Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03377:Gtf2a1l'

420543

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf2a1l

Ensembl Gene

ENSMUSG00000024154

Gene Name

general transcription factor IIA, 1-like

Synonyms

Gtf2a1lf, 1700011N16Rik, Alf

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

IGL03377

Quality Score

Status

Chromosome

Chromosomal Location

88976088-89022580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89019021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 368 (D368E)

Ref Sequence

ENSEMBL: ENSMUSP00000024970 (fasta)

Gene Model

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

AlphaFold

Q8R4I4

Predicted Effect

probably benign
Transcript: ENSMUST00000024970
AA Change: D368E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000024970
Gene: ENSMUSG00000024154
AA Change: D368E

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,096,256 (GRCm39)	I489L	probably benign	Het
Acox3	T	C	5: 35,751,676 (GRCm39)	L237P	probably damaging	Het
Ahi1	T	G	10: 20,893,903 (GRCm39)	I878S	possibly damaging	Het
Alox15	T	A	11: 70,240,488 (GRCm39)	Y231F	probably damaging	Het
Asxl1	A	T	2: 153,238,700 (GRCm39)	K342M	probably damaging	Het
Atl2	T	C	17: 80,172,519 (GRCm39)	I150M	probably damaging	Het
Bag6	T	C	17: 35,363,958 (GRCm39)	Y822H	probably damaging	Het
Ccdc171	T	C	4: 83,581,754 (GRCm39)	Y628H	probably damaging	Het
Ceacam5	T	A	7: 17,449,056 (GRCm39)	Y141N	probably benign	Het
Ces1a	A	G	8: 93,766,116 (GRCm39)	V166A	probably damaging	Het
Chrdl2	G	A	7: 99,671,259 (GRCm39)	A126T	probably benign	Het
Cyp2d26	T	C	15: 82,674,755 (GRCm39)	E409G	possibly damaging	Het
Dicer1	T	C	12: 104,678,456 (GRCm39)	I621V	probably damaging	Het
Enpp1	T	A	10: 24,536,181 (GRCm39)		probably null	Het
Epha2	T	A	4: 141,049,723 (GRCm39)	S776R	probably benign	Het
Fam107b	A	T	2: 3,779,481 (GRCm39)	E52V	probably damaging	Het
Fam169a	A	G	13: 97,228,381 (GRCm39)	N18S	probably benign	Het
Fbxw21	A	T	9: 108,968,597 (GRCm39)	F460I	probably benign	Het
Fgfr2	A	T	7: 129,800,247 (GRCm39)	I329N	probably damaging	Het
Fndc7	T	C	3: 108,783,848 (GRCm39)	S254G	probably benign	Het
Glis1	T	G	4: 107,489,478 (GRCm39)	H688Q	probably damaging	Het
Grip1	A	G	10: 119,890,937 (GRCm39)	E898G	probably damaging	Het
Gucy1a1	T	A	3: 82,013,322 (GRCm39)	H440L	probably damaging	Het
H2-M10.5	A	T	17: 37,084,377 (GRCm39)	D113V	probably benign	Het
Hook2	G	T	8: 85,727,964 (GRCm39)	E554*	probably null	Het
Itpr2	A	C	6: 146,231,213 (GRCm39)	V1182G	probably damaging	Het
Itpr2	T	A	6: 146,231,256 (GRCm39)	T1135S	probably benign	Het
Kdm4c	T	C	4: 74,189,492 (GRCm39)	I69T	possibly damaging	Het
Klhl31	A	T	9: 77,558,345 (GRCm39)	K354*	probably null	Het
Krt222	T	A	11: 99,127,339 (GRCm39)	K159*	probably null	Het
Loxhd1	A	G	18: 77,529,369 (GRCm39)	E2004G	possibly damaging	Het
Man2a2	A	T	7: 80,008,800 (GRCm39)		probably null	Het
Med24	A	G	11: 98,595,962 (GRCm39)	F963L	possibly damaging	Het
Mphosph8	A	G	14: 56,930,943 (GRCm39)	E744G	probably damaging	Het
Mypn	A	G	10: 63,028,644 (GRCm39)	S140P	probably benign	Het
Npc1	A	G	18: 12,344,878 (GRCm39)	F331L	probably benign	Het
Obscn	C	A	11: 58,890,699 (GRCm39)	G1798W	probably damaging	Het
Or5d18	A	T	2: 87,864,589 (GRCm39)	V298D	probably damaging	Het
Patj	C	T	4: 98,353,341 (GRCm39)	P110L	probably damaging	Het
Pkhd1l1	T	G	15: 44,347,747 (GRCm39)		probably null	Het
Prdm5	A	G	6: 65,836,457 (GRCm39)	H256R	possibly damaging	Het
Ralgps1	A	G	2: 33,062,473 (GRCm39)	Y267H	probably damaging	Het
Rfpl4	T	G	7: 5,113,464 (GRCm39)	Y239S	probably damaging	Het
Rnpepl1	A	T	1: 92,846,953 (GRCm39)	M592L	probably benign	Het
Serpinc1	A	T	1: 160,821,012 (GRCm39)	H32L	probably damaging	Het
Skint5	T	A	4: 113,620,735 (GRCm39)	T660S	unknown	Het
Slc26a2	T	C	18: 61,331,658 (GRCm39)	N591S	probably damaging	Het
Slc9b2	C	T	3: 135,042,119 (GRCm39)	A466V	probably damaging	Het
Slco1a5	T	A	6: 142,180,492 (GRCm39)	T637S	probably benign	Het
Snx25	A	G	8: 46,533,338 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,259,594 (GRCm39)		probably benign	Het
Vmn1r183	A	G	7: 23,754,817 (GRCm39)	M207V	possibly damaging	Het
Wdcp	T	G	12: 4,900,691 (GRCm39)	Y182*	probably null	Het
Zc3h13	A	G	14: 75,531,416 (GRCm39)	T105A	possibly damaging	Het
Zfp933	T	C	4: 147,913,168 (GRCm39)	K30R	possibly damaging	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
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
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

Posted On

2016-08-02