Mutagenetix > Incidental Mutation

Incidental Mutation 'R7332:Rcl1'

569332

Institutional Source

Beutler Lab

Gene Symbol

Rcl1

Ensembl Gene

ENSMUSG00000024785

Gene Name

RNA terminal phosphate cyclase-like 1

Synonyms

2310040A02Rik, Rnac, RPCL1

MMRRC Submission

045425-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29101375-29143843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29130696 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 253 (T253S)

Ref Sequence

ENSEMBL: ENSMUSP00000067579 (fasta)

Gene Model

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

AlphaFold

Q9JJT0

Predicted Effect

probably benign
Transcript: ENSMUST00000064393
AA Change: T253S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000067579
Gene: ENSMUSG00000024785
AA Change: T253S

Domain	Start	End	E-Value	Type
Pfam:RTC	8	341	1.3e-61	PFAM
Pfam:RTC_insert	184	289	1.8e-37	PFAM

Meta Mutation Damage Score

0.0667

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	A	G	19: 56,918,121 (GRCm38)	S449P	probably damaging	Het
Atp6v0c	A	C	17: 24,169,224 (GRCm38)	S21A	probably benign	Het
Cacna1e	T	C	1: 154,725,801 (GRCm38)	Y40C	possibly damaging	Het
Cdadc1	A	G	14: 59,575,764 (GRCm38)	I398T	possibly damaging	Het
Cfap44	T	A	16: 44,429,828 (GRCm38)	D756E	probably damaging	Het
Clcnkb	A	T	4: 141,413,932 (GRCm38)	L104Q	probably null	Het
Clk1	G	A	1: 58,412,694 (GRCm38)	H421Y	probably benign	Het
Cmpk2	A	T	12: 26,478,062 (GRCm38)	D426V	probably damaging	Het
Cmya5	A	G	13: 93,092,553 (GRCm38)	L2009S	possibly damaging	Het
Col5a2	C	G	1: 45,380,165 (GRCm38)	D1252H	probably damaging	Het
Coro1b	A	G	19: 4,149,357 (GRCm38)	K5R	probably benign	Het
Csmd2	A	G	4: 128,419,567 (GRCm38)	T1346A		Het
Csrp1	G	T	1: 135,739,411 (GRCm38)	W4L	probably benign	Het
Cyp3a25	A	G	5: 145,993,007 (GRCm38)	I184T	probably damaging	Het
Egfl7	C	A	2: 26,590,713 (GRCm38)	R128S	probably benign	Het
Fggy	A	T	4: 95,623,482 (GRCm38)	N157I	probably damaging	Het
Gldc	A	T	19: 30,116,526 (GRCm38)	L697Q	probably damaging	Het
Gm10436	T	C	12: 88,176,417 (GRCm38)	T339A	possibly damaging	Het
Gm4952	T	A	19: 12,627,009 (GRCm38)	Y262N	probably damaging	Het
Gsap	T	A	5: 21,290,121 (GRCm38)	M821K	probably benign	Het
Hps1	T	C	19: 42,777,912 (GRCm38)		probably null	Het
Hsbp1l1	T	C	18: 80,236,823 (GRCm38)		probably benign	Het
Igfbp7	G	A	5: 77,351,956 (GRCm38)	T220I	probably damaging	Het
Ints3	T	C	3: 90,415,512 (GRCm38)	Q137R	probably damaging	Het
Kcna6	A	G	6: 126,739,329 (GRCm38)	F199S	possibly damaging	Het
Kirrel	T	C	3: 87,088,398 (GRCm38)	I410V	probably benign	Het
Llgl2	T	C	11: 115,848,299 (GRCm38)	V332A	probably damaging	Het
Lrrc27	A	G	7: 139,242,745 (GRCm38)	I517M	probably damaging	Het
