Mutagenetix > Incidental Mutation

Incidental Mutation 'R2018:Tbpl1'

223462

Institutional Source

Beutler Lab

Gene Symbol

Tbpl1

Ensembl Gene

ENSMUSG00000071359

Gene Name

TATA box binding protein-like 1

Synonyms

Tlp, TRF2, TLF, TRP

MMRRC Submission

040027-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R2018 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22579778-22607837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22583576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 131 (E131D)

Ref Sequence

ENSEMBL: ENSMUSP00000114223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042261] [ENSMUST00000095794] [ENSMUST00000127698]

AlphaFold

P62340

Predicted Effect

probably benign
Transcript: ENSMUST00000042261

SMART Domains

Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490

Domain	Start	End	E-Value	Type
Pfam:MFS_1	42	390	5.3e-27	PFAM
Pfam:Sugar_tr	47	381	9.1e-76	PFAM
Pfam:Sugar_tr	451	569	4e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000095794
AA Change: E131D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093470
Gene: ENSMUSG00000071359
AA Change: E131D

Domain	Start	End	E-Value	Type
Pfam:TBP	8	92	8.3e-24	PFAM
Pfam:TBP	97	182	4.5e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000127698
AA Change: E131D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114223
Gene: ENSMUSG00000071359
AA Change: E131D

Domain	Start	End	E-Value	Type
Pfam:TBP	10	91	2.4e-25	PFAM
Pfam:TBP	99	181	1.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141569

