Mutagenetix > Incidental Mutation

Incidental Mutation 'R1544:Gtf2ird1'

172004

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

039583-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R1544 (G1)

Quality Score

111

Status

Validated

Chromosome

Chromosomal Location

134386510-134485570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134387772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1028 (S1028T)

Ref Sequence

ENSEMBL: ENSMUSP00000143809 (fasta)

Gene Model

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

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: S971T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000073752
Gene: ENSMUSG00000023079
AA Change: S971T

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: S1047T

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

SMART Domains

Protein: ENSMUSP00000098215
Gene: ENSMUSG00000023079
AA Change: S1047T

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: S1074T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098217
Gene: ENSMUSG00000023079
AA Change: S1074T

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

possibly damaging
Transcript: ENSMUST00000202554
AA Change: S1028T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143809
Gene: ENSMUSG00000023079
AA Change: S1028T

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: ENSMUST00000201608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202268

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

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: 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: 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

Meta Mutation Damage Score

0.0727

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.9%

Validation Efficiency

99% (114/115)

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,147,543 (GRCm39)	I182T	possibly damaging	Het
4933406P04Rik	A	G	10: 20,187,105 (GRCm39)		probably benign	Het
A730018C14Rik	A	G	12: 112,381,924 (GRCm39)		noncoding transcript	Het
Aacs	A	T	5: 125,593,394 (GRCm39)	I666F	possibly damaging	Het
Abcb9	C	T	5: 124,221,694 (GRCm39)	V227I	probably benign	Het
Abcd3	T	C	3: 121,578,122 (GRCm39)	Q168R	probably benign	Het
Adamts4	A	G	1: 171,080,311 (GRCm39)	Q288R	probably benign	Het
Atad2	G	A	15: 57,966,760 (GRCm39)	A611V	probably damaging	Het
Aup1	T	C	6: 83,032,187 (GRCm39)	V118A	possibly damaging	Het
Bend7	T	A	2: 4,768,122 (GRCm39)		probably benign	Het
Brd4	A	G	17: 32,417,646 (GRCm39)		probably benign	Het
C4b	C	A	17: 34,957,941 (GRCm39)	R580L	probably benign	Het
Cct8	G	T	16: 87,288,342 (GRCm39)		probably benign	Het
Cfhr4	A	T	1: 139,664,608 (GRCm39)	C484S	probably damaging	Het
Cilp	T	C	9: 65,183,127 (GRCm39)	Y344H	probably benign	Het
Clic6	A	T	16: 92,288,961 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,703 (GRCm39)	S247P	probably damaging	Het
Csf2rb	G	T	15: 78,224,955 (GRCm39)	A212S	probably benign	Het
Csmd3	A	C	15: 47,475,294 (GRCm39)		probably null	Het
Cyp26c1	A	G	19: 37,679,393 (GRCm39)	D366G	probably benign	Het
Dhx33	A	G	11: 70,890,354 (GRCm39)	S222P	probably damaging	Het
Dhx40	T	A	11: 86,697,379 (GRCm39)	I63F	possibly damaging	Het
Dipk2b	A	C	X: 18,286,701 (GRCm39)	L285V	possibly damaging	Het
Dlgap2	T	A	8: 14,879,861 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,105,957 (GRCm39)	D20E	unknown	Het
Dnase2b	C	A	3: 146,290,312 (GRCm39)	A220S	probably benign	Het
Dock10	T	C	1: 80,570,352 (GRCm39)	E362G	probably benign	Het
Ect2l	C	T	10: 18,044,182 (GRCm39)	V226I	probably benign	Het
Epha10	C	A	4: 124,779,389 (GRCm39)	N78K	probably damaging	Het
Epha3	A	G	16: 63,593,416 (GRCm39)	V224A	probably damaging	Het
Fcgr4	C	A	1: 170,847,523 (GRCm39)	D40E	probably damaging	Het
Fer1l4	T	C	2: 155,887,553 (GRCm39)	M548V	probably benign	Het
Flii	C	T	11: 60,610,518 (GRCm39)		probably null	Het
Flnc	A	T	6: 29,444,079 (GRCm39)	Y631F	probably benign	Het
Gm6871	A	C	7: 41,195,514 (GRCm39)		probably null	Het
Hycc1	A	T	5: 24,170,139 (GRCm39)	D403E	probably benign	Het
Hydin	A	G	8: 111,301,486 (GRCm39)	H3739R	probably benign	Het
Iqcg	A	T	16: 32,865,895 (GRCm39)	N149K	probably benign	Het
Iqgap3	A	G	3: 88,006,200 (GRCm39)	D537G	probably benign	Het
Itih2	T	G	2: 10,110,025 (GRCm39)	D576A	probably benign	Het
Kcmf1	T	C	6: 72,825,212 (GRCm39)	T243A	probably benign	Het
Kif1a	A	G	1: 93,002,670 (GRCm39)		probably benign	Het
Klf10	C	T	15: 38,297,030 (GRCm39)	G337S	probably damaging	Het
Krt31	T	C	11: 99,938,699 (GRCm39)	N298S	possibly damaging	Het
Lmnb1	A	G	18: 56,882,823 (GRCm39)	E556G	probably benign	Het
Mael	A	T	1: 166,029,859 (GRCm39)	S354T	probably benign	Het
Mast3	T	C	8: 71,238,816 (GRCm39)	D496G	probably damaging	Het
Med12l	A	G	3: 59,172,661 (GRCm39)	T1806A	possibly damaging	Het
Mms19	A	G	19: 41,944,260 (GRCm39)		probably null	Het
Moap1	A	T	12: 102,709,504 (GRCm39)	M15K	possibly damaging	Het
Mpv17l	G	T	16: 13,764,683 (GRCm39)	W70L	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myo7b	T	C	18: 32,127,962 (GRCm39)	I577V	probably benign	Het
Myo9b	T	A	8: 71,743,620 (GRCm39)	L227Q	probably damaging	Het
Myom2	T	C	8: 15,154,059 (GRCm39)		probably benign	Het
Naip6	C	A	13: 100,452,983 (GRCm39)	R26L	probably benign	Het
Nbea	T	C	3: 55,966,248 (GRCm39)	T405A	probably damaging	Het
Nrp2	T	A	1: 62,802,063 (GRCm39)	I502N	probably damaging	Het
Nt5el	A	T	13: 105,246,129 (GRCm39)	H230L	probably benign	Het
Nufip2	G	A	11: 77,582,733 (GRCm39)	E216K	possibly damaging	Het
Oaf	A	G	9: 43,133,930 (GRCm39)	Y264H	probably damaging	Het
Or51a42	A	G	7: 103,708,431 (GRCm39)	V126A	probably damaging	Het
Or5m10	T	C	2: 85,717,615 (GRCm39)	L157P	probably damaging	Het
Or6c217	A	T	10: 129,738,293 (GRCm39)	C95*	probably null	Het
Pax1	T	C	2: 147,210,321 (GRCm39)	V352A	probably damaging	Het
Pkd1l2	TGGG	TGG	8: 117,764,974 (GRCm39)		probably null	Het
Plxna3	G	A	X: 73,383,772 (GRCm39)		probably null	Het
Pnpla3	T	C	15: 84,065,247 (GRCm39)	V347A	probably benign	Het
Ppl	T	A	16: 4,920,461 (GRCm39)	K350*	probably null	Het
Pramel28	T	C	4: 143,692,632 (GRCm39)	D123G	probably benign	Het
Prb1a	T	A	6: 132,186,424 (GRCm39)		probably null	Het
Prb1a	C	A	6: 132,186,423 (GRCm39)		probably null	Het
Ptpn11	G	A	5: 121,275,574 (GRCm39)	H540Y	probably benign	Het
Ptprz1	C	A	6: 23,000,747 (GRCm39)	H946N	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rad51b	A	G	12: 79,349,317 (GRCm39)	E51G	possibly damaging	Het
Rin2	T	C	2: 145,700,366 (GRCm39)	V181A	probably damaging	Het
Rnf157	T	A	11: 116,245,188 (GRCm39)		probably null	Het
Rnf207	A	G	4: 152,398,328 (GRCm39)		probably benign	Het
Ror1	A	T	4: 100,299,183 (GRCm39)	K852M	probably damaging	Het
Sbp	T	A	17: 24,164,043 (GRCm39)	I102K	probably benign	Het
Scaf8	T	C	17: 3,195,429 (GRCm39)	I33T	probably damaging	Het
Scn5a	C	T	9: 119,315,699 (GRCm39)	V1670I	probably damaging	Het
Serhl	C	T	15: 82,989,877 (GRCm39)	T42M	probably damaging	Het
Sin3a	A	G	9: 57,011,281 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,012,374 (GRCm39)	S166G	probably benign	Het
Slc15a4	G	A	5: 127,680,832 (GRCm39)	H396Y	probably benign	Het
Slc2a7	A	T	4: 150,239,143 (GRCm39)	N123Y	probably damaging	Het
Smpd3	G	A	8: 106,992,199 (GRCm39)	T118M	possibly damaging	Het
Spns2	A	T	11: 72,347,193 (GRCm39)	I427N	probably benign	Het
Ssmem1	T	A	6: 30,519,650 (GRCm39)	S112T	probably damaging	Het
Stard10	A	T	7: 100,993,233 (GRCm39)	D190V	probably damaging	Het
Stil	A	T	4: 114,881,049 (GRCm39)	K531M	probably damaging	Het
Strc	T	C	2: 121,203,219 (GRCm39)		probably null	Het
Svil	T	A	18: 5,046,817 (GRCm39)	I21N	possibly damaging	Het
Syt11	T	C	3: 88,656,110 (GRCm39)	M14V	probably benign	Het
Tasor2	A	T	13: 3,640,413 (GRCm39)	H241Q	possibly damaging	Het
Tg	A	T	15: 66,577,081 (GRCm39)	Q1468L	probably benign	Het
Tjp1	A	G	7: 64,952,669 (GRCm39)	V1555A	probably benign	Het
Tmprss11d	A	C	5: 86,486,658 (GRCm39)	S77R	probably damaging	Het
Tsnaxip1	A	G	8: 106,554,383 (GRCm39)		probably benign	Het
Tyr	C	A	7: 87,141,914 (GRCm39)	L138F	probably damaging	Het
Ubash3b	A	G	9: 40,927,901 (GRCm39)	V469A	probably damaging	Het
Ugt8a	T	C	3: 125,709,098 (GRCm39)	Y4C	probably benign	Het
Vmn1r201	A	T	13: 22,658,968 (GRCm39)	T61S	probably benign	Het
Vmn1r204	A	G	13: 22,740,465 (GRCm39)	H32R	probably benign	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Wdr90	T	C	17: 26,068,284 (GRCm39)	D1348G	possibly damaging	Het
Zfp563	T	A	17: 33,324,187 (GRCm39)	C261S	probably benign	Het
Zfp809	T	A	9: 22,146,395 (GRCm39)	L28Q	probably damaging	Het
Znrf3	T	A	11: 5,239,066 (GRCm39)	Q99L	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AAAGATGGAGGTTGAGTTCTGTCACG -3'
(R):5'- GCTACTGTTTCTTCCACCAGCCAAAG -3'

Sequencing Primer
(F):5'- GTGACCTTCCCCCTCTGG -3'
(R):5'- TTCCCAAGCGCAAGAGAAAG -3'

Posted On

2014-04-13