Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02429:Gtf2a1l'

293053

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: 0.650) question?

Stock #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

88976088-89022580 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

G to T at 88976141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000124286 (fasta)

Gene Model

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

AlphaFold

Q8R4I4

Predicted Effect

probably null
Transcript: ENSMUST00000024970
AA Change: M1I

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000024970
Gene: ENSMUSG00000024154
AA Change: M1I

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

Predicted Effect

probably null
Transcript: ENSMUST00000161481
AA Change: M1I

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124286
Gene: ENSMUSG00000024154
AA Change: M1I

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

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
Acmsd	A	T	1: 127,687,453 (GRCm39)	D245V	probably damaging	Het
Adamts16	G	A	13: 70,935,289 (GRCm39)		probably benign	Het
Arhgap36	A	G	X: 48,583,583 (GRCm39)	D77G	possibly damaging	Het
Asap1	A	T	15: 64,039,589 (GRCm39)	M187K	probably damaging	Het
Aspm	T	C	1: 139,407,548 (GRCm39)	V2145A	probably benign	Het
Ccn6	T	C	10: 39,030,989 (GRCm39)	N178S	probably benign	Het
Cd46	T	C	1: 194,767,732 (GRCm39)	T110A	probably benign	Het
Chl1	T	A	6: 103,641,770 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,533,896 (GRCm39)	L493S	probably damaging	Het
Col11a2	C	T	17: 34,261,266 (GRCm39)	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,521,730 (GRCm39)		probably benign	Het
Frmd4b	T	C	6: 97,302,390 (GRCm39)		probably benign	Het
Glyr1	A	G	16: 4,837,240 (GRCm39)	M397T	probably benign	Het
Golm2	A	G	2: 121,742,468 (GRCm39)	T306A	probably benign	Het
Hdac4	A	G	1: 91,940,417 (GRCm39)	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720 (GRCm39)	C422S	probably damaging	Het
Kng2	T	A	16: 22,830,829 (GRCm39)	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,755,130 (GRCm39)	A136S	probably damaging	Het
Ltf	T	C	9: 110,855,193 (GRCm39)	I402T	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 131,956,237 (GRCm39)	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,039,334 (GRCm39)	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,717,800 (GRCm39)	R114W	probably damaging	Het
Myh4	A	T	11: 67,149,808 (GRCm39)	K1818*	probably null	Het
Myo1h	C	T	5: 114,497,799 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 27,000,598 (GRCm39)	S1402T	probably benign	Het
Nutm2	A	G	13: 50,623,516 (GRCm39)	N71S	probably benign	Het
Oas1c	C	A	5: 120,940,133 (GRCm39)	M344I	probably benign	Het
Or10g7	T	A	9: 39,905,138 (GRCm39)	F11I	probably benign	Het
Phldb1	A	G	9: 44,612,247 (GRCm39)	L1019P	probably damaging	Het
Plxnc1	T	C	10: 94,718,453 (GRCm39)	E494G	probably benign	Het
Pole	T	C	5: 110,447,666 (GRCm39)	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,851,769 (GRCm39)	S203P	probably benign	Het
Pth2r	G	T	1: 65,385,998 (GRCm39)	M240I	probably benign	Het
Ptprr	T	A	10: 116,109,672 (GRCm39)	F394I	probably damaging	Het
Rabgef1	T	C	5: 130,239,329 (GRCm39)	S265P	possibly damaging	Het
Rbpjl	A	G	2: 164,255,815 (GRCm39)	D353G	possibly damaging	Het
Rfc3	A	G	5: 151,574,596 (GRCm39)	Y8H	probably benign	Het
Rph3a	A	T	5: 121,118,187 (GRCm39)		probably null	Het
Runx1t1	A	T	4: 13,865,294 (GRCm39)		probably benign	Het
Slc37a1	T	A	17: 31,519,483 (GRCm39)		probably null	Het
Slc38a10	T	C	11: 120,025,714 (GRCm39)		probably benign	Het
Slc38a6	T	C	12: 73,397,342 (GRCm39)	V328A	probably benign	Het
Slf2	T	C	19: 44,930,167 (GRCm39)	S415P	probably benign	Het
Spata17	C	A	1: 186,872,631 (GRCm39)	R60L	possibly damaging	Het
Svil	T	A	18: 5,118,369 (GRCm39)	D2237E	probably benign	Het
Swap70	T	A	7: 109,863,179 (GRCm39)	N169K	probably benign	Het
Tnfrsf11a	A	G	1: 105,755,443 (GRCm39)	D505G	probably benign	Het
Traf1	A	G	2: 34,839,115 (GRCm39)	V70A	probably benign	Het
Traf3	T	A	12: 111,209,899 (GRCm39)	V165E	probably benign	Het
Trpc5	T	C	X: 143,194,795 (GRCm39)	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,460,279 (GRCm39)	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,337,243 (GRCm39)	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,551 (GRCm39)	I221V	probably benign	Het
Vmn2r97	T	A	17: 19,150,596 (GRCm39)	V481E	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
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
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

2015-04-16