Meta Mutation Damage Score

0.4881

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011]
PHENOTYPE: Males homozygous for targeted null mutations are sterile due to a block in spermiogenesis. Spermatids exhibit defective acrosome formation, fragmentation of the chromocenter, and develop at most to step 7 of differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,293,899 (GRCm39)	F252L	possibly damaging	Het
4930447A16Rik	T	G	15: 37,440,742 (GRCm39)		probably benign	Het
Abca14	A	T	7: 119,815,408 (GRCm39)	M219L	probably benign	Het
Abi3bp	A	G	16: 56,498,159 (GRCm39)	T918A	probably damaging	Het
Acss3	C	T	10: 106,772,068 (GRCm39)	S669N	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adamtsl4	A	G	3: 95,588,412 (GRCm39)	Y559H	probably damaging	Het
Adgrg5	T	A	8: 95,661,108 (GRCm39)	M106K	probably damaging	Het
Akt1	T	C	12: 112,626,059 (GRCm39)	N71S	probably damaging	Het
Amer2	A	C	14: 60,615,894 (GRCm39)	K30Q	probably damaging	Het
Anapc5	T	C	5: 122,938,587 (GRCm39)	K383E	probably damaging	Het
Ano1	A	G	7: 144,207,987 (GRCm39)	L258P	probably damaging	Het
Arb2a	A	G	13: 78,147,756 (GRCm39)	T321A	possibly damaging	Het
Arhgef10l	A	G	4: 140,271,695 (GRCm39)	S560P	probably damaging	Het
Arhgef40	T	A	14: 52,241,162 (GRCm39)	L1395Q	probably damaging	Het
Arid1a	A	T	4: 133,409,145 (GRCm39)	D1787E	unknown	Het
Ces2h	T	C	8: 105,745,030 (GRCm39)	L388P	probably damaging	Het
Cfap54	T	A	10: 92,852,466 (GRCm39)	N880I	probably benign	Het
Cryz	T	C	3: 154,327,320 (GRCm39)	V116A	probably damaging	Het
Csrp1	G	A	1: 135,678,366 (GRCm39)	A159T	probably damaging	Het
Cttnbp2	A	G	6: 18,434,517 (GRCm39)	F447S	probably damaging	Het
Cyp4a12a	A	T	4: 115,184,702 (GRCm39)	I328F	probably damaging	Het
Cyth4	T	G	15: 78,492,371 (GRCm39)	H133Q	probably damaging	Het
Ddah2	A	G	17: 35,279,402 (GRCm39)	I88V	possibly damaging	Het
Dmbt1	T	G	7: 130,712,718 (GRCm39)	I1563S	possibly damaging	Het
Dnajc22	T	C	15: 98,999,114 (GRCm39)	S100P	probably benign	Het
Fancl	T	A	11: 26,372,459 (GRCm39)	D123E	probably damaging	Het
Fbxo30	A	G	10: 11,166,772 (GRCm39)	Q498R	probably damaging	Het
Fgd4	T	C	16: 16,253,824 (GRCm39)	H581R	probably benign	Het
Gm2663	T	C	6: 40,974,900 (GRCm39)	Q57R	probably benign	Het
Gm7247	A	T	14: 51,602,804 (GRCm39)	M47L	possibly damaging	Het
Gsdmc2	T	A	15: 63,699,975 (GRCm39)		probably null	Het
Hc	A	C	2: 34,903,540 (GRCm39)	F1038C	probably damaging	Het
Heatr1	C	A	13: 12,429,359 (GRCm39)	Q890K	possibly damaging	Het
Hipk4	C	A	7: 27,228,429 (GRCm39)	T293K	probably damaging	Het
Hp1bp3	C	A	4: 137,948,943 (GRCm39)	A2E	probably damaging	Het
Il6	T	C	5: 30,219,945 (GRCm39)		probably null	Het
Itga6	A	G	2: 71,648,828 (GRCm39)	D104G	probably benign	Het
Krt24	A	G	11: 99,173,277 (GRCm39)	S293P	probably damaging	Het
Krt4	C	T	15: 101,829,086 (GRCm39)	R309Q	probably damaging	Het
Krt40	A	T	11: 99,430,913 (GRCm39)	W199R	probably damaging	Het
Lamc1	T	C	1: 153,118,378 (GRCm39)	E931G	probably benign	Het
Lamp3	A	T	16: 19,519,961 (GRCm39)	M74K	probably benign	Het
Lgalsl2	A	G	7: 5,362,573 (GRCm39)	D68G	probably benign	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Marchf7	T	A	2: 60,059,384 (GRCm39)	Y37*	probably null	Het
Mrpl36	A	G	13: 73,479,687 (GRCm39)	K66E	probably damaging	Het
Mrps35	G	T	6: 146,962,982 (GRCm39)	E229*	probably null	Het
Mtmr6	T	C	14: 60,536,441 (GRCm39)	M557T	probably benign	Het
Myocd	A	T	11: 65,077,854 (GRCm39)	I647N	probably damaging	Het
Myom2	A	C	8: 15,181,151 (GRCm39)	L1350F	probably damaging	Het
Nhsl3	A	G	4: 129,116,148 (GRCm39)	S884P	probably damaging	Het
Nosip	T	A	7: 44,726,033 (GRCm39)	S197T	probably benign	Het
Npat	A	G	9: 53,473,791 (GRCm39)	K528E	probably benign	Het
Nyap2	A	G	1: 81,169,587 (GRCm39)	T115A	probably benign	Het
Obi1	T	A	14: 104,759,978 (GRCm39)	K24M	probably damaging	Het
Or10al6	A	G	17: 38,083,467 (GRCm39)	R317G	probably benign	Het
Or4a72	A	G	2: 89,405,737 (GRCm39)	V111A	probably damaging	Het
Or4c109	G	T	2: 88,818,489 (GRCm39)	P19Q	probably benign	Het
Or51b6	T	A	7: 103,556,249 (GRCm39)	V201D	possibly damaging	Het
