Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Gtf2i'

326401

Institutional Source

Beutler Lab

Gene Symbol

Gtf2i

Ensembl Gene

ENSMUSG00000060261

Gene Name

general transcription factor II I

Synonyms

BAP-135, 6030441I21Rik, TFII-I

MMRRC Submission

041127-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134237834-134314760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134260629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 399 (E399G)

Ref Sequence

ENSEMBL: ENSMUSP00000133969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059042] [ENSMUST00000082057] [ENSMUST00000111261] [ENSMUST00000172715] [ENSMUST00000173341] [ENSMUST00000173888] [ENSMUST00000174772] [ENSMUST00000174155] [ENSMUST00000174513] [ENSMUST00000174354]

AlphaFold

Q9ESZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059042
AA Change: E458G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000049625
Gene: ENSMUSG00000060261
AA Change: E458G

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	187	1.4e-34	PFAM
low complexity region	328	338	N/A	INTRINSIC
Pfam:GTF2I	361	436	3.4e-33	PFAM
Pfam:GTF2I	466	541	5e-34	PFAM
Pfam:GTF2I	571	646	3.3e-33	PFAM
Pfam:GTF2I	733	808	3.9e-33	PFAM
Pfam:GTF2I	868	943	9.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082057
AA Change: E437G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080714
Gene: ENSMUSG00000060261
AA Change: E437G

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	187	1.3e-34	PFAM
low complexity region	307	317	N/A	INTRINSIC
Pfam:GTF2I	340	415	3.3e-33	PFAM
Pfam:GTF2I	445	520	4.9e-34	PFAM
Pfam:GTF2I	550	625	3.2e-33	PFAM
Pfam:GTF2I	712	787	3.8e-33	PFAM
Pfam:GTF2I	847	922	9.1e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111261
AA Change: E439G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106892
Gene: ENSMUSG00000060261
AA Change: E439G

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	187	1.3e-34	PFAM
low complexity region	309	319	N/A	INTRINSIC
Pfam:GTF2I	342	417	3.3e-33	PFAM
Pfam:GTF2I	447	522	4.9e-34	PFAM
Pfam:GTF2I	552	627	3.2e-33	PFAM
Pfam:GTF2I	714	789	3.8e-33	PFAM
Pfam:GTF2I	849	924	9.1e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172715
AA Change: E373G

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134035
Gene: ENSMUSG00000060261
AA Change: E373G

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	187	9.7e-35	PFAM
low complexity region	243	253	N/A	INTRINSIC
Pfam:GTF2I	276	351	2.4e-33	PFAM
Pfam:GTF2I	381	456	3.6e-34	PFAM
Pfam:GTF2I	486	561	2.4e-33	PFAM
Pfam:GTF2I	648	723	2.8e-33	PFAM
Pfam:GTF2I	783	858	6.7e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172953

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173341
AA Change: E418G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133444
Gene: ENSMUSG00000060261
AA Change: E418G

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	187	1e-34	PFAM
low complexity region	288	298	N/A	INTRINSIC
Pfam:GTF2I	321	396	2.6e-33	PFAM
Pfam:GTF2I	426	501	3.8e-34	PFAM
Pfam:GTF2I	531	606	2.5e-33	PFAM
Pfam:GTF2I	693	768	3e-33	PFAM
Pfam:GTF2I	832	907	7.1e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173887

Predicted Effect

probably damaging
Transcript: ENSMUST00000173888
AA Change: E399G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133969
Gene: ENSMUSG00000060261
AA Change: E399G

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	187	1.3e-34	PFAM
low complexity region	245	258	N/A	INTRINSIC
low complexity region	269	279	N/A	INTRINSIC
Pfam:GTF2I	302	377	3.2e-33	PFAM
Pfam:GTF2I	407	482	4.6e-34	PFAM
Pfam:GTF2I	512	587	3.1e-33	PFAM
Pfam:GTF2I	674	749	3.6e-33	PFAM
Pfam:GTF2I	809	884	8.7e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174133
AA Change: E375G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134111
Gene: ENSMUSG00000060261
AA Change: E375G

Domain	Start	End	E-Value	Type
low complexity region	66	78	N/A	INTRINSIC
Pfam:GTF2I	96	170	2.7e-32	PFAM
low complexity region	209	225	N/A	INTRINSIC
low complexity region	246	256	N/A	INTRINSIC
Pfam:GTF2I	279	353	5.1e-31	PFAM
Pfam:GTF2I	384	437	2.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174772
AA Change: E437G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133740
Gene: ENSMUSG00000060261
AA Change: E437G

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	187	1.3e-34	PFAM
low complexity region	307	317	N/A	INTRINSIC
Pfam:GTF2I	340	415	3.3e-33	PFAM
Pfam:GTF2I	445	520	4.9e-34	PFAM
Pfam:GTF2I	550	625	3.2e-33	PFAM
Pfam:GTF2I	712	787	3.8e-33	PFAM
Pfam:GTF2I	847	922	9.1e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174155
AA Change: E458G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133566
Gene: ENSMUSG00000060261
AA Change: E458G

