Mutagenetix > Incidental Mutation

Incidental Mutation 'R8998:Tent4b'

690289

Institutional Source

Beutler Lab

Gene Symbol

Tent4b

Ensembl Gene

ENSMUSG00000036779

Gene Name

terminal nucleotidyltransferase 4B

Synonyms

5730445M16Rik, Papd5

MMRRC Submission

068829-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R8998 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88925841-88986350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88977350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 384 (H384R)

Ref Sequence

ENSEMBL: ENSMUSP00000112608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066748] [ENSMUST00000118952] [ENSMUST00000119033] [ENSMUST00000154115]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000066748
AA Change: H341R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067971
Gene: ENSMUSG00000036779
AA Change: H341R

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 benign
Transcript: ENSMUST00000118952
AA Change: H384R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112608
Gene: ENSMUSG00000036779
AA Change: H384R

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 benign
Transcript: ENSMUST00000119033
AA Change: H384R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112766
Gene: ENSMUSG00000036779
AA Change: H384R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154115

SMART Domains

Protein: ENSMUSP00000120503
Gene: ENSMUSG00000036779

Domain	Start	End	E-Value	Type
low complexity region	74	92	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	G	11: 69,033,051 (GRCm39)	K575R	probably benign	Het
Atp10b	T	A	11: 43,150,726 (GRCm39)	*1475R	probably null	Het
Baz2b	T	C	2: 59,799,608 (GRCm39)	D237G	probably benign	Het
Cacna2d4	A	C	6: 119,219,876 (GRCm39)	Q215H	possibly damaging	Het
Capn15	G	A	17: 26,182,055 (GRCm39)	R651C	probably damaging	Het
Cby2	T	C	14: 75,820,654 (GRCm39)	E357G	probably damaging	Het
Ccdc28b	A	G	4: 129,516,471 (GRCm39)	V29A	probably benign	Het
Cyb5rl	A	G	4: 106,938,157 (GRCm39)	T170A	possibly damaging	Het
D330020A13Rik	A	G	6: 120,271,890 (GRCm39)	T189A	unknown	Het
Emsy	C	A	7: 98,268,512 (GRCm39)	V524F	possibly damaging	Het
Eppk1	T	A	15: 75,980,765 (GRCm39)	N3315I	probably damaging	Het
Erich2	T	G	2: 70,361,964 (GRCm39)		probably benign	Het
Fkbp15	T	C	4: 62,242,365 (GRCm39)	D529G	probably damaging	Het
Gbx2	C	A	1: 89,856,745 (GRCm39)	G215V	possibly damaging	Het
Gzmd	T	A	14: 56,368,144 (GRCm39)	Y105F	possibly damaging	Het
Hpse	G	A	5: 100,840,109 (GRCm39)	T336M	probably damaging	Het
Hrg	A	G	16: 22,772,455 (GRCm39)	D88G	probably damaging	Het
Kif20b	G	A	19: 34,914,253 (GRCm39)		probably benign	Het
Kmt2a	A	G	9: 44,733,174 (GRCm39)	M2381T	unknown	Het
Krtap5-3	T	A	7: 141,755,933 (GRCm39)	C257S	unknown	Het
Met	C	T	6: 17,491,534 (GRCm39)	R99W	probably benign	Het
Nlrp4b	A	G	7: 10,449,629 (GRCm39)	R611G	probably null	Het
Or10a3b	A	C	7: 108,445,017 (GRCm39)	S67A	probably benign	Het
Or4b1d	C	T	2: 89,969,472 (GRCm39)	V4I	probably benign	Het
Or8b1c	T	C	9: 38,384,787 (GRCm39)	V248A	probably benign	Het
Or9m1	T	A	2: 87,733,189 (GRCm39)	Y277F	probably damaging	Het
Pclo	A	G	5: 14,727,510 (GRCm39)	I2123V	unknown	Het
Phf10	G	C	17: 15,170,883 (GRCm39)	A350G	probably benign	Het
Pira2	T	C	7: 3,845,490 (GRCm39)	Y298C	probably damaging	Het
Pkhd1	A	T	1: 20,434,425 (GRCm39)	Y2338N	probably damaging	Het
Psme4	C	T	11: 30,788,957 (GRCm39)	L1120F	possibly damaging	Het
Safb2	A	T	17: 56,870,391 (GRCm39)	H934Q	possibly damaging	Het
Slc4a7	T	A	14: 14,775,346 (GRCm38)	L884Q	probably damaging	Het
Smc4	A	C	3: 68,934,894 (GRCm39)		probably benign	Het
Spag16	T	C	1: 69,935,706 (GRCm39)	V311A	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,176 (GRCm39)	V17A	unknown	Het
Tenm3	T	C	8: 48,729,722 (GRCm39)	Y1428C	probably damaging	Het
Treml2	A	G	17: 48,609,775 (GRCm39)	D69G	possibly damaging	Het
Ttn	T	C	2: 76,658,277 (GRCm39)	K12368E	unknown	Het
Usp17le	T	C	7: 104,417,969 (GRCm39)	D391G	probably benign	Het
Usp28	G	A	9: 48,949,139 (GRCm39)	R911Q	probably benign	Het
Wdfy3	A	C	5: 101,993,058 (GRCm39)	S3274R	probably benign	Het
Ythdc2	T	C	18: 44,997,371 (GRCm39)	V976A	probably benign	Het
Zfp334	A	G	2: 165,223,408 (GRCm39)	S212P	possibly damaging	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
R1351:Tent4b	UTSW	8	88,927,002 (GRCm39)	nonsense	probably null
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
X0024:Tent4b	UTSW	8	88,973,103 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATAGCTGTCAACTGGTCC -3'
(R):5'- TAAAGCATGGGTGGACTGTG -3'

Sequencing Primer
(F):5'- CATAGCTGTCAACTGGTCCAAGATG -3'
(R):5'- ACTGTGACGCCCCTCTGAAG -3'

Posted On

2021-11-19