Mutagenetix > Incidental Mutation

Incidental Mutation 'R7342:Tfip11'

569927

Institutional Source

Beutler Lab

Gene Symbol

Tfip11

Ensembl Gene

ENSMUSG00000029345

Gene Name

tuftelin interacting protein 11

Synonyms

Tip39

MMRRC Submission

045432-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7342 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112474235-112485939 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 112475838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000031288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031288] [ENSMUST00000129528] [ENSMUST00000198238]

AlphaFold

Q9ERA6

Predicted Effect

probably null
Transcript: ENSMUST00000031288
AA Change: M1K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031288
Gene: ENSMUSG00000029345
AA Change: M1K

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 null
Transcript: ENSMUST00000129528
AA Change: M1K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115225
Gene: ENSMUSG00000029345
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:TIP_N	15	70	9.1e-23	PFAM

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	G	11: 101,308,018 (GRCm39)	T28P	probably benign	Het
Abcc1	C	A	16: 14,283,033 (GRCm39)	R1170S	probably damaging	Het
Adam8	T	C	7: 139,566,304 (GRCm39)	N568S	probably benign	Het
Arhgap17	T	C	7: 122,926,467 (GRCm39)	R65G	probably damaging	Het
Arid4b	A	C	13: 14,310,804 (GRCm39)	I136L	probably benign	Het
Ash1l	G	T	3: 88,873,304 (GRCm39)	G29V	possibly damaging	Het
Atp6v0a2	A	G	5: 124,784,676 (GRCm39)	T320A	probably damaging	Het
B4gat1	G	A	19: 5,089,686 (GRCm39)	V228M	probably benign	Het
Calcr	T	A	6: 3,691,536 (GRCm39)	H450L	probably benign	Het
Cand1	A	T	10: 119,047,692 (GRCm39)	N599K	possibly damaging	Het
Cblif	A	T	19: 11,740,587 (GRCm39)	H407L	probably benign	Het
Cel	A	T	2: 28,450,649 (GRCm39)	Y125*	probably null	Het
Cfi	T	A	3: 129,668,781 (GRCm39)	N602K	probably damaging	Het
Clstn1	G	A	4: 149,713,887 (GRCm39)	A190T	probably damaging	Het
Cmklr1	C	T	5: 113,752,354 (GRCm39)	V216M	probably benign	Het
Cntnap5a	A	G	1: 115,987,852 (GRCm39)	T128A	probably benign	Het
Creld2	A	G	15: 88,710,610 (GRCm39)	T342A	probably benign	Het
Ctbp2	T	C	7: 132,616,041 (GRCm39)	E298G	probably damaging	Het
Ctsh	A	T	9: 89,957,040 (GRCm39)	E307V	probably benign	Het
Cxcl10	T	A	5: 92,496,029 (GRCm39)	D36V	probably benign	Het
Dgkb	A	G	12: 38,150,432 (GRCm39)	T73A	probably benign	Het
Dnah3	T	G	7: 119,629,208 (GRCm39)	E1449A	probably damaging	Het
Dpp6	T	C	5: 27,919,552 (GRCm39)	M683T	probably benign	Het
Foxn4	C	A	5: 114,396,760 (GRCm39)	W241L	probably damaging	Het
Gosr1	T	C	11: 76,621,033 (GRCm39)	I219V	probably benign	Het
Gtf2f2	T	C	14: 76,144,317 (GRCm39)	D179G	probably damaging	Het
Ighg2b	A	G	12: 113,270,050 (GRCm39)	Y323H		Het
Itpr2	A	T	6: 146,228,685 (GRCm39)	H1303Q	probably damaging	Het
Kif1b	A	C	4: 149,298,547 (GRCm39)	Y1040D	possibly damaging	Het
Lbr	C	T	1: 181,653,186 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,309,634 (GRCm39)	V2755A	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Lrrcc1	T	A	3: 14,619,431 (GRCm39)	C606S	probably benign	Het
Macf1	T	C	4: 123,275,917 (GRCm39)	E6217G	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo9b	T	C	8: 71,808,418 (GRCm39)	V1687A	probably damaging	Het
Naip2	A	T	13: 100,325,864 (GRCm39)	F15I	probably benign	Het
Neb	A	T	2: 52,171,679 (GRCm39)	S1605T	probably damaging	Het
Nuak1	T	C	10: 84,210,831 (GRCm39)	E419G	probably damaging	Het
Or14a260	G	A	7: 85,985,295 (GRCm39)	T103I	probably benign	Het
Or8c18	A	G	9: 38,203,574 (GRCm39)	Y111C	probably damaging	Het
Paip2b	T	A	6: 83,791,808 (GRCm39)	S25C	probably damaging	Het
Pgbd5	G	A	8: 125,160,709 (GRCm39)	R53C	probably benign	Het
Plin4	T	C	17: 56,411,608 (GRCm39)	T808A	probably benign	Het
Pramel11	A	T	4: 143,623,520 (GRCm39)	I218K	probably benign	Het
Prex2	A	G	1: 11,232,549 (GRCm39)	D872G	probably benign	Het
Ptf1a	A	G	2: 19,451,977 (GRCm39)	*325W	probably null	Het
Ptprg	T	C	14: 12,237,151 (GRCm38)	V1390A	possibly damaging	Het
Rhpn2	A	G	7: 35,033,771 (GRCm39)	T2A	probably damaging	Het
Rpl18a	T	C	8: 71,348,042 (GRCm39)	N214D	unknown	Het
Scp2	T	A	4: 107,948,518 (GRCm39)	Y197F	probably benign	Het
Sftpb	G	A	6: 72,286,858 (GRCm39)	R254H	probably benign	Het
Slc17a9	T	C	2: 180,378,555 (GRCm39)	L246P	probably damaging	Het
Slc38a9	G	T	13: 112,806,125 (GRCm39)		probably benign	Het
Slc4a1ap	C	T	5: 31,693,634 (GRCm39)	L523F	possibly damaging	Het
Spats2l	C	A	1: 57,925,106 (GRCm39)	T168K	possibly damaging	Het
Sstr1	A	G	12: 58,260,456 (GRCm39)	S360G	possibly damaging	Het
Taf1b	A	T	12: 24,608,343 (GRCm39)	K581*	probably null	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Ttc23l	G	A	15: 10,551,583 (GRCm39)	H48Y	probably benign	Het
Uggt2	T	A	14: 119,232,384 (GRCm39)	H1489L	possibly damaging	Het
Unc13b	T	C	4: 43,258,703 (GRCm39)	L1346P	probably damaging	Het
Vmac	T	C	17: 57,022,644 (GRCm39)	E122G	probably benign	Het
Vmn2r125	T	C	4: 156,703,138 (GRCm39)	V172A	probably damaging	Het
Zfp54	A	G	17: 21,648,014 (GRCm39)		probably benign	Het