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	186	1.6e-34	PFAM
low complexity region	328	338	N/A	INTRINSIC
Pfam:GTF2I	361	435	3e-33	PFAM
Pfam:GTF2I	466	540	9.1e-34	PFAM
Pfam:GTF2I	571	645	1.8e-32	PFAM
Pfam:GTF2I	733	807	2.2e-33	PFAM
Pfam:GTF2I	868	942	6e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174182

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174513
AA Change: E418G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133489
Gene: ENSMUSG00000060261
AA Change: E418G

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	187	1.3e-34	PFAM
low complexity region	288	298	N/A	INTRINSIC
Pfam:GTF2I	321	396	3.2e-33	PFAM
Pfam:GTF2I	426	501	4.8e-34	PFAM
Pfam:GTF2I	531	606	3.2e-33	PFAM
Pfam:GTF2I	693	768	3.7e-33	PFAM
Pfam:GTF2I	828	903	8.9e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174354
AA Change: E439G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134440
Gene: ENSMUSG00000060261
AA Change: E439G

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	187	1.3e-34	PFAM
low complexity region	309	319	N/A	INTRINSIC
Pfam:GTF2I	342	417	3.3e-33	PFAM
Pfam:GTF2I	447	522	4.9e-34	PFAM
Pfam:GTF2I	552	627	3.2e-33	PFAM
Pfam:GTF2I	714	789	3.8e-33	PFAM
Pfam:GTF2I	849	924	9.1e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201371

Meta Mutation Damage Score

0.1325

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for null allele is embryonic lethal, and show brain hemorrhage and neural tube defects. Although most heterozygote are normal and fertile, at low frequency, growth retardation and small head are also reported. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,584,978		probably null	Het
Abca13	A	C	11: 9,309,034	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,149,408		noncoding transcript	Het
Anapc1	T	C	2: 128,676,249		probably null	Het
Bmp7	T	G	2: 172,916,542	D178A	probably benign	Het
Brsk1	T	A	7: 4,698,750	I170N	probably damaging	Het
Bub3	C	T	7: 131,566,335	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,400,280	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,951,353	K20N	probably benign	Het
Clec12a	A	T	6: 129,353,464		probably benign	Het
Col12a1	T	A	9: 79,662,488	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 27,029,275	I57N	probably damaging	Het
Dip2b	T	C	15: 100,162,036	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,229	R1188H	probably benign	Het
Dopey1	T	C	9: 86,503,143		probably benign	Het
Efcab5	T	A	11: 77,090,458	N1354I	probably damaging	Het
Eif4b	T	A	15: 102,086,641		probably null	Het
Elmsan1	A	T	12: 84,173,111	D356E	probably benign	Het
Erlec1	A	G	11: 30,943,697		probably null	Het
Esp24	T	C	17: 39,040,077		probably benign	Het
Esp34	T	C	17: 38,559,491	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,568,232		probably benign	Het
Foxc2	T	C	8: 121,117,452	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178	L117V	probably benign	Het
Grk3	A	G	5: 112,920,136	F467S	probably damaging	Het
Grwd1	C	T	7: 45,827,780	G228S	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Lhx4	A	G	1: 155,710,134	Y83H	probably damaging	Het
Mdga1	T	C	17: 29,850,656	T413A	probably damaging	Het
Mmrn2	T	A	14: 34,397,616	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,259,589	R133C	probably damaging	Het
Myh13	A	C	11: 67,344,881		probably null	Het
Nkain3	C	A	4: 20,282,985	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,400,272	Q212P	probably damaging	Het
Olfr268-ps1	T	C	2: 111,844,345		noncoding transcript	Het
Olfr726	A	G	14: 50,084,603	F26S	probably benign	Het
Otog	T	C	7: 46,285,124	Y1369H	probably damaging	Het
Prl	A	G	13: 27,064,351	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467	I373F	possibly damaging	Het
Rad18	A	T	6: 112,693,529	C25S	probably damaging	Het
Rgs12	A	G	5: 35,032,311	T678A	probably damaging	Het
Scaper	T	A	9: 55,858,115	E557V	probably damaging	Het
Scube3	C	T	17: 28,164,788	P511L	probably null	Het
Sgpl1	A	G	10: 61,104,452		probably benign	Het
Slc10a1	C	A	12: 80,967,804	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,418,471	N369S	probably damaging	Het
Sstr5	T	C	17: 25,491,224	T344A	probably benign	Het
Tgm4	C	T	9: 123,066,752	T631I	probably benign	Het
Tmprss15	A	G	16: 79,024,438	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,848,538	W207R	probably damaging	Het
Trpm7	A	T	2: 126,795,509		probably null	Het
Ttc26	A	G	6: 38,381,557		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Usp2	A	T	9: 44,091,259	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,230,176	V169I	probably benign	Het
Vopp1	A	C	6: 57,762,476	F29C	probably damaging	Het
Wrn	T	C	8: 33,251,832	D953G	probably damaging	Het
Zfp759	T	A	13: 67,139,643	C419*	probably null	Het

