Mutagenetix > Incidental Mutations

Incidental Mutation 'R2125:Tfip11'

229747

Institutional Source

Beutler Lab

Gene Symbol

Tfip11

Ensembl Gene

ENSMUSG00000029345

Gene Name

tuftelin interacting protein 11

Synonyms

Tip39

MMRRC Submission

040128-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R2125 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112326358-112338073 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112335663 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 648 (V648A)

Ref Sequence

ENSEMBL: ENSMUSP00000031288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031288] [ENSMUST00000031289] [ENSMUST00000146510] [ENSMUST00000198238]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031288
AA Change: V648A

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031288
Gene: ENSMUSG00000029345
AA Change: V648A

Domain	Start	End	E-Value	Type
Pfam:TIP_N	17	114	1.4e-30	PFAM
G_patch	148	194	3.3e-18	SMART
low complexity region	212	218	N/A	INTRINSIC
low complexity region	228	242	N/A	INTRINSIC
Pfam:GCFC	398	667	3.4e-102	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031289

SMART Domains

Protein: ENSMUSP00000031289
Gene: ENSMUSG00000029346

Domain	Start	End	E-Value	Type
low complexity region	13	54	N/A	INTRINSIC
Pfam:SRR1	109	164	2.1e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126736

Predicted Effect

probably benign
Transcript: ENSMUST00000146510

SMART Domains

Protein: ENSMUSP00000119870
Gene: ENSMUSG00000029346

Domain	Start	End	E-Value	Type
low complexity region	12	53	N/A	INTRINSIC
Pfam:SRR1	109	162	1.8e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156083

Predicted Effect

probably benign
Transcript: ENSMUST00000198238

SMART Domains

Protein: ENSMUSP00000142844
Gene: ENSMUSG00000029345

Domain	Start	End	E-Value	Type
G_patch	8	54	1.9e-20	SMART
low complexity region	72	78	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box helicase 15. The encoded protein contains a G-patch domain, a hallmark of RNA-processing proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targeting sequence, enabling it to localize to distinct speckled regions within the cell nucleus. Polymorphisms in this gene are associated with dental caries suggesting a role in amelogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	T	7: 28,158,022	Y2265F	probably benign	Het
Aadac	A	G	3: 60,039,645	T255A	possibly damaging	Het
Abcb10	A	C	8: 123,965,092	V378G	probably benign	Het
Ackr2	C	T	9: 121,908,786	R76*	probably null	Het
Acly	T	C	11: 100,523,496	T35A	probably benign	Het
Acp7	A	C	7: 28,629,549	F69V	probably damaging	Het
Acsl3	T	A	1: 78,681,961	I110N	probably damaging	Het
Adam5	C	T	8: 24,815,118	V107M	probably damaging	Het
Adck2	T	C	6: 39,575,142	V281A	probably benign	Het
Adgrv1	A	G	13: 81,419,535	V5173A	probably benign	Het
Adgrv1	A	T	13: 81,419,950	S5035T	probably benign	Het
AI314180	T	C	4: 58,833,978	H834R	probably benign	Het
Arl10	T	A	13: 54,579,124		probably null	Het
B3gnt3	A	G	8: 71,693,358	W176R	probably damaging	Het
B4galt4	T	C	16: 38,765,938	I3T	probably damaging	Het
Casr	T	C	16: 36,495,252	I819V	possibly damaging	Het
Cdh1	T	C	8: 106,656,840	V237A	probably damaging	Het
Col22a1	G	A	15: 71,848,577	R605C	unknown	Het
Crlf3	A	G	11: 80,059,255	V183A	probably benign	Het
Crtac1	C	A	19: 42,323,732	V181L	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,724,458	R725*	probably null	Het
Dnhd1	A	T	7: 105,677,971	H709L	probably benign	Het
Dopey1	A	G	9: 86,521,046	Y1431C	probably damaging	Het
Eif2ak4	A	T	2: 118,422,123	H392L	probably benign	Het
Entpd3	T	C	9: 120,555,654	I99T	probably damaging	Het
Epha6	T	C	16: 59,682,688	D952G	probably damaging	Het
Exoc6	T	C	19: 37,590,941	L429P	probably damaging	Het
F13a1	A	G	13: 36,892,841	S625P	probably benign	Het
Fcho2	T	C	13: 98,775,898	N240S	possibly damaging	Het
Fcrl6	C	T	1: 172,599,248	V44M	probably benign	Het
Fmo6	A	T	1: 162,929,958	M82K	possibly damaging	Het
Gabrr2	T	G	4: 33,095,548	I479R	probably damaging	Het
Gm14409	C	A	2: 177,265,402	C101F	probably damaging	Het
Gnl2	T	A	4: 125,053,485	F633L	probably benign	Het
Greb1l	C	T	18: 10,511,422	S648F	probably damaging	Het
Gsap	T	A	5: 21,242,813	C290S	probably damaging	Het
Gusb	A	G	5: 129,999,447	V268A	probably benign	Het
H2-D1	G	A	17: 35,264,115		probably null	Het
Hebp2	T	A	10: 18,541,260	E164D	probably benign	Het
Higd1a	A	T	9: 121,850,247	I58N	probably damaging	Het
Hoxc13	G	T	15: 102,927,223	R262L	probably damaging	Het
Ifih1	A	G	2: 62,623,467	V218A	probably benign	Het
Impg2	T	A	16: 56,265,064	Y1045N	probably damaging	Het
Kcnk1	A	G	8: 125,995,656	E66G	probably damaging	Het
Klkb1	A	G	8: 45,275,504	V406A	possibly damaging	Het
Klra10	G	A	6: 130,279,278	R138W	probably damaging	Het
Lama2	A	C	10: 27,044,453	Y193*	probably null	Het
Larp7	T	C	3: 127,543,130	T428A	probably benign	Het
Lipg	T	C	18: 74,945,885	N432S	probably benign	Het
Loxl1	T	C	9: 58,293,712	D489G	probably damaging	Het
Lrguk	A	G	6: 34,092,902	K571E	probably benign	Het
Map3k13	C	T	16: 21,892,144	T59I	probably benign	Het
Mertk	T	A	2: 128,762,138	D397E	probably benign	Het
Mgat3	G	A	15: 80,211,886	V305I	probably benign	Het
Mkl2	T	C	16: 13,400,804	V449A	possibly damaging	Het
Mybpc1	G	A	10: 88,573,437	Q66*	probably null	Het
Myo3a	A	G	2: 22,578,174	D480G	probably benign	Het
Ndufaf3	C	T	9: 108,566,737	R31Q	probably benign	Het
Neb	T	C	2: 52,310,638	Y343C	probably damaging	Het
Nrxn3	A	G	12: 89,260,520		probably null	Het
Olfr1090	A	T	2: 86,754,452	N95K	probably benign	Het
Olfr1257	A	G	2: 89,881,638	M271V	probably benign	Het
Pcsk4	T	C	10: 80,323,879	M379V	probably benign	Het
Pdzd2	A	T	15: 12,373,590	V2153E	probably benign	Het
Pkd2l1	T	C	19: 44,154,500	D427G	possibly damaging	Het
Plcd4	A	G	1: 74,565,152	Y763C	probably damaging	Het
Plekhh1	T	C	12: 79,079,000	F1270S	probably damaging	Het
Pmfbp1	T	C	8: 109,520,273	V259A	probably damaging	Het
Ptprg	T	C	14: 12,179,283	S767P	possibly damaging	Het
Rabl3	T	G	16: 37,556,813		probably null	Het
Rffl	T	A	11: 82,818,438	H53L	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rtl1	C	T	12: 109,593,921	V495I	possibly damaging	Het
Scaf11	A	T	15: 96,419,315	D789E	possibly damaging	Het
Scn2a	T	A	2: 65,752,079	Y1590*	probably null	Het
Siglech	T	A	7: 55,771,686	F190I	probably benign	Het
Slc22a22	C	A	15: 57,254,240	A302S	probably damaging	Het
Slc46a3	T	A	5: 147,879,144	T458S	probably benign	Het
Spta1	G	T	1: 174,208,344	R1072L	possibly damaging	Het
Tbx5	A	G	5: 119,836,923	T4A	probably benign	Het
Tdrd5	T	C	1: 156,276,573	R528G	probably damaging	Het
Thumpd3	T	C	6: 113,066,788	V388A	probably benign	Het
Tmem131l	C	T	3: 83,942,751		probably null	Het
Ttf2	C	A	3: 100,948,193	Q895H	possibly damaging	Het
Ttn	A	T	2: 76,890,092		probably null	Het
Vmn2r13	A	G	5: 109,158,192	S507P	probably benign	Het
Vtn	A	G	11: 78,500,223	T210A	probably damaging	Het
Znhit2	A	G	19: 6,062,061	T279A	probably benign	Het

