Mutagenetix > Incidental Mutation

Incidental Mutation 'R8039:Gtf2i'

618397

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

067476-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134237834-134314760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134255834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 537 (V537A)

Ref Sequence

ENSEMBL: ENSMUSP00000049625 (fasta)

Gene Model

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

AlphaFold

Q9ESZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059042
AA Change: V537A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049625
Gene: ENSMUSG00000060261
AA Change: V537A

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: V516A

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080714
Gene: ENSMUSG00000060261
AA Change: V516A

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 damaging
Transcript: ENSMUST00000111261
AA Change: V518A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106892
Gene: ENSMUSG00000060261
AA Change: V518A

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 damaging
Transcript: ENSMUST00000172715
AA Change: V452A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134035
Gene: ENSMUSG00000060261
AA Change: V452A

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 damaging
Transcript: ENSMUST00000173341
AA Change: V497A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133444
Gene: ENSMUSG00000060261
AA Change: V497A

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

possibly damaging
Transcript: ENSMUST00000173888
AA Change: V478A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133969
Gene: ENSMUSG00000060261
AA Change: V478A

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

SMART Domains

Protein: ENSMUSP00000134111
Gene: ENSMUSG00000060261

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

possibly damaging
Transcript: ENSMUST00000174155
AA Change: V537A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133566
Gene: ENSMUSG00000060261
AA Change: V537A

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 damaging
Transcript: ENSMUST00000174354
AA Change: V518A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134440
Gene: ENSMUSG00000060261
AA Change: V518A

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

possibly damaging
Transcript: ENSMUST00000174513
AA Change: V497A

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133489
Gene: ENSMUSG00000060261
AA Change: V497A

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: ENSMUST00000174772
AA Change: V516A

