Mutagenetix > Incidental Mutation

Incidental Mutation 'R1136:Tent2'

95053

Institutional Source

Beutler Lab

Gene Symbol

Tent2

Ensembl Gene

ENSMUSG00000042167

Gene Name

terminal nucleotidyltransferase 2

Synonyms

8030446C20Rik, Papd4

MMRRC Submission

039209-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

R1136 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93282790-93328893 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 93312205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048702] [ENSMUST00000048702] [ENSMUST00000224545] [ENSMUST00000225868]

AlphaFold

Q91YI6

Predicted Effect

probably null
Transcript: ENSMUST00000048702

SMART Domains

Protein: ENSMUSP00000048124
Gene: ENSMUSG00000042167

Domain	Start	End	E-Value	Type
low complexity region	134	147	N/A	INTRINSIC
Pfam:PAP_assoc	386	440	1.5e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000048702

SMART Domains

Protein: ENSMUSP00000048124
Gene: ENSMUSG00000042167

Domain	Start	End	E-Value	Type
low complexity region	134	147	N/A	INTRINSIC
Pfam:PAP_assoc	386	440	1.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224545

Predicted Effect

probably null
Transcript: ENSMUST00000225868

Meta Mutation Damage Score

0.9593

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

100% (52/52)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele reuslts in disruption in polyadenylation in oocytes and somatic cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	C	T	13: 68,878,436 (GRCm39)	G401S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bmp2	T	C	2: 133,402,847 (GRCm39)	F133L	probably damaging	Het
C1qtnf3	A	G	15: 10,978,670 (GRCm39)	E290G	probably damaging	Het
Ccdc180	C	A	4: 45,914,589 (GRCm39)	D701E	probably benign	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Csmd3	A	T	15: 47,539,213 (GRCm39)	I1508N	probably damaging	Het
Dgkh	T	C	14: 78,862,329 (GRCm39)	R80G	probably damaging	Het
Dock1	T	A	7: 134,449,902 (GRCm39)	V805D	possibly damaging	Het
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Ercc6l2	T	A	13: 64,016,934 (GRCm39)	V679D	possibly damaging	Het
Esp6	T	C	17: 40,876,284 (GRCm39)	Y111H	probably benign	Het
Focad	T	C	4: 88,244,417 (GRCm39)	F799S	unknown	Het
Foxred1	C	A	9: 35,116,333 (GRCm39)	M438I	probably benign	Het
Galnt11	T	G	5: 25,463,943 (GRCm39)	V405G	probably damaging	Het
Gm4847	A	G	1: 166,457,935 (GRCm39)	Y473H	probably damaging	Het
Gpbp1l1	C	T	4: 116,450,115 (GRCm39)	T461M	probably damaging	Het
Hnrnpu	A	T	1: 178,158,790 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,755,646 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,705,948 (GRCm39)	H291R	probably damaging	Het
Mfsd14b	C	T	13: 65,243,506 (GRCm39)	S46N	probably benign	Het
Mtch1	C	T	17: 29,552,744 (GRCm39)		probably null	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mylk	T	C	16: 34,820,688 (GRCm39)	I1880T	probably damaging	Het
N4bp2	T	C	5: 65,965,815 (GRCm39)	L1288P	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Nmd3	T	A	3: 69,654,049 (GRCm39)		probably benign	Het
Npdc1	G	T	2: 25,297,727 (GRCm39)	A127S	probably benign	Het
Nudt3	C	A	17: 27,842,080 (GRCm39)	R27L	probably benign	Het
Nwd1	C	T	8: 73,424,397 (GRCm39)		probably benign	Het
Pex7	T	A	10: 19,764,434 (GRCm39)	I170F	probably benign	Het
Phyhipl	A	G	10: 70,404,902 (GRCm39)	V57A	probably damaging	Het
Pkhd1	G	A	1: 20,593,053 (GRCm39)	P1687S	possibly damaging	Het
Plekhj1	A	T	10: 80,633,654 (GRCm39)		probably null	Het
Prss21	T	A	17: 24,091,968 (GRCm39)	L312H	probably damaging	Het
Samsn1	T	C	16: 75,670,408 (GRCm39)	I232V	probably null	Het
Sec63	A	T	10: 42,682,542 (GRCm39)	D411V	probably damaging	Het
Slc44a4	C	T	17: 35,146,998 (GRCm39)	H343Y	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmtc3	A	G	10: 100,307,905 (GRCm39)		probably benign	Het
Trafd1	C	T	5: 121,511,387 (GRCm39)	R477H	possibly damaging	Het
Uhrf2	T	A	19: 30,033,626 (GRCm39)		probably benign	Het
Vmn2r68	T	A	7: 84,871,549 (GRCm39)	D578V	possibly damaging	Het
Wdcp	G	A	12: 4,901,655 (GRCm39)	V504I	possibly damaging	Het
Wdr93	T	C	7: 79,423,196 (GRCm39)	Y487H	probably damaging	Het
Zfp457	T	C	13: 67,441,846 (GRCm39)	H147R	probably damaging	Het

Other mutations in Tent2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Tent2	APN	13	93,322,905 (GRCm39)	missense	probably benign	0.01
IGL02312:Tent2	APN	13	93,312,041 (GRCm39)	missense	probably benign
IGL02896:Tent2	APN	13	93,304,945 (GRCm39)	missense	probably damaging	1.00
IGL02802:Tent2	UTSW	13	93,285,449 (GRCm39)	missense	probably damaging	1.00
R0538:Tent2	UTSW	13	93,312,123 (GRCm39)	splice site	probably benign
R0568:Tent2	UTSW	13	93,291,500 (GRCm39)	missense	probably benign	0.20
R0733:Tent2	UTSW	13	93,291,547 (GRCm39)	missense	probably benign	0.05
R1537:Tent2	UTSW	13	93,312,076 (GRCm39)	missense	probably damaging	1.00
R1603:Tent2	UTSW	13	93,312,073 (GRCm39)	missense	probably benign
R2508:Tent2	UTSW	13	93,320,726 (GRCm39)	missense	probably damaging	1.00
R4920:Tent2	UTSW	13	93,322,833 (GRCm39)	nonsense	probably null
R5881:Tent2	UTSW	13	93,312,246 (GRCm39)	nonsense	probably null
R5916:Tent2	UTSW	13	93,312,055 (GRCm39)	missense	probably damaging	1.00
R6333:Tent2	UTSW	13	93,322,821 (GRCm39)	nonsense	probably null
R6783:Tent2	UTSW	13	93,291,527 (GRCm39)	missense	probably benign	0.00
R6783:Tent2	UTSW	13	93,291,526 (GRCm39)	missense	probably benign	0.00
R8162:Tent2	UTSW	13	93,304,432 (GRCm39)	critical splice donor site	probably null
R8262:Tent2	UTSW	13	93,310,997 (GRCm39)	intron	probably benign
R8264:Tent2	UTSW	13	93,312,077 (GRCm39)	missense	probably damaging	1.00
R9124:Tent2	UTSW	13	93,284,160 (GRCm39)	nonsense	probably null
R9518:Tent2	UTSW	13	93,320,612 (GRCm39)	missense	probably benign
R9599:Tent2	UTSW	13	93,322,821 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACTAAGCATAAATCGCCATCACTGCTTC -3'
(R):5'- AGTTTTCCAGGCCATTCTTTGTACTTGA -3'

Sequencing Primer
(F):5'- TGCTTCGGGCACCAAATC -3'
(R):5'- GCAGCAAGCAAGTGACTTGAA -3'

Posted On

2014-01-05