Mutagenetix > Incidental Mutation

Incidental Mutation 'R4415:Rcl1'

326815

Institutional Source

Beutler Lab

Gene Symbol

Rcl1

Ensembl Gene

ENSMUSG00000024785

Gene Name

RNA terminal phosphate cyclase-like 1

Synonyms

RPCL1, 2310040A02Rik, Rnac

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29078761-29121251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29095762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 116 (V116I)

Ref Sequence

ENSEMBL: ENSMUSP00000067579 (fasta)

Gene Model

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

AlphaFold

Q9JJT0

Predicted Effect

probably benign
Transcript: ENSMUST00000064393
AA Change: V116I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000067579
Gene: ENSMUSG00000024785
AA Change: V116I

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: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	A	T	11: 105,895,947 (GRCm39)	D631V	probably benign	Het
Adam17	T	C	12: 21,395,702 (GRCm39)	I274V	possibly damaging	Het
Aebp1	A	G	11: 5,815,451 (GRCm39)	D303G	probably damaging	Het
B020004C17Rik	T	C	14: 57,254,874 (GRCm39)	*233R	probably null	Het
Bcl9l	C	T	9: 44,413,176 (GRCm39)	P127S	possibly damaging	Het
Bdp1	T	C	13: 100,167,369 (GRCm39)	D2215G	probably damaging	Het
Caly	T	C	7: 139,652,593 (GRCm39)	T52A	probably damaging	Het
Ccdc125	T	C	13: 100,832,817 (GRCm39)	S465P	possibly damaging	Het
Cdc23	ACC	AC	18: 34,770,371 (GRCm39)		probably null	Het
Colq	T	C	14: 31,257,645 (GRCm39)	K231E	probably damaging	Het
Fam32a	T	A	8: 72,975,785 (GRCm39)	I77N	probably damaging	Het
Impdh1	C	T	6: 29,209,221 (GRCm39)	V49M	probably damaging	Het
Kcnh7	A	G	2: 62,536,417 (GRCm39)	I1055T	probably damaging	Het
Lad1	A	G	1: 135,756,484 (GRCm39)	D364G	probably benign	Het
Lama2	G	T	10: 26,865,340 (GRCm39)	Y947*	probably null	Het
Myo5b	T	A	18: 74,713,479 (GRCm39)	I108N	probably damaging	Het
Nvl	T	C	1: 180,932,679 (GRCm39)	T713A	probably benign	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Or6c70	T	C	10: 129,709,826 (GRCm39)	T267A	probably benign	Het
Pappa	A	G	4: 65,223,532 (GRCm39)	T1236A	probably benign	Het
Pip4p2	C	T	4: 14,912,463 (GRCm39)	R191C	probably damaging	Het
Rdh14	G	A	12: 10,441,231 (GRCm39)		probably null	Het
Rfx2	T	A	17: 57,094,733 (GRCm39)	T204S	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Ripor1	T	C	8: 106,344,608 (GRCm39)	S581P	probably benign	Het
Rnf213	T	A	11: 119,374,790 (GRCm39)	V5084E	probably damaging	Het
Scn9a	A	T	2: 66,357,037 (GRCm39)	V1077E	probably damaging	Het
Slc15a5	A	G	6: 138,056,754 (GRCm39)	V54A	probably benign	Het
Slc35b2	G	A	17: 45,877,355 (GRCm39)	V161M	probably benign	Het
Snx19	T	A	9: 30,348,779 (GRCm39)	L804Q	probably damaging	Het
Spata31e5	T	A	1: 28,816,214 (GRCm39)	Q606L	probably benign	Het
Specc1l	C	A	10: 75,082,162 (GRCm39)	N519K	possibly damaging	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Stambp	A	T	6: 83,534,464 (GRCm39)	N274K	probably damaging	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Tacc3	T	G	5: 33,824,028 (GRCm39)		probably null	Het
Tubb1	G	A	2: 174,299,466 (GRCm39)	E383K	probably benign	Het
Ube3b	A	T	5: 114,550,505 (GRCm39)	D844V	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
R5324:Rcl1	UTSW	19	29,105,401 (GRCm39)	missense	probably benign	0.23
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'- CCCTTGGAACACACTACATTCG -3'
(R):5'- CACGGGACTTGATTCATCTGTG -3'

Sequencing Primer
(F):5'- GGAACACACTACATTCGTTGTTGTC -3'
(R):5'- GTCTTGGATGAACTAACCTCTAAGC -3'

Posted On

2015-07-07