Mutagenetix > Incidental Mutation

Incidental Mutation 'R1938:Gtf2ird1'

213667

Institutional Source

Beutler Lab

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

MMRRC Submission

039956-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R1938 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134386510-134485570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134444099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 52 (V52A)

Ref Sequence

ENSEMBL: ENSMUSP00000129392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073161] [ENSMUST00000074114] [ENSMUST00000100650] [ENSMUST00000100652] [ENSMUST00000100654] [ENSMUST00000111244] [ENSMUST00000200944] [ENSMUST00000202554] [ENSMUST00000167084] [ENSMUST00000202280] [ENSMUST00000111245] [ENSMUST00000201647] [ENSMUST00000171794]

AlphaFold

Q9JI57

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073161
AA Change: V52A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072904
Gene: ENSMUSG00000023079
AA Change: V52A

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

possibly damaging
Transcript: ENSMUST00000074114
AA Change: V52A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073752
Gene: ENSMUSG00000023079
AA Change: V52A

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

possibly damaging
Transcript: ENSMUST00000100650
AA Change: V52A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098215
Gene: ENSMUSG00000023079
AA Change: V52A

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

possibly damaging
Transcript: ENSMUST00000100652
AA Change: V52A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098217
Gene: ENSMUSG00000023079
AA Change: V52A

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

possibly damaging
Transcript: ENSMUST00000100654
AA Change: V52A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098219
Gene: ENSMUSG00000023079
AA Change: V52A

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

noncoding transcript
Transcript: ENSMUST00000104249

Predicted Effect

probably damaging
Transcript: ENSMUST00000111244
AA Change: V52A

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

SMART Domains

Protein: ENSMUSP00000106875
Gene: ENSMUSG00000023079
AA Change: V52A

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

possibly damaging
Transcript: ENSMUST00000200944
AA Change: V52A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143848
Gene: ENSMUSG00000023079
AA Change: V52A

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

possibly damaging
Transcript: ENSMUST00000202554
AA Change: V52A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143809
Gene: ENSMUSG00000023079
AA Change: V52A

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

possibly damaging
Transcript: ENSMUST00000167084
AA Change: V52A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132882
Gene: ENSMUSG00000023079
AA Change: V52A

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

possibly damaging
Transcript: ENSMUST00000202280
AA Change: V52A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143897
Gene: ENSMUSG00000023079
AA Change: V52A

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

possibly damaging
Transcript: ENSMUST00000111245
AA Change: V52A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106876
Gene: ENSMUSG00000023079
AA Change: V52A

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 damaging
Transcript: ENSMUST00000201647
AA Change: V52A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000171794
AA Change: V52A

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

SMART Domains

Protein: ENSMUSP00000129392
Gene: ENSMUSG00000023079
AA Change: V52A

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

unknown
Transcript: ENSMUST00000201704
AA Change: V4A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202763