Or5m3	A	T	2: 85,838,567 (GRCm39)	Y149F	probably damaging	Het
Or8g55	A	G	9: 39,785,354 (GRCm39)	Q261R	probably benign	Het
Orc1	T	C	4: 108,447,897 (GRCm39)	V48A	possibly damaging	Het
Pde6d	T	C	1: 86,474,438 (GRCm39)	E69G	probably damaging	Het
Pdgfrb	A	T	18: 61,216,406 (GRCm39)	D1088V	possibly damaging	Het
Peg12	A	G	7: 62,113,386 (GRCm39)	V237A	probably benign	Het
Phf8-ps	T	C	17: 33,285,941 (GRCm39)	N287S	probably benign	Het
Piezo1	A	G	8: 123,209,451 (GRCm39)	F2371L	probably benign	Het
Podn	T	A	4: 107,880,570 (GRCm39)	S27C	probably damaging	Het
Pom121l2	A	G	13: 22,166,904 (GRCm39)	M392V	possibly damaging	Het
Ppm1b	A	G	17: 85,301,630 (GRCm39)	K170R	probably damaging	Het
Rab18	A	T	18: 6,770,113 (GRCm39)		probably null	Het
Raet1d	G	A	10: 22,246,911 (GRCm39)	A80T	probably damaging	Het
Rfx7	T	A	9: 72,524,967 (GRCm39)	V719E	probably benign	Het
Ror1	C	T	4: 100,265,038 (GRCm39)	Q171*	probably null	Het
Rufy4	G	A	1: 74,180,106 (GRCm39)	V454M	possibly damaging	Het
Ryr2	C	T	13: 11,866,074 (GRCm39)	G292D	possibly damaging	Het
Ryr3	G	T	2: 112,611,410 (GRCm39)	N2257K	probably benign	Het
Saal1	A	G	7: 46,348,913 (GRCm39)	F306S	possibly damaging	Het
Sap18	A	G	14: 58,036,021 (GRCm39)	N69S	probably damaging	Het
Sar1b	A	T	11: 51,670,514 (GRCm39)		probably null	Het
Serpina3n	G	T	12: 104,375,473 (GRCm39)	V182L	probably damaging	Het
Setd3	A	T	12: 108,084,513 (GRCm39)	H279Q	probably damaging	Het
Slc18a2	C	A	19: 59,264,937 (GRCm39)	A307E	possibly damaging	Het
Slc4a10	A	T	2: 62,064,725 (GRCm39)	D193V	probably damaging	Het
Spire2	T	C	8: 124,059,657 (GRCm39)	C52R	probably damaging	Het
Syne2	A	T	12: 76,121,353 (GRCm39)	I5940F	probably damaging	Het
Sytl1	C	T	4: 132,983,471 (GRCm39)	S355N	probably damaging	Het
Tarbp1	C	T	8: 127,154,853 (GRCm39)	V1424I	probably damaging	Het
Tatdn3	A	T	1: 190,781,477 (GRCm39)		probably null	Het
Telo2	A	T	17: 25,324,382 (GRCm39)	M501K	probably damaging	Het
Terb1	A	G	8: 105,179,331 (GRCm39)	V619A	probably benign	Het
Tmem132e	A	G	11: 82,335,989 (GRCm39)	T1024A	probably benign	Het
Tmem30a	T	C	9: 79,681,500 (GRCm39)	D223G	probably damaging	Het
Tmprss11d	A	G	5: 86,487,413 (GRCm39)	V19A	probably damaging	Het
Tnks	A	T	8: 35,318,260 (GRCm39)	S872T	probably damaging	Het
Tnxb	A	G	17: 34,890,724 (GRCm39)	S356G	probably benign	Het
Tob2	T	C	15: 81,735,400 (GRCm39)	K190E	probably damaging	Het
Togaram1	T	C	12: 65,049,433 (GRCm39)	V1240A	possibly damaging	Het
Trim13	T	A	14: 61,842,335 (GRCm39)	C117*	probably null	Het
Trpv4	G	A	5: 114,772,666 (GRCm39)	R308C	probably damaging	Het
Ttn	C	G	2: 76,585,676 (GRCm39)	D21987H	probably damaging	Het
Ttn	C	A	2: 76,656,418 (GRCm39)		probably null	Het
Upp1	A	T	11: 9,083,240 (GRCm39)	M111L	possibly damaging	Het
Vmn1r206	A	T	13: 22,804,358 (GRCm39)	V283E	probably damaging	Het
Vmn2r79	G	T	7: 86,651,634 (GRCm39)	L344F	probably benign	Het
Vmn2r93	T	G	17: 18,546,324 (GRCm39)	I732S	probably damaging	Het
Vmn2r96	G	T	17: 18,804,263 (GRCm39)	M504I	probably benign	Het
Vps39	T	C	2: 120,173,708 (GRCm39)	Y147C	probably damaging	Het
Zbtb20	T	A	16: 43,398,015 (GRCm39)	C35S	possibly damaging	Het
Zfp871	A	T	17: 32,993,751 (GRCm39)	C475S	probably damaging	Het

Other mutations in Tbpl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02385:Tbpl1	APN	10	22,583,568 (GRCm39)	missense	probably damaging	1.00
R0173:Tbpl1	UTSW	10	22,583,523 (GRCm39)	nonsense	probably null
R1777:Tbpl1	UTSW	10	22,583,742 (GRCm39)	missense	probably damaging	1.00
R2019:Tbpl1	UTSW	10	22,583,576 (GRCm39)	missense	probably damaging	0.99
R2365:Tbpl1	UTSW	10	22,581,785 (GRCm39)	missense	possibly damaging	0.93
R3841:Tbpl1	UTSW	10	22,587,807 (GRCm39)	splice site	probably benign
R6598:Tbpl1	UTSW	10	22,583,748 (GRCm39)	missense	probably damaging	0.99
R9437:Tbpl1	UTSW	10	22,587,838 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTGAAGAATGAGCCTCGTG -3'
(R):5'- TGCTTCACAATACCGTGCG -3'

Sequencing Primer
(F):5'- TCACTGTGATGCTTCCTG -3'
(R):5'- GCAGGTCATCTTCACAGATTTTAAGG -3'

Posted On

2014-08-25