Mutagenetix > Incidental Mutation

Incidental Mutation 'R7084:Tut1'

549793

Institutional Source

Beutler Lab

Gene Symbol

Tut1

Ensembl Gene

ENSMUSG00000071645

Gene Name

terminal uridylyl transferase 1, U6 snRNA-specific

Synonyms

Rbm21, 2700038E08Rik, PAPD2, TUTase6, Tent1

MMRRC Submission

045178-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.455) question?

Stock #

R7084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8931211-8943574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8942778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 622 (V622I)

Ref Sequence

ENSEMBL: ENSMUSP00000093958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052248] [ENSMUST00000096239]

AlphaFold

Q8R3F9

Predicted Effect

probably benign
Transcript: ENSMUST00000052248

SMART Domains

Protein: ENSMUSP00000093955
Gene: ENSMUSG00000071644

Domain	Start	End	E-Value	Type
Pfam:GST_N	2	81	1.5e-25	PFAM
Pfam:GST_N_3	6	83	1.4e-8	PFAM
Pfam:GST_C_3	88	194	8.3e-13	PFAM
Pfam:GST_C	106	198	4.5e-22	PFAM
Pfam:GST_C_2	125	191	8.6e-12	PFAM
low complexity region	238	262	N/A	INTRINSIC
EF1G	275	381	3.63e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096239
AA Change: V622I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
AA Change: V622I

