Mutagenetix > Incidental Mutation

Incidental Mutation 'R7688:Tigd2'

593202

Institutional Source

Beutler Lab

Gene Symbol

Tigd2

Ensembl Gene

ENSMUSG00000049232

Gene Name

tigger transposable element derived 2

Synonyms

3632410O17Rik

MMRRC Submission

045752-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R7688 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59185855-59189018 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59187382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 83 (M83K)

Ref Sequence

ENSEMBL: ENSMUSP00000057223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062626]

AlphaFold

Q0VBL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000062626
AA Change: M83K

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

SMART Domains

Protein: ENSMUSP00000057223
Gene: ENSMUSG00000049232
AA Change: M83K

Domain	Start	End	E-Value	Type
Pfam:CENP-B_N	4	54	6e-17	PFAM
CENPB	73	139	5.78e-19	SMART
Pfam:DDE_1	206	385	2.2e-52	PFAM
low complexity region	504	519	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bag6	T	C	17: 35,365,868 (GRCm39)	Y1102H	probably damaging	Het
Cldn24	G	A	8: 48,275,740 (GRCm39)	C188Y	probably damaging	Het
Dennd4c	T	C	4: 86,713,377 (GRCm39)	W443R	probably damaging	Het
Dmxl1	T	A	18: 50,088,938 (GRCm39)	C2806S	probably benign	Het
Epb41l2	T	C	10: 25,355,036 (GRCm39)	Y449H	probably damaging	Het
Ets1	T	A	9: 32,607,720 (GRCm39)	I14N	probably benign	Het
F11	A	T	8: 45,703,127 (GRCm39)	F188I	probably damaging	Het
Fam13a	C	T	6: 58,912,692 (GRCm39)	V654I	probably benign	Het
Flt1	C	T	5: 147,613,135 (GRCm39)	V369I	probably benign	Het
Focad	T	A	4: 88,096,370 (GRCm39)	Y251N	probably damaging	Het
Gm5150	A	G	3: 16,017,747 (GRCm39)	S175P	probably benign	Het
Hnrnpul2	T	A	19: 8,797,994 (GRCm39)	S117T	probably benign	Het
Kcnj5	A	G	9: 32,234,264 (GRCm39)	V17A	probably benign	Het
Kctd1	T	G	18: 15,107,255 (GRCm39)	T737P	probably benign	Het
Kif14	T	C	1: 136,422,392 (GRCm39)	V894A	probably damaging	Het
Klhl12	A	T	1: 134,416,768 (GRCm39)	T497S	probably benign	Het
Klhl6	C	A	16: 19,765,881 (GRCm39)	V574L	probably damaging	Het
Lama1	A	T	17: 68,068,623 (GRCm39)	D774V		Het
Leng1	G	A	7: 3,665,809 (GRCm39)	P176L	probably benign	Het
Lig1	T	C	7: 13,023,389 (GRCm39)	L196P	probably benign	Het
Macrod1	C	A	19: 7,174,230 (GRCm39)	Y245*	probably null	Het
Mcf2l	T	A	8: 12,998,130 (GRCm39)	I6N	possibly damaging	Het
Megf11	A	G	9: 64,599,146 (GRCm39)	D687G	possibly damaging	Het
Muc4	A	T	16: 32,570,278 (GRCm39)	H446L	possibly damaging	Het
Oasl2	A	T	5: 115,035,909 (GRCm39)	I62F	probably benign	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or14a257	A	G	7: 86,138,183 (GRCm39)	V192A	probably benign	Het
Or4b12	A	T	2: 90,095,959 (GRCm39)	F272I	probably damaging	Het
Or52e8	C	A	7: 104,624,332 (GRCm39)	A291S	possibly damaging	Het
Pdcl2	T	C	5: 76,465,770 (GRCm39)	N150S	probably benign	Het
Pfkfb3	A	G	2: 11,497,450 (GRCm39)	Y54H	probably damaging	Het
Rab25	A	T	3: 88,452,270 (GRCm39)		probably null	Het
Slc22a18	G	A	7: 143,033,560 (GRCm39)	G104S	probably damaging	Het
Slc44a5	T	A	3: 153,679,437 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,757,561 (GRCm39)	Y517C	probably damaging	Het
Spata18	A	G	5: 73,809,005 (GRCm39)	N26S	probably benign	Het
Tas2r115	T	A	6: 132,714,643 (GRCm39)	S103C	probably damaging	Het
Tnxb	T	A	17: 34,890,880 (GRCm39)	C408S	probably benign	Het
Trbj2-3	T	A	6: 41,520,159 (GRCm39)	S1R	possibly damaging	Het
Triobp	T	C	15: 78,845,311 (GRCm39)		probably null	Het
Uaca	A	G	9: 60,781,409 (GRCm39)	Q1349R	probably benign	Het
Ube2j2	T	A	4: 156,040,885 (GRCm39)	L171I	probably damaging	Het
Usp17ld	C	A	7: 102,899,982 (GRCm39)	G317W	probably damaging	Het
Vinac1	G	A	2: 128,880,964 (GRCm39)	Q321*	probably null	Het
Vmn2r72	T	A	7: 85,404,098 (GRCm39)	D31V	probably benign	Het
Zfp317	T	G	9: 19,559,251 (GRCm39)	H488Q	probably damaging	Het

Other mutations in Tigd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02304:Tigd2	APN	6	59,188,683 (GRCm39)	nonsense	probably null
IGL03356:Tigd2	APN	6	59,188,690 (GRCm39)	missense	probably benign	0.04
PIT1430001:Tigd2	UTSW	6	59,188,233 (GRCm39)	missense	probably damaging	1.00
R0048:Tigd2	UTSW	6	59,188,369 (GRCm39)	missense	possibly damaging	0.86
R0387:Tigd2	UTSW	6	59,188,143 (GRCm39)	missense	probably benign	0.00
R0523:Tigd2	UTSW	6	59,187,358 (GRCm39)	missense	probably benign	0.30
R0636:Tigd2	UTSW	6	59,188,272 (GRCm39)	missense	possibly damaging	0.66
R1171:Tigd2	UTSW	6	59,188,361 (GRCm39)	missense	possibly damaging	0.73
R2440:Tigd2	UTSW	6	59,186,980 (GRCm39)	start gained	probably benign
R4327:Tigd2	UTSW	6	59,187,562 (GRCm39)	missense	probably benign	0.36
R4731:Tigd2	UTSW	6	59,188,400 (GRCm39)	missense	probably benign	0.00
R4732:Tigd2	UTSW	6	59,188,400 (GRCm39)	missense	probably benign	0.00
R4733:Tigd2	UTