Mutagenetix > Incidental Mutation

Incidental Mutation 'R0344:Gtf2ird2'

26428

Institutional Source

Beutler Lab

Gene Symbol

Gtf2ird2

Ensembl Gene

ENSMUSG00000015942

Gene Name

GTF2I repeat domain containing 2

Synonyms

1700012P16Rik

MMRRC Submission

038551-MU

Accession Numbers

Essential gene?

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

Stock #

R0344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134211629-134246988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134220088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 22 (T22M)

Ref Sequence

ENSEMBL: ENSMUSP00000016086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016086] [ENSMUST00000123941]

AlphaFold

Q99NI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000016086
AA Change: T22M

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

SMART Domains

Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942
AA Change: T22M

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 damaging
Transcript: ENSMUST00000123941
AA Change: T22M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,617,189 (GRCm39)	C29*	probably null	Het
Abca4	G	A	3: 121,877,613 (GRCm39)	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,994,277 (GRCm39)		probably benign	Het
Abr	A	T	11: 76,369,870 (GRCm39)	V115E	probably damaging	Het
Adgrl2	C	T	3: 148,571,231 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,013 (GRCm39)	S936T	probably benign	Het
Agap3	T	C	5: 24,656,200 (GRCm39)		probably benign	Het
Ahrr	T	A	13: 74,362,705 (GRCm39)	S393C	probably damaging	Het
Amfr	T	C	8: 94,713,998 (GRCm39)		probably null	Het
Ankrd26	C	A	6: 118,484,598 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,668 (GRCm39)	V886I	probably benign	Het
Atp5f1a	C	A	18: 77,867,895 (GRCm39)	N356K	probably damaging	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,827,731 (GRCm39)	D162G	probably benign	Het
Camkk2	C	T	5: 122,901,940 (GRCm39)	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Catsperg1	A	T	7: 28,894,965 (GRCm39)	V544E	probably damaging	Het
Cdc27	G	A	11: 104,417,817 (GRCm39)		probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dmac2l	T	C	12: 69,787,663 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gdap2	G	A	3: 100,085,572 (GRCm39)	G165S	probably damaging	Het
Gns	A	G	10: 121,219,328 (GRCm39)	K352E	probably benign	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Inpp1	A	T	1: 52,838,513 (GRCm39)	F45L	probably damaging	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,008,973 (GRCm39)	K485E	probably benign	Het
Jak2	G	A	19: 29,261,029 (GRCm39)	V342I	probably damaging	Het
Kptn	C	A	7: 15,859,666 (GRCm39)	Q297K	probably damaging	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nup133	A	G	8: 124,644,185 (GRCm39)	V727A	possibly damaging	Het
Oas2	T	G	5: 120,881,152 (GRCm39)	E313A	probably damaging	Het
Or10d4c	G	A	9: 39,558,646 (GRCm39)	C208Y	probably damaging	Het
Or52b2	C	A	7: 104,986,814 (GRCm39)	M36I	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m8	T	A	2: 85,822,726 (GRCm39)	C188*	probably null	Het
Or5p63	A	T	7: 107,810,949 (GRCm39)	Y262*	probably null	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgap4	T	C	4: 49,586,566 (GRCm39)	T201A	probably benign	Het
Phldb1	C	A	9: 44,612,964 (GRCm39)	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Plekhg3	G	T	12: 76,613,040 (GRCm39)	E449*	probably null	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Pstpip1	T	C	9: 56,033,929 (GRCm39)	V301A	probably benign	Het
Ptdss1	G	A	13: 67,081,636 (GRCm39)	R22H	probably damaging	Het
Ptprq	A	G	10: 107,541,443 (GRCm39)	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,188,714 (GRCm39)	V1309E	possibly damaging	Het
Rere	T	C	4: 150,695,438 (GRCm39)		probably benign	Het
Sbk3	T	A	7: 4,970,404 (GRCm39)	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,335,354 (GRCm39)	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,233,442 (GRCm39)		probably benign	Het
Sik3	C	A	9: 46,120,109 (GRCm39)	Q683K	probably damaging	Het
Slc24a5	A	G	2: 124,927,621 (GRCm39)	I307V	probably benign	Het
Smg6	A	G	11: 74,820,647 (GRCm39)	D306G	probably damaging	Het
Snx13	G	A	12: 35,136,899 (GRCm39)	W120*	probably null	Het
Snx5	A	G	2: 144,099,128 (GRCm39)		probably benign	Het
Srsf5	T	C	12: 80,994,298 (GRCm39)	S76P	probably benign	Het
Stard6	A	G	18: 70,629,186 (GRCm39)	D31G	probably damaging	Het
Taf3	A	G	2: 9,956,709 (GRCm39)	M333T	probably benign	Het
Taf6	T	G	5: 138,179,409 (GRCm39)	I377L	probably benign	Het
Taf8	G	T	17: 47,804,505 (GRCm39)	N252K	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Tmtc4	C	T	14: 123,215,572 (GRCm39)	V25M	probably damaging	Het
Topbp1	T	A	9: 103,205,886 (GRCm39)	D841E	probably damaging	Het
Topbp1	T	A	9: 103,185,932 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,542,833 (GRCm39)	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,838,067 (GRCm39)	E928G	probably benign	Het
Vav1	T	C	17: 57,603,090 (GRCm39)	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,553,042 (GRCm39)	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,315,806 (GRCm39)	E87K	probably damaging	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	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
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
R5011:Gtf2ird2	UTSW	5	134,245,824 (GRCm39)	missense	possibly damaging	0.90
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'- TTCACACCCACAGAGCTGTCATCCTG -3'
(R):5'- GTTAAATGCAGCAGTGAACCATCCCC -3'

Sequencing Primer
(F):5'- ACAGAGCTGTCATCCTGTGATTG -3'
(R):5'- tgattcccccagacccac -3'

Posted On

2013-04-16