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133740
Gene: ENSMUSG00000060261
AA Change: V516A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,943,214	V1140E	probably benign	Het
Abca17	T	C	17: 24,328,725	H225R	probably damaging	Het
Adgrb2	T	A	4: 130,022,268	L1451Q	probably damaging	Het
Afdn	T	C	17: 13,899,141	L1713P	probably damaging	Het
Agr2	A	T	12: 35,995,559	I15F	probably benign	Het
Agrn	T	C	4: 156,169,011	T1808A	probably benign	Het
Akap6	A	G	12: 53,141,676	I1958V	probably benign	Het
Ankrd60	C	A	2: 173,572,491		probably null	Het
Anpep	A	G	7: 79,839,400		probably null	Het
Apoa4	A	T	9: 46,242,293	D64V	possibly damaging	Het
Arhgef26	C	A	3: 62,339,930	T145N	probably benign	Het
Art1	A	T	7: 102,106,845	Q81L	probably benign	Het
Astl	A	T	2: 127,343,983	S71C	probably damaging	Het
Atp2a1	A	G	7: 126,448,805	I611T	probably damaging	Het
Cacna2d2	T	A	9: 107,527,433	V1139D	possibly damaging	Het
Chst10	T	A	1: 38,866,031	K198*	probably null	Het
Ckmt2	G	A	13: 91,863,312	H60Y	possibly damaging	Het
Coq7	G	C	7: 118,533,246	S2R	possibly damaging	Het
Cspp1	T	A	1: 10,113,013	D814E	probably benign	Het
Cyp2c54	CCTCTTTCATAGCTCT	CCTCT	19: 40,073,732		probably null	Het
Daam2	C	A	17: 49,464,538	G860V	probably damaging	Het
Ecm2	A	T	13: 49,514,850	I10F	probably benign	Het
Epb41l1	A	T	2: 156,506,412	D312V	probably damaging	Het
Epsti1	G	A	14: 77,931,301	R126H	probably damaging	Het
Erc1	A	T	6: 119,773,665	Y367*	probably null	Het
Erh	T	A	12: 80,637,578	R42W	probably damaging	Het
Fam124a	C	T	14: 62,605,876	Q278*	probably null	Het
Fam155a	T	C	8: 9,207,892	T419A	probably benign	Het
Fbxo3	T	A	2: 104,054,941	L385Q	probably damaging	Het
Fbxo31	T	A	8: 121,559,055	T219S	probably damaging	Het
Fstl5	T	G	3: 76,648,418	V534G	possibly damaging	Het
Gatsl3	G	T	11: 4,221,639	A288S	probably damaging	Het
Gbp2b	A	T	3: 142,618,164	I577F	probably benign	Het
Gbp8	A	T	5: 105,050,917	L44*	probably null	Het
Gck	C	T	11: 5,910,301	A114T	probably benign	Het
Gm16486	T	C	8: 70,710,906	V916A	probably benign	Het
Iqcm	C	A	8: 75,763,105	H400Q	probably damaging	Het
Itpr1	T	C	6: 108,386,628	L737P	probably damaging	Het
Jakmip1	A	G	5: 37,100,772	E254G	probably damaging	Het
Kif15	A	T	9: 123,007,425	R1095W	possibly damaging	Het
Klhdc8a	G	A	1: 132,303,108	R237Q	probably benign	Het
Klhl38	T	C	15: 58,322,862	E157G	probably benign	Het
Klrk1	T	A	6: 129,612,823	N221I	probably benign	Het
Lhx8	A	T	3: 154,306,939	H345Q	probably damaging	Het
Lims1	T	A	10: 58,409,672	N174K	probably benign	Het
Madd	T	A	2: 91,167,061	Q754L	probably benign	Het
Mau2	T	C	8: 70,019,790	D581G	probably damaging	Het
Miga1	A	T	3: 152,276,756	I561N	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mob3c	T	C	4: 115,831,687	V139A	probably benign	Het
Nadk	G	T	4: 155,577,067	D17Y	probably benign	Het
Ncapd2	C	T	6: 125,181,026	V380I	probably damaging	Het
Nes	G	A	3: 87,977,008	R858K	probably benign	Het
Nphp3	T	C	9: 104,031,963	S791P	probably benign	Het
Nup210	T	C	6: 91,070,233	T496A	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1186	C	T	2: 88,525,871	T96I	probably benign	Het
Olfr220	T	A	1: 174,449,596	S324R	unknown	Het
Olfr914	T	A	9: 38,607,389	M308K	probably benign	Het
Ovgp1	T	A	3: 105,976,023	S105T	probably benign	Het
Pbld2	T	A	10: 63,047,992	C79S	probably damaging	Het
Pik3cd	T	A	4: 149,659,866	M143L	possibly damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Poln	A	G	5: 34,122,672	V282A	probably benign	Het
Ppp1r11	T	C	17: 36,951,446	T21A	probably damaging	Het
Prpf8	T	A	11: 75,502,542	I1664N	possibly damaging	Het
Prr29	C	T	11: 106,376,912	A161V	probably benign	Het
Rasa3	T	C	8: 13,588,931	D292G	probably damaging	Het
Rnf25	T	C	1: 74,593,964	T411A	probably damaging	Het
Rraga	C	T	4: 86,575,980	T21I	probably damaging	Het
Setdb2	T	A	14: 59,402,375	Y673F	probably damaging	Het
Sf3a1	C	T	11: 4,167,787	T183I	probably damaging	Het
Shank3	A	T	15: 89,505,439	H413L	probably damaging	Het
Slc30a5	A	G	13: 100,813,681		probably null	Het
Slc6a18	T	C	13: 73,665,626	S523G	probably benign	Het
Spaca1	C	T	4: 34,044,207	V96I	probably damaging	Het
Sycp2	C	T	2: 178,374,585	A695T	probably benign	Het
Tnrc18	C	A	5: 142,732,052	G2216C	unknown	Het
Trak2	T	C	1: 58,946,288	N17S	probably benign	Het
Ttn	T	A	2: 76,878,432	N8792I	unknown	Het
Ttyh1	T	C	7: 4,122,541	V64A	probably benign	Het
Usb1	T	A	8: 95,333,413	S50R	probably damaging	Het
Ush2a	T	A	1: 188,957,373	I5044N	probably damaging	Het
Vmn1r84	A	T	7: 12,362,008	F253I	possibly damaging	Het
Vmn2r99	T	C	17: 19,380,040	I442T	probably benign	Het
Vsig1	C	T	X: 140,933,126	H232Y	probably benign	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
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
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'- AAGTGTTAGGCTCACAAGACAG -3'
(R):5'- TGCTCATTTCCACAGCCGAG -3'

Sequencing Primer
(F):5'- CTCACAAGACAGAGCTGTTCTTGAG -3'
(R):5'- TTCCACAGCCGAGGCCTTG -3'

Posted On

2020-01-23