Mutagenetix > Incidental Mutation

Incidental Mutation 'R5011:Gtf2ird2'

390496

Institutional Source

Beutler Lab

Gene Symbol

Gtf2ird2

Ensembl Gene

ENSMUSG00000015942

Gene Name

GTF2I repeat domain containing 2

Synonyms

1700012P16Rik

MMRRC Submission

042602-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5011 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134211629-134246988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 134245824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 694 (S694I)

Ref Sequence

ENSEMBL: ENSMUSP00000016086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016086] [ENSMUST00000016094] [ENSMUST00000111275] [ENSMUST00000123941] [ENSMUST00000144086] [ENSMUST00000146354] [ENSMUST00000152587]

AlphaFold

Q99NI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016086
AA Change: S694I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942
AA Change: S694I

Domain	Start	End	E-Value	Type
Pfam:GTF2I	104	178	6.1e-31	PFAM
Pfam:GTF2I	328	402	1.6e-25	PFAM
Blast:Tryp_SPc	436	491	4e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000016094

SMART Domains

Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	403	1.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111275

SMART Domains

Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	390	5.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128842

Predicted Effect

probably benign
Transcript: ENSMUST00000135588

Predicted Effect

probably benign
Transcript: ENSMUST00000144086

SMART Domains

Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
low complexity region	336	344	N/A	INTRINSIC
low complexity region	349	367	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182626

Predicted Effect

probably benign
Transcript: ENSMUST00000146354

SMART Domains

Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	390	5.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152587

