Mutagenetix > Incidental Mutation

Incidental Mutation 'R1351:Tent4b'

156660

Institutional Source

Beutler Lab

Gene Symbol

Tent4b

Ensembl Gene

ENSMUSG00000036779

Gene Name

terminal nucleotidyltransferase 4B

Synonyms

5730445M16Rik, Papd5

MMRRC Submission

039416-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R1351 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88925841-88986350 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 88927002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 137 (Y137*)

Ref Sequence

ENSEMBL: ENSMUSP00000112766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066748] [ENSMUST00000118952] [ENSMUST00000119033]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000066748
AA Change: Y137*

SMART Domains

Protein: ENSMUSP00000067971
Gene: ENSMUSG00000036779
AA Change: Y137*

Domain	Start	End	E-Value	Type
low complexity region	21	47	N/A	INTRINSIC
low complexity region	83	117	N/A	INTRINSIC
low complexity region	148	162	N/A	INTRINSIC
Pfam:NTP_transf_2	206	315	1.6e-16	PFAM
Pfam:PAP_assoc	326	386	2.4e-18	PFAM
low complexity region	496	526	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118952
AA Change: Y137*

SMART Domains

Protein: ENSMUSP00000112608
Gene: ENSMUSG00000036779
AA Change: Y137*

Domain	Start	End	E-Value	Type
low complexity region	21	47	N/A	INTRINSIC
low complexity region	83	117	N/A	INTRINSIC
low complexity region	148	162	N/A	INTRINSIC
Pfam:NTP_transf_2	206	317	1.1e-16	PFAM
Pfam:PAP_assoc	369	429	1.1e-17	PFAM
low complexity region	539	569	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000119033
AA Change: Y137*

SMART Domains

Protein: ENSMUSP00000112766
Gene: ENSMUSG00000036779
AA Change: Y137*

Domain	Start	End	E-Value	Type
low complexity region	21	47	N/A	INTRINSIC
low complexity region	83	117	N/A	INTRINSIC
low complexity region	148	162	N/A	INTRINSIC
Pfam:NTP_transf_2	206	318	4.6e-18	PFAM
Pfam:PAP_assoc	369	429	4.8e-17	PFAM
low complexity region	539	569	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef26	A	G	3: 62,288,262 (GRCm39)	E444G	probably damaging	Het
Astl	G	A	2: 127,189,105 (GRCm39)	V144M	possibly damaging	Het
AW146154	A	T	7: 41,129,878 (GRCm39)	C413S	probably damaging	Het
Bicdl2	G	A	17: 23,886,519 (GRCm39)		probably benign	Het
Cacna1h	G	T	17: 25,610,925 (GRCm39)	S624R	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cep126	C	T	9: 8,100,087 (GRCm39)	E816K	probably damaging	Het
Cyp2j13	T	C	4: 95,945,155 (GRCm39)	K291R	probably benign	Het
Defb26	A	T	2: 152,349,737 (GRCm39)	M181K	unknown	Het
Dicer1	G	A	12: 104,695,401 (GRCm39)	R177C	probably damaging	Het
Eif4g2	A	G	7: 110,673,287 (GRCm39)	Y831H	probably damaging	Het
Ermap	C	T	4: 119,038,558 (GRCm39)		probably null	Het
Fcamr	C	T	1: 130,740,757 (GRCm39)	T392I	possibly damaging	Het
Fgf3	T	C	7: 144,394,517 (GRCm39)		probably benign	Het
Gpr162	T	C	6: 124,838,161 (GRCm39)	Y163C	probably damaging	Het
Gprc5d	T	C	6: 135,093,230 (GRCm39)	R226G	possibly damaging	Het
Hapln3	A	C	7: 78,771,708 (GRCm39)	S60R	probably damaging	Het
Hif1a	T	C	12: 73,987,235 (GRCm39)	S443P	probably benign	Het
Irf2bpl	A	G	12: 86,929,398 (GRCm39)	M425T	probably benign	Het
Lrrc39	G	T	3: 116,359,469 (GRCm39)	A5S	possibly damaging	Het
Mbtps1	A	G	8: 120,244,901 (GRCm39)	L850S	possibly damaging	Het
Mios	T	A	6: 8,228,120 (GRCm39)	M679K	possibly damaging	Het
Mocos	T	C	18: 24,793,107 (GRCm39)	F68S	probably damaging	Het
Nuf2	T	C	1: 169,338,118 (GRCm39)		probably benign	Het
Or51k1	A	G	7: 103,661,523 (GRCm39)	Y129H	possibly damaging	Het
Orc1	T	A	4: 108,452,564 (GRCm39)	D146E	probably benign	Het
Pcdhb22	T	C	18: 37,651,627 (GRCm39)	F32L	probably benign	Het
Pde4d	G	T	13: 110,087,809 (GRCm39)	E562D	possibly damaging	Het
Pgk2	T	C	17: 40,518,691 (GRCm39)	K246E	probably damaging	Het
Plekhh2	A	T	17: 84,884,574 (GRCm39)		probably benign	Het
Pou3f2	A	T	4: 22,487,162 (GRCm39)	C324S	probably damaging	Het
Prkdc	C	T	16: 15,485,564 (GRCm39)	L464F	possibly damaging	Het
Prrc2a	T	C	17: 35,376,863 (GRCm39)	H749R	possibly damaging	Het
Rad18	T	C	6: 112,597,863 (GRCm39)	N218S	possibly damaging	Het
Rbm11	T	C	16: 75,393,531 (GRCm39)	Y76H	possibly damaging	Het
Rif1	T	G	2: 52,001,567 (GRCm39)	Y1674D	possibly damaging	Het
Rrp1b	A	G	17: 32,275,611 (GRCm39)	H386R	possibly damaging	Het
Sacs	T	C	14: 61,440,210 (GRCm39)	V752A	probably benign	Het
Sema3c	A	G	5: 17,883,334 (GRCm39)	D314G	possibly damaging	Het
Spata2l	G	A	8: 123,960,072 (GRCm39)	R406C	probably damaging	Het
Tacc2	C	T	7: 130,264,733 (GRCm39)		probably benign	Het
Trpc4	A	G	3: 54,102,423 (GRCm39)	E107G	probably damaging	Het
Vmn2r70	A	G	7: 85,214,262 (GRCm39)	S297P	probably damaging	Het
Xdh	A	G	17: 74,230,073 (GRCm39)	I286T	probably benign	Het
Zfp608	T	C	18: 55,031,463 (GRCm39)	T826A	probably benign	Het
Zfp646	T	A	7: 127,482,683 (GRCm39)	V1620E	probably benign	Het
Zfyve28	T	G	5: 34,389,549 (GRCm39)	D217A	probably damaging	Het
Zmym6	G	A	4: 127,016,798 (GRCm39)	G768R	probably benign	Het

