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

RPCL1, 2310040A02Rik, Rnac

MMRRC Submission

042907-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29078761-29121251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29105401 bp (GRCm39)

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
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ap5b1	G	A	19: 5,619,863 (GRCm39)	E428K	possibly damaging	Het
Bmp2	C	T	2: 133,403,279 (GRCm39)	R277*	probably null	Het
Cbl	A	T	9: 44,065,551 (GRCm39)	S659T	probably damaging	Het
Col14a1	A	T	15: 55,201,841 (GRCm39)	H43L	unknown	Het
Corin	A	G	5: 72,592,600 (GRCm39)	C133R	probably damaging	Het
Cyp1a1	A	G	9: 57,609,652 (GRCm39)	N401S	probably benign	Het
Dip2a	T	C	10: 76,132,227 (GRCm39)	D508G	probably damaging	Het
Dnah2	T	A	11: 69,348,819 (GRCm39)	H2556L	probably benign	Het
Dock8	T	C	19: 25,140,458 (GRCm39)	F1333L	probably benign	Het
Epg5	A	G	18: 78,005,660 (GRCm39)	K717E	possibly damaging	Het
Fmn2	G	A	1: 174,436,446 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hbp1	T	C	12: 31,978,617 (GRCm39)	N510S	probably damaging	Het
Lrguk	T	C	6: 34,050,732 (GRCm39)	S397P	possibly damaging	Het
Mmrn1	A	T	6: 60,953,570 (GRCm39)	D617V	probably damaging	Het
Mroh9	C	G	1: 162,888,329 (GRCm39)	G249R	probably damaging	Het
N6amt1	A	G	16: 87,151,241 (GRCm39)	D34G	probably damaging	Het
Nktr	A	T	9: 121,556,412 (GRCm39)	D30V	probably damaging	Het
Or52ab7	T	A	7: 102,978,257 (GRCm39)	M188K	probably damaging	Het
Or5w8	A	T	2: 87,688,040 (GRCm39)	I174F	probably damaging	Het
Or6c212	T	A	10: 129,558,814 (GRCm39)	I200L	probably benign	Het
Pabpc1	A	G	15: 36,600,869 (GRCm39)	F314L	probably damaging	Het
Papln	G	A	12: 83,821,345 (GRCm39)	V226M	probably damaging	Het
Parp12	A	T	6: 39,079,546 (GRCm39)	D321E	probably damaging	Het
Plch2	T	A	4: 155,068,991 (GRCm39)	T1107S	probably benign	Het
Psma2	T	C	13: 14,799,802 (GRCm39)	L182P	probably damaging	Het
Rdh16	G	A	10: 127,637,136 (GRCm39)	V24M	probably damaging	Het
Rpe65	A	G	3: 159,310,041 (GRCm39)	T105A	possibly damaging	Het
Serpini1	T	C	3: 75,547,601 (GRCm39)	I371T	probably damaging	Het
Tet2	T	C	3: 133,191,674 (GRCm39)	N920S	probably benign	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tmprss11f	T	A	5: 86,704,837 (GRCm39)	D27V	possibly damaging	Het
Zfp747l1	G	T	7: 126,984,079 (GRCm39)		probably benign	Het
Zxdc	T	A	6: 90,350,782 (GRCm39)	I411N	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
R5679:Rcl1	UTSW	19	29,098,658 (GRCm39)	splice site	probably null
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'- TCACCATGACTGTTTGAAAGGC -3'
(R):5'- AAAGGAGCGTCGCCATAGTC -3'

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

Posted On

2017-12-01