Mutagenetix > Incidental Mutation

Incidental Mutation 'R8989:Tut1'

684322

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

068821-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R8989 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8931211-8943574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8937116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 200 (V200A)

Ref Sequence

ENSEMBL: ENSMUSP00000093958 (fasta)

Gene Model

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

AlphaFold

Q8R3F9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096239
AA Change: V200A

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
AA Change: V200A

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

0.1706

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,760,724 (GRCm39)	I1260M	probably benign	Het
A1cf	T	A	19: 31,904,556 (GRCm39)	F273Y	possibly damaging	Het
A3galt2	T	C	4: 128,655,231 (GRCm39)	W45R	probably damaging	Het
Adam23	A	G	1: 63,588,948 (GRCm39)	E460G	probably damaging	Het
Ago1	T	A	4: 126,357,583 (GRCm39)	T31S	probably benign	Het
Ago3	T	A	4: 126,298,191 (GRCm39)	T110S	probably damaging	Het
Akap6	T	C	12: 52,927,654 (GRCm39)	F188S	probably damaging	Het
Asic2	G	A	11: 81,043,180 (GRCm39)	P38S	probably benign	Het
Astn2	A	T	4: 65,499,890 (GRCm39)	C1000S	possibly damaging	Het
Atp10b	T	A	11: 43,136,269 (GRCm39)	C1132*	probably null	Het
Atp7b	A	T	8: 22,510,911 (GRCm39)	S527T	probably benign	Het
Bod1l	G	A	5: 41,979,025 (GRCm39)	T763I	probably benign	Het
Capn11	A	G	17: 45,954,783 (GRCm39)	L118P	probably damaging	Het
Col13a1	T	C	10: 61,696,250 (GRCm39)	E589G	unknown	Het
Col6a2	T	C	10: 76,440,015 (GRCm39)	D630G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,660 (GRCm39)	R423H	probably damaging	Het
Dld	G	A	12: 31,383,458 (GRCm39)	T447I	probably damaging	Het
Eif4g3	T	C	4: 137,912,059 (GRCm39)	L1227S	probably damaging	Het
Elac1	C	A	18: 73,880,310 (GRCm39)	E29*	probably null	Het
Entrep1	T	A	19: 23,962,196 (GRCm39)	Q269L	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fancc	G	T	13: 63,548,090 (GRCm39)	L70M	possibly damaging	Het
Fgd6	T	A	10: 93,959,425 (GRCm39)	M1041K	probably damaging	Het
Fn1	A	G	1: 71,663,446 (GRCm39)	V1014A	possibly damaging	Het
Galnt1	C	T	18: 24,402,567 (GRCm39)	T308I	possibly damaging	Het
Garre1	T	C	7: 33,956,869 (GRCm39)	Q332R	probably damaging	Het
Gpr63	T	A	4: 25,007,357 (GRCm39)	V27D	possibly damaging	Het
Hcfc2	T	C	10: 82,536,822 (GRCm39)	V78A	probably damaging	Het
Hexd	T	A	11: 121,109,136 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,668,960 (GRCm39)	T479A	possibly damaging	Het
Hkdc1	T	C	10: 62,229,544 (GRCm39)	D711G	probably damaging	Het
Ifna16	A	T	4: 88,594,912 (GRCm39)	F61Y	probably damaging	Het
Insrr	T	A	3: 87,722,664 (GRCm39)	N1295K	probably damaging	Het
Kif5b	T	A	18: 6,209,021 (GRCm39)	R914W	probably damaging	Het
Lpo	T	C	11: 87,708,660 (GRCm39)	T113A	probably benign	Het
Mmp21	T	C	7: 133,276,746 (GRCm39)	D419G	probably damaging	Het
Naf1	A	G	8: 67,313,628 (GRCm39)	T204A	possibly damaging	Het
Nsmce4a	T	C	7: 130,141,587 (GRCm39)	T201A	probably benign	Het
Nup160	T	A	2: 90,548,208 (GRCm39)	N980K	probably damaging	Het
Odad2	T	C	18: 7,268,464 (GRCm39)	K352E	probably benign	Het
Or13c7d	T	C	4: 43,770,346 (GRCm39)	I222V	possibly damaging	Het
Or14j2	A	T	17: 37,885,542 (GRCm39)	F257L	probably benign	Het
Or2d3c	T	A	7: 106,526,366 (GRCm39)	Q100L	probably damaging	Het
Pcdhb19	A	G	18: 37,631,476 (GRCm39)	T424A	probably benign	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Pramel28	C	A	4: 143,691,770 (GRCm39)	A318S	probably benign	Het
Psma8	T	A	18: 14,890,404 (GRCm39)	D181E	probably benign	Het
Rhpn2	C	A	7: 35,053,446 (GRCm39)		probably benign	Het
Serpinb6e	G	T	13: 34,022,967 (GRCm39)	H139N	possibly damaging	Het
Slc26a7	T	A	4: 14,533,642 (GRCm39)	I394F	probably damaging	Het
Spmip5	T	C	19: 58,776,153 (GRCm39)	E100G	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Taok3	T	C	5: 117,379,227 (GRCm39)	S421P	probably benign	Het
Tas2r143	T	G	6: 42,377,828 (GRCm39)	D219E	probably damaging	Het
Tcaf1	G	A	6: 42,663,707 (GRCm39)	R58C	probably damaging	Het
Tenm3	A	T	8: 48,688,383 (GRCm39)	Y2401*	probably null	Het
Unc5c	T	A	3: 141,509,467 (GRCm39)		probably benign	Het
Vmn2r28	T	G	7: 5,493,473 (GRCm39)	I158L	probably benign	Het
Vmn2r72	T	A	7: 85,404,134 (GRCm39)	H19L	probably benign	Het
Xpo4	A	G	14: 57,828,475 (GRCm39)	M795T	probably benign	Het
Zc3h12a	C	A	4: 125,014,743 (GRCm39)	R247L	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	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
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
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'- GTTCTTGAATGGGGAGCTCC -3'
(R):5'- GTTAAGAACCATCATGTCTACCTG -3'

Sequencing Primer
(F):5'- CTATGTTCAGACGAGTGGCAC -3'
(R):5'- GTCACACAACTGCATGCT -3'

Posted On

2021-10-11