Mas1	T	C	17: 12,842,219 (GRCm38)	T106A	probably benign	Het
Mast4	T	A	13: 102,751,424 (GRCm38)	Y1159F	possibly damaging	Het
Mmp2	A	G	8: 92,850,152 (GRCm38)	D601G	probably damaging	Het
Mycbp2	T	A	14: 103,197,357 (GRCm38)	I2217F	probably damaging	Het
Mycbp2	A	G	14: 103,156,453 (GRCm38)	S2891P	probably damaging	Het
Naip6	A	G	13: 100,300,701 (GRCm38)	V438A	possibly damaging	Het
Olfr1284	A	G	2: 111,379,393 (GRCm38)	H131R	not run	Het
Pdf	T	C	8: 107,048,541 (GRCm38)	R20G	probably benign	Het
Pfdn2	T	C	1: 171,356,594 (GRCm38)	L47P	probably damaging	Het
Pik3c2g	C	A	6: 139,896,255 (GRCm38)	N795K		Het
Ppip5k1	A	T	2: 121,311,969 (GRCm38)	V1333D	probably damaging	Het
Prss44	A	T	9: 110,815,462 (GRCm38)	I213F	probably damaging	Het
Rbm47	A	G	5: 66,026,214 (GRCm38)	Y349H	probably damaging	Het
Rdh1	A	G	10: 127,759,885 (GRCm38)		probably benign	Het
Scn7a	C	T	2: 66,692,554 (GRCm38)	W935*	probably null	Het
Sec24b	T	C	3: 130,041,393 (GRCm38)	N52S	probably benign	Het
Serpinb5	A	T	1: 106,872,361 (GRCm38)	I94L	probably benign	Het
Setx	T	C	2: 29,146,626 (GRCm38)	V1041A	probably benign	Het
Slco3a1	G	A	7: 74,318,484 (GRCm38)	A496V	possibly damaging	Het
Spag5	T	A	11: 78,313,379 (GRCm38)	L486*	probably null	Het
Spink5	T	C	18: 43,982,250 (GRCm38)	I183T	probably damaging	Het
Srd5a1	T	C	13: 69,611,054 (GRCm38)	Y65C	probably benign	Het
Ssh2	T	A	11: 77,453,523 (GRCm38)	I778N	possibly damaging	Het
Sstr1	C	T	12: 58,213,386 (GRCm38)	S265L	probably damaging	Het
Syne2	T	A	12: 75,967,755 (GRCm38)		probably null	Het
Tctn1	A	T	5: 122,261,484 (GRCm38)	D92E	probably damaging	Het
Tiam2	A	G	17: 3,453,369 (GRCm38)	I940M	probably damaging	Het
Tmeff2	T	C	1: 50,979,440 (GRCm38)	W194R	unknown	Het
Tomm20	T	C	8: 126,937,153 (GRCm38)	T94A	probably benign	Het
Ucn2	A	G	9: 108,986,464 (GRCm38)	N98S	probably benign	Het
V1rd19	A	T	7: 24,003,318 (GRCm38)	I70L	probably benign	Het
Vmn1r18	A	G	6: 57,390,518 (GRCm38)	L17P	probably benign	Het
Vmn2r61	A	G	7: 42,260,110 (GRCm38)	T20A	probably benign	Het
Wdr59	G	A	8: 111,494,354 (GRCm38)	T182I		Het
Zfp40	A	T	17: 23,176,181 (GRCm38)	C477*	probably null	Het
Zfp68	A	G	5: 138,606,568 (GRCm38)	S498P	possibly damaging	Het
Zfp729b	T	C	13: 67,609,636 (GRCm38)		probably null	Het
Zfp846	T	G	9: 20,594,225 (GRCm38)	N460K	probably benign	Het
Zim1	T	C	7: 6,677,353 (GRCm38)	Y437C	probably damaging	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
R7936:Rcl1	UTSW	19	29,118,405 (GRCm38)	splice site	probably null
R8353:Rcl1	UTSW	19	29,115,759 (GRCm38)	missense	possibly damaging	0.95
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'- GCATGCAAACTTCCTCTCGC -3'
(R):5'- GAACACAGGCGAGCTCTTTAG -3'

Sequencing Primer
(F):5'- GCAAACTTCCTCTCGCCTTGG -3'
(R):5'- TCTTTAGCTCAAGTGCCCAGAAAG -3'

Posted On

2019-09-13