Mutagenetix > Incidental Mutation

Incidental Mutation 'R8353:Rcl1'

645657

Institutional Source

Beutler Lab

Gene Symbol

Rcl1

Ensembl Gene

ENSMUSG00000024785

Gene Name

RNA terminal phosphate cyclase-like 1

Synonyms

2310040A02Rik, Rnac, RPCL1

MMRRC Submission

067805-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R8353 (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 29115759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 58 (I58T)

Ref Sequence

ENSEMBL: ENSMUSP00000067579 (fasta)

Gene Model

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

AlphaFold

Q9JJT0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064393
AA Change: I58T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000067579
Gene: ENSMUSG00000024785
AA Change: I58T

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: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	T	9: 101,938,685 (GRCm38)	C23F	possibly damaging	Het
Adam29	T	C	8: 55,873,161 (GRCm38)	H86R	possibly damaging	Het
Alas1	C	T	9: 106,236,522 (GRCm38)	R508Q	possibly damaging	Het
Albfm1	A	T	5: 90,566,501 (GRCm38)	R123S	possibly damaging	Het
Ark2n	T	C	18: 77,673,908 (GRCm38)	E236G	probably damaging	Het
Bmp3	G	A	5: 98,855,423 (GRCm38)		probably null	Het
Bud13	A	G	9: 46,288,201 (GRCm38)	T287A	probably benign	Het
C3	T	C	17: 57,212,643 (GRCm38)	E1203G	probably benign	Het
Carmil2	A	C	8: 105,690,211 (GRCm38)	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,276,446 (GRCm38)	T707S	probably damaging	Het
Cfap43	A	T	19: 47,746,647 (GRCm38)	V1435E	probably damaging	Het
Chrm3	A	T	13: 9,877,231 (GRCm38)	*590K	probably null	Het
Commd1	C	T	11: 22,978,503 (GRCm38)		probably benign	Het
Creb3l1	A	T	2: 91,990,929 (GRCm38)	Y314*	probably null	Het
Ctc1	T	A	11: 69,022,449 (GRCm38)	S90R	probably benign	Het
Dixdc1	T	C	9: 50,684,886 (GRCm38)	Q413R	probably benign	Het
Dlg5	T	C	14: 24,158,145 (GRCm38)	T998A	probably benign	Het
Dnai4	A	G	4: 103,059,916 (GRCm38)	I577T	possibly damaging	Het
Eif1ad14	C	T	12: 87,919,553 (GRCm38)	S102N	probably benign	Het
Fam89b	A	G	19: 5,728,875 (GRCm38)	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,290,735 (GRCm38)	I400M	probably benign	Het
Gad1	A	T	2: 70,600,713 (GRCm38)	M567L	probably benign	Het
Gemin5	T	C	11: 58,125,239 (GRCm38)	S1314G	probably benign	Het
Gm9195	T	G	14: 72,440,761 (GRCm38)	I2323L	probably benign	Het
Gria1	T	A	11: 57,243,051 (GRCm38)	F585L	probably damaging	Het
Hbs1l	A	T	10: 21,309,279 (GRCm38)	H200L	probably benign	Het
Igsf5	A	G	16: 96,421,796 (GRCm38)	Q360R	probably benign	Het
Il31ra	A	T	13: 112,524,183 (GRCm38)	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,387,820 (GRCm38)	R837G	probably damaging	Het
Itprid2	T	C	2: 79,644,785 (GRCm38)	S363P	probably benign	Het
Lpl	A	G	8: 68,895,781 (GRCm38)	I221V	probably damaging	Het
Mink1	T	A	11: 70,610,328 (GRCm38)	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,202 (GRCm38)	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,988,377 (GRCm38)	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,332,311 (GRCm38)	V460E	probably damaging	Het
Nicn1	T	A	9: 108,293,373 (GRCm38)	F57Y	probably damaging	Het
Nlrp4b	A	G	7: 10,715,601 (GRCm38)	Y577C	probably damaging	Het
Nrap	T	C	19: 56,323,920 (GRCm38)	T1535A	probably damaging	Het
Opa1	G	A	16: 29,620,868 (GRCm38)	R755H	probably damaging	Het
Phldb2	A	G	16: 45,825,022 (GRCm38)	S354P	probably benign	Het
Phykpl	T	C	11: 51,598,294 (GRCm38)	S316P	probably damaging	Het
Pnpla1	T	A	17: 28,858,899 (GRCm38)	D11E	probably benign	Het
Pold2	A	G	11: 5,875,104 (GRCm38)	F98L	probably damaging	Het
Prph	G	A	15: 99,056,776 (GRCm38)	R241Q	probably benign	Het
Rps6ka2	A	G	17: 7,246,752 (GRCm38)	N117D	probably benign	Het
Sars1	G	A	3: 108,428,713 (GRCm38)	S331L	probably benign	Het
Scfd1	A	C	12: 51,412,591 (GRCm38)	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,989,348 (GRCm38)	C363R	probably benign	Het
Senp7	A	G	16: 56,188,328 (GRCm38)	I1024V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570 (GRCm38)		probably benign	Het
Sptbn4	A	G	7: 27,404,238 (GRCm38)	L1191P	probably damaging	Het
Stk40	A	G	4: 126,128,973 (GRCm38)	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,809,048 (GRCm38)	V536E	probably benign	Het
Tex15	G	T	8: 33,576,871 (GRCm38)	E2110*	probably null	Het
Thbs4	G	A	13: 92,790,817 (GRCm38)	P55S	probably benign	Het
Tmem115	T	C	9: 107,534,798 (GRCm38)	V107A	probably benign	Het
Tnfaip6	A	C	2: 52,055,867 (GRCm38)	I242L	probably benign	Het
Trabd	G	T	15: 89,085,413 (GRCm38)	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,487,740 (GRCm38)	I86F	probably damaging	Het
Trpc7	A	G	13: 56,822,559 (GRCm38)	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,610,887 (GRCm38)	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,561,908 (GRCm38)	D707V	probably damaging	Het
Vnn3	G	A	10: 23,869,545 (GRCm38)	R464H	probably benign	Het
Wdr27	T	C	17: 14,892,489 (GRCm38)	T652A	probably benign	Het
Yeats2	C	T	16: 20,222,887 (GRCm38)	R1176*	probably null	Het