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

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: 133 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,824,795 (GRCm39)	K134R	possibly damaging	Het
Adamts17	T	C	7: 66,774,820 (GRCm39)	S980P	probably damaging	Het
Adap2	T	A	11: 80,061,508 (GRCm39)	I221K	probably damaging	Het
Adgrv1	C	T	13: 81,539,876 (GRCm39)	R5681Q	probably damaging	Het
Adipor1	T	A	1: 134,350,841 (GRCm39)	L30Q	probably benign	Het
Agpat5	A	G	8: 18,928,181 (GRCm39)	T249A	probably benign	Het
Agxt2	G	T	15: 10,392,021 (GRCm39)	G329V	probably damaging	Het
Ankrd28	A	G	14: 31,427,233 (GRCm39)	V801A	possibly damaging	Het
Ap1g2	A	G	14: 55,337,229 (GRCm39)	V702A	possibly damaging	Het
Arid3a	A	G	10: 79,786,540 (GRCm39)	Q429R	probably damaging	Het
Arsb	T	A	13: 93,998,658 (GRCm39)	L322Q	probably damaging	Het
Ash1l	A	G	3: 88,891,729 (GRCm39)	T1203A	probably damaging	Het
Atad2	T	A	15: 57,960,101 (GRCm39)	N1308Y	possibly damaging	Het
Atp10b	A	T	11: 43,121,245 (GRCm39)	R969S	probably benign	Het
Bmp10	T	C	6: 87,410,702 (GRCm39)	I165T	possibly damaging	Het
Ccdc121rt2	C	A	5: 112,597,667 (GRCm39)	C71*	probably null	Het
Ccne1	A	G	7: 37,805,702 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,953,240 (GRCm39)	N1565D	probably damaging	Het
Chd1	A	T	17: 15,982,748 (GRCm39)	E1404D	probably benign	Het
Chd7	G	A	4: 8,847,200 (GRCm39)	E1648K	probably damaging	Het
Chodl	T	C	16: 78,738,314 (GRCm39)	I94T	possibly damaging	Het
Chsy3	T	C	18: 59,542,584 (GRCm39)	F574S	probably damaging	Het
Clpb	A	T	7: 101,412,863 (GRCm39)	I317F	probably damaging	Het
Cnga3	T	A	1: 37,300,954 (GRCm39)	V558D	possibly damaging	Het
Col9a1	C	T	1: 24,261,554 (GRCm39)	P573S	probably damaging	Het
Crat	A	T	2: 30,303,073 (GRCm39)	D71E	probably benign	Het
Cspg4	A	G	9: 56,794,385 (GRCm39)	T707A	probably benign	Het
Ctsr	T	A	13: 61,310,259 (GRCm39)	R132S	probably benign	Het
Ctu2	T	C	8: 123,206,024 (GRCm39)	L255P	probably damaging	Het
Cyp2c69	T	C	19: 39,837,810 (GRCm39)	Y424C	probably damaging	Het
Ddx27	A	T	2: 166,876,029 (GRCm39)	K726N	probably damaging	Het
Dennd4a	A	G	9: 64,749,772 (GRCm39)	Q121R	probably damaging	Het
Dis3	A	G	14: 99,335,026 (GRCm39)	F192S	probably benign	Het
Ect2l	C	T	10: 18,020,383 (GRCm39)	S487N	probably benign	Het
Eml1	T	A	12: 108,487,655 (GRCm39)	F524L	possibly damaging	Het
Espl1	T	C	15: 102,213,477 (GRCm39)	I601T	probably benign	Het
Fbxo40	C	A	16: 36,789,713 (GRCm39)	V466L	probably damaging	Het
Frmpd1	C	T	4: 45,283,711 (GRCm39)	T844M	probably damaging	Het
Frs2	T	A	10: 116,917,011 (GRCm39)		probably benign	Het
Fuom	G	T	7: 139,679,521 (GRCm39)	T133K	probably benign	Het
Garnl3	T	A	2: 32,895,212 (GRCm39)	H619L	probably damaging	Het
Gm4861	G	T	3: 137,257,876 (GRCm39)	N36K	unknown	Het
Gps2	G	T	11: 69,806,195 (GRCm39)	M153I	probably benign	Het
Gtpbp8	A	T	16: 44,565,785 (GRCm39)	D137E	probably benign	Het
