Mutagenetix > Incidental Mutation

Incidental Mutation 'R4683:Rlig1'

350123

Institutional Source

Beutler Lab

Gene Symbol

Rlig1

Ensembl Gene

ENSMUSG00000046567

Gene Name

RNA 5'-phosphate and 3'-OH ligase 1

Synonyms

4930430F08Rik

MMRRC Submission

041935-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R4683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100408136-100425252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100414243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 139 (I139V)

Ref Sequence

ENSEMBL: ENSMUSP00000152035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054471] [ENSMUST00000164751] [ENSMUST00000218821] [ENSMUST00000219765] [ENSMUST00000220346]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000054471
AA Change: I119V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000164751

SMART Domains

Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971

Domain	Start	End	E-Value	Type
coiled coil region	59	298	N/A	INTRINSIC
coiled coil region	319	566	N/A	INTRINSIC
coiled coil region	598	662	N/A	INTRINSIC
coiled coil region	697	754	N/A	INTRINSIC
coiled coil region	780	875	N/A	INTRINSIC
internal_repeat_2	884	894	1.1e-5	PROSPERO
coiled coil region	986	1028	N/A	INTRINSIC
internal_repeat_2	1057	1067	1.1e-5	PROSPERO
coiled coil region	1071	1109	N/A	INTRINSIC
low complexity region	1140	1156	N/A	INTRINSIC
internal_repeat_1	1176	1206	8.72e-8	PROSPERO
coiled coil region	1221	1250	N/A	INTRINSIC
Pfam:CEP209_CC5	1290	1417	3.8e-55	PFAM
low complexity region	1476	1493	N/A	INTRINSIC
internal_repeat_1	1498	1525	8.72e-8	PROSPERO
coiled coil region	1535	1595	N/A	INTRINSIC
coiled coil region	1624	1716	N/A	INTRINSIC
coiled coil region	1776	2328	N/A	INTRINSIC
low complexity region	2333	2347	N/A	INTRINSIC
coiled coil region	2377	2453	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218156

Predicted Effect

probably benign
Transcript: ENSMUST00000218328

Predicted Effect

probably benign
Transcript: ENSMUST00000218821
AA Change: I139V

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219643

Predicted Effect

probably benign
Transcript: ENSMUST00000219765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219995

Predicted Effect

probably benign
Transcript: ENSMUST00000220346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219790

