Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Tut1'

20248

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

038378-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R0091 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

8931211-8943574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8942800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 629 (V629A)

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 damaging
Transcript: ENSMUST00000096239
AA Change: V629A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
AA Change: V629A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152076

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,932,179 (GRCm39)	S278P	possibly damaging	Het
Adam11	A	G	11: 102,663,665 (GRCm39)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,507,849 (GRCm39)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,091,368 (GRCm39)		probably null	Het
Adrb2	A	G	18: 62,312,090 (GRCm39)	L245P	probably benign	Het
Aebp2	T	C	6: 140,589,800 (GRCm39)		probably null	Het
Arhgap23	A	G	11: 97,343,070 (GRCm39)	T240A	probably benign	Het
Atp10a	T	C	7: 58,423,794 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,274,213 (GRCm39)	Y416F	probably damaging	Het
Atp5mc2	A	C	15: 102,571,492 (GRCm39)	L133R	probably damaging	Het
Bicral	A	T	17: 47,136,233 (GRCm39)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,757,297 (GRCm39)	S189G	probably damaging	Het
Cnot1	A	T	8: 96,489,772 (GRCm39)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,796,574 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,415,301 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,342,551 (GRCm39)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,473,974 (GRCm39)		probably benign	Het
Egln3	A	G	12: 54,228,432 (GRCm39)	F225L	probably benign	Het
Erap1	G	A	13: 74,816,171 (GRCm39)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,498,781 (GRCm39)		probably null	Het
Fto	G	A	8: 92,168,435 (GRCm39)		probably null	Het
Gdap1l1	C	T	2: 163,288,011 (GRCm39)	P80S	probably damaging	Het
Gm1123	T	C	9: 98,905,405 (GRCm39)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,288,156 (GRCm39)		probably benign	Het
Ift80	A	T	3: 68,822,008 (GRCm39)	L679Q	probably damaging	Het
Il18	A	G	9: 50,488,013 (GRCm39)		probably benign	Het
Inhbb	T	C	1: 119,345,125 (GRCm39)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,742,360 (GRCm39)		probably benign	Het
Krt20	A	G	11: 99,328,640 (GRCm39)	V95A	probably damaging	Het
Lck	A	T	4: 129,449,474 (GRCm39)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,376,848 (GRCm39)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,043,311 (GRCm39)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,840,507 (GRCm39)	C1000R	probably damaging	Het
Matn3	G	A	12: 9,002,105 (GRCm39)	D106N	probably damaging	Het
Mical2	A	G	7: 111,980,503 (GRCm39)	E49G	probably benign	Het
Mmadhc	A	G	2: 50,182,869 (GRCm39)	S36P	probably damaging	Het
Morn1	T	C	4: 155,229,629 (GRCm39)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,692,436 (GRCm39)	M525V	probably benign	Het
Myo5a	C	T	9: 75,068,774 (GRCm39)	R659C	probably damaging	Het
Obox6	T	C	7: 15,568,364 (GRCm39)	S171G	probably benign	Het
Or1j18	A	G	2: 36,624,917 (GRCm39)	N195D	probably damaging	Het
Or4k36	T	A	2: 111,146,518 (GRCm39)	D231E	probably benign	Het
Or5g29	A	T	2: 85,421,696 (GRCm39)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,023,314 (GRCm39)	Y49H	probably benign	Het
Papss2	C	T	19: 32,611,302 (GRCm39)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,135,392 (GRCm39)	T206A	probably benign	Het
Pex6	A	G	17: 47,022,844 (GRCm39)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prdx2	T	G	8: 85,698,330 (GRCm39)		probably benign	Het
Ptbp2	A	T	3: 119,514,310 (GRCm39)	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,557,604 (GRCm39)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,809,791 (GRCm39)		probably null	Het
Rora	G	A	9: 69,281,330 (GRCm39)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,168,095 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,742,402 (GRCm39)	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,231,423 (GRCm39)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,254,537 (GRCm39)	N578S	probably benign	Het
Soat2	A	G	15: 102,066,574 (GRCm39)	Y285C	probably damaging	Het
Syk	A	G	13: 52,794,769 (GRCm39)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,412,036 (GRCm39)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,199,910 (GRCm39)	D218G	probably damaging	Het
Txndc11	T	C	16: 10,905,968 (GRCm39)	N521D	probably benign	Het
Ushbp1	T	C	8: 71,841,614 (GRCm39)	E405G	possibly damaging	Het
Usp46	C	T	5: 74,163,918 (GRCm39)	R246Q	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,262,075 (GRCm39)	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,715,890 (GRCm39)	T398I	probably benign	Het
Ythdc1	T	A	5: 86,968,560 (GRCm39)		probably benign	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
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
R7084:Tut1	UTSW	19	8,942,778 (GRCm39)	missense	probably benign
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'- AGTTACTGCCGAAGTCTCCAGTACC -3'
(R):5'- TTGCAGTCATCAGGGGCAACTC -3'

Sequencing Primer
(F):5'- TCCAGTACCAGCAGCGTTC -3'
(R):5'- TGGTCCCGAGTGCAACAAG -3'

Posted On

2013-04-11