Mutagenetix > Incidental Mutation

Incidental Mutation 'R9747:Rcl1'

732273

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 #

R9747 (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 A at 29128082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 223 (I223N)

Ref Sequence

ENSEMBL: ENSMUSP00000067579 (fasta)

Gene Model

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

AlphaFold

Q9JJT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000064393
AA Change: I223N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067579
Gene: ENSMUSG00000024785
AA Change: I223N

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,850,847	S701P	probably damaging	Het
9930021J03Rik	C	A	19: 29,754,511	C367F	possibly damaging	Het
Acsl1	A	G	8: 46,508,360	K114R	probably benign	Het
Adam11	A	G	11: 102,772,669	N275D	probably damaging	Het
Adamts19	G	A	18: 58,890,415	R294H	possibly damaging	Het
Adamts20	C	T	15: 94,283,062	C1666Y	probably damaging	Het
Ahnak	A	T	19: 9,010,177	I2942L	possibly damaging	Het
Ank1	A	G	8: 23,086,977	H195R	probably damaging	Het
Ank2	T	C	3: 126,959,018	T350A	probably damaging	Het
Asb3	T	A	11: 31,058,946	N243K	possibly damaging	Het
Atp10b	C	T	11: 43,197,512	T315I	probably benign	Het
Avl9	C	T	6: 56,753,840	S583F	probably damaging	Het
Bclaf1	A	G	10: 20,332,146	K700E	possibly damaging	Het
Cacna1i	G	A	15: 80,362,117	E571K	probably benign	Het
Casp1	T	A	9: 5,299,322	V17E	probably damaging	Het
Ccdc115	A	T	1: 34,438,920	D76E	probably benign	Het
Ccdc150	A	T	1: 54,259,948	R28*	probably null	Het
Cd36	T	G	5: 17,814,734	E123A	probably benign	Het
Cd5l	A	C	3: 87,367,797	Q214H	probably benign	Het
Cfap46	T	A	7: 139,611,991	H2370L	unknown	Het
Cftr	C	A	6: 18,285,637	T1148K	possibly damaging	Het
Col15a1	T	A	4: 47,312,208	L1341Q	probably damaging	Het
Col6a6	T	C	9: 105,784,040	E290G	probably benign	Het
D6Wsu163e	A	G	6: 126,962,014	E404G	probably benign	Het
Dchs1	A	T	7: 105,763,475	D1239E	probably damaging	Het
Dennd4b	C	T	3: 90,270,521	T430I	possibly damaging	Het
Dmgdh	C	T	13: 93,688,646	P159L	probably damaging	Het
Dmrt3	G	A	19: 25,622,639	D283N	probably damaging	Het
Dnttip1	A	G	2: 164,765,180	D247G	probably damaging	Het
Efhc1	A	T	1: 20,978,704	D447V	probably damaging	Het
Ehhadh	T	C	16: 21,766,388	K248E	probably benign	Het
Eif4enif1	T	C	11: 3,213,267	L34P	probably damaging	Het
Fer	T	C	17: 63,907,381	M103T	probably benign	Het
Gabrg1	T	C	5: 70,780,686	M197V	probably damaging	Het
Galnt5	C	A	2: 57,999,465	T359K	probably benign	Het
Gm8108	G	T	14: 4,110,527		probably benign	Het
Gna12	T	C	5: 140,760,847	N281S	probably damaging	Het
Golgb1	C	T	16: 36,893,407	T250I	probably damaging	Het
Gpd1	A	G	15: 99,720,123	K130E	probably benign	Het
Gys2	A	T	6: 142,449,455	M428K	possibly damaging	Het
Hey2	A	C	10: 30,833,828	S310A	probably benign	Het
Ifi47	T	C	11: 49,096,540	V378A	possibly damaging	Het
Ighv8-12	A	G	12: 115,648,020	S95P	probably damaging	Het
Igkv1-131	G	T	6: 67,766,231	T56K	probably damaging	Het
Igsf23	T	C	7: 19,941,914	N127S	probably benign	Het
Iqgap2	T	A	13: 95,684,997	N546I	probably damaging	Het
Irf9	A	G	14: 55,606,588	H270R	probably benign	Het
Itga6	C	T	2: 71,826,527	S375L	probably damaging	Het
Jak1	T	C	4: 101,158,890	E857G	probably benign	Het
Kbtbd8	A	G	6: 95,121,857	T116A	possibly damaging	Het
Kif5a	T	C	10: 127,238,753	I570V	probably benign	Het
Klhdc10	T	C	6: 30,439,860	M154T	possibly damaging	Het
Krtap6-2	A	G	16: 89,419,888	Y64H	unknown	Het
Lce1l	C	T	3: 92,850,521	C10Y	unknown	Het
Lrrc72	A	G	12: 36,214,372	Y29H	probably damaging	Het
Ltbp2	A	T	12: 84,868,741	N181K	probably damaging	Het
Ly75	A	G	2: 60,306,328		probably null	Het
Mpped1	A	G	15: 83,800,104	Y109C	probably damaging	Het
Mrgpra2a	C	T	7: 47,426,710	V267I	probably benign	Het
Muc4	T	A	16: 32,754,698	V1524E	probably benign	Het
Nabp2	T	A	10: 128,401,741	R208*	probably null	Het
Ndst3	A	G	3: 123,546,812	F786L	possibly damaging	Het
Nos2	C	T	11: 78,931,646	P123S	probably damaging	Het
Nrcam	T	A	12: 44,598,409	V1198E	probably damaging	Het
Oacyl	A	G	18: 65,747,891	Q592R	possibly damaging	Het
Olfr1111	T	A	2: 87,150,554	T36S	probably benign	Het
Olfr1331	C	T	4: 118,869,020	P80S	probably damaging	Het
Pcdhgc4	A	G	18: 37,817,973	Y814C	probably benign	Het
Pcm1	A	C	8: 41,304,098	H1349P	probably benign	Het
Pcsk6	T	A	7: 65,983,722	D567E	probably damaging	Het
Pdgfd	T	C	9: 6,337,310	V214A	probably benign	Het
Plekhg3	A	T	12: 76,564,593	N270I	probably damaging	Het
Rasgrf1	T	A	9: 89,994,994	V804E	probably benign	Het
Rbl1	G	T	2: 157,192,046	L371I	probably damaging	Het
Saa4	C	T	7: 46,731,653	G15E	probably damaging	Het
Selenbp1	T	C	3: 94,937,337	S102P	probably damaging	Het
Setx	G	T	2: 29,174,365	E232*	probably null	Het
Sik2	A	G	9: 50,898,758	F502L	possibly damaging	Het
Slamf9	A	T	1: 172,478,215	I272F	unknown	Het
Slc33a1	A	T	3: 63,954,003	D259E	probably benign	Het
Slc41a3	A	G	6: 90,644,156	I393V	probably benign	Het
Slk	A	G	19: 47,619,907	D433G	possibly damaging	Het
Spata13	C	T	14: 60,691,791	P266L	probably benign	Het
Speer4c	T	A	5: 15,711,654	Q105L	probably benign	Het
Srgap1	A	G	10: 121,792,674	S818P	probably benign	Het
Srgap1	T	A	10: 121,925,866	I126F	probably damaging	Het
Tbpl2	A	T	2: 24,091,092	C232*	probably null	Het
Tctn3	T	G	19: 40,611,299	N153T	possibly damaging	Het
Tdrd1	T	A	19: 56,858,669	V914E	probably benign	Het
Tmem200b	A	G	4: 131,922,048	H93R	possibly damaging	Het
Tmem33	T	G	5: 67,268,579	N155K	possibly damaging	Het
Tmprss15	T	C	16: 79,087,512	D94G	probably benign	Het
Tnpo2	A	G	8: 85,055,359	D869G	probably benign	Het
Traf6	C	T	2: 101,696,684	R260*	probably null	Het
Ttn	C	T	2: 76,763,949	V20552I	possibly damaging	Het
Vmn2r102	T	A	17: 19,677,867	D381E	probably benign	Het
Vmn2r92	T	C	17: 18,184,939	F782L	possibly damaging	Het
Zfc3h1	G	A	10: 115,408,916	D765N	possibly damaging	Het
Zfp472	T	A	17: 32,977,297	H115Q	possibly damaging	Het
Zmynd11	T	A	13: 9,689,208	N514I	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
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
Z1176:Rcl1	UTSW	19	29101617	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATTGTAAGTGCCAGCGTGG -3'
(R):5'- CTGAAAGAGCTGTGAGGACC -3'

Sequencing Primer
(F):5'- AGCGTGGCACAGACTTG -3'
(R):5'- CTGTGCTGCCCTTAGAGAAGAG -3'

Posted On

2022-11-14