTGATG -3'

Sequencing Primer
(F):5'- AGCCTGGCCTCCTGTATG -3'
(R):5'- CTCTAAGTTGATGATCACGGGAC -3'

Posted On

2020-10-22