Mutagenetix > Incidental Mutation

Incidental Mutation 'R1751:Tfip11'

193505

Institutional Source

Beutler Lab

Gene Symbol

Tfip11

Ensembl Gene

ENSMUSG00000029345

Gene Name

tuftelin interacting protein 11

Synonyms

Tip39

MMRRC Submission

039783-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112474235-112485939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112482298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 519 (W519R)

Ref Sequence

ENSEMBL: ENSMUSP00000031288 (fasta)

Gene Model

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

AlphaFold

Q9ERA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031288
AA Change: W519R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031288
Gene: ENSMUSG00000029345
AA Change: W519R

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: 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

Meta Mutation Damage Score

0.9506

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bank1	G	T	3: 135,940,375 (GRCm39)	R203S	probably benign	Het
Bank1	A	G	3: 135,960,698 (GRCm39)	V53A	probably benign	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cdc5l	A	T	17: 45,718,731 (GRCm39)	D628E	probably benign	Het
Chd3	G	A	11: 69,244,727 (GRCm39)		probably benign	Het
Clstn3	A	T	6: 124,408,958 (GRCm39)	W860R	probably damaging	Het
Cntn4	G	A	6: 106,595,371 (GRCm39)		probably null	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Cyp2b9	T	C	7: 25,886,100 (GRCm39)	V89A	probably benign	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gart	A	C	16: 91,439,837 (GRCm39)		probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gnas	T	A	2: 174,139,687 (GRCm39)		probably benign	Het
Greb1	A	G	12: 16,773,439 (GRCm39)		probably benign	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,725,773 (GRCm39)		probably benign	Het
Igf2r	A	C	17: 12,916,328 (GRCm39)	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,469 (GRCm39)	L1274P	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrp6	A	G	6: 134,441,531 (GRCm39)	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,820,884 (GRCm39)	T914S	probably benign	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12d17	A	T	17: 37,777,792 (GRCm39)	M232L	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pcp4	A	C	16: 96,326,689 (GRCm39)	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,240,348 (GRCm39)		probably benign	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Pik3c2a	A	C	7: 115,945,471 (GRCm39)	V1445G	probably damaging	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,685,677 (GRCm39)		probably benign	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rfx2	A	G	17: 57,091,754 (GRCm39)	V313A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Sbpl	A	G	17: 24,173,777 (GRCm39)		probably null	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Setbp1	T	C	18: 78,900,613 (GRCm39)	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,180,452 (GRCm39)	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Smarca2	T	C	19: 26,617,780 (GRCm39)		probably benign	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Stox1	T	C	10: 62,495,445 (GRCm39)	T943A	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Trpc7	T	A	13: 56,923,956 (GRCm39)	D743V	probably damaging	Het
Trrap	T	C	5: 144,751,385 (GRCm39)		probably null	Het
Tsc1	A	G	2: 28,566,038 (GRCm39)	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Tsr3	T	C	17: 25,461,613 (GRCm39)	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,682,786 (GRCm39)	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zfp108	C	A	7: 23,961,321 (GRCm39)	H637Q	probably damaging	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
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
R7342:Tfip11	UTSW	5	112,475,838 (GRCm39)	start codon destroyed	probably null	0.99
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'- AACTGTGAACTGAGGCTCCTGGTG -3'
(R):5'- GCACAGCTCAAGGTTCAATAAAGGC -3'

Sequencing Primer
(F):5'- AGACATCATGGCAGCCTCTG -3'
(R):5'- TTGAGAAAGGCCATGCCC -3'

Posted On

2014-05-23