Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00558:Gtf2ird1'

11172

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf2ird1

Ensembl Gene

ENSMUSG00000023079

Gene Name

general transcription factor II I repeat domain-containing 1

Synonyms

ESTM9, BEN, binding factor for early enhancer, MusTRD1, GTF3, Cream1, WBSCR11

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

IGL00558

Quality Score

Status

Chromosome

Chromosomal Location

134386510-134485570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134387745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1083 (W1083R)

Ref Sequence

ENSEMBL: ENSMUSP00000098217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073161] [ENSMUST00000074114] [ENSMUST00000100650] [ENSMUST00000100652] [ENSMUST00000100654] [ENSMUST00000111244] [ENSMUST00000111245] [ENSMUST00000202554] [ENSMUST00000202829] [ENSMUST00000167084] [ENSMUST00000202104] [ENSMUST00000202280] [ENSMUST00000171794] [ENSMUST00000200944] [ENSMUST00000202165] [ENSMUST00000202321]

AlphaFold

Q9JI57

Predicted Effect

probably benign
Transcript: ENSMUST00000073161

SMART Domains

Protein: ENSMUSP00000072904
Gene: ENSMUSG00000023079

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	203	1.5e-29	PFAM
Pfam:GTF2I	351	426	4.9e-33	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	640	1.1e-34	PFAM
Pfam:GTF2I	690	765	3.1e-34	PFAM
Pfam:GTF2I	814	889	1.7e-34	PFAM
Pfam:GTF2I	917	992	1.7e-34	PFAM
low complexity region	1020	1043	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074114
AA Change: W980R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000073752
Gene: ENSMUSG00000023079
AA Change: W980R

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	203	1.4e-29	PFAM
Pfam:GTF2I	351	426	4.5e-33	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	640	1.1e-34	PFAM
Pfam:GTF2I	690	765	2.8e-34	PFAM
Pfam:GTF2I	814	889	1.6e-34	PFAM
low complexity region	917	940	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100650
AA Change: W1056R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000098215
Gene: ENSMUSG00000023079
AA Change: W1056R

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	203	1.5e-29	PFAM
Pfam:GTF2I	351	426	4.9e-33	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	640	1.2e-34	PFAM
Pfam:GTF2I	690	765	3.1e-34	PFAM
Pfam:GTF2I	787	862	1.8e-34	PFAM
Pfam:GTF2I	890	965	1.8e-34	PFAM
low complexity region	993	1016	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100652
AA Change: W1083R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000098217
Gene: ENSMUSG00000023079
AA Change: W1083R

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	202	5.8e-29	PFAM
Pfam:GTF2I	351	425	6.6e-32	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	639	2.3e-34	PFAM
Pfam:GTF2I	690	764	3.3e-32	PFAM
Pfam:GTF2I	814	888	3e-33	PFAM
Pfam:GTF2I	917	991	3e-33	PFAM
low complexity region	1020	1043	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100654

SMART Domains

Protein: ENSMUSP00000098219
Gene: ENSMUSG00000023079

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	203	1.3e-29	PFAM
Pfam:GTF2I	351	426	4.3e-33	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	640	1e-34	PFAM
Pfam:GTF2I	716	791	1.5e-34	PFAM
Pfam:GTF2I	819	894	1.5e-34	PFAM
low complexity region	922	945	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111244

SMART Domains

Protein: ENSMUSP00000106875
Gene: ENSMUSG00000023079

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	202	4.3e-29	PFAM
Pfam:GTF2I	351	425	4.9e-32	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	639	1.7e-34	PFAM
Pfam:GTF2I	690	764	2.5e-32	PFAM
Pfam:GTF2I	787	861	2.3e-33	PFAM
Pfam:GTF2I	890	964	2.3e-33	PFAM
low complexity region	993	1016	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111245

SMART Domains

Protein: ENSMUSP00000106876
Gene: ENSMUSG00000023079

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	203	1.4e-29	PFAM
Pfam:GTF2I	351	426	4.6e-33	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	640	1.1e-34	PFAM
Pfam:GTF2I	671	746	2.9e-34	PFAM
Pfam:GTF2I	768	843	1.7e-34	PFAM
Pfam:GTF2I	871	946	1.7e-34	PFAM
low complexity region	974	997	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202554
AA Change: W1037R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000143809
Gene: ENSMUSG00000023079
AA Change: W1037R

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	202	5.5e-29	PFAM
Pfam:GTF2I	351	425	6.3e-32	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	639	2.2e-34	PFAM
Pfam:GTF2I	671	745	3.2e-32	PFAM
Pfam:GTF2I	768	842	2.9e-33	PFAM
Pfam:GTF2I	871	945	2.9e-33	PFAM
low complexity region	974	997	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201608

Predicted Effect

probably benign
Transcript: ENSMUST00000202829

SMART Domains

Protein: ENSMUSP00000144604
Gene: ENSMUSG00000023079

Domain	Start	End	E-Value	Type
Pfam:GTF2I	1	44	1.4e-15	PFAM
Pfam:GTF2I	87	161	4.6e-34	PFAM
Pfam:GTF2I	190	264	4.6e-34	PFAM
low complexity region	293	316	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167084

SMART Domains

Protein: ENSMUSP00000132882
Gene: ENSMUSG00000023079

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	203	1.3e-29	PFAM
Pfam:GTF2I	351	426	4.3e-33	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	640	1e-34	PFAM
Pfam:GTF2I	690	765	2.7e-34	PFAM
Pfam:GTF2I	814	889	1.5e-34	PFAM
low complexity region	917	940	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202104

SMART Domains

Protein: ENSMUSP00000144203
Gene: ENSMUSG00000023079

Domain	Start	End	E-Value	Type
Pfam:GTF2I	1	29	7.9e-7	PFAM
Pfam:GTF2I	58	132	7.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202280

SMART Domains

Protein: ENSMUSP00000143897
Gene: ENSMUSG00000023079

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	202	2.6e-26	PFAM
Pfam:GTF2I	351	425	2.9e-29	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	639	1e-31	PFAM
Pfam:GTF2I	690	764	1.5e-29	PFAM
Pfam:GTF2I	787	861	1.3e-30	PFAM
low complexity region	890	913	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171794

SMART Domains

Protein: ENSMUSP00000129392
Gene: ENSMUSG00000023079

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	203	1.2e-29	PFAM
Pfam:GTF2I	351	426	3.8e-33	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	640	8.9e-35	PFAM
Pfam:GTF2I	690	765	2.4e-34	PFAM
Pfam:GTF2I	787	862	1.4e-34	PFAM
Pfam:GTF2I	890	965	1.4e-34	PFAM
low complexity region	993	1016	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200944

SMART Domains

Protein: ENSMUSP00000143848
Gene: ENSMUSG00000023079

Domain	Start	End	E-Value	Type
Pfam:GTF2I	128	202	4.9e-29	PFAM
Pfam:GTF2I	351	425	5.6e-32	PFAM
low complexity region	543	558	N/A	INTRINSIC
Pfam:GTF2I	565	639	2e-34	PFAM
Pfam:GTF2I	690	764	2.8e-32	PFAM
Pfam:GTF2I	814	888	2.6e-33	PFAM
low complexity region	917	940	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202165

SMART Domains

Protein: ENSMUSP00000144420
Gene: ENSMUSG00000023079

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
Pfam:GTF2I	35	109	7.6e-33	PFAM
Pfam:GTF2I	167	193	4.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202321

