Mutagenetix > Incidental Mutation

Incidental Mutation 'R8712:Gtf2a1l'

669683

Institutional Source

Beutler Lab

Gene Symbol

Gtf2a1l

Ensembl Gene

ENSMUSG00000024154

Gene Name

general transcription factor IIA, 1-like

Synonyms

Gtf2a1lf, 1700011N16Rik, Alf

MMRRC Submission

068566-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

R8712 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88976088-89022580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89022351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 447 (D447E)

Ref Sequence

ENSEMBL: ENSMUSP00000024970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024970]

AlphaFold

Q8R4I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000024970
AA Change: D447E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024970
Gene: ENSMUSG00000024154
AA Change: D447E

Domain	Start	End	E-Value	Type
TFIIA	9	468	6.87e-202	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	T	16: 85,594,896 (GRCm39)	N617K	probably benign	Het
Adnp2	A	T	18: 80,174,185 (GRCm39)	C75S	probably damaging	Het
Agmo	T	C	12: 37,407,673 (GRCm39)	F186L	possibly damaging	Het
Ahnak2	T	C	12: 112,749,872 (GRCm39)	Y122C		Het
Ahnak2	T	C	12: 112,750,709 (GRCm39)	E71G		Het
Aldh5a1	A	G	13: 25,102,524 (GRCm39)	V313A	probably damaging	Het
Ankib1	C	A	5: 3,822,643 (GRCm39)	C21F	probably benign	Het
Aqr	A	G	2: 113,949,358 (GRCm39)	Y947H	probably damaging	Het
Atp1a2	T	A	1: 172,103,547 (GRCm39)	Y991F	probably benign	Het
Atp8b3	G	A	10: 80,365,923 (GRCm39)	T309M	possibly damaging	Het
Blzf1	T	A	1: 164,125,859 (GRCm39)	D259V	possibly damaging	Het
Cacng5	T	C	11: 107,772,510 (GRCm39)	I113V	probably benign	Het
Catsper3	T	C	13: 55,953,657 (GRCm39)	M269T	probably benign	Het
Ccdc142	A	C	6: 83,079,233 (GRCm39)	Y190S	probably damaging	Het
Ccdc159	C	A	9: 21,845,051 (GRCm39)	Q306K	probably benign	Het
Ccdc180	A	T	4: 45,920,842 (GRCm39)		probably null	Het
Cebpz	A	G	17: 79,229,081 (GRCm39)	F955S	possibly damaging	Het
Cftr	C	T	6: 18,274,696 (GRCm39)	T938I	probably damaging	Het
Col28a1	T	C	6: 8,013,133 (GRCm39)	K973R	probably benign	Het
Cyp2c29	T	C	19: 39,310,138 (GRCm39)		probably benign	Het
Ddx1	A	G	12: 13,293,859 (GRCm39)		probably benign	Het
Duox2	A	C	2: 122,119,826 (GRCm39)	Y867*	probably null	Het
Ereg	T	C	5: 91,237,013 (GRCm39)	Y111H	possibly damaging	Het
Esrrb	T	A	12: 86,565,724 (GRCm39)	L417Q	probably damaging	Het
Fbxw7	G	A	3: 84,859,684 (GRCm39)	R2H	unknown	Het
Galnt6	C	T	15: 100,592,501 (GRCm39)	V569I	probably benign	Het
Gm14226	G	A	2: 154,866,094 (GRCm39)	C17Y	unknown	Het
Gpr150	T	G	13: 76,204,642 (GRCm39)	D101A	probably damaging	Het
Grm1	A	T	10: 10,565,296 (GRCm39)	L1004Q	probably benign	Het
Gtf2ird1	C	T	5: 134,444,064 (GRCm39)	V64M	probably damaging	Het
Ifi206	A	T	1: 173,308,074 (GRCm39)	W641R		Het
