Mutagenetix > Incidental Mutation

Incidental Mutation 'R9282:Rcl1'

703717

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 #

R9282 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29101375-29143843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29115770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 62 (S62P)

Ref Sequence

ENSEMBL: ENSMUSP00000067579 (fasta)

Gene Model

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

AlphaFold

Q9JJT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000064393
AA Change: S62P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067579
Gene: ENSMUSG00000024785
AA Change: S62P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	G	A	16: 56,620,504	V701M	unknown	Het
Adam2	G	A	14: 66,029,789	P674S	probably benign	Het
Adam24	T	A	8: 40,680,635	Y381N	probably damaging	Het
Adgrv1	A	G	13: 81,103,372	S6209P	probably damaging	Het
Aox4	A	T	1: 58,245,869	K593N	possibly damaging	Het
Aqp3	A	G	4: 41,093,640	V258A	possibly damaging	Het
Atg16l1	T	A	1: 87,780,184	F390I	possibly damaging	Het
B4galt6	T	A	18: 20,692,452	Y239F	possibly damaging	Het
Cmtr2	T	C	8: 110,222,345	M429T	probably benign	Het
Col5a2	C	G	1: 45,438,869		probably null	Het
Dcc	T	C	18: 71,682,178	D375G	possibly damaging	Het
Dnah14	T	C	1: 181,814,512	Y31H		Het
Fam131a	G	A	16: 20,701,493	R232H	possibly damaging	Het
Fam186a	A	G	15: 99,941,998	Y2122H	probably damaging	Het
Focad	A	T	4: 88,196,822	I421F	unknown	Het
Fscb	T	G	12: 64,473,323	E456D	possibly damaging	Het
Furin	C	A	7: 80,391,098	S664I	probably benign	Het
Ganc	A	G	2: 120,459,900	E906G	probably benign	Het
Gdf5	C	G	2: 155,941,995	D346H	probably damaging	Het
Golga4	T	C	9: 118,556,825	L1005P	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,508	N183S	probably benign	Het
Itpr1	T	A	6: 108,394,023	F1084I	probably damaging	Het
Katnal1	A	T	5: 148,894,211	Y184*	probably null	Het
Lrrc37a	A	G	11: 103,500,807	I1264T	probably benign	Het
Map3k2	T	A	18: 32,209,752	M234K	probably damaging	Het
Mcm3ap	T	A	10: 76,506,518	V1615E	probably damaging	Het
Mkrn2	A	G	6: 115,614,573		probably null	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nradd	T	A	9: 110,621,683	Q142L	possibly damaging	Het
Olfr689	T	C	7: 105,314,574	I190T	probably benign	Het
Ophn1	G	A	X: 98,578,539	T668M	probably benign	Het
Pdzd7	A	G	19: 45,040,183	F174L	probably damaging	Het
Pi4k2b	C	T	5: 52,743,537	T99I	probably benign	Het
Pigv	A	T	4: 133,664,662	V399D	probably damaging	Het
Pla2g4a	C	A	1: 149,871,456	L326F	probably damaging	Het
Psmg1	T	C	16: 95,989,517	I73M	probably damaging	Het
Slc23a4	T	A	6: 34,978,926	I58F	probably damaging	Het
Slc36a2	G	T	11: 55,170,011	T191K	probably benign	Het
Sorbs2	T	G	8: 45,795,737	V675G	probably benign	Het
Tbc1d30	T	C	10: 121,306,223		probably null	Het
Tbc1d4	A	G	14: 101,608,180	V94A	possibly damaging	Het
Tdrd5	T	C	1: 156,277,460	Y532C	probably benign	Het
Tll2	T	A	19: 41,086,333	I931L	probably benign	Het
Tlr3	T	C	8: 45,398,606	N418S	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tshr	T	A	12: 91,507,744	M164K	possibly damaging	Het
Ttc21b	A	G	2: 66,226,005	V679A	possibly damaging	Het
Ttn	A	G	2: 76,900,517	Y4951H	unknown	Het
Usf1	T	A	1: 171,415,805	V50D	possibly damaging	Het
Utp6	A	T	11: 79,936,025	M575K	probably benign	Het
Vmn1r197	A	T	13: 22,328,438	R176S	possibly damaging	Het
Vmn2r104	A	T	17: 20,040,836	F442I	probably damaging	Het
Vmn2r94	A	G	17: 18,277,489	F7S	possibly damaging	Het
Vps41	G	T	13: 18,829,231	E340*	probably null	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
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
R9747:Rcl1	UTSW	19	29128082	missense	probably damaging	0.98
Z1176:Rcl1	UTSW	19	29101617	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTGTGATTGAGCAGTTCTC -3'
(R):5'- TTCCCTGAACATTCATGAAGATGG -3'

Sequencing Primer
(F):5'- CAGAGCCCTTAGCCTGTGATTG -3'
(R):5'- GAGGAATGTCCGAGTAGT -3'

Posted On

2022-03-25