Mutagenetix > Incidental Mutation

Incidental Mutation 'R4904:Gtf2a1l'

378072

Institutional Source

Beutler Lab

Gene Symbol

Gtf2a1l

Ensembl Gene

ENSMUSG00000024154

Gene Name

general transcription factor IIA, 1-like

Synonyms

Gtf2a1lf, 1700011N16Rik, Alf

MMRRC Submission

042507-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

R4904 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

88976088-89022580 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 88997471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024970] [ENSMUST00000161481]

AlphaFold

Q8R4I4

Predicted Effect

probably null
Transcript: ENSMUST00000024970

SMART Domains

Protein: ENSMUSP00000024970
Gene: ENSMUSG00000024154

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161481

SMART Domains

Protein: ENSMUSP00000124286
Gene: ENSMUSG00000024154

Domain	Start	End	E-Value	Type
Pfam:TFIIA	9	76	3.2e-29	PFAM
Pfam:TFIIA	70	243	3e-13	PFAM

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

94% (82/87)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	G	4: 129,906,332 (GRCm39)	I920S	possibly damaging	Het
Afap1l1	A	G	18: 61,871,786 (GRCm39)	I556T	probably benign	Het
Ankfy1	C	A	11: 72,642,931 (GRCm39)	H665N	probably benign	Het
Aqp9	A	C	9: 71,069,685 (GRCm39)		probably benign	Het
Arhgap21	A	G	2: 20,854,872 (GRCm39)	S1497P	probably benign	Het
Armc7	A	G	11: 115,379,800 (GRCm39)	D166G	probably damaging	Het
Arrdc1	C	A	2: 24,816,676 (GRCm39)	V167F	possibly damaging	Het
Col6a3	A	T	1: 90,729,164 (GRCm39)	I1259N	probably damaging	Het
Coq8a	C	T	1: 180,006,168 (GRCm39)	R207Q	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcbld1	C	T	10: 52,196,066 (GRCm39)	Q425*	probably null	Het
Def8	A	G	8: 124,188,219 (GRCm39)	N445D	probably damaging	Het
Dicer1	C	T	12: 104,679,325 (GRCm39)	V551I	probably benign	Het
Dst	A	T	1: 34,208,879 (GRCm39)	T800S	probably damaging	Het
Dtl	A	T	1: 191,300,457 (GRCm39)	C136S	probably damaging	Het
Duox1	T	A	2: 122,151,345 (GRCm39)	Y310N	probably damaging	Het
Duxf1	T	A	10: 58,059,309 (GRCm39)	R482*	probably null	Het
Ebf1	T	C	11: 44,759,996 (GRCm39)	F211S	probably damaging	Het
Gm44501	A	T	17: 40,889,884 (GRCm39)	I133F	possibly damaging	Het
Gm6625	T	C	8: 89,873,379 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,713,748 (GRCm39)	D243V	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Herc2	T	C	7: 55,807,234 (GRCm39)	F2471L	probably damaging	Het
Hfe	A	T	13: 23,892,037 (GRCm39)	I109N	probably damaging	Het
Hrg	A	G	16: 22,770,000 (GRCm39)	E43G	probably benign	Het
Hspa1a	T	C	17: 35,189,427 (GRCm39)	D492G	probably damaging	Het
Itgb8	T	C	12: 119,134,606 (GRCm39)	D487G	probably benign	Het
Jag1	A	G	2: 136,929,062 (GRCm39)	V798A	probably damaging	Het
Kcnq5	A	G	1: 21,494,324 (GRCm39)	V501A	probably damaging	Het
Kntc1	T	C	5: 123,916,396 (GRCm39)	V743A	possibly damaging	Het
Ly86	G	T	13: 37,599,496 (GRCm39)	V126F	possibly damaging	Het
Med26	A	T	8: 73,250,691 (GRCm39)	L136H	probably damaging	Het
Mpp3	T	C	11: 101,891,413 (GRCm39)	D575G	probably benign	Het
Myoc	G	A	1: 162,466,994 (GRCm39)	M54I	probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,454 (GRCm39)		noncoding transcript	Het
Or10v9	C	T	19: 11,833,231 (GRCm39)	V29M	possibly damaging	Het
Or51t4	A	G	7: 102,598,272 (GRCm39)	Y190C	probably damaging	Het
Or5v1b	A	G	17: 37,841,522 (GRCm39)	Y218C	probably damaging	Het
Pak5	A	T	2: 135,925,267 (GRCm39)	D678E	probably benign	Het
Pcdhb12	T	C	18: 37,570,909 (GRCm39)	V685A	possibly damaging	Het
Pcdhga2	A	G	18: 37,802,932 (GRCm39)	T259A	possibly damaging	Het
Pde6a	A	T	18: 61,398,105 (GRCm39)	M702L	probably benign	Het
Pigq	A	G	17: 26,150,034 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ptch1	A	C	13: 63,670,818 (GRCm39)	I904S	probably damaging	Het
Rflnb	A	T	11: 75,912,964 (GRCm39)	C141*	probably null	Het
Rilpl1	C	A	5: 124,652,807 (GRCm39)		probably null	Het
Rpgrip1	T	C	14: 52,358,544 (GRCm39)	S217P	possibly damaging	Het
Rpgrip1	A	T	14: 52,397,586 (GRCm39)	I1292F	probably damaging	Het
Sema3a	A	C	5: 13,631,066 (GRCm39)	Y534S	probably damaging	Het
Sez6	A	G	11: 77,866,080 (GRCm39)	Y736C	probably damaging	Het
Shank1	G	T	7: 43,983,464 (GRCm39)		probably benign	Het
Slc45a4	G	A	15: 73,458,691 (GRCm39)	S294F	probably benign	Het
Slc9a8	A	G	2: 167,313,316 (GRCm39)	I393V	possibly damaging	Het
Sod1	T	A	16: 90,019,732 (GRCm39)	F46Y	probably damaging	Het
Sult1b1	T	C	5: 87,682,912 (GRCm39)	D11G	probably benign	Het
Syn3	T	G	10: 86,302,950 (GRCm39)	K68N	possibly damaging	Het
Taar8c	C	T	10: 23,977,147 (GRCm39)	V222I	probably benign	Het
Tbx20	T	C	9: 24,670,129 (GRCm39)	K235E	probably damaging	Het
Tcaf3	C	A	6: 42,570,931 (GRCm39)	E274*	probably null	Het
Tll1	A	T	8: 64,523,233 (GRCm39)	M493K	probably benign	Het
Tmem236	T	A	2: 14,200,803 (GRCm39)	S123T	probably benign	Het
Trim33	T	C	3: 103,238,963 (GRCm39)	V647A	possibly damaging	Het
Tspear	T	A	10: 77,705,489 (GRCm39)	Y296N	possibly damaging	Het
Vps13d	T	C	4: 144,882,015 (GRCm39)	K1187E	probably damaging	Het
Xpot	C	T	10: 121,453,083 (GRCm39)	V52I	probably benign	Het
Zdhhc3	A	T	9: 122,929,452 (GRCm39)	V61E	probably damaging	Het
Zfp955a	A	T	17: 33,461,162 (GRCm39)	C323*	probably null	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
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
R8712:Gtf2a1l	UTSW	17	89,022,351 (GRCm39)	missense	probably damaging	1.00
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'- GGAGCCAGTAAGTTTAGAATTTAGC -3'
(R):5'- TGTCCTCACTCTGATGCATAGC -3'

Sequencing Primer
(F):5'- AGAATTTAGCTTGGTCTAACATGAC -3'
(R):5'- TAGCTGCACTGAGGCTGACAAC -3'

Posted On

2016-04-15