Ifi214	T	A	1: 173,355,486 (GRCm39)	E107D	possibly damaging	Het
Kif19a	T	C	11: 114,675,599 (GRCm39)	V357A	probably damaging	Het
Klhdc7b	T	A	15: 89,271,025 (GRCm39)	S636T	probably benign	Het
Klhl25	C	T	7: 75,515,420 (GRCm39)	R109C	probably damaging	Het
Ltbp2	T	C	12: 84,853,124 (GRCm39)	E835G	probably benign	Het
Marchf1	A	G	8: 66,921,000 (GRCm39)	K226E	probably damaging	Het
Mcpt1	T	C	14: 56,256,170 (GRCm39)		probably benign	Het
Myrf	C	A	19: 10,192,434 (GRCm39)	R639L	probably benign	Het
Naip5	T	C	13: 100,359,604 (GRCm39)	H544R	possibly damaging	Het
Nccrp1	T	C	7: 28,245,769 (GRCm39)	I132V	probably benign	Het
Nprl3	C	T	11: 32,187,334 (GRCm39)	V333I	possibly damaging	Het
Or13a25	C	T	7: 140,248,052 (GRCm39)	S277L	possibly damaging	Het
Or14n1-ps1	T	C	7: 86,092,923 (GRCm39)	S245P	probably damaging	Het
Or2o1	T	C	11: 49,051,297 (GRCm39)	M152T	probably benign	Het
Or2y1	T	A	11: 49,385,671 (GRCm39)	S104T	probably benign	Het
Or4b1d	A	T	2: 89,969,114 (GRCm39)	I123N	probably damaging	Het
Or4f62	A	T	2: 111,986,934 (GRCm39)	I213F	probably damaging	Het
Or52h1	T	C	7: 103,829,025 (GRCm39)	N197D	probably damaging	Het
Or56a41	C	A	7: 104,741,808 (GRCm39)	V73F	possibly damaging	Het
Or8c15	T	C	9: 38,121,099 (GRCm39)	V248A	probably benign	Het
Or8d6	T	C	9: 39,853,891 (GRCm39)	S112P	probably damaging	Het
Otx2	A	G	14: 48,896,521 (GRCm39)	M179T	probably damaging	Het
Pmfbp1	A	G	8: 110,265,309 (GRCm39)		probably benign	Het
Ppfia3	T	A	7: 45,011,129 (GRCm39)	T34S	probably benign	Het
Prkcsh	T	C	9: 21,924,375 (GRCm39)	Y502H	probably damaging	Het
Psd	T	C	19: 46,301,775 (GRCm39)	E937G	probably damaging	Het
Rbbp6	T	A	7: 122,600,976 (GRCm39)	I1661N	unknown	Het
Rhobtb1	T	A	10: 69,106,587 (GRCm39)	M446K	probably damaging	Het
Sall3	T	C	18: 81,017,236 (GRCm39)	I231V	probably benign	Het
Slc12a9	C	T	5: 137,325,916 (GRCm39)	V270I	probably damaging	Het
Slc6a15	A	G	10: 103,225,112 (GRCm39)	K67E	probably damaging	Het
Slc9c1	A	G	16: 45,380,646 (GRCm39)	D524G	probably benign	Het
Smpdl3a	A	G	10: 57,687,526 (GRCm39)	D418G	probably benign	Het
Sox6	T	C	7: 115,196,743 (GRCm39)	T296A	probably benign	Het
Ssu2	T	C	6: 112,361,399 (GRCm39)	E19G	probably damaging	Het
Tctn3	T	C	19: 40,600,170 (GRCm39)	N90S	probably damaging	Het
Tex24	A	G	8: 27,834,652 (GRCm39)	Q60R	possibly damaging	Het
Tlcd1	T	A	11: 78,070,470 (GRCm39)	*128R	probably null	Het
Tti1	A	C	2: 157,834,930 (GRCm39)	L1010R	probably damaging	Het
Ttn	A	G	2: 76,567,682 (GRCm39)	L27737P	probably damaging	Het
Ubqln5	T	A	7: 103,778,322 (GRCm39)	K167N	probably benign	Het
Unkl	A	G	17: 25,450,689 (GRCm39)	I492V	possibly damaging	Het
Vmn1r8	G	A	6: 57,013,665 (GRCm39)	V239I	probably benign	Het
Vmn2r101	T	A	17: 19,811,397 (GRCm39)	L494I	probably benign	Het
Vmn2r54	G	T	7: 12,369,877 (GRCm39)	T62K	probably benign	Het

