Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00503:Tut1'

332485

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tut1

Ensembl Gene

ENSMUSG00000071645

Gene Name

terminal uridylyl transferase 1, U6 snRNA-specific

Synonyms

PAPD2, Rbm21, 2700038E08Rik, TUTase6

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.571) question?

Stock #

IGL00503

Quality Score

Status

Chromosome

Chromosomal Location

8953850-8966207 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8959096 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 95 (A95T)

Ref Sequence

ENSEMBL: ENSMUSP00000093958 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000096239
AA Change: A95T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
AA Change: A95T

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	A	18: 68,950,102	R14*	probably null	Het
Abcb5	A	G	12: 118,907,601	S688P	probably benign	Het
Adgb	T	A	10: 10,406,099	Q597L	possibly damaging	Het
Aga	G	A	8: 53,518,921	V210I	probably benign	Het
Akap17b	A	G	X: 36,612,310	S515P	probably damaging	Het
Brinp3	A	T	1: 146,901,167	T451S	probably benign	Het
Cabcoco1	G	T	10: 68,541,805	T18N	possibly damaging	Het
Ccar2	C	T	14: 70,142,531	W402*	probably null	Het
Ccdc15	G	A	9: 37,320,473	A185V	probably damaging	Het
Ccdc50	G	A	16: 27,409,352	E90K	probably damaging	Het
Cckbr	G	A	7: 105,434,242	M217I	probably benign	Het
Clec16a	A	G	16: 10,694,649	T398A	possibly damaging	Het
Col4a1	A	G	8: 11,240,076		probably benign	Het
Cyp4v3	T	A	8: 45,307,021	E498V	probably damaging	Het
Dgke	T	C	11: 89,041,501	I488V	probably benign	Het
Dip2c	A	G	13: 9,567,898	D443G	probably damaging	Het
Edem3	T	G	1: 151,818,513	S852A	probably benign	Het
Fbxo8	T	A	8: 56,588,023	M158K	probably benign	Het
Galnt15	C	T	14: 32,052,356	T359M	possibly damaging	Het
Herc6	A	G	6: 57,607,145	N330D	probably benign	Het
Kdf1	T	C	4: 133,528,157	S62P	probably damaging	Het
Larp4	T	A	15: 99,987,421	I51N	probably damaging	Het
Mfsd6l	T	A	11: 68,556,473	I50N	probably damaging	Het
Mroh2b	A	G	15: 4,899,197	Y4C	probably benign	Het
Muc3	G	T	5: 137,137,123	Y343*	probably null	Het
Myom2	A	C	8: 15,114,289		probably null	Het
Npat	A	T	9: 53,572,649		probably benign	Het
Pamr1	A	T	2: 102,642,272	I639F	possibly damaging	Het
Pcsk2	A	G	2: 143,793,239	S345G	probably damaging	Het
Pcyt1a	A	G	16: 32,467,101	T197A	probably damaging	Het
Pkd1	A	G	17: 24,565,427	M316V	probably benign	Het
Plekhs1	T	C	19: 56,464,599		probably null	Het
Sema3e	G	T	5: 14,240,572	R557M	probably damaging	Het
Sgsm1	T	C	5: 113,276,142	N154S	probably benign	Het
Smg1	A	T	7: 118,185,483		probably benign	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Spats1	A	T	17: 45,454,085		probably null	Het
Tnfaip6	T	G	2: 52,055,847	V235G	probably damaging	Het
Trim34a	A	T	7: 104,261,331	T447S	probably damaging	Het
Urgcp	C	T	11: 5,716,448	R630Q	possibly damaging	Het
Vmn1r125	G	T	7: 21,272,181	M1I	probably null	Het
Vmn2r99	A	G	17: 19,378,854	T267A	probably benign	Het
Wdr5	A	G	2: 27,520,867	K162E	probably benign	Het
Zscan26	T	G	13: 21,445,101	K285Q	probably damaging	Het

Other mutations in Tut1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7091:Tut1	UTSW	19	8965811	missense	probably benign
R7313:Tut1	UTSW	19	8964049	missense	probably benign	0.00
R7361:Tut1	UTSW	19	8965334	missense	probably damaging	1.00

Posted On

2015-08-05