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (104/104)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	T	C	11: 106,919,324 (GRCm39)	V223A	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ahctf1	A	T	1: 179,611,675 (GRCm39)	I565N	possibly damaging	Het
Ank1	C	T	8: 23,572,300 (GRCm39)	T70I	probably damaging	Het
Atg16l1	C	A	1: 87,701,902 (GRCm39)	S248*	probably null	Het
Atp13a5	A	T	16: 29,169,566 (GRCm39)	L42Q	probably damaging	Het
Atxn1	T	C	13: 45,710,545 (GRCm39)	N796D	probably damaging	Het
C3	T	A	17: 57,530,236 (GRCm39)	Y455F	probably benign	Het
Card11	A	T	5: 140,862,275 (GRCm39)	D1007E	possibly damaging	Het
Cbr2	T	C	11: 120,621,697 (GRCm39)	D60G	possibly damaging	Het
Cgn	T	A	3: 94,683,455 (GRCm39)	E400V	probably null	Het
Chil3	T	A	3: 106,057,477 (GRCm39)	Y229F	possibly damaging	Het
Clcn2	G	A	16: 20,525,965 (GRCm39)	P785S	probably damaging	Het
Clk1	T	C	1: 58,453,642 (GRCm39)	I315V	probably benign	Het
Cops6	A	G	5: 138,160,459 (GRCm39)	D102G	probably benign	Het
Dennd5a	A	G	7: 109,513,983 (GRCm39)	I743T	possibly damaging	Het
Dnaaf5	T	A	5: 139,149,012 (GRCm39)	L437Q	probably damaging	Het
Dnah12	T	A	14: 26,431,326 (GRCm39)	D381E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Draxin	C	A	4: 148,192,436 (GRCm39)	R292L	probably damaging	Het
Dst	T	C	1: 34,289,728 (GRCm39)	V5776A	probably damaging	Het
Eddm13	G	A	7: 6,269,332 (GRCm39)		probably benign	Het
Ercc4	G	A	16: 12,941,445 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,254,582 (GRCm39)	N417Y	probably damaging	Het
Fam149b	T	A	14: 20,413,439 (GRCm39)	H219Q	possibly damaging	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fat1	A	T	8: 45,484,300 (GRCm39)		probably null	Het
Fbxl18	A	G	5: 142,872,435 (GRCm39)	S267P	probably damaging	Het
Fer1l4	T	C	2: 155,873,135 (GRCm39)	Y1315C	probably damaging	Het
Fgd2	T	C	17: 29,593,954 (GRCm39)		probably null	Het
Gm7251	T	A	13: 49,958,656 (GRCm39)		noncoding transcript	Het
Golt1a	T	C	1: 133,248,006 (GRCm39)	V78A	probably damaging	Het
Gsn	T	A	2: 35,188,933 (GRCm39)	Y440N	probably damaging	Het
H2-Ob	T	A	17: 34,460,253 (GRCm39)		probably null	Het
Hsp90b1	T	C	10: 86,532,617 (GRCm39)	D353G	probably benign	Het
Ilk	A	G	7: 105,391,456 (GRCm39)	D374G	probably damaging	Het
Invs	G	A	4: 48,421,807 (GRCm39)	R813Q	probably damaging	Het
Itga7	G	A	10: 128,785,316 (GRCm39)	V836M	possibly damaging	Het
Itln1	T	A	1: 171,360,958 (GRCm39)	K45*	probably null	Het
Ivd	A	G	2: 118,710,946 (GRCm39)	Y385C	probably damaging	Het
Ivns1abp	T	A	1: 151,238,953 (GRCm39)	M589K	possibly damaging	Het
Jakmip3	C	T	7: 138,621,951 (GRCm39)	R284W	probably damaging	Het
Kank3	T	C	17: 34,041,044 (GRCm39)	L512P	probably damaging	Het
Kcnn2	T	A	18: 45,818,352 (GRCm39)	I483N	possibly damaging	Het
Klk1b4	A	G	7: 43,860,492 (GRCm39)	N170S	probably benign	Het
Klk1b9	A	C	7: 43,445,419 (GRCm39)	D203A	probably damaging	Het
Lbr	A	T	1: 181,647,453 (GRCm39)	Y199*	probably null	Het
Lcn6	T	A	2: 25,567,082 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,025,784 (GRCm39)	D946G	probably damaging	Het
Ltbp1	T	A	17: 75,373,152 (GRCm39)	L265H	probably damaging	Het
Maml3	A	T	3: 51,598,196 (GRCm39)	N183K	possibly damaging	Het
Mprip	T	C	11: 59,650,721 (GRCm39)	V1475A	possibly damaging	Het
Myh4	C	A	11: 67,147,189 (GRCm39)	S1611R	probably benign	Het
Nagpa	A	T	16: 5,013,743 (GRCm39)	M365K	probably benign	Het
Nckap5l	G	T	15: 99,324,457 (GRCm39)	P682Q	probably benign	Het
Nudt12	T	C	17: 59,303,499 (GRCm39)		probably benign	Het
Nup153	T	C	13: 46,840,879 (GRCm39)	T910A	possibly damaging	Het
Or1e31	T	A	11: 73,690,473 (GRCm39)	T37S	possibly damaging	Het
Or5ae2	T	C	7: 84,505,646 (GRCm39)	V23A	probably damaging	Het
Or7c74	A	G	2: 37,160,937 (GRCm39)		noncoding transcript	Het
Or8k53	A	T	2: 86,177,647 (GRCm39)	F154L	probably benign	Het
Pate14	T	C	9: 36,549,120 (GRCm39)	N47D	probably benign	Het
Pbx2	T	A	17: 34,813,673 (GRCm39)	C224*	probably null	Het
Pcdha6	A	G	18: 37,100,960 (GRCm39)	D51G	probably damaging	Het
Pnpla1	C	T	17: 29,104,558 (GRCm39)	T538I	possibly damaging	Het
Pnpla2	T	C	7: 141,039,204 (GRCm39)		probably null	Het
Psme2b	C	T	11: 48,836,654 (GRCm39)	E98K	probably benign	Het
Ranbp2	T	A	10: 58,297,717 (GRCm39)	S375T	probably benign	Het
Rimbp2	T	C	5: 128,880,985 (GRCm39)	Y134C	probably damaging	Het
Ryr1	G	A	7: 28,802,234 (GRCm39)		probably null	Het
Sh3tc1	G	T	5: 35,857,633 (GRCm39)	A1185D	probably damaging	Het
Sin3b	G	A	8: 73,471,184 (GRCm39)	S377N	probably benign	Het
Slc28a2	T	C	2: 122,288,371 (GRCm39)	M554T	possibly damaging	Het
Snhg11	T	C	2: 158,218,872 (GRCm39)		probably benign	Het
Spink5	A	T	18: 44,139,479 (GRCm39)	N614I	probably damaging	Het
Tert	T	C	13: 73,794,428 (GRCm39)		probably null	Het
Thap4	T	C	1: 93,677,598 (GRCm39)	Y396C	probably damaging	Het
Tle2	T	C	10: 81,420,531 (GRCm39)	L348P	probably damaging	Het
Tmem104	T	C	11: 115,134,312 (GRCm39)	S283P	probably damaging	Het
Tnn	T	C	1: 159,953,949 (GRCm39)	E602G	possibly damaging	Het
Tpm4	A	G	8: 72,900,938 (GRCm39)	K190R	probably benign	Het
Ttf2	T	C	3: 100,870,485 (GRCm39)	E196G	probably benign	Het
Ugt3a1	T	C	15: 9,365,373 (GRCm39)	W329R	probably damaging	Het
Unc13a	G	A	8: 72,094,121 (GRCm39)	Q1327*	probably null	Het
Vmn1r194	C	T	13: 22,429,058 (GRCm39)	T225I	probably benign	Het
Vmn1r215	T	C	13: 23,260,721 (GRCm39)	S254P	probably damaging	Het
Vmn2r109	T	C	17: 20,775,451 (GRCm39)	E92G	probably damaging	Het
Ythdc2	A	G	18: 44,987,809 (GRCm39)	M625V	probably benign	Het
Zfp106	A	G	2: 120,341,015 (GRCm39)	W1832R	probably damaging	Het
Zfp189	G	A	4: 49,530,438 (GRCm39)	G514S	probably damaging	Het
Zfp768	T	C	7: 126,942,875 (GRCm39)	R418G	probably damaging	Het
Zmynd11	C	T	13: 9,739,479 (GRCm39)		probably benign	Het

Other mutations in Gtf2ird2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Gtf2ird2	APN	5	134,225,394 (GRCm39)	missense	possibly damaging	0.93
IGL01295:Gtf2ird2	APN	5	134,221,603 (GRCm39)	missense	probably damaging	1.00
IGL01603:Gtf2ird2	APN	5	134,231,129 (GRCm39)	splice site	probably benign
IGL01824:Gtf2ird2	APN	5	134,226,123 (GRCm39)	splice site	probably benign
IGL02469:Gtf2ird2	APN	5	134,220,088 (GRCm39)	missense	probably damaging	1.00
IGL02525:Gtf2ird2	APN	5	134,245,319 (GRCm39)	missense	probably benign	0.03
IGL02567:Gtf2ird2	APN	5	134,241,890 (GRCm39)	unclassified	probably benign
IGL02750:Gtf2ird2	APN	5	134,245,731 (GRCm39)	missense	probably damaging	0.99
IGL02992:Gtf2ird2	APN	5	134,246,456 (GRCm39)	missense	possibly damaging	0.79
IGL03000:Gtf2ird2	APN	5	134,223,745 (GRCm39)	missense	probably benign	0.45
IGL03114:Gtf2ird2	APN	5	134,245,752 (GRCm39)	splice site	probably null
IGL03180:Gtf2ird2	APN	5	134,220,087 (GRCm39)	missense	probably damaging	1.00
R0077:Gtf2ird2	UTSW	5	134,242,925 (GRCm39)	missense	probably damaging	1.00
R0100:Gtf2ird2	UTSW	5	134,245,857 (GRCm39)	missense	probably damaging	0.97
R0100:Gtf2ird2	UTSW	5	134,245,857 (GRCm39)	missense	probably damaging	0.97
R0344:Gtf2ird2	UTSW	5	134,220,088 (GRCm39)	missense	probably damaging	1.00
R0568:Gtf2ird2	UTSW	5	134,240,083 (GRCm39)	nonsense	probably null
R0570:Gtf2ird2	UTSW	5	134,237,785 (GRCm39)	critical splice donor site	probably null
R0730:Gtf2ird2	UTSW	5	134,221,597 (GRCm39)	nonsense	probably null
R0826:Gtf2ird2	UTSW	5	134,245,797 (GRCm39)	missense	probably damaging	1.00
R1707:Gtf2ird2	UTSW	5	134,245,829 (GRCm39)	missense	probably damaging	1.00
R1710:Gtf2ird2	UTSW	5	134,240,081 (GRCm39)	missense	probably benign	0.26
R2064:Gtf2ird2	UTSW	5	134,245,340 (GRCm39)	nonsense	probably null
R2284:Gtf2ird2	UTSW	5	134,246,025 (GRCm39)	missense	probably benign	0.05
R2375:Gtf2ird2	UTSW	5	134,245,977 (GRCm39)	missense	probably benign	0.20
R3104:Gtf2ird2	UTSW	5	134,237,756 (GRCm39)	missense	probably benign	0.42
R4436:Gtf2ird2	UTSW	5	134,223,808 (GRCm39)	missense	possibly damaging	0.95
R4647:Gtf2ird2	UTSW	5	134,245,034 (GRCm39)	missense	probably damaging	1.00
R4708:Gtf2ird2	UTSW	5	134,245,140 (GRCm39)	missense	probably damaging	0.99
R4775:Gtf2ird2	UTSW	5	134,242,970 (GRCm39)	missense	probably benign	0.01
R4999:Gtf2ird2	UTSW	5	134,246,306 (GRCm39)	missense	probably damaging	0.97
R5036:Gtf2ird2	UTSW	5	134,246,349 (GRCm39)	missense	probably damaging	1.00
R5261:Gtf2ird2	UTSW	5	134,245,061 (GRCm39)	missense	probably benign	0.00
R5379:Gtf2ird2	UTSW	5	134,246,310 (GRCm39)	missense	probably benign
R5921:Gtf2ird2	UTSW	5	134,246,426 (GRCm39)	missense	probably damaging	1.00
R6180:Gtf2ird2	UTSW	5	134,245,389 (GRCm39)	missense	probably damaging	1.00
R6483:Gtf2ird2	UTSW	5	134,240,066 (GRCm39)	missense	probably benign	0.00
R7355:Gtf2ird2	UTSW	5	134,245,491 (GRCm39)	missense	probably benign	0.24
R7475:Gtf2ird2	UTSW	5	134,230,267 (GRCm39)	missense	possibly damaging	0.47
R7566:Gtf2ird2	UTSW	5	134,242,848 (GRCm39)	missense	probably damaging	1.00
R8021:Gtf2ird2	UTSW	5	134,232,175 (GRCm39)	missense	probably benign
R8701:Gtf2ird2	UTSW	5	134,245,077 (GRCm39)	missense	probably damaging	1.00
R8756:Gtf2ird2	UTSW	5	134,226,090 (GRCm39)	missense	possibly damaging	0.80
R8898:Gtf2ird2	UTSW	5	134,226,106 (GRCm39)	missense	probably benign
R8932:Gtf2ird2	UTSW	5	134,237,739 (GRCm39)	missense	probably benign	0.00
R8946:Gtf2ird2	UTSW	5	134,245,161 (GRCm39)	missense	probably damaging	1.00
R8955:Gtf2ird2	UTSW	5	134,245,596 (GRCm39)	missense	probably damaging	0.98
R9065:Gtf2ird2	UTSW	5	134,225,407 (GRCm39)	missense	probably damaging	0.99
R9288:Gtf2ird2	UTSW	5	134,221,571 (GRCm39)	missense	possibly damaging	0.82
R9566:Gtf2ird2	UTSW	5	134,246,256 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGGTGACAAAGCTCAGAG -3'
(R):5'- TCAGCTCCACGATCTTAGGG -3'

Sequencing Primer
(F):5'- AGCCTCATGTTGCAAGGG -3'
(R):5'- GAAGTCATACATCTGGGTCACGATC -3'

Posted On

2016-06-06