Mutagenetix > Incidental Mutation

Incidental Mutation 'R1416:Tigd3'

159613

Institutional Source

Beutler Lab

Gene Symbol

Tigd3

Ensembl Gene

ENSMUSG00000044390

Gene Name

tigger transposable element derived 3

Synonyms

MMRRC Submission

039472-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R1416 (G1)

Quality Score

102

Status

Validated

Chromosome

Chromosomal Location

5941166-5944156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5941753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 459 (D459G)

Ref Sequence

ENSEMBL: ENSMUSP00000059302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055911] [ENSMUST00000136983]

AlphaFold

Q7TM95

Predicted Effect

probably benign
Transcript: ENSMUST00000055911
AA Change: D459G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059302
Gene: ENSMUSG00000044390
AA Change: D459G

Domain	Start	End	E-Value	Type
Pfam:CENP-B_N	6	59	2.5e-15	PFAM
CENPB	73	137	2.96e-7	SMART
Pfam:DDE_1	192	360	7.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136983

SMART Domains

Protein: ENSMUSP00000120125
Gene: ENSMUSG00000024826

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	12	85	6.2e-41	PFAM
low complexity region	159	175	N/A	INTRINSIC
low complexity region	178	196	N/A	INTRINSIC
ZnF_C2H2	209	232	4.47e-3	SMART
PHD	272	328	8.64e-9	SMART
RING	273	327	3.83e0	SMART
PHD	329	375	8.9e-11	SMART
RING	330	374	9.75e-1	SMART