Meta Mutation Damage Score

0.0736

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,709 (GRCm39)	V56A	probably damaging	Het
Acyp1	A	G	12: 85,325,717 (GRCm39)		probably benign	Het
Adgrb1	A	T	15: 74,459,963 (GRCm39)	K532I	probably damaging	Het
Ahrr	T	A	13: 74,372,885 (GRCm39)		silent	Het
Asz1	T	C	6: 18,055,541 (GRCm39)		probably benign	Het
AW554918	T	C	18: 25,472,852 (GRCm39)	Y219H	probably benign	Het
Ccno	C	A	13: 113,125,543 (GRCm39)		probably null	Het
Cdh17	A	T	4: 11,817,036 (GRCm39)	N816Y	possibly damaging	Het
Clca4a	C	T	3: 144,660,701 (GRCm39)	V708I	probably damaging	Het
Col6a3	T	A	1: 90,701,179 (GRCm39)	Y2579F	unknown	Het
Col6a4	A	G	9: 105,957,329 (GRCm39)	V165A	probably benign	Het
Csf1r	T	A	18: 61,257,983 (GRCm39)	C651S	probably damaging	Het
Cyp4f14	T	C	17: 33,126,985 (GRCm39)	D315G	probably null	Het
Def6	A	G	17: 28,436,609 (GRCm39)	D91G	probably damaging	Het
Dmxl1	T	G	18: 50,011,088 (GRCm39)	S1082A	probably damaging	Het
Dnah2	A	T	11: 69,349,768 (GRCm39)	Y2392N	probably damaging	Het
Dsg4	T	C	18: 20,594,466 (GRCm39)	S532P	probably benign	Het
Efr3a	C	A	15: 65,691,650 (GRCm39)	S126R	probably damaging	Het
Gab1	A	C	8: 81,515,261 (GRCm39)	H352Q	probably benign	Het
Gm1110	A	G	9: 26,831,890 (GRCm39)	M87T	probably damaging	Het
Greb1	C	T	12: 16,761,774 (GRCm39)	M535I	possibly damaging	Het
Greb1l	T	A	18: 10,529,563 (GRCm39)		probably null	Het
Gucy2d	T	C	7: 98,102,650 (GRCm39)	C487R	probably benign	Het
H1f7	A	T	15: 98,154,921 (GRCm39)	I76N	probably damaging	Het
Lrrc2	A	T	9: 110,791,614 (GRCm39)	H122L	possibly damaging	Het
Mrps22	A	T	9: 98,480,359 (GRCm39)		probably null	Het
Mxd3	T	C	13: 55,473,613 (GRCm39)	T202A	probably benign	Het
Neb	T	C	2: 52,134,074 (GRCm39)	H3303R	possibly damaging	Het
Nup133	G	A	8: 124,657,721 (GRCm39)	R405*	probably null	Het
Or13a19	T	C	7: 139,902,681 (GRCm39)	L23P	probably benign	Het
Or14j6	A	G	17: 38,215,039 (GRCm39)	T201A	probably benign	Het
Pard3b	T	C	1: 62,255,675 (GRCm39)	Y629H	probably benign	Het
Pcnx1	A	G	12: 82,033,446 (GRCm39)	D1781G	probably benign	Het
Pcsk5	A	T	19: 17,450,405 (GRCm39)	C1148S	probably damaging	Het
Pcsk9	A	T	4: 106,316,092 (GRCm39)	I117N	possibly damaging	Het
Pcyt1b	C	A	X: 92,789,970 (GRCm39)	P318H	probably damaging	Het
Pfkfb2	T	A	1: 130,634,221 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,114,901 (GRCm39)	E1456G	possibly damaging	Het
Sh2b2	C	T	5: 136,260,574 (GRCm39)	C214Y	probably damaging	Het
Slc52a2	C	A	15: 76,424,433 (GRCm39)	P224T	probably damaging	Het
Slf2	C	G	19: 44,923,920 (GRCm39)	R245G	probably benign	Het
Sox5	T	C	6: 143,779,193 (GRCm39)	S648G	probably damaging	Het
Stk36	T	A	1: 74,673,344 (GRCm39)	I1079N	probably benign	Het
Stxbp3	T	C	3: 108,708,188 (GRCm39)	D371G	probably damaging	Het
Trnau1ap	A	T	4: 132,049,063 (GRCm39)	Y47N	probably damaging	Het
Ubr5	C	T	15: 38,038,211 (GRCm39)	R316H	probably damaging	Het
Vmn1r230	C	T	17: 21,067,515 (GRCm39)	R235C	probably benign	Het
Wnt10a	C	T	1: 74,842,296 (GRCm39)	H93Y	unknown	Het
Zfp1005	T	A	2: 150,108,390 (GRCm39)	H50Q	possibly damaging	Het
Zfp52	A	G	17: 21,781,769 (GRCm39)	D539G	probably benign	Het

Other mutations in Rlig1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Rlig1	APN	10	100,409,473 (GRCm39)	missense	probably damaging	0.97
IGL01775:Rlig1	APN	10	100,419,799 (GRCm39)	missense	probably benign	0.41
PIT4495001:Rlig1	UTSW	10	100,419,812 (GRCm39)	missense	probably damaging	1.00
R0206:Rlig1	UTSW	10	100,422,056 (GRCm39)	nonsense	probably null
R0731:Rlig1	UTSW	10	100,422,065 (GRCm39)	missense	probably damaging	1.00
R1955:Rlig1	UTSW	10	100,413,166 (GRCm39)	missense	probably damaging	1.00
R2011:Rlig1	UTSW	10	100,419,820 (GRCm39)	missense	probably damaging	0.99
R4680:Rlig1	UTSW	10	100,414,243 (GRCm39)	missense	probably benign	0.07
R4682:Rlig1	UTSW	10	100,414,243 (GRCm39)	missense	probably benign	0.07
R4708:Rlig1	UTSW	10	100,414,243 (GRCm39)	missense	probably benign	0.07
R4709:Rlig1	UTSW	10	100,414,243 (GRCm39)	missense	probably benign	0.07
R4742:Rlig1	UTSW	10	100,414,243 (GRCm39)	missense	probably benign	0.07
R4743:Rlig1	UTSW	10	100,414,243 (GRCm39)	missense	probably benign	0.07
R6716:Rlig1	UTSW	10	100,409,478 (GRCm39)	missense	probably benign	0.00
R7185:Rlig1	UTSW	10	100,425,073 (GRCm39)	start gained	probably benign
R8103:Rlig1	UTSW	10	100,413,110 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAAGTCGCTCTAAGCAATATCTG -3'
(R):5'- AGACGGTAGTGTGCAACGTG -3'

Sequencing Primer
(F):5'- GTCGCTCTAAGCAATATCTGATAAAG -3'
(R):5'- CAACGTGGTAGTGTACTAAAAGTTGC -3'

Posted On

2015-10-08