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygotes for one null allele is embryonic lethal with abnormal yolk sac vasulogenesis, abnormal angiogenesis, and neural tube defect. Other null allele homozygous mice are viable and have behavioral defects and exhibit a mild craniofacial defect withvariable penetrance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,981,671 (GRCm39)	D985G	possibly damaging	Het
Ces1c	G	A	8: 93,825,899 (GRCm39)	T520I	probably benign	Het
Cul3	T	C	1: 80,266,457 (GRCm39)		probably benign	Het
Defa25	T	A	8: 21,575,281 (GRCm39)	Y87N	possibly damaging	Het
Fbn1	C	A	2: 125,171,048 (GRCm39)		probably benign	Het
Gabrp	T	A	11: 33,502,644 (GRCm39)	T407S	possibly damaging	Het
Rlf	A	T	4: 121,008,170 (GRCm39)	L270H	probably damaging	Het
Serpinb13	T	C	1: 106,924,110 (GRCm39)	V151A	probably damaging	Het
Trps1	T	A	15: 50,524,481 (GRCm39)	T961S	probably damaging	Het
Vps13c	A	G	9: 67,845,139 (GRCm39)	I2074M	possibly damaging	Het

Other mutations in Gtf2ird1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02477:Gtf2ird1	APN	5	134,408,832 (GRCm39)	missense	probably damaging	1.00
IGL02659:Gtf2ird1	APN	5	134,405,895 (GRCm39)	missense	probably damaging	1.00
IGL02752:Gtf2ird1	APN	5	134,387,678 (GRCm39)	makesense	probably null
IGL02963:Gtf2ird1	APN	5	134,418,541 (GRCm39)	missense	probably benign	0.05
IGL03328:Gtf2ird1	APN	5	134,417,983 (GRCm39)	critical splice donor site	probably null
IGL03379:Gtf2ird1	APN	5	134,411,392 (GRCm39)	missense	possibly damaging	0.94
R0585:Gtf2ird1	UTSW	5	134,405,796 (GRCm39)	missense	probably damaging	1.00
R1199:Gtf2ird1	UTSW	5	134,439,918 (GRCm39)	missense	possibly damaging	0.85
R1388:Gtf2ird1	UTSW	5	134,424,564 (GRCm39)	missense	probably damaging	1.00
R1470:Gtf2ird1	UTSW	5	134,424,656 (GRCm39)	critical splice acceptor site	probably null
R1470:Gtf2ird1	UTSW	5	134,424,656 (GRCm39)	critical splice acceptor site	probably null
R1544:Gtf2ird1	UTSW	5	134,387,772 (GRCm39)	missense	possibly damaging	0.93
R1652:Gtf2ird1	UTSW	5	134,424,567 (GRCm39)	missense	probably damaging	1.00
R1792:Gtf2ird1	UTSW	5	134,395,790 (GRCm39)	splice site	probably null
R1852:Gtf2ird1	UTSW	5	134,411,434 (GRCm39)	splice site	probably null
R1938:Gtf2ird1	UTSW	5	134,444,099 (GRCm39)	missense	probably damaging	1.00
R1996:Gtf2ird1	UTSW	5	134,405,740 (GRCm39)	splice site	probably benign
R2020:Gtf2ird1	UTSW	5	134,445,947 (GRCm39)	missense	probably damaging	1.00
R2025:Gtf2ird1	UTSW	5	134,392,788 (GRCm39)	missense	probably damaging	1.00
R2849:Gtf2ird1	UTSW	5	134,387,861 (GRCm39)	missense	probably damaging	1.00
R2964:Gtf2ird1	UTSW	5	134,386,538 (GRCm39)	splice site	probably null
R3421:Gtf2ird1	UTSW	5	134,417,354 (GRCm39)	missense	probably benign	0.41
R4543:Gtf2ird1	UTSW	5	134,392,754 (GRCm39)	critical splice donor site	probably null