Meta Mutation Damage Score

0.0737

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

94% (63/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	C	9: 103,950,822 (GRCm39)	S49P	probably damaging	Het
Afm	T	C	5: 90,674,238 (GRCm39)	I250T	possibly damaging	Het
Alox5	G	A	6: 116,400,106 (GRCm39)	Q278*	probably null	Het
Anxa7	G	A	14: 20,512,775 (GRCm39)	R253C	probably damaging	Het
Arfgef1	T	A	1: 10,243,164 (GRCm39)	T1059S	probably damaging	Het
Arpp21	T	C	9: 112,008,197 (GRCm39)	E101G	probably damaging	Het
Bcr	A	T	10: 74,897,338 (GRCm39)	I161F	possibly damaging	Het
Ccdc141	T	C	2: 76,845,140 (GRCm39)	E1309G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cep41	C	T	6: 30,657,356 (GRCm39)	S233N	probably damaging	Het
Col5a1	T	G	2: 27,812,076 (GRCm39)	S53A	unknown	Het
Cplane1	C	T	15: 8,276,422 (GRCm39)	Q2689*	probably null	Het
Efnb2	A	G	8: 8,672,329 (GRCm39)		probably null	Het
Epb41l5	T	C	1: 119,477,606 (GRCm39)		probably benign	Het
Eri2	A	G	7: 119,390,397 (GRCm39)	F77S	probably damaging	Het
Ern1	C	T	11: 106,312,806 (GRCm39)		probably benign	Het
Eya3	T	C	4: 132,434,440 (GRCm39)		probably benign	Het
Icos	T	C	1: 61,033,802 (GRCm39)	L144P	probably damaging	Het
Ipo8	A	G	6: 148,690,591 (GRCm39)	V717A	probably benign	Het
Lrp12	T	C	15: 39,742,019 (GRCm39)	E232G	probably damaging	Het
Lrp1b	A	G	2: 40,888,228 (GRCm39)	I2344T	probably damaging	Het
Mettl5	A	T	2: 69,701,633 (GRCm39)	F207I	possibly damaging	Het
Mtor	G	T	4: 148,575,871 (GRCm39)	E1342*	probably null	Het
Nrap	A	G	19: 56,315,725 (GRCm39)	Y1360H	possibly damaging	Het
Nsun7	T	C	5: 66,418,423 (GRCm39)	V51A	probably damaging	Het
Or5an11	C	A	19: 12,246,258 (GRCm39)	F221L	probably benign	Het
Or5p5	T	C	7: 107,414,469 (GRCm39)	L228P	probably damaging	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Or8k27	T	C	2: 86,275,664 (GRCm39)	I221V	probably benign	Het
Or9m1b	T	A	2: 87,836,915 (GRCm39)	Y60F	probably damaging	Het
Otud6b	A	C	4: 14,818,473 (GRCm39)	L143V	probably damaging	Het
Pabir2	T	C	X: 52,335,023 (GRCm39)	*256W	probably null	Het
Pp2d1	T	C	17: 53,822,835 (GRCm39)	N77S	probably benign	Het
Ppp4r3c2	A	T	X: 88,797,283 (GRCm39)	M372L	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Raly	G	T	2: 154,699,273 (GRCm39)	G26*	probably null	Het
Rarb	T	C	14: 16,435,177 (GRCm38)	M290V	possibly damaging	Het
Rusc2	A	G	4: 43,421,617 (GRCm39)	E679G	possibly damaging	Het
Scap	T	C	9: 110,213,841 (GRCm39)	V1268A	probably damaging	Het
Setd1b	C	T	5: 123,298,748 (GRCm39)		probably benign	Het
Shisa3	C	G	5: 67,768,777 (GRCm39)	P226A	probably benign	Het
Smox	C	T	2: 131,364,051 (GRCm39)	S481F	probably damaging	Het
Stard9	T	C	2: 120,531,453 (GRCm39)	V2570A	probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Sult4a1	C	T	15: 83,970,847 (GRCm39)	R186Q	probably benign	Het
Taf2	G	T	15: 54,901,806 (GRCm39)	A796E	possibly damaging	Het
Taf4b	T	C	18: 14,954,484 (GRCm39)		probably benign	Het
Thbs4	G	T	13: 92,898,041 (GRCm39)	Q593K	probably benign	Het
Tmem168	A	T	6: 13,591,400 (GRCm39)	L472Q	probably damaging	Het
Tmem169	G	T	1: 72,339,875 (GRCm39)	V102F	probably damaging	Het
Tmem241	T	C	18: 12,126,631 (GRCm39)	T274A	probably benign	Het
Trip10	A	G	17: 57,557,800 (GRCm39)	Y28C	probably damaging	Het
Ubp1	T	C	9: 113,799,239 (GRCm39)	V398A	probably benign	Het
Ubr3	A	G	2: 69,775,415 (GRCm39)	Y567C	probably damaging	Het
Uckl1	A	T	2: 181,211,362 (GRCm39)	M489K	possibly damaging	Het
Ush2a	C	T	1: 188,169,080 (GRCm39)	P1074S	probably damaging	Het
Vmn1r62	T	C	7: 5,678,904 (GRCm39)	V195A	probably damaging	Het
Vmn2r63	T	A	7: 42,577,339 (GRCm39)	I400L	probably benign	Het
Vmn2r67	T	A	7: 84,800,824 (GRCm39)	I371F	probably benign	Het
Wdr64	A	G	1: 175,633,568 (GRCm39)	T940A	probably benign	Het
Zfp105	A	T	9: 122,759,742 (GRCm39)	Y471F	probably damaging	Het
Zfp287	A	T	11: 62,605,166 (GRCm39)	H580Q	probably damaging	Het

Other mutations in Tigd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0456:Tigd3	UTSW	19	5,942,821 (GRCm39)	missense	probably damaging	1.00
R0699:Tigd3	UTSW	19	5,941,974 (GRCm39)	missense	probably benign
R3945:Tigd3	UTSW	19	5,942,461 (GRCm39)	missense	probably damaging	0.98
R5945:Tigd3	UTSW	19	5,941,894 (GRCm39)	missense	probably benign
R6253:Tigd3	UTSW	19	5,942,870 (GRCm39)	missense	probably damaging	1.00
R7189:Tigd3	UTSW	19	5,943,050 (GRCm39)	missense	probably benign	0.09
R7956:Tigd3	UTSW	19	5,942,594 (GRCm39)	missense	possibly damaging	0.88
R8976:Tigd3	UTSW	19	5,941,853 (GRCm39)	missense	probably benign	0.00
R8979:Tigd3	UTSW	19	5,941,853 (GRCm39)	missense	probably benign	0.00
R9506:Tigd3	UTSW	19	5,942,860 (GRCm39)	missense	probably damaging	1.00
R9702:Tigd3	UTSW	19	5,942,836 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTCCAGGGCCTAGAAGCTACAC -3'
(R):5'- GCTGAGCCAAGAGGAGTTTTCTCAC -3'

Sequencing Primer
(F):5'- GGCCTGAACAACTTTTACTCTGAC -3'
(R):5'- CTCACTTTGTGGACCTGGAG -3'

Posted On

2014-03-14