Other mutations in Tfip11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Tfip11	APN	5	112329503	missense	possibly damaging	0.51
IGL02627:Tfip11	APN	5	112329813	missense	possibly damaging	0.69
R0023:Tfip11	UTSW	5	112332009	missense	possibly damaging	0.47
R0254:Tfip11	UTSW	5	112335655	missense	probably benign	0.06
R0465:Tfip11	UTSW	5	112333264	missense	probably benign	0.32
R0569:Tfip11	UTSW	5	112328094	missense	probably damaging	1.00
R1411:Tfip11	UTSW	5	112333033	missense	probably benign	0.00
R1751:Tfip11	UTSW	5	112334432	missense	probably damaging	1.00
R1767:Tfip11	UTSW	5	112334432	missense	probably damaging	1.00
R1792:Tfip11	UTSW	5	112329397	missense	possibly damaging	0.95
R4781:Tfip11	UTSW	5	112333399	missense	probably damaging	0.99
R4975:Tfip11	UTSW	5	112335747	unclassified	probably benign
R5348:Tfip11	UTSW	5	112335668	missense	probably benign	0.01
R5385:Tfip11	UTSW	5	112331220	critical splice donor site	probably null
R5469:Tfip11	UTSW	5	112334325	nonsense	probably null
R6540:Tfip11	UTSW	5	112334397	splice site	probably null
R6810:Tfip11	UTSW	5	112333597	missense	probably benign	0.07
R7199:Tfip11	UTSW	5	112331178	missense	probably benign	0.16
R7342:Tfip11	UTSW	5	112327972	start codon destroyed	probably null	0.99
R7352:Tfip11	UTSW	5	112333268	missense	probably benign
R7921:Tfip11	UTSW	5	112335576	missense	probably benign	0.03
R8070:Tfip11	UTSW	5	112334930	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGGCCTCTTAAGTGCTTGTGAC -3'
(R):5'- CACTACAGGGCACATGAAGC -3'

Sequencing Primer
(F):5'- ACTCATGGGATTCACTGTGG -3'
(R):5'- CCTGTGGCCTAAATGTGCTAAAGC -3'

Posted On

2014-09-17