Mutagenetix > Incidental Mutation

Incidental Mutation 'R5324:Rcl1'

500912

Institutional Source

Beutler Lab

Gene Symbol

Rcl1

Ensembl Gene

ENSMUSG00000024785

Gene Name

RNA terminal phosphate cyclase-like 1

Synonyms

2310040A02Rik, Rnac, RPCL1

MMRRC Submission

042907-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29101375-29143843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29128001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 196 (Y196C)

Ref Sequence

ENSEMBL: ENSMUSP00000067579 (fasta)

Gene Model

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

AlphaFold

Q9JJT0

Predicted Effect

probably benign
Transcript: ENSMUST00000064393
AA Change: Y196C

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067579
Gene: ENSMUSG00000024785
AA Change: Y196C

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: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,907		probably benign	Het
Akap10	C	T	11: 61,916,189	A72T	probably damaging	Het
Ap5b1	G	A	19: 5,569,835	E428K	possibly damaging	Het
Bmp2	C	T	2: 133,561,359	R277*	probably null	Het
Cbl	A	T	9: 44,154,254	S659T	probably damaging	Het
Col14a1	A	T	15: 55,338,445	H43L	unknown	Het
Corin	A	G	5: 72,435,257	C133R	probably damaging	Het
Cyp1a1	A	G	9: 57,702,369	N401S	probably benign	Het
Dip2a	T	C	10: 76,296,393	D508G	probably damaging	Het
Dnah2	T	A	11: 69,457,993	H2556L	probably benign	Het
Dock8	T	C	19: 25,163,094	F1333L	probably benign	Het
Epg5	A	G	18: 77,962,445	K717E	possibly damaging	Het
Fmn2	G	A	1: 174,608,880		probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Hbp1	T	C	12: 31,928,618	N510S	probably damaging	Het
Lrguk	T	C	6: 34,073,797	S397P	possibly damaging	Het
Mmrn1	A	T	6: 60,976,586	D617V	probably damaging	Het
Mroh9	C	G	1: 163,060,760	G249R	probably damaging	Het
N6amt1	A	G	16: 87,354,353	D34G	probably damaging	Het
Nktr	A	T	9: 121,727,346	D30V	probably damaging	Het
Olfr1151	A	T	2: 87,857,696	I174F	probably damaging	Het
Olfr598	T	A	7: 103,329,050	M188K	probably damaging	Het
Olfr805	T	A	10: 129,722,945	I200L	probably benign	Het
Pabpc1	A	G	15: 36,600,625	F314L	probably damaging	Het
Papln	G	A	12: 83,774,571	V226M	probably damaging	Het
Parp12	A	T	6: 39,102,612	D321E	probably damaging	Het
Plch2	T	A	4: 154,984,534	T1107S	probably benign	Het
Psma2	T	C	13: 14,625,217	L182P	probably damaging	Het
Rdh16	G	A	10: 127,801,267	V24M	probably damaging	Het
Rpe65	A	G	3: 159,604,404	T105A	possibly damaging	Het
Serpini1	T	C	3: 75,640,294	I371T	probably damaging	Het
Tet2	T	C	3: 133,485,913	N920S	probably benign	Het
Tmem71	C	T	15: 66,555,214	S44N	probably benign	Het
Tmprss11f	T	A	5: 86,556,978	D27V	possibly damaging	Het
Zxdc	T	A	6: 90,373,800	I411N	probably 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
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
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
R7936:Rcl1	UTSW	19	29118405	splice site	probably null
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'- TCACCATGACTGTTTGAAAGGC -3'
(R):5'- AAAGGAGCGTCGCCATAGTC -3'

Sequencing Primer
(F):5'- GTTGTTGTTGTTGTTGGTTTTTGG -3'
(R):5'- ATAGTCTCGCCGAGCTCAG -3'

Posted On

2017-12-01