Other mutations in Gtf2i

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Gtf2i	APN	5	134242748	missense	probably damaging	1.00
IGL01565:Gtf2i	APN	5	134255913	missense	probably damaging	0.97
IGL01743:Gtf2i	APN	5	134286893	missense	probably damaging	1.00
IGL01809:Gtf2i	APN	5	134249950	missense	probably damaging	1.00
IGL02553:Gtf2i	APN	5	134245161	missense	probably damaging	1.00
IGL02814:Gtf2i	APN	5	134286704	missense	probably damaging	1.00
IGL02869:Gtf2i	APN	5	134279427	splice site	probably benign
IGL03018:Gtf2i	APN	5	134289335	missense	possibly damaging	0.79
IGL03051:Gtf2i	APN	5	134242914	nonsense	probably null
P0041:Gtf2i	UTSW	5	134244888	splice site	probably benign
R0330:Gtf2i	UTSW	5	134251886	missense	probably damaging	0.98
R0515:Gtf2i	UTSW	5	134242919	missense	probably damaging	1.00
R0529:Gtf2i	UTSW	5	134261869	nonsense	probably null
R0594:Gtf2i	UTSW	5	134242173	splice site	probably benign
R0650:Gtf2i	UTSW	5	134261837	splice site	probably benign
R1055:Gtf2i	UTSW	5	134263624	missense	probably damaging	1.00
R1079:Gtf2i	UTSW	5	134242894	splice site	probably benign
R1916:Gtf2i	UTSW	5	134246848	missense	probably damaging	1.00
R2969:Gtf2i	UTSW	5	134251892	missense	probably damaging	0.98
R3013:Gtf2i	UTSW	5	134295504	splice site	probably benign
R4421:Gtf2i	UTSW	5	134255037	missense	possibly damaging	0.86
R4635:Gtf2i	UTSW	5	134245174	missense	probably damaging	1.00
R4763:Gtf2i	UTSW	5	134255964	missense	probably damaging	1.00
R4770:Gtf2i	UTSW	5	134243560	missense	possibly damaging	0.53
R5063:Gtf2i	UTSW	5	134260571	missense	probably damaging	1.00
R5195:Gtf2i	UTSW	5	134244832	nonsense	probably null
R5829:Gtf2i	UTSW	5	134263693	missense	probably damaging	1.00
R6005:Gtf2i	UTSW	5	134255958	nonsense	probably null
R6119:Gtf2i	UTSW	5	134287057	splice site	probably null
R6576:Gtf2i	UTSW	5	134263702	missense	probably damaging	1.00
R6936:Gtf2i	UTSW	5	134242785	missense	probably damaging	1.00
R7070:Gtf2i	UTSW	5	134282803	missense	probably damaging	1.00
R7071:Gtf2i	UTSW	5	134263621	missense	probably damaging	1.00
R7142:Gtf2i	UTSW	5	134244851	missense	possibly damaging	0.95
R7366:Gtf2i	UTSW	5	134265749	missense	probably damaging	1.00
R7694:Gtf2i	UTSW	5	134282805	missense	probably damaging	1.00
R7879:Gtf2i	UTSW	5	134266617	missense	possibly damaging	0.77
R8039:Gtf2i	UTSW	5	134255834	missense	possibly damaging	0.95
R8041:Gtf2i	UTSW	5	134293745	critical splice donor site	probably null
R8154:Gtf2i	UTSW	5	134251867	missense	probably benign	0.07
R8365:Gtf2i	UTSW	5	134274580	missense	probably benign	0.22
R8706:Gtf2i	UTSW	5	134249879	missense	probably damaging	0.97
R8738:Gtf2i	UTSW	5	134295520	missense	probably damaging	1.00
R8827:Gtf2i	UTSW	5	134240242	critical splice donor site	probably null
R8901:Gtf2i	UTSW	5	134295535	missense	probably damaging	1.00
R8902:Gtf2i	UTSW	5	134249866	missense	probably benign	0.00
R9020:Gtf2i	UTSW	5	134246561	missense	probably benign	0.03
R9092:Gtf2i	UTSW	5	134289387	makesense	probably null
R9169:Gtf2i	UTSW	5	134242680	missense	probably damaging	1.00
R9240:Gtf2i	UTSW	5	134263765	missense	probably benign	0.34
R9333:Gtf2i	UTSW	5	134242986	missense	probably benign	0.01
R9346:Gtf2i	UTSW	5	134244809	missense	probably damaging	1.00
R9346:Gtf2i	UTSW	5	134286927	missense	probably benign
R9570:Gtf2i	UTSW	5	134265773	missense	probably damaging	1.00
R9648:Gtf2i	UTSW	5	134255916	missense	probably damaging	1.00
R9702:Gtf2i	UTSW	5	134246561	missense	probably benign	0.03
X0022:Gtf2i	UTSW	5	134263616	missense	probably damaging	1.00
Z1176:Gtf2i	UTSW	5	134263645	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGACCTTGATCAGCACTTTGG -3'
(R):5'- ATTCCTCAGGATGGAGCAGG -3'

Sequencing Primer
(F):5'- TGATCAGCACTTTGGTCTCC -3'
(R):5'- CAGGAGTTGCCCCATGTATATTAGTC -3'

Posted On

2015-07-06