Other mutations in Tfip11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Tfip11	APN	5	112,477,369 (GRCm39)	missense	possibly damaging	0.51
IGL02627:Tfip11	APN	5	112,477,679 (GRCm39)	missense	possibly damaging	0.69
R0023:Tfip11	UTSW	5	112,479,875 (GRCm39)	missense	possibly damaging	0.47
R0254:Tfip11	UTSW	5	112,483,521 (GRCm39)	missense	probably benign	0.06
R0465:Tfip11	UTSW	5	112,481,130 (GRCm39)	missense	probably benign	0.32
R0569:Tfip11	UTSW	5	112,475,960 (GRCm39)	missense	probably damaging	1.00
R1411:Tfip11	UTSW	5	112,480,899 (GRCm39)	missense	probably benign	0.00
R1751:Tfip11	UTSW	5	112,482,298 (GRCm39)	missense	probably damaging	1.00
R1767:Tfip11	UTSW	5	112,482,298 (GRCm39)	missense	probably damaging	1.00
R1792:Tfip11	UTSW	5	112,477,263 (GRCm39)	missense	possibly damaging	0.95
R2125:Tfip11	UTSW	5	112,483,529 (GRCm39)	missense	possibly damaging	0.46
R4781:Tfip11	UTSW	5	112,481,265 (GRCm39)	missense	probably damaging	0.99
R4975:Tfip11	UTSW	5	112,483,613 (GRCm39)	unclassified	probably benign
R5348:Tfip11	UTSW	5	112,483,534 (GRCm39)	missense	probably benign	0.01
R5385:Tfip11	UTSW	5	112,479,086 (GRCm39)	critical splice donor site	probably null
R5469:Tfip11	UTSW	5	112,482,191 (GRCm39)	nonsense	probably null
R6540:Tfip11	UTSW	5	112,482,263 (GRCm39)	splice site	probably null
R6810:Tfip11	UTSW	5	112,481,463 (GRCm39)	missense	probably benign	0.07
R7199:Tfip11	UTSW	5	112,479,044 (GRCm39)	missense	probably benign	0.16
R7352:Tfip11	UTSW	5	112,481,134 (GRCm39)	missense	probably benign
R7921:Tfip11	UTSW	5	112,483,442 (GRCm39)	missense	probably benign	0.03
R8070:Tfip11	UTSW	5	112,482,796 (GRCm39)	missense	possibly damaging	0.94
R8987:Tfip11	UTSW	5	112,484,921 (GRCm39)	missense	possibly damaging	0.49
R9038:Tfip11	UTSW	5	112,481,214 (GRCm39)	missense	possibly damaging	0.69
R9567:Tfip11	UTSW	5	112,479,029 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGGGTCTGACTTGTCTCAC -3'
(R):5'- CCAGCACACAGTACCTTTTGC -3'

Sequencing Primer
(F):5'- GACTTGTCTCACTTGTCACGGAG -3'
(R):5'- TTTGCCTCCAAAGCTGGG -3'

Posted On

2019-09-13