Other mutations in Rcl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Rcl1	APN	19	29,121,262 (GRCm38)	splice site	probably null
IGL01514:Rcl1	APN	19	29,143,298 (GRCm38)	utr 3 prime	probably benign
IGL02625:Rcl1	APN	19	29,118,341 (GRCm38)	missense	probably benign	0.04
R0512:Rcl1	UTSW	19	29,128,097 (GRCm38)	missense	probably damaging	1.00
R2249:Rcl1	UTSW	19	29,121,868 (GRCm38)	missense	possibly damaging	0.46
R3610:Rcl1	UTSW	19	29,118,230 (GRCm38)	missense	probably benign	0.00
R4415:Rcl1	UTSW	19	29,118,362 (GRCm38)	missense	probably benign	0.01
R5324:Rcl1	UTSW	19	29,128,001 (GRCm38)	missense	probably benign	0.23
R5679:Rcl1	UTSW	19	29,121,258 (GRCm38)	splice site	probably null
R5988:Rcl1	UTSW	19	29,121,767 (GRCm38)	missense	probably damaging	1.00
R7332:Rcl1	UTSW	19	29,130,696 (GRCm38)	missense	probably benign	0.03
R7936:Rcl1	UTSW	19	29,118,405 (GRCm38)	splice site	probably null
R8453:Rcl1	UTSW	19	29,115,759 (GRCm38)	missense	possibly damaging	0.95
R9282:Rcl1	UTSW	19	29,115,770 (GRCm38)	missense	probably damaging	0.99
R9747:Rcl1	UTSW	19	29,128,082 (GRCm38)	missense	probably damaging	0.98
Z1176:Rcl1	UTSW	19	29,101,617 (GRCm38)	missense	probably benign

Predicted Primers

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

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

Posted On

2020-09-02