Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Gtf2i'

360698

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf2i

Ensembl Gene

ENSMUSG00000060261

Gene Name

general transcription factor II I

Synonyms

BAP-135, 6030441I21Rik, TFII-I

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

134237834-134314760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134286704 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 193 (K193E)

Ref Sequence

ENSEMBL: ENSMUSP00000133444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059042] [ENSMUST00000082057] [ENSMUST00000111261] [ENSMUST00000172715] [ENSMUST00000173263] [ENSMUST00000173341] [ENSMUST00000173504] [ENSMUST00000173651] [ENSMUST00000173888] [ENSMUST00000174155] [ENSMUST00000174188] [ENSMUST00000174513] [ENSMUST00000174354] [ENSMUST00000174772] [ENSMUST00000174867]

AlphaFold

Q9ESZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000059042
AA Change: K193E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000049625
Gene: ENSMUSG00000060261
AA Change: K193E

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: K193E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000080714
Gene: ENSMUSG00000060261
AA Change: K193E

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

probably benign
Transcript: ENSMUST00000111261
AA Change: K193E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000106892
Gene: ENSMUSG00000060261
AA Change: K193E

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: K193E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000134035
Gene: ENSMUSG00000060261
AA Change: K193E

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

probably benign
Transcript: ENSMUST00000173263

Predicted Effect

probably damaging
Transcript: ENSMUST00000173341
AA Change: K193E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133444
Gene: ENSMUSG00000060261
AA Change: K193E

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

probably benign
Transcript: ENSMUST00000173504

SMART Domains

Protein: ENSMUSP00000134042
Gene: ENSMUSG00000060261

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	150	8.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173651

Predicted Effect

probably benign
Transcript: ENSMUST00000173888
AA Change: K193E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133969
Gene: ENSMUSG00000060261
AA Change: K193E

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

probably benign
Transcript: ENSMUST00000174133
AA Change: K176E

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

SMART Domains

Protein: ENSMUSP00000134111
Gene: ENSMUSG00000060261
AA Change: K176E

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: ENSMUST00000174155
AA Change: K193E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133566
Gene: ENSMUSG00000060261
AA Change: K193E

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

probably benign
Transcript: ENSMUST00000174188

SMART Domains

Protein: ENSMUSP00000134636
Gene: ENSMUSG00000060261

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	159	3.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174513
AA Change: K193E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133489
Gene: ENSMUSG00000060261
AA Change: K193E

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

probably benign
Transcript: ENSMUST00000174354
AA Change: K193E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000134440
Gene: ENSMUSG00000060261
AA Change: K193E

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: ENSMUST00000174772
AA Change: K193E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133740
Gene: ENSMUSG00000060261
AA Change: K193E

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

noncoding transcript
Transcript: ENSMUST00000174773

Predicted Effect

probably benign
Transcript: ENSMUST00000174867

SMART Domains

Protein: ENSMUSP00000133435
Gene: ENSMUSG00000060261

Domain	Start	End	E-Value	Type
low complexity region	82	94	N/A	INTRINSIC
Pfam:GTF2I	112	169	3.4e-27	PFAM

Coding Region Coverage

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	C	A	19: 7,420,422	N111K	possibly damaging	Het
Abca9	A	T	11: 110,154,467	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,303,649	T1233A	probably benign	Het
Blnk	C	T	19: 40,962,429	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,707	E1083G	probably damaging	Het
Capn8	C	A	1: 182,598,771	L224M	probably damaging	Het
Cdh4	A	T	2: 179,780,474	E130D	probably benign	Het
Cgn	G	A	3: 94,774,240	T515M	probably benign	Het
Chrna10	C	T	7: 102,112,262	G374D	probably benign	Het
Chrnb1	T	A	11: 69,795,680	Y38F	probably damaging	Het
Cyld	A	G	8: 88,744,897	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,634,671	F443S	probably benign	Het
Dctn1	C	A	6: 83,189,914	A152E	probably damaging	Het
Eml4	T	A	17: 83,441,362	Y228*	probably null	Het
Fbln2	T	A	6: 91,265,857	C846*	probably null	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gart	T	C	16: 91,623,457	S833G	possibly damaging	Het
Gda	T	C	19: 21,428,475		probably null	Het
Gjb5	C	T	4: 127,355,562	R263Q	probably benign	Het
Hist2h4	C	A	3: 96,263,287	K6N	probably benign	Het
Ints1	C	T	5: 139,772,391	E244K	possibly damaging	Het
Kat14	G	A	2: 144,402,463	S412N	probably benign	Het
Kcnn3	A	T	3: 89,521,175	H236L	possibly damaging	Het
Kif15	T	A	9: 123,003,640	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,678,892	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,071,033	S130P	probably damaging	Het
Ldha	T	A	7: 46,850,891	Y133*	probably null	Het
Lrp2	A	G	2: 69,506,736	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,567,352	V37D	probably damaging	Het
Mep1a	T	A	17: 43,477,221	H648L	probably benign	Het
Mmp25	C	T	17: 23,639,762	G272R	probably damaging	Het
Myh15	A	G	16: 49,145,438		probably benign	Het
Myl3	G	T	9: 110,767,991	E140*	probably null	Het
Nlrp4f	A	G	13: 65,185,042	S809P	probably damaging	Het
Nrde2	T	C	12: 100,144,135	I207M	probably null	Het
Olfr1373	C	T	11: 52,144,810	C240Y	probably damaging	Het
Olfr474	T	C	7: 107,954,770	I43T	probably benign	Het
Olfr541	T	C	7: 140,705,133	L294P	probably damaging	Het
Paics	T	G	5: 76,962,473	V245G	probably damaging	Het
Pank1	A	G	19: 34,840,855	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,767,100	C167G	probably damaging	Het
Picalm	C	A	7: 90,191,749	T542K	possibly damaging	Het
Piezo1	A	G	8: 122,498,215	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,250,194	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,902,582	T634S	probably benign	Het
Rab32	T	C	10: 10,546,427	T183A	probably benign	Het
Rad18	T	C	6: 112,644,622	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,885,776	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,726	E101G	probably benign	Het
Rsf1	T	C	7: 97,661,227	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,740,365	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387	C330Y	probably benign	Het
Spock1	A	T	13: 57,587,673	V101E	probably damaging	Het
Sympk	T	A	7: 19,053,273	W1029R	probably damaging	Het
Syne2	T	A	12: 75,945,376	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719	Y199N	probably damaging	Het
Trim10	T	A	17: 36,877,336	C481*	probably null	Het
Vmn2r102	A	G	17: 19,677,908	E395G	probably damaging	Het
Wfs1	A	C	5: 36,967,669	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,445,021	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,819,841	H721R	probably damaging	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
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
R4392:Gtf2i	UTSW	5	134260629	missense	probably damaging	0.96
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

Posted On

2015-12-18