Mutagenetix > Incidental Mutation

Incidental Mutation 'R3957:Trub1'

474930

Institutional Source

Beutler Lab

Gene Symbol

Trub1

Ensembl Gene

ENSMUSG00000025086

Gene Name

TruB pseudouridine (psi) synthase family member 1

Synonyms

9030425C13Rik, 2610009I02Rik

MMRRC Submission

040931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3957 (G1)

Quality Score

133

Status

Not validated

Chromosome

Chromosomal Location

57441344-57479437 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57473798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 239 (A239T)

Ref Sequence

ENSEMBL: ENSMUSP00000026072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026072] [ENSMUST00000026073]

AlphaFold

Q8C0D0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026072
AA Change: A239T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026072
Gene: ENSMUSG00000025086
AA Change: A239T

Domain	Start	End	E-Value	Type
low complexity region	24	36	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
Pfam:TruB_N	94	239	2.2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026073

SMART Domains

Protein: ENSMUSP00000026073
Gene: ENSMUSG00000025086

Domain	Start	End	E-Value	Type
low complexity region	24	36	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
Pfam:TruB_N	94	243	2.1e-52	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,100,805 (GRCm39)	K393E	possibly damaging	Het
Acsm4	A	T	7: 119,302,588 (GRCm39)	M238L	possibly damaging	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Atp13a5	T	A	16: 29,117,012 (GRCm39)	I579L	probably benign	Het
Canx	A	G	11: 50,199,210 (GRCm39)	V153A	probably damaging	Het
Cdan1	A	G	2: 120,556,113 (GRCm39)	Y718H	probably damaging	Het
Cdan1	G	A	2: 120,561,501 (GRCm39)		probably benign	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Dach1	T	C	14: 98,077,545 (GRCm39)	T561A	probably damaging	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dhx29	C	T	13: 113,067,455 (GRCm39)	A112V	probably benign	Het
Fanca	G	A	8: 124,043,102 (GRCm39)	R95C	probably benign	Het
Fat4	C	A	3: 39,036,495 (GRCm39)	N3382K	probably benign	Het
Fkbp15	A	C	4: 62,252,489 (GRCm39)	F290L	probably benign	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,300 (GRCm39)	Q97L	probably damaging	Het
Igkv15-103	A	T	6: 68,414,903 (GRCm39)	Y114F	probably benign	Het
Kera	G	A	10: 97,448,707 (GRCm39)	R309H	probably benign	Het
Kif1a	T	A	1: 92,953,416 (GRCm39)	H1256L	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lmx1b	T	C	2: 33,459,106 (GRCm39)	E149G	probably damaging	Het
Me2	A	G	18: 73,914,203 (GRCm39)	F443L	probably damaging	Het
Med12l	T	A	3: 58,980,589 (GRCm39)	S307R	probably damaging	Het
Mettl25b	T	C	3: 87,834,135 (GRCm39)	K116R	possibly damaging	Het
Mocs2	T	A	13: 114,961,803 (GRCm39)		probably null	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5d43	A	G	2: 88,105,348 (GRCm39)	F15S	probably damaging	Het
Ovch2	G	A	7: 107,388,318 (GRCm39)	L421F	probably damaging	Het
Pan2	C	T	10: 128,151,046 (GRCm39)	R806C	probably damaging	Het
Plod3	A	T	5: 137,023,046 (GRCm39)	H616L	probably damaging	Het
Plxnb3	T	C	X: 72,814,826 (GRCm39)	V1789A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tdrkh	A	G	3: 94,335,556 (GRCm39)	N383S	probably damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Unc13b	A	G	4: 43,256,834 (GRCm39)	Y3962C	probably damaging	Het
Usp3	T	C	9: 66,469,873 (GRCm39)	T83A	probably benign	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Zmym6	T	C	4: 127,017,089 (GRCm39)	S957P	possibly damaging	Het
Zmynd8	T	C	2: 165,654,395 (GRCm39)	T722A	probably damaging	Het

Other mutations in Trub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01633:Trub1	APN	19	57,441,616 (GRCm39)	missense	possibly damaging	0.54
IGL02073:Trub1	APN	19	57,441,379 (GRCm39)	start codon destroyed	probably benign	0.00
IGL02507:Trub1	APN	19	57,472,009 (GRCm39)	splice site	probably benign
R0299:Trub1	UTSW	19	57,472,057 (GRCm39)	missense	possibly damaging	0.90
R0940:Trub1	UTSW	19	57,473,495 (GRCm39)	splice site	probably benign
R1144:Trub1	UTSW	19	57,473,563 (GRCm39)	missense	probably benign	0.30
R1162:Trub1	UTSW	19	57,461,191 (GRCm39)	missense	probably benign	0.05
R1837:Trub1	UTSW	19	57,441,461 (GRCm39)	missense	probably benign
R2112:Trub1	UTSW	19	57,473,646 (GRCm39)	critical splice donor site	probably null
R7307:Trub1	UTSW	19	57,461,135 (GRCm39)	missense	probably damaging	1.00
R8122:Trub1	UTSW	19	57,473,563 (GRCm39)	missense	probably benign
R9168:Trub1	UTSW	19	57,452,859 (GRCm39)	critical splice donor site	probably null
R9678:Trub1	UTSW	19	57,446,549 (GRCm39)	missense	probably benign	0.00
R9772:Trub1	UTSW	19	57,472,075 (GRCm39)	missense	probably benign	0.13

Predicted Primers

Posted On

2017-04-14