Other mutations in Gtf2a1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Gtf2a1l	APN	17	89,001,723 (GRCm39)	missense	probably damaging	1.00
IGL00928:Gtf2a1l	APN	17	89,001,890 (GRCm39)	missense	probably benign	0.09
IGL00974:Gtf2a1l	APN	17	89,022,377 (GRCm39)	missense	probably damaging	1.00
IGL01024:Gtf2a1l	APN	17	88,978,719 (GRCm39)	missense	probably damaging	1.00
IGL02429:Gtf2a1l	APN	17	88,976,141 (GRCm39)	start codon destroyed	probably null	0.61
IGL02658:Gtf2a1l	APN	17	88,976,146 (GRCm39)	missense	probably benign	0.01
IGL03377:Gtf2a1l	APN	17	89,019,021 (GRCm39)	missense	probably benign	0.03
R0848:Gtf2a1l	UTSW	17	89,001,657 (GRCm39)	missense	probably damaging	0.99
R0899:Gtf2a1l	UTSW	17	88,976,152 (GRCm39)	missense
R1435:Gtf2a1l	UTSW	17	89,001,743 (GRCm39)	missense	probably damaging	1.00
R1716:Gtf2a1l	UTSW	17	89,002,008 (GRCm39)	missense	probably benign	0.06
R1861:Gtf2a1l	UTSW	17	89,022,382 (GRCm39)	missense	probably damaging	1.00
R2301:Gtf2a1l	UTSW	17	89,018,900 (GRCm39)	missense	probably benign
R2906:Gtf2a1l	UTSW	17	89,002,083 (GRCm39)	missense	possibly damaging	0.92
R4281:Gtf2a1l	UTSW	17	89,019,065 (GRCm39)	missense	possibly damaging	0.95
R4289:Gtf2a1l	UTSW	17	89,001,884 (GRCm39)	missense	probably damaging	0.98
R4771:Gtf2a1l	UTSW	17	88,997,448 (GRCm39)	missense	probably benign	0.23
R4904:Gtf2a1l	UTSW	17	88,997,471 (GRCm39)	critical splice donor site	probably null
R4941:Gtf2a1l	UTSW	17	89,022,350 (GRCm39)	missense	probably damaging	1.00
R5106:Gtf2a1l	UTSW	17	89,002,073 (GRCm39)	missense	possibly damaging	0.95
R6003:Gtf2a1l	UTSW	17	89,001,531 (GRCm39)	missense	probably damaging	1.00
R6035:Gtf2a1l	UTSW	17	89,018,962 (GRCm39)	missense	probably benign	0.00
R6035:Gtf2a1l	UTSW	17	89,018,962 (GRCm39)	missense	probably benign	0.00
R6128:Gtf2a1l	UTSW	17	89,002,086 (GRCm39)	missense	probably null	0.94
R6246:Gtf2a1l	UTSW	17	88,978,975 (GRCm39)	missense	probably benign	0.09
R6481:Gtf2a1l	UTSW	17	89,019,053 (GRCm39)	missense	probably benign	0.09
R7344:Gtf2a1l	UTSW	17	89,001,531 (GRCm39)	missense	probably damaging	1.00
R7462:Gtf2a1l	UTSW	17	89,001,566 (GRCm39)	missense	possibly damaging	0.77
R8849:Gtf2a1l	UTSW	17	89,001,566 (GRCm39)	missense	possibly damaging	0.77
R9178:Gtf2a1l	UTSW	17	88,976,152 (GRCm39)	missense
R9407:Gtf2a1l	UTSW	17	89,001,531 (GRCm39)	missense	probably damaging	1.00
R9569:Gtf2a1l	UTSW	17	89,001,948 (GRCm39)	missense	probably benign
R9760:Gtf2a1l	UTSW	17	89,019,020 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGGATGGCTGACCTTTCTCC -3'
(R):5'- CACTATGTTGTAAATGTGTGCTTGC -3'

Sequencing Primer
(F):5'- GATGGCTGACCTTTCTCCAGAAC -3'
(R):5'- GTAAATGTGTGCTTGCATTTGAAC -3'

Posted On

2021-04-30