R4569:Gtf2ird1	UTSW	5	134,439,857 (GRCm39)	missense	probably damaging	1.00
R4664:Gtf2ird1	UTSW	5	134,412,756 (GRCm39)	missense	probably damaging	1.00
R4665:Gtf2ird1	UTSW	5	134,412,756 (GRCm39)	missense	probably damaging	1.00
R4666:Gtf2ird1	UTSW	5	134,412,756 (GRCm39)	missense	probably damaging	1.00
R4680:Gtf2ird1	UTSW	5	134,386,735 (GRCm39)	missense	probably damaging	1.00
R4709:Gtf2ird1	UTSW	5	134,433,588 (GRCm39)	missense	probably benign
R4806:Gtf2ird1	UTSW	5	134,412,750 (GRCm39)	missense	probably damaging	0.99
R4823:Gtf2ird1	UTSW	5	134,424,576 (GRCm39)	missense	probably damaging	1.00
R4857:Gtf2ird1	UTSW	5	134,391,398 (GRCm39)	missense	probably damaging	0.96
R4970:Gtf2ird1	UTSW	5	134,431,038 (GRCm39)	missense	probably damaging	1.00
R4974:Gtf2ird1	UTSW	5	134,386,685 (GRCm39)	nonsense	probably null
R4975:Gtf2ird1	UTSW	5	134,424,481 (GRCm39)	missense	probably damaging	1.00
R5072:Gtf2ird1	UTSW	5	134,419,787 (GRCm39)	splice site	probably null
R5112:Gtf2ird1	UTSW	5	134,431,038 (GRCm39)	missense	probably damaging	1.00
R5653:Gtf2ird1	UTSW	5	134,439,821 (GRCm39)	missense	probably damaging	1.00
R5681:Gtf2ird1	UTSW	5	134,392,172 (GRCm39)	missense	probably damaging	1.00
R5738:Gtf2ird1	UTSW	5	134,412,672 (GRCm39)	missense	probably damaging	1.00
R5753:Gtf2ird1	UTSW	5	134,439,837 (GRCm39)	missense	probably damaging	1.00
R6385:Gtf2ird1	UTSW	5	134,433,544 (GRCm39)	missense	probably benign	0.19
R6580:Gtf2ird1	UTSW	5	134,389,893 (GRCm39)	missense	probably damaging	1.00
R6787:Gtf2ird1	UTSW	5	134,392,766 (GRCm39)	missense	probably damaging	0.99
R6981:Gtf2ird1	UTSW	5	134,412,776 (GRCm39)	splice site	probably benign
R7208:Gtf2ird1	UTSW	5	134,439,948 (GRCm39)	missense	probably benign	0.35
R7271:Gtf2ird1	UTSW	5	134,433,758 (GRCm39)	missense	probably benign	0.01
R7517:Gtf2ird1	UTSW	5	134,391,379 (GRCm39)	missense	probably benign
R7786:Gtf2ird1	UTSW	5	134,419,753 (GRCm39)	nonsense	probably null
R7788:Gtf2ird1	UTSW	5	134,445,985 (GRCm39)	nonsense	probably null
R7850:Gtf2ird1	UTSW	5	134,392,069 (GRCm39)	missense	probably benign	0.21
R7866:Gtf2ird1	UTSW	5	134,392,063 (GRCm39)	missense	probably benign	0.01
R8183:Gtf2ird1	UTSW	5	134,386,689 (GRCm39)	missense	unknown
R8712:Gtf2ird1	UTSW	5	134,444,064 (GRCm39)	missense	probably damaging	1.00
R8844:Gtf2ird1	UTSW	5	134,389,879 (GRCm39)	nonsense	probably null
R9473:Gtf2ird1	UTSW	5	134,433,534 (GRCm39)	missense	probably benign	0.08
R9669:Gtf2ird1	UTSW	5	134,408,794 (GRCm39)	missense	probably damaging	0.99
R9737:Gtf2ird1	UTSW	5	134,408,794 (GRCm39)	missense	probably damaging	0.99
X0026:Gtf2ird1	UTSW	5	134,404,956 (GRCm39)	splice site	probably null
Z1176:Gtf2ird1	UTSW	5	134,438,166 (GRCm39)	critical splice acceptor site	probably null

Posted On

2012-12-06