Domain	Start	End	E-Value	Type
ZnF_C2H2	16	40	1.53e-1	SMART
RRM	57	124	2.02e-10	SMART
SCOP:d1f5aa2	173	221	1e-3	SMART
low complexity region	242	258	N/A	INTRINSIC
low complexity region	300	314	N/A	INTRINSIC
low complexity region	324	347	N/A	INTRINSIC
low complexity region	423	434	N/A	INTRINSIC
Pfam:PAP_assoc	493	552	2.7e-8	PFAM
low complexity region	594	618	N/A	INTRINSIC
low complexity region	767	782	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	T	13: 119,624,721 (GRCm39)	D8E	unknown	Het
Abca5	T	A	11: 110,192,371 (GRCm39)	I714L	probably benign	Het
Abce1	T	A	8: 80,426,043 (GRCm39)	S245C	probably benign	Het
Abcg1	T	A	17: 31,325,105 (GRCm39)	D310E	probably benign	Het
Adhfe1	T	A	1: 9,637,030 (GRCm39)	I394N	probably benign	Het
Apob	A	T	12: 8,059,591 (GRCm39)	D2691V	probably benign	Het
Arhgap18	A	G	10: 26,748,734 (GRCm39)	T340A	possibly damaging	Het
Arsb	A	T	13: 94,077,124 (GRCm39)	Q497L	probably benign	Het
Asic5	T	C	3: 81,919,318 (GRCm39)	I354T	probably benign	Het
Atp6v0a1	T	C	11: 100,924,868 (GRCm39)	C318R	probably damaging	Het
Cftr	T	C	6: 18,226,137 (GRCm39)	Y362H	probably benign	Het
Crip3	T	C	17: 46,741,716 (GRCm39)	Y113H	probably benign	Het
Dcaf4	AT	A	12: 83,584,571 (GRCm39)		probably null	Het
Dock10	T	A	1: 80,481,573 (GRCm39)	I475F		Het
Dqx1	T	A	6: 83,043,436 (GRCm39)	Y674N	probably damaging	Het
Dync2h1	G	T	9: 7,113,214 (GRCm39)	Q2437K	possibly damaging	Het
Ednra	A	T	8: 78,391,734 (GRCm39)	C385*	probably null	Het
Fam216a	G	A	5: 122,507,623 (GRCm39)	T68I	probably benign	Het
Fbxw22	A	G	9: 109,233,291 (GRCm39)	L14P	probably damaging	Het
Fem1al	G	T	11: 29,775,009 (GRCm39)	H149Q	probably damaging	Het
Fkbp10	A	G	11: 100,312,129 (GRCm39)	I230V	possibly damaging	Het
Ggn	C	A	7: 28,872,423 (GRCm39)	A637E	probably damaging	Het
Hcrtr2	T	C	9: 76,137,942 (GRCm39)	D391G	probably benign	Het
Heatr5b	A	T	17: 79,117,992 (GRCm39)	V817D	possibly damaging	Het
Il1f10	G	A	2: 24,183,682 (GRCm39)	W120*	probably null	Het
Irf5	C	A	6: 29,535,876 (GRCm39)	R297S	probably damaging	Het
Jak2	A	G	19: 29,263,798 (GRCm39)	T438A	possibly damaging	Het
Jsrp1	T	C	10: 80,644,410 (GRCm39)	D332G	possibly damaging	Het
Kank4	A	T	4: 98,659,582 (GRCm39)	V832D	probably damaging	Het
Kcnip3	C	T	2: 127,352,856 (GRCm39)	S25N	probably benign	Het
Klk1b16	C	T	7: 43,788,910 (GRCm39)	H48Y	probably benign	Het
Klrh1	C	A	6: 129,743,673 (GRCm39)	A204S	possibly damaging	Het
Krtap5-4	G	A	7: 141,857,609 (GRCm39)	C93Y	unknown	Het
Lacc1	T	A	14: 77,267,096 (GRCm39)	Q389L	probably benign	Het
Lin9	C	A	1: 180,515,661 (GRCm39)	T477K	probably benign	Het
Lpar2	A	T	8: 70,276,256 (GRCm39)	N15I	probably damaging	Het
Ltbp2	C	A	12: 84,915,459 (GRCm39)	C200F	probably damaging	Het
Mall	G	T	2: 127,550,793 (GRCm39)	H122Q	probably benign	Het
Mast3	T	C	8: 71,232,117 (GRCm39)	I1287V	probably benign	Het
Mindy4	T	C	6: 55,255,220 (GRCm39)	I566T	probably benign	Het
Mme	T	C	3: 63,235,638 (GRCm39)	Y195H	probably damaging	Het
Mpzl1	T	C	1: 165,432,267 (GRCm39)	T173A	probably benign	Het
Mri1	G	T	8: 84,977,708 (GRCm39)	T209N		Het
Myo1e	A	G	9: 70,245,083 (GRCm39)	I394V	probably damaging	Het
Nat14	T	C	7: 4,927,329 (GRCm39)	V167A	possibly damaging	Het
Nfasc	A	G	1: 132,498,247 (GRCm39)	Y1212H	unknown	Het
Nsun7	T	A	5: 66,452,764 (GRCm39)	L493Q	probably damaging	Het
Obsl1	A	T	1: 75,464,394 (GRCm39)	S1637R	probably benign	Het
Ocstamp	A	T	2: 165,239,957 (GRCm39)	Y76*	probably null	Het
Or5b95	A	C	19: 12,658,198 (GRCm39)	H242P	probably damaging	Het
Or6c2b	T	A	10: 128,947,416 (GRCm39)	K293*	probably null	Het
Or8b52	G	A	9: 38,576,565 (GRCm39)	R192C	probably benign	Het
Otog	T	A	7: 45,947,990 (GRCm39)	C145*	probably null	Het
Padi6	T	A	4: 140,468,869 (GRCm39)	K5*	probably null	Het
Pcdha5	T	A	18: 37,094,615 (GRCm39)	S375T	probably benign	Het
Pde10a	C	T	17: 9,159,994 (GRCm39)	P140S	probably benign	Het
Pgbd1	C	G	13: 21,607,300 (GRCm39)	C298S	possibly damaging	Het
Plch2	C	T	4: 155,071,448 (GRCm39)	G977D	probably benign	Het
Pou2f3	T	C	9: 43,040,188 (GRCm39)	T367A	probably damaging	Het
Ppm1j	T	A	3: 104,692,276 (GRCm39)	Y352N	probably damaging	Het
Prkag2	T	C	5: 25,226,967 (GRCm39)	T97A	probably benign	Het
Rpl36a-ps1	T	A	14: 99,231,660 (GRCm39)	Y26F	probably benign	Het
Sctr	A	T	1: 119,991,001 (GRCm39)	N445Y	possibly damaging	Het
Serping1	C	T	2: 84,603,835 (GRCm39)	V69I	probably benign	Het
Slc8a2	T	A	7: 15,878,963 (GRCm39)	L483Q	probably benign	Het
Spag17	T	C	3: 99,846,586 (GRCm39)	F37L	probably benign	Het
Srrm2	T	A	17: 24,039,290 (GRCm39)	M1978K	probably damaging	Het
Tcp11	T	C	17: 28,285,995 (GRCm39)	Q540R	probably benign	Het
Thnsl1	G	T	2: 21,217,141 (GRCm39)	R298S	possibly damaging	Het
Tigd5	T	A	15: 75,782,230 (GRCm39)	Y197*	probably null	Het
Tmprss11g	A	T	5: 86,640,059 (GRCm39)	L203Q	probably damaging	Het
Trim35	T	A	14: 66,546,271 (GRCm39)	V346E	probably damaging	Het
Ttn	T	C	2: 76,598,708 (GRCm39)	I19402V	possibly damaging	Het
Ttn	C	T	2: 76,749,689 (GRCm39)	E3787K	probably benign	Het
Vmn1r2	A	G	4: 3,172,134 (GRCm39)	I18V	probably benign	Het
Zbbx	T	C	3: 75,046,853 (GRCm39)	N22S	possibly damaging	Het
Zfp169	A	C	13: 48,652,339 (GRCm39)	M26R	probably benign	Het
Zfp180	T	A	7: 23,804,686 (GRCm39)	H368Q	probably damaging	Het
Zfp638	T	A	6: 83,930,108 (GRCm39)	S770T	possibly damaging	Het
Znrf1	T	C	8: 112,263,774 (GRCm39)	M1T	probably null	Het

Other mutations in Tut1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Tut1	APN	19	8,936,460 (GRCm39)	missense	probably damaging	1.00
IGL01934:Tut1	APN	19	8,931,355 (GRCm39)	missense	probably damaging	1.00
IGL01980:Tut1	APN	19	8,931,364 (GRCm39)	missense	probably damaging	1.00
IGL02115:Tut1	APN	19	8,942,676 (GRCm39)	missense	probably damaging	1.00
IGL02375:Tut1	APN	19	8,941,403 (GRCm39)	missense	probably damaging	1.00
IGL02683:Tut1	APN	19	8,942,622 (GRCm39)	missense	probably benign	0.31
IGL02899:Tut1	APN	19	8,939,751 (GRCm39)	missense	probably damaging	1.00
IGL02953:Tut1	APN	19	8,940,056 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Tut1	UTSW	19	8,936,626 (GRCm39)	missense	probably benign	0.00
R0014:Tut1	UTSW	19	8,939,811 (GRCm39)	missense	possibly damaging	0.61
R0014:Tut1	UTSW	19	8,939,811 (GRCm39)	missense	possibly damaging	0.61
R0033:Tut1	UTSW	19	8,940,123 (GRCm39)	missense	probably benign	0.03
R0091:Tut1	UTSW	19	8,942,800 (GRCm39)	missense	probably damaging	0.97
R0173:Tut1	UTSW	19	8,942,847 (GRCm39)	nonsense	probably null
R0362:Tut1	UTSW	19	8,932,891 (GRCm39)	missense	possibly damaging	0.94
R0371:Tut1	UTSW	19	8,940,137 (GRCm39)	missense	probably damaging	0.98
R0386:Tut1	UTSW	19	8,932,919 (GRCm39)	missense	probably benign	0.00
R1022:Tut1	UTSW	19	8,936,719 (GRCm39)	missense	probably benign
R1024:Tut1	UTSW	19	8,936,719 (GRCm39)	missense	probably benign
R1539:Tut1	UTSW	19	8,942,850 (GRCm39)	missense	probably benign	0.02
R1921:Tut1	UTSW	19	8,943,466 (GRCm39)	missense	probably benign
R1958:Tut1	UTSW	19	8,936,677 (GRCm39)	missense	probably damaging	1.00
R2508:Tut1	UTSW	19	8,932,931 (GRCm39)	missense	probably damaging	0.98
R4757:Tut1	UTSW	19	8,936,672 (GRCm39)	missense	possibly damaging	0.83
R5104:Tut1	UTSW	19	8,936,698 (GRCm39)	missense	probably benign	0.03
R5185:Tut1	UTSW	19	8,932,814 (GRCm39)	missense	probably benign	0.07
R6999:Tut1	UTSW	19	8,943,382 (GRCm39)	missense	probably damaging	1.00
R7091:Tut1	UTSW	19	8,943,175 (GRCm39)	missense	probably benign
R7313:Tut1	UTSW	19	8,941,413 (GRCm39)	missense	probably benign	0.00
R7361:Tut1	UTSW	19	8,942,698 (GRCm39)	missense	probably damaging	1.00
R7730:Tut1	UTSW	19	8,941,740 (GRCm39)	critical splice donor site	probably null
R7731:Tut1	UTSW	19	8,936,626 (GRCm39)	missense	probably benign	0.01
R8021:Tut1	UTSW	19	8,932,873 (GRCm39)	missense	probably benign	0.32
R8355:Tut1	UTSW	19	8,936,626 (GRCm39)	missense	probably benign
R8455:Tut1	UTSW	19	8,936,626 (GRCm39)	missense	probably benign
R8989:Tut1	UTSW	19	8,937,116 (GRCm39)	missense	possibly damaging	0.89
R9581:Tut1	UTSW	19	8,941,981 (GRCm39)	missense	probably benign	0.07
Z1177:Tut1	UTSW	19	8,942,596 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAACGTCTGCAGAGCTGTTG -3'
(R):5'- TGAGGTGTCTCTCGAACCTC -3'

Sequencing Primer
(F):5'- CTGTTGTGGGGCAGCAGC -3'
(R):5'- GAGGTGTCTCTCGAACCTCTATTAC -3'

Posted On

2019-05-15