Mutagenetix > Incidental Mutation

Incidental Mutation 'R3500:Tbpl2'

273734

Institutional Source

Beutler Lab

Gene Symbol

Tbpl2

Ensembl Gene

ENSMUSG00000061809

Gene Name

TATA box binding protein like 2

Synonyms

Trf3, LOC227606

MMRRC Submission

040663-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.380) question?

Stock #

R3500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23961733-23986607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23977151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 289 (R289Q)

Ref Sequence

ENSEMBL: ENSMUSP00000079309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080453] [ENSMUST00000153338]

AlphaFold

Q6SJ95

Predicted Effect

probably benign
Transcript: ENSMUST00000080453
AA Change: R289Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000079309
Gene: ENSMUSG00000061809
AA Change: R289Q

Domain	Start	End	E-Value	Type
Pfam:TBP	173	255	1.2e-33	PFAM
Pfam:TBP	263	347	1.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153338
AA Change: R288Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120310
Gene: ENSMUSG00000061809
AA Change: R288Q

Domain	Start	End	E-Value	Type
Pfam:TBP	171	255	3.1e-34	PFAM
Pfam:TBP	260	346	8.3e-36	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (53/54)

MGI Phenotype

PHENOTYPE: Female mice homozygous for a knock-out allele exhibit infertility due to impaired folliculogenesis before or during secondary follicle development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amhr2	A	G	15: 102,355,501 (GRCm39)	D188G	probably benign	Het
Arl15	G	A	13: 114,104,228 (GRCm39)	E102K	probably damaging	Het
Atp10d	C	T	5: 72,403,066 (GRCm39)	R319C	probably damaging	Het
Cetn4	A	T	3: 37,364,109 (GRCm39)	F34I	probably benign	Het
Chd8	G	T	14: 52,443,110 (GRCm39)	H510N	probably benign	Het
Chil5	T	C	3: 105,925,536 (GRCm39)	D157G	probably damaging	Het
Clcn1	T	C	6: 42,269,929 (GRCm39)	S251P	probably damaging	Het
Clstn3	A	T	6: 124,408,670 (GRCm39)	C881S	probably benign	Het
Cnot4	G	A	6: 35,057,076 (GRCm39)		probably benign	Het
Copg1	G	A	6: 87,872,905 (GRCm39)		probably benign	Het
Czib	C	T	4: 107,748,710 (GRCm39)	R83W	probably damaging	Het
Eftud2	A	G	11: 102,735,006 (GRCm39)	M631T	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Fancb	A	G	X: 163,779,104 (GRCm39)	T721A	probably damaging	Het
Fat2	A	G	11: 55,151,342 (GRCm39)	F3800S	probably damaging	Het
Fgd2	T	C	17: 29,584,575 (GRCm39)	V173A	possibly damaging	Het
Gabrr1	T	C	4: 33,158,184 (GRCm39)		probably benign	Het
Gata4	C	T	14: 63,437,982 (GRCm39)	G390S	possibly damaging	Het
Gm9396	C	A	3: 129,862,144 (GRCm39)		noncoding transcript	Het
Grid2	T	C	6: 63,480,383 (GRCm39)	S66P	probably damaging	Het
Hdac9	C	A	12: 34,487,352 (GRCm39)	M16I	probably benign	Het
Kmt2c	A	T	5: 25,504,477 (GRCm39)	D3610E	probably benign	Het
Lactb2	A	T	1: 13,730,673 (GRCm39)	M1K	probably null	Het
Ldhb	T	C	6: 142,447,173 (GRCm39)	D47G	probably damaging	Het
Map3k11	A	T	19: 5,740,275 (GRCm39)	M1L	probably benign	Het
Mecom	C	T	3: 30,035,061 (GRCm39)	R205H	probably damaging	Het
Mob1b	A	G	5: 88,897,479 (GRCm39)	D129G	probably benign	Het
Nbea	A	G	3: 55,588,431 (GRCm39)	V2436A	possibly damaging	Het
Neb	T	C	2: 52,215,797 (GRCm39)	N170S	probably damaging	Het
Nedd4l	G	A	18: 65,345,931 (GRCm39)	A848T	probably damaging	Het
Nr5a1	G	A	2: 38,597,952 (GRCm39)	R282*	probably null	Het
Or4c102	A	G	2: 88,422,285 (GRCm39)	T46A	probably damaging	Het
Or4c119	C	T	2: 88,987,403 (GRCm39)	G39R	probably damaging	Het
Or4d10c	A	G	19: 12,065,421 (GRCm39)	V245A	possibly damaging	Het
Or4f47	T	C	2: 111,972,472 (GRCm39)	F61L	possibly damaging	Het
Or52e2	T	C	7: 102,804,297 (GRCm39)	Y219C	probably damaging	Het
Pcdhb19	T	A	18: 37,630,532 (GRCm39)	L109*	probably null	Het
Plcg2	A	G	8: 118,339,717 (GRCm39)	M1043V	probably benign	Het
Podxl2	T	C	6: 88,819,900 (GRCm39)	D554G	probably damaging	Het
Ppp3ca	A	G	3: 136,587,273 (GRCm39)	T252A	probably benign	Het
Pramel6	A	G	2: 87,339,569 (GRCm39)	H111R	probably damaging	Het
Prr19	A	G	7: 25,002,692 (GRCm39)	E130G	probably damaging	Het
Rab44	C	T	17: 29,357,041 (GRCm39)	A57V	probably benign	Het
Rhbdl3	T	C	11: 80,210,531 (GRCm39)	F95L	probably damaging	Het
Sdk1	G	T	5: 141,992,371 (GRCm39)		probably benign	Het
Tas2r122	T	A	6: 132,688,523 (GRCm39)	K123N	probably damaging	Het
Trpm2	A	G	10: 77,768,136 (GRCm39)	F788L	probably benign	Het
Ttn	G	A	2: 76,560,628 (GRCm39)	L29258F	probably damaging	Het
Ttn	G	T	2: 76,591,509 (GRCm39)	F19307L	possibly damaging	Het
Vmn2r23	T	C	6: 123,690,129 (GRCm39)	I335T	possibly damaging	Het

Other mutations in Tbpl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01540:Tbpl2	APN	2	23,984,985 (GRCm39)	missense	probably benign	0.08
IGL02273:Tbpl2	APN	2	23,986,531 (GRCm39)	missense	probably benign	0.00
IGL02887:Tbpl2	APN	2	23,983,888 (GRCm39)	missense	probably damaging	0.99
IGL02969:Tbpl2	APN	2	23,981,105 (GRCm39)	missense	probably damaging	1.00
IGL03075:Tbpl2	APN	2	23,961,997 (GRCm39)	utr 3 prime	probably benign
IGL03107:Tbpl2	APN	2	23,983,845 (GRCm39)	missense	probably benign	0.01
IGL03118:Tbpl2	APN	2	23,977,301 (GRCm39)	missense	probably benign	0.22
R0322:Tbpl2	UTSW	2	23,984,991 (GRCm39)	missense	probably benign	0.00
R1208:Tbpl2	UTSW	2	23,984,783 (GRCm39)	missense	probably benign	0.02
R1208:Tbpl2	UTSW	2	23,984,783 (GRCm39)	missense	probably benign	0.02
R1699:Tbpl2	UTSW	2	23,985,057 (GRCm39)	missense	probably benign	0.00
R1987:Tbpl2	UTSW	2	23,984,744 (GRCm39)	missense	probably benign
R2040:Tbpl2	UTSW	2	23,984,871 (GRCm39)	missense	probably benign	0.00
R3819:Tbpl2	UTSW	2	23,966,024 (GRCm39)	missense	probably damaging	1.00
R3937:Tbpl2	UTSW	2	23,977,151 (GRCm39)	missense	probably benign	0.00
R4995:Tbpl2	UTSW	2	23,983,872 (GRCm39)	missense	possibly damaging	0.94
R5033:Tbpl2	UTSW	2	23,977,170 (GRCm39)	missense	probably benign	0.01
R5606:Tbpl2	UTSW	2	23,977,245 (GRCm39)	missense	possibly damaging	0.67
R6049:Tbpl2	UTSW	2	23,985,004 (GRCm39)	missense	possibly damaging	0.75
R6153:Tbpl2	UTSW	2	23,966,028 (GRCm39)	missense	probably damaging	1.00
R6260:Tbpl2	UTSW	2	23,984,898 (GRCm39)	missense	possibly damaging	0.94
R6347:Tbpl2	UTSW	2	23,984,715 (GRCm39)	missense	probably benign	0.35
R6936:Tbpl2	UTSW	2	23,984,953 (GRCm39)	missense	probably benign	0.00
R7378:Tbpl2	UTSW	2	23,984,712 (GRCm39)	missense	probably benign	0.14
R7382:Tbpl2	UTSW	2	23,977,326 (GRCm39)	splice site	probably null
R7958:Tbpl2	UTSW	2	23,985,079 (GRCm39)	splice site	probably null
R9189:Tbpl2	UTSW	2	23,966,030 (GRCm39)	missense	probably damaging	1.00
R9397:Tbpl2	UTSW	2	23,966,070 (GRCm39)	missense	possibly damaging	0.81
R9474:Tbpl2	UTSW	2	23,984,650 (GRCm39)	missense	probably benign	0.02
R9491:Tbpl2	UTSW	2	23,986,532 (GRCm39)	missense	probably benign
R9525:Tbpl2	UTSW	2	23,986,547 (GRCm39)	start codon destroyed	probably benign
R9597:Tbpl2	UTSW	2	23,977,296 (GRCm39)	missense	probably damaging	1.00
R9609:Tbpl2	UTSW	2	23,977,197 (GRCm39)	missense	probably damaging	0.99
R9747:Tbpl2	UTSW	2	23,981,104 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTTCAAGACACTGGCTTCCC -3'
(R):5'- GATGCTTGCATTTCCTCAGTG -3'

Sequencing Primer
(F):5'- AAGTTGGGCACAGCATCTTGATC -3'
(R):5'- CTTGCATTTCCTCAGTGAAGAG -3'

Posted On

2015-04-02