Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Tut1'

550242

Institutional Source

Beutler Lab

Gene Symbol

Tut1

Ensembl Gene

ENSMUSG00000071645

Gene Name

terminal uridylyl transferase 1, U6 snRNA-specific

Synonyms

PAPD2, Rbm21, 2700038E08Rik, TUTase6

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.571) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8953850-8966207 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8965811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 754 (H754R)

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: H754R

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

SMART Domains

Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
AA Change: H754R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	C	A	7: 127,384,362	A523S	possibly damaging	Het
Abhd18	A	C	3: 40,916,738	I111L	probably damaging	Het
Ank1	A	G	8: 23,058,663	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692	K205E	probably benign	Het
Brca1	T	A	11: 101,526,427	M294L	probably benign	Het
Capn1	A	G	19: 5,991,556	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,940,806	D377E	probably benign	Het
Col6a2	C	T	10: 76,615,091	V39I	unknown	Het
Crybg3	T	A	16: 59,557,168	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,816,142	K3380R	probably benign	Het
Eml5	T	C	12: 98,802,474	I1400M	probably benign	Het
Fancd2	A	G	6: 113,545,101	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676	S1973G	probably benign	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
G3bp1	T	A	11: 55,496,221	H271Q	possibly damaging	Het
Glce	A	G	9: 62,060,588	V427A	probably damaging	Het
Gm4778	T	C	3: 94,266,638	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875	F746L	unknown	Het
Ivl	T	C	3: 92,572,242	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,630,184	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728	L206M	probably damaging	Het
Msln	A	T	17: 25,750,080	C444S	probably damaging	Het
Mta1	A	G	12: 113,136,402	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Naa15	T	C	3: 51,458,756		probably null	Het
Nadk	A	G	4: 155,587,758	H302R	probably benign	Het
Neb	T	A	2: 52,256,112	N15I		Het
Nup153	A	T	13: 46,683,928	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191		probably null	Het
Tdp2	T	A	13: 24,838,224	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512		probably benign	Het
Tmprss4	A	T	9: 45,184,273	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568	T33025S	probably benign	Het
Vmn2r27	T	G	6: 124,223,945	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395	H278L	probably damaging	Het

Other mutations in Tut1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Tut1	APN	19	8959096	missense	probably damaging	1.00
IGL01934:Tut1	APN	19	8953991	missense	probably damaging	1.00
IGL01980:Tut1	APN	19	8954000	missense	probably damaging	1.00
IGL02115:Tut1	APN	19	8965312	missense	probably damaging	1.00
IGL02375:Tut1	APN	19	8964039	missense	probably damaging	1.00
IGL02683:Tut1	APN	19	8965258	missense	probably benign	0.31
IGL02899:Tut1	APN	19	8962387	missense	probably damaging	1.00
IGL02953:Tut1	APN	19	8962692	missense	probably damaging	1.00
PIT4280001:Tut1	UTSW	19	8959262	missense	probably benign	0.00
R0014:Tut1	UTSW	19	8962447	missense	possibly damaging	0.61
R0014:Tut1	UTSW	19	8962447	missense	possibly damaging	0.61
R0033:Tut1	UTSW	19	8962759	missense	probably benign	0.03
R0091:Tut1	UTSW	19	8965436	missense	probably damaging	0.97
R0173:Tut1	UTSW	19	8965483	nonsense	probably null
R0362:Tut1	UTSW	19	8955527	missense	possibly damaging	0.94
R0371:Tut1	UTSW	19	8962773	missense	probably damaging	0.98
R0386:Tut1	UTSW	19	8955555	missense	probably benign	0.00
R1022:Tut1	UTSW	19	8959355	missense	probably benign
R1024:Tut1	UTSW	19	8959355	missense	probably benign
R1539:Tut1	UTSW	19	8965486	missense	probably benign	0.02
R1921:Tut1	UTSW	19	8966102	missense	probably benign
R1958:Tut1	UTSW	19	8959313	missense	probably damaging	1.00
R2508:Tut1	UTSW	19	8955567	missense	probably damaging	0.98
R4757:Tut1	UTSW	19	8959308	missense	possibly damaging	0.83
R5104:Tut1	UTSW	19	8959334	missense	probably benign	0.03
R5185:Tut1	UTSW	19	8955450	missense	probably benign	0.07
R6999:Tut1	UTSW	19	8966018	missense	probably damaging	1.00
R7084:Tut1	UTSW	19	8965414	missense	probably benign
R7313:Tut1	UTSW	19	8964049	missense	probably benign	0.00
R7361:Tut1	UTSW	19	8965334	missense	probably damaging	1.00
R7730:Tut1	UTSW	19	8964376	critical splice donor site	probably null
R7731:Tut1	UTSW	19	8959262	missense	probably benign	0.01
R8021:Tut1	UTSW	19	8955509	missense	probably benign	0.32
R8355:Tut1	UTSW	19	8959262	missense	probably benign
R8455:Tut1	UTSW	19	8959262	missense	probably benign
R8989:Tut1	UTSW	19	8959752	missense	possibly damaging	0.89
R9581:Tut1	UTSW	19	8964617	missense	probably benign	0.07
Z1177:Tut1	UTSW	19	8965232	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGGTTCGAGAGACACCTCAG -3'
(R):5'- ACAGTGAGTGTCTGCTCAGC -3'

Sequencing Primer
(F):5'- TTCGAGAGACACCTCAGGACTG -3'
(R):5'- GCAGATGCCACAAAGCTG -3'

Posted On

2019-05-15