Mutagenetix > Incidental Mutation

Incidental Mutation 'R0456:Tigd3'

40059

Institutional Source

Beutler Lab

Gene Symbol

Tigd3

Ensembl Gene

ENSMUSG00000044390

Gene Name

tigger transposable element derived 3

Synonyms

MMRRC Submission

038656-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R0456 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

5941166-5944156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5942821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 103 (L103P)

Ref Sequence

ENSEMBL: ENSMUSP00000059302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055911] [ENSMUST00000118623] [ENSMUST00000136983]

AlphaFold

Q7TM95

Predicted Effect

probably benign
Transcript: ENSMUST00000025746

SMART Domains

Protein: ENSMUSP00000025746
Gene: ENSMUSG00000024826

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	1	40	1.4e-19	PFAM
low complexity region	115	131	N/A	INTRINSIC
low complexity region	134	152	N/A	INTRINSIC
ZnF_C2H2	165	188	4.47e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000055911
AA Change: L103P

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

SMART Domains

Protein: ENSMUSP00000059302
Gene: ENSMUSG00000044390
AA Change: L103P

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: ENSMUST00000118623

SMART Domains

Protein: ENSMUSP00000113465
Gene: ENSMUSG00000024826

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	13	84	7.9e-40	PFAM
low complexity region	159	175	N/A	INTRINSIC
low complexity region	178	196	N/A	INTRINSIC
PDB:3IUF\|A	203	263	1e-21	PDB
PHD	286	342	8.64e-9	SMART
RING	287	341	3.83e0	SMART
PHD	343	389	8.9e-11	SMART
RING	344	388	9.75e-1	SMART

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,429,036 (GRCm39)	P11L	probably damaging	Het
Antxr1	A	C	6: 87,194,257 (GRCm39)	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,051,492 (GRCm39)	N1127D	probably benign	Het
Bivm	T	A	1: 44,165,969 (GRCm39)	W140R	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,494,776 (GRCm39)	V928A	possibly damaging	Het
Chia1	T	C	3: 106,035,795 (GRCm39)	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,309,550 (GRCm39)	I268F	probably damaging	Het
CK137956	A	T	4: 127,839,100 (GRCm39)	N439K	probably damaging	Het
Csf3r	C	A	4: 125,929,654 (GRCm39)	N392K	probably damaging	Het
Cyp1b1	T	C	17: 80,017,704 (GRCm39)	I484V	probably benign	Het
Dsc1	T	C	18: 20,232,169 (GRCm39)	K280E	probably damaging	Het
Eefsec	A	G	6: 88,274,870 (GRCm39)	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843 (GRCm39)		probably null	Het
Erap1	G	A	13: 74,812,339 (GRCm39)	V385I	probably benign	Het
Fat1	A	T	8: 45,482,571 (GRCm39)	I3077F	probably damaging	Het
Fras1	T	G	5: 96,862,202 (GRCm39)		probably null	Het
Fras1	G	T	5: 96,702,647 (GRCm39)	G230C	probably damaging	Het
Gsg1l	A	G	7: 125,522,682 (GRCm39)	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,395,779 (GRCm39)	V60A	probably damaging	Het
H4c6	T	C	13: 23,735,561 (GRCm39)	D86G	probably damaging	Het
Hapln4	A	T	8: 70,537,645 (GRCm39)	Y113F	probably benign	Het
Ikzf4	T	A	10: 128,471,677 (GRCm39)	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,774,885 (GRCm39)	H302L	probably damaging	Het
Klhl41	T	C	2: 69,500,893 (GRCm39)	V118A	probably damaging	Het
Kpna1	T	C	16: 35,823,270 (GRCm39)	S41P	possibly damaging	Het
Krt23	A	G	11: 99,377,604 (GRCm39)	V134A	probably benign	Het
Lamb1	G	A	12: 31,354,729 (GRCm39)	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,639,094 (GRCm39)	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,103 (GRCm39)	S171P	probably damaging	Het
Lvrn	G	A	18: 46,997,883 (GRCm39)		probably null	Het
Matr3	T	A	18: 35,705,917 (GRCm39)	F281I	probably damaging	Het
Meak7	A	T	8: 120,495,162 (GRCm39)	F199I	probably damaging	Het
Nxn	G	A	11: 76,153,963 (GRCm39)	Q291*	probably null	Het
Or5b113	A	G	19: 13,342,102 (GRCm39)	T37A	probably damaging	Het
Pdp2	G	T	8: 105,320,421 (GRCm39)	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,291 (GRCm39)	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,489,013 (GRCm39)	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,218,861 (GRCm39)		probably null	Het
Ptpro	G	T	6: 137,391,228 (GRCm39)	V783L	probably benign	Het
Rab40c	A	G	17: 26,103,631 (GRCm39)	V144A	possibly damaging	Het
Rasal2	T	C	1: 156,977,413 (GRCm39)	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,570,988 (GRCm39)	S103C	possibly damaging	Het
Rgl2	A	G	17: 34,155,823 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rit2	A	T	18: 31,108,504 (GRCm39)	F160L	probably benign	Het
Rnh1	A	G	7: 140,742,461 (GRCm39)	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,682,292 (GRCm39)	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,986,288 (GRCm39)	I505F	probably benign	Het
Sorcs3	A	T	19: 48,642,483 (GRCm39)	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,726,493 (GRCm39)	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Syne1	T	C	10: 5,292,252 (GRCm39)	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,780,354 (GRCm39)	N164S	probably benign	Het
Tmem132b	T	C	5: 125,864,788 (GRCm39)	S965P	probably damaging	Het
Tmem82	T	C	4: 141,344,701 (GRCm39)	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618 (GRCm39)	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,348,982 (GRCm39)	E198G	probably benign	Het
Tnpo2	A	G	8: 85,781,045 (GRCm39)	N767S	probably damaging	Het
Trf	T	C	9: 103,104,102 (GRCm39)	Y87C	probably damaging	Het
Tst	A	G	15: 78,289,780 (GRCm39)	V85A	probably damaging	Het
Usp37	A	T	1: 74,507,507 (GRCm39)	N503K	probably damaging	Het
Utp20	C	T	10: 88,590,435 (GRCm39)	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,688,388 (GRCm39)	D37G	probably benign	Het
Vmn1r77	T	A	7: 11,775,665 (GRCm39)	L79*	probably null	Het
Zbtb3	A	T	19: 8,780,564 (GRCm39)	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,458,602 (GRCm39)	F182S	probably benign	Het
Zfp426	A	G	9: 20,381,593 (GRCm39)	F465L	probably damaging	Het
Zfp526	A	G	7: 24,925,637 (GRCm39)	E632G	probably damaging	Het

Other mutations in Tigd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0699:Tigd3	UTSW	19	5,941,974 (GRCm39)	missense	probably benign
R1416:Tigd3	UTSW	19	5,941,753 (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'- CGCGATACAACAAGGGTACTTCAGC -3'
(R):5'- TCTAAGATGTCCCAGTCAGAGGTGG -3'

Sequencing Primer
(F):5'- GCCAAAAACATCTTCTGGTGAG -3'
(R):5'- CGCTTCCAGGTCTCACAG -3'

Posted On

2013-05-23