Haus4	A	G	14: 54,781,733 (GRCm39)	C213R	probably damaging	Het
Hdc	T	A	2: 126,448,317 (GRCm39)	H142L	possibly damaging	Het
Hephl1	T	C	9: 14,965,283 (GRCm39)	D1069G	possibly damaging	Het
Herc6	T	A	6: 57,602,926 (GRCm39)	V535D	probably damaging	Het
Hipk3	A	T	2: 104,260,533 (GRCm39)	H1082Q	possibly damaging	Het
Hps5	A	T	7: 46,422,691 (GRCm39)	V513D	probably damaging	Het
Ifna13	T	A	4: 88,562,412 (GRCm39)	I71F	probably damaging	Het
Il1rl2	T	C	1: 40,402,484 (GRCm39)	I426T	probably damaging	Het
Irf5	A	T	6: 29,536,738 (GRCm39)	D483V	probably benign	Het
Jakmip3	A	G	7: 138,621,867 (GRCm39)	R256G	probably damaging	Het
Jazf1	T	C	6: 52,754,600 (GRCm39)	I159V	probably damaging	Het
Kmo	A	G	1: 175,479,154 (GRCm39)	D230G	possibly damaging	Het
Lrrc74b	A	G	16: 17,371,058 (GRCm39)	V213A	probably benign	Het
LTO1	A	G	7: 144,470,205 (GRCm39)	S45G	probably damaging	Het
Ly6g5b	T	C	17: 35,333,704 (GRCm39)	D36G	possibly damaging	Het
Mab21l4	T	C	1: 93,079,730 (GRCm39)	*453W	probably null	Het
Macc1	T	G	12: 119,409,466 (GRCm39)	L78R	probably damaging	Het
Mettl4	A	T	17: 95,055,285 (GRCm39)	D51E	possibly damaging	Het
Mfap1a	G	A	2: 121,332,835 (GRCm39)	L199F	possibly damaging	Het
Mmp17	G	T	5: 129,679,190 (GRCm39)	R363L	probably damaging	Het
Mrc1	G	A	2: 14,324,052 (GRCm39)	A1130T	possibly damaging	Het
Mrpl15	C	T	1: 4,847,805 (GRCm39)	A165T	probably damaging	Het
Mrpl45	G	A	11: 97,206,770 (GRCm39)		probably null	Het
Ms4a3	C	T	19: 11,613,204 (GRCm39)	A85T	possibly damaging	Het
Mttp	A	T	3: 137,830,882 (GRCm39)	D77E	probably benign	Het
Muc6	A	G	7: 141,217,011 (GRCm39)	L2489P	probably damaging	Het
Myl3	G	A	9: 110,595,802 (GRCm39)	E100K	probably damaging	Het
Nbea	T	A	3: 55,992,743 (GRCm39)	N288Y	probably damaging	Het
Ncoa7	A	G	10: 30,574,166 (GRCm39)	V181A	probably benign	Het
Oat	C	T	7: 132,159,934 (GRCm39)	V429M	probably benign	Het
Or2ak6	A	T	11: 58,593,449 (GRCm39)	*307C	probably null	Het
Or4x6	T	G	2: 89,949,427 (GRCm39)	I172L	probably damaging	Het
Or5d36	A	T	2: 87,901,300 (GRCm39)	L142Q	probably damaging	Het
Or5p80	T	C	7: 108,230,045 (GRCm39)	I282T	probably benign	Het
Or5w19	G	A	2: 87,698,805 (GRCm39)	V157I	probably benign	Het
Or6b13	A	G	7: 139,782,144 (GRCm39)	F180L	probably benign	Het
Or6c69b	T	A	10: 129,626,759 (GRCm39)	K233M	probably damaging	Het
Or8b55	A	G	9: 38,727,146 (GRCm39)	T116A	probably benign	Het
Or8s16	T	A	15: 98,211,261 (GRCm39)	M57L	probably damaging	Het
Otof	A	G	5: 30,533,713 (GRCm39)	S1464P	probably benign	Het
Otogl	A	T	10: 107,613,436 (GRCm39)	Y2010N	probably damaging	Het
Pgap3	C	T	11: 98,291,040 (GRCm39)		probably null	Het
Pgbd5	T	A	8: 125,100,988 (GRCm39)	K332*	probably null	Het
Pgs1	C	T	11: 117,896,553 (GRCm39)	P410L	probably damaging	Het
Pkhd1l1	G	A	15: 44,363,434 (GRCm39)	S618N	probably benign	Het
Plcb1	A	T	2: 135,228,222 (GRCm39)	D1073V	probably damaging	Het
Pola2	T	A	19: 6,001,208 (GRCm39)	T309S	probably benign	Het
Polg2	T	A	11: 106,669,787 (GRCm39)	H161L	probably damaging	Het
Postn	T	A	3: 54,285,033 (GRCm39)		probably null	Het
Ppt1	G	T	4: 122,739,784 (GRCm39)	C128F	probably damaging	Het
Ptpn12	G	A	5: 21,198,261 (GRCm39)	P678S	probably damaging	Het
Rcan3	A	T	4: 135,139,812 (GRCm39)		probably null	Het
Rgs22	T	C	15: 36,101,950 (GRCm39)	N216S	probably benign	Het
Rgs7bp	T	A	13: 105,088,090 (GRCm39)	D228V	probably damaging	Het
Rhobtb2	A	T	14: 70,034,062 (GRCm39)	S388T	probably benign	Het
Rnps1	C	T	17: 24,639,364 (GRCm39)	R138C	unknown	Het
Rpl38	T	C	11: 114,562,602 (GRCm39)	V36A	probably benign	Het
Rps7	G	T	12: 28,681,752 (GRCm39)	H126Q	possibly damaging	Het
Sec24b	G	T	3: 129,785,010 (GRCm39)	Q999K	possibly damaging	Het
Slc19a3	A	G	1: 82,997,089 (GRCm39)	V373A	possibly damaging	Het
Spats2l	T	A	1: 57,924,941 (GRCm39)	V113E	probably benign	Het
Ss18l1	A	T	2: 179,705,138 (GRCm39)	T377S	unknown	Het
Surf1	A	G	2: 26,805,982 (GRCm39)	F38L	probably benign	Het
Ticrr	G	A	7: 79,325,142 (GRCm39)	R556H	probably damaging	Het
Tmem184b	A	G	15: 79,250,014 (GRCm39)	S254P	probably damaging	Het
Tnfrsf4	G	T	4: 156,100,692 (GRCm39)	R237L	possibly damaging	Het
Tnk2	C	A	16: 32,482,560 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,305,684 (GRCm39)	D1191E	probably damaging	Het
Tnr	C	A	1: 159,722,607 (GRCm39)	Y1017*	probably null	Het
Tomm34	A	G	2: 163,902,926 (GRCm39)	I128T	probably benign	Het
Trim2	G	A	3: 84,085,099 (GRCm39)	S540F	possibly damaging	Het
Trio	A	T	15: 27,732,977 (GRCm39)	I2968N	probably damaging	Het
Ttc24	T	C	3: 87,982,181 (GRCm39)	E17G	probably benign	Het
Ttc41	A	G	10: 86,612,078 (GRCm39)	H1117R	probably benign	Het
Ttn	A	T	2: 76,565,752 (GRCm39)	V28200D	probably damaging	Het
Ttn	A	T	2: 76,592,730 (GRCm39)	S20801T	possibly damaging	Het
Ube3d	C	T	9: 86,330,840 (GRCm39)	C114Y	probably damaging	Het
Ugt2b37	A	C	5: 87,388,716 (GRCm39)	L499R	probably damaging	Het
Vmn1r81	T	C	7: 11,994,589 (GRCm39)	I6M	possibly damaging	Het
Vmn2r97	A	T	17: 19,149,593 (GRCm39)	Y327F	probably benign	Het
Vps13b	T	C	15: 35,709,653 (GRCm39)	S1867P	probably damaging	Het
Wdr11	T	C	7: 129,208,331 (GRCm39)	V362A	probably benign	Het
Zan	T	A	5: 137,387,201 (GRCm39)	M4951L	unknown	Het
Zcwpw1	T	A	5: 137,809,884 (GRCm39)	L337Q	probably damaging	Het
Zfp2	A	T	11: 50,790,809 (GRCm39)	D411E	possibly damaging	Het
Zfp628	C	T	7: 4,923,767 (GRCm39)	T663I	probably benign	Het
Zfpm1	T	A	8: 123,061,663 (GRCm39)		probably null	Het
Zfyve19	T	C	2: 119,041,693 (GRCm39)	S87P	probably benign	Het
Zswim9	T	A	7: 12,994,141 (GRCm39)	K672*	probably null	Het

Other mutations in Gtf2ird1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00558:Gtf2ird1	APN	5	134,387,745 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- GTCTTTAGGCTGGACAAAGCAG -3'
(R):5'- TGGTCTAGAAGGCGTATCTCATC -3'

Sequencing Primer
(F):5'- CAGGAATGGGCCAGGACC -3'
(R):5'- GGCGTATCTCATCAAAAGCCTTG -3'

Posted On

2014-07-14