Other mutations in Tent4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Tent4b	APN	8	88,978,886 (GRCm39)	nonsense	probably null
R0079:Tent4b	UTSW	8	88,926,631 (GRCm39)	missense	possibly damaging	0.86
R0158:Tent4b	UTSW	8	88,977,371 (GRCm39)	missense	probably damaging	1.00
R1175:Tent4b	UTSW	8	88,978,635 (GRCm39)	missense	probably damaging	1.00
R1381:Tent4b	UTSW	8	88,969,937 (GRCm39)	missense	possibly damaging	0.95
R1541:Tent4b	UTSW	8	88,972,227 (GRCm39)	missense	probably damaging	1.00
R1801:Tent4b	UTSW	8	88,977,416 (GRCm39)	missense	probably benign	0.25
R1994:Tent4b	UTSW	8	88,973,112 (GRCm39)	missense	probably damaging	1.00
R2013:Tent4b	UTSW	8	88,972,223 (GRCm39)	splice site	probably null
R2290:Tent4b	UTSW	8	88,978,603 (GRCm39)	missense	probably damaging	1.00
R3791:Tent4b	UTSW	8	88,969,957 (GRCm39)	missense	probably damaging	1.00
R3845:Tent4b	UTSW	8	88,977,292 (GRCm39)	missense	possibly damaging	0.60
R3886:Tent4b	UTSW	8	88,927,043 (GRCm39)	missense	probably benign	0.03
R5041:Tent4b	UTSW	8	88,981,878 (GRCm39)	small deletion	probably benign
R5253:Tent4b	UTSW	8	88,926,651 (GRCm39)	missense	possibly damaging	0.63
R6881:Tent4b	UTSW	8	88,977,416 (GRCm39)	missense	possibly damaging	0.91
R7792:Tent4b	UTSW	8	88,979,182 (GRCm39)	missense	probably benign
R7936:Tent4b	UTSW	8	88,978,913 (GRCm39)	missense	probably null	0.05
R8054:Tent4b	UTSW	8	88,974,186 (GRCm39)	missense	probably damaging	1.00
R8997:Tent4b	UTSW	8	88,979,023 (GRCm39)	missense	probably benign	0.12
R8998:Tent4b	UTSW	8	88,977,350 (GRCm39)	missense	probably benign	0.09
X0024:Tent4b	UTSW	8	88,973,103 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGGCTGAGGAACCTCTACTTCAAC -3'
(R):5'- TCCAAAGAAAGGTCCACCGAGACTGG -3'

Sequencing Primer
(F):5'- ACTGTCAcagcagcggc -3'
(R):5'- CTGGTCAAGCTATGAAGGAATG -3'

Posted On

2014-02-11