Mutagenetix > Incidental Mutations

Incidental Mutation 'R3500:Tbpl2'

273734

Institutional Source

Beutler Lab

Gene Symbol

Tbpl2

Ensembl Gene

ENSMUSG00000061809

Gene Name

TATA box binding protein like 2

Synonyms

LOC227606, Trf3

MMRRC Submission

040663-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.331) question?

Stock #

R3500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24071721-24096595 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24087139 bp

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]

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
0610037L13Rik	C	T	4: 107,891,513	R83W	probably damaging	Het
Amhr2	A	G	15: 102,447,066	D188G	probably benign	Het
Arl15	G	A	13: 113,967,692	E102K	probably damaging	Het
Atp10d	C	T	5: 72,245,723	R319C	probably damaging	Het
Cetn4	A	T	3: 37,309,960	F34I	probably benign	Het
Chd8	G	T	14: 52,205,653	H510N	probably benign	Het
Chil5	T	C	3: 106,018,220	D157G	probably damaging	Het
Clcn1	T	C	6: 42,292,995	S251P	probably damaging	Het
Clstn3	A	T	6: 124,431,711	C881S	probably benign	Het
Cnot4	G	A	6: 35,080,141		probably benign	Het
Copg1	G	A	6: 87,895,923		probably benign	Het
Eftud2	A	G	11: 102,844,180	M631T	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Fancb	A	G	X: 164,996,108	T721A	probably damaging	Het
Fat2	A	G	11: 55,260,516	F3800S	probably damaging	Het
Fgd2	T	C	17: 29,365,601	V173A	possibly damaging	Het
Gabrr1	T	C	4: 33,158,184		probably benign	Het
Gata4	C	T	14: 63,200,533	G390S	possibly damaging	Het
Gm9396	C	A	3: 130,068,495		noncoding transcript	Het
Grid2	T	C	6: 63,503,399	S66P	probably damaging	Het
Hdac9	C	A	12: 34,437,353	M16I	probably benign	Het
Kmt2c	A	T	5: 25,299,479	D3610E	probably benign	Het
Lactb2	A	T	1: 13,660,449	M1K	probably null	Het
Ldhb	T	C	6: 142,501,447	D47G	probably damaging	Het
Map3k11	A	T	19: 5,690,247	M1L	probably benign	Het
Mecom	C	T	3: 29,980,912	R205H	probably damaging	Het
Mob1b	A	G	5: 88,749,620	D129G	probably benign	Het
Nbea	A	G	3: 55,681,010	V2436A	possibly damaging	Het
Neb	T	C	2: 52,325,785	N170S	probably damaging	Het
Nedd4l	G	A	18: 65,212,860	A848T	probably damaging	Het
Nr5a1	G	A	2: 38,707,940	R282*	probably null	Het
Olfr1189	A	G	2: 88,591,941	T46A	probably damaging	Het
Olfr1224-ps1	C	T	2: 89,157,059	G39R	probably damaging	Het
Olfr1317	T	C	2: 112,142,127	F61L	possibly damaging	Het
Olfr1426	A	G	19: 12,088,057	V245A	possibly damaging	Het
Olfr589	T	C	7: 103,155,090	Y219C	probably damaging	Het
Pcdhb19	T	A	18: 37,497,479	L109*	probably null	Het
Plcg2	A	G	8: 117,612,978	M1043V	probably benign	Het
Podxl2	T	C	6: 88,842,918	D554G	probably damaging	Het
Ppp3ca	A	G	3: 136,881,512	T252A	probably benign	Het
Pramel6	A	G	2: 87,509,225	H111R	probably damaging	Het
Prr19	A	G	7: 25,303,267	E130G	probably damaging	Het
Rab44	C	T	17: 29,138,067	A57V	probably benign	Het
Rhbdl3	T	C	11: 80,319,705	F95L	probably damaging	Het
Sdk1	G	T	5: 142,006,616		probably benign	Het
Tas2r122	T	A	6: 132,711,560	K123N	probably damaging	Het
Trpm2	A	G	10: 77,932,302	F788L	probably benign	Het
Ttn	G	A	2: 76,730,284	L29258F	probably damaging	Het
Ttn	G	T	2: 76,761,165	F19307L	possibly damaging	Het
Vmn2r23	T	C	6: 123,713,170	I335T	possibly damaging	Het

Other mutations in Tbpl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01540:Tbpl2	APN	2	24094973	missense	probably benign	0.08
IGL02273:Tbpl2	APN	2	24096519	missense	probably benign	0.00
IGL02887:Tbpl2	APN	2	24093876	missense	probably damaging	0.99
IGL02969:Tbpl2	APN	2	24091093	missense	probably damaging	1.00
IGL03075:Tbpl2	APN	2	24071985	utr 3 prime	probably benign
IGL03107:Tbpl2	APN	2	24093833	missense	probably benign	0.01
IGL03118:Tbpl2	APN	2	24087289	missense	probably benign	0.22
R0322:Tbpl2	UTSW	2	24094979	missense	probably benign	0.00
R1208:Tbpl2	UTSW	2	24094771	missense	probably benign	0.02
R1208:Tbpl2	UTSW	2	24094771	missense	probably benign	0.02
R1699:Tbpl2	UTSW	2	24095045	missense	probably benign	0.00
R1987:Tbpl2	UTSW	2	24094732	missense	probably benign
R2040:Tbpl2	UTSW	2	24094859	missense	probably benign	0.00
R3819:Tbpl2	UTSW	2	24076012	missense	probably damaging	1.00
R3937:Tbpl2	UTSW	2	24087139	missense	probably benign	0.00
R4995:Tbpl2	UTSW	2	24093860	missense	possibly damaging	0.94
R5033:Tbpl2	UTSW	2	24087158	missense	probably benign	0.01
R5606:Tbpl2	UTSW	2	24087233	missense	possibly damaging	0.67
R6049:Tbpl2	UTSW	2	24094992	missense	possibly damaging	0.75
R6153:Tbpl2	UTSW	2	24076016	missense	probably damaging	1.00
R6260:Tbpl2	UTSW	2	24094886	missense	possibly damaging	0.94
R6347:Tbpl2	UTSW	2	24094703	missense	probably benign	0.35
R6936:Tbpl2	UTSW	2	24094941	missense	probably benign	0.00
R7378:Tbpl2	UTSW	2	24094700	missense	probably benign	0.14
R7382:Tbpl2	UTSW	2	24087314	splice site	probably null
R7958:Tbpl2	UTSW	2	24095067	splice site	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