Mutagenetix > Incidental Mutation

Incidental Mutation 'R4757:Tut1'

358276

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

041973-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R4757 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8931211-8943574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8936672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 165 (K165N)

Ref Sequence

ENSEMBL: ENSMUSP00000093958 (fasta)

Gene Model

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

AlphaFold

Q8R3F9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096239
AA Change: K165N

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
AA Change: K165N

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Abcb1a	T	A	5: 8,787,632 (GRCm39)	V978D	probably damaging	Het
Acsm4	T	C	7: 119,297,900 (GRCm39)	V179A	probably benign	Het
Agtr1a	C	A	13: 30,565,842 (GRCm39)	Y302*	probably null	Het
Akap9	T	C	5: 4,058,382 (GRCm39)	I1677T	probably damaging	Het
Ankk1	T	A	9: 49,327,230 (GRCm39)	M650L	probably benign	Het
Apod	T	A	16: 31,122,280 (GRCm39)	N65Y	probably damaging	Het
Bcl2l1	T	A	2: 152,624,178 (GRCm39)	N197Y	possibly damaging	Het
Brpf1	A	T	6: 113,292,072 (GRCm39)	I373F	probably damaging	Het
Car13	T	C	3: 14,726,615 (GRCm39)	V257A	probably damaging	Het
Ccdc150	A	T	1: 54,317,874 (GRCm39)	H271L	possibly damaging	Het
Cit	T	A	5: 116,135,608 (GRCm39)	I1836N	probably damaging	Het
Clec12b	A	G	6: 129,357,655 (GRCm39)	S68P	probably damaging	Het
Col4a4	A	G	1: 82,506,187 (GRCm39)	F298L	unknown	Het
Crct1	G	A	3: 92,922,093 (GRCm39)	Q15*	probably null	Het
Creld1	A	G	6: 113,469,208 (GRCm39)	E346G	probably benign	Het
Ctnnal1	T	A	4: 56,847,980 (GRCm39)	H53L	probably damaging	Het
Cyb5d1	T	C	11: 69,285,814 (GRCm39)	D74G	probably damaging	Het
Deptor	A	T	15: 55,075,674 (GRCm39)	S293C	probably damaging	Het
Dnajb12	A	G	10: 59,728,592 (GRCm39)	S187G	probably benign	Het
Duoxa2	G	T	2: 122,131,072 (GRCm39)	V78L	possibly damaging	Het
Fem1al	A	T	11: 29,775,454 (GRCm39)	M1K	probably null	Het
Fhod1	C	A	8: 106,074,443 (GRCm39)		probably benign	Het
Foxf2	C	T	13: 31,810,172 (GRCm39)	P37L	unknown	Het
Gabbr2	T	C	4: 46,875,675 (GRCm39)	N149S	probably damaging	Het
Gckr	G	T	5: 31,464,728 (GRCm39)	M344I	possibly damaging	Het
Herc6	G	A	6: 57,577,045 (GRCm39)		probably null	Het
Igf1	A	T	10: 87,751,287 (GRCm39)	E161V	probably benign	Het
Ighv8-13	T	A	12: 115,729,268 (GRCm39)		probably benign	Het
Igkv6-14	A	T	6: 70,412,426 (GRCm39)	L12*	probably null	Het
Kpnb1	C	T	11: 97,068,160 (GRCm39)	S270N	possibly damaging	Het
Lingo1	A	G	9: 56,527,209 (GRCm39)	V460A	probably benign	Het
Lsm6	T	C	8: 79,539,711 (GRCm39)		probably null	Het
Mccc1	C	T	3: 36,050,066 (GRCm39)	G42E	probably benign	Het
Mga	A	G	2: 119,734,120 (GRCm39)	K323E	possibly damaging	Het
Mks1	A	G	11: 87,753,850 (GRCm39)	*562W	probably null	Het
Mrgpra4	T	A	7: 47,630,686 (GRCm39)	E305V	probably damaging	Het
Msh4	T	A	3: 153,585,024 (GRCm39)	H360L	probably damaging	Het
Mthfsd	C	T	8: 121,825,737 (GRCm39)		probably null	Het
Myl12a	A	T	17: 71,303,798 (GRCm39)	F26L	possibly damaging	Het
Nedd4l	A	G	18: 65,298,676 (GRCm39)	S343G	probably damaging	Het
Nlgn1	T	A	3: 25,490,332 (GRCm39)	D465V	probably damaging	Het
Nlgn1	C	T	3: 25,490,507 (GRCm39)	V407I	possibly damaging	Het
Npsr1	T	C	9: 24,046,064 (GRCm39)	V61A	probably benign	Het
Nrxn2	A	G	19: 6,559,851 (GRCm39)	D160G	probably damaging	Het
Or2p2	T	C	13: 21,256,715 (GRCm39)	Y252C	probably damaging	Het
Or52d3	T	C	7: 104,229,404 (GRCm39)	Y184H	possibly damaging	Het
Or5b107	A	C	19: 13,143,277 (GRCm39)	S300R	probably benign	Het
Or5b113	G	T	19: 13,342,810 (GRCm39)	A273S	probably benign	Het
Or9g4	A	G	2: 85,504,664 (GRCm39)	F277S	probably damaging	Het
Pbx1	C	A	1: 168,023,450 (GRCm39)	R235L	probably damaging	Het
Pcnx4	T	C	12: 72,603,067 (GRCm39)	V443A	probably benign	Het
Pde7b	T	C	10: 20,423,688 (GRCm39)	T63A	probably benign	Het
Phf3	C	T	1: 30,859,908 (GRCm39)	G873D	probably damaging	Het
Phox2b	A	T	5: 67,256,197 (GRCm39)	Y30N	probably damaging	Het
Plch2	T	A	4: 155,080,690 (GRCm39)	I599F	possibly damaging	Het
Plekha8	A	G	6: 54,599,213 (GRCm39)	E249G	probably benign	Het
Pou2af1	T	A	9: 51,144,439 (GRCm39)	Y118N	possibly damaging	Het
Ppp3cc	T	A	14: 70,455,635 (GRCm39)	K489N	possibly damaging	Het
Sema4b	T	C	7: 79,866,577 (GRCm39)	L219P	probably damaging	Het
Slc6a5	T	G	7: 49,609,030 (GRCm39)	V745G	probably benign	Het
Slf2	A	G	19: 44,923,497 (GRCm39)	M104V	probably benign	Het
Slx1b	A	G	7: 126,291,701 (GRCm39)	V121A	probably benign	Het
Speer4e2	T	A	5: 15,026,222 (GRCm39)	H145L	probably benign	Het
Spen	T	A	4: 141,200,390 (GRCm39)	K2746*	probably null	Het
Stxbp5l	T	C	16: 37,008,996 (GRCm39)	Y681C	probably damaging	Het
Sv2b	T	C	7: 74,773,918 (GRCm39)	T518A	probably benign	Het
Tgm7	A	T	2: 120,926,870 (GRCm39)	H426Q	possibly damaging	Het
Tlx2	A	G	6: 83,046,900 (GRCm39)	F54S	probably benign	Het
Trp53bp2	A	T	1: 182,286,339 (GRCm39)	M1060L	probably benign	Het
Trpv5	T	A	6: 41,630,148 (GRCm39)	E647D	probably damaging	Het
Tyro3	A	G	2: 119,641,419 (GRCm39)	K543E	probably damaging	Het
Vmn2r69	T	A	7: 85,061,575 (GRCm39)	Y133F	probably damaging	Het
Zfhx4	T	A	3: 5,465,122 (GRCm39)	V1785D	possibly damaging	Het
Zfp451	A	G	1: 33,804,939 (GRCm39)	L1037P	probably damaging	Het
Zscan29	A	T	2: 120,991,392 (GRCm39)	F799I	possibly 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
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'- CTGTCTTATCACAGCCCAAGC -3'
(R):5'- GGAGCTCCCCATTCAAGAAC -3'

Sequencing Primer
(F):5'- CACAGCCTTGGGGGACATG -3'
(R):5'- GAGCTCCCCATTCAAGAACATACTC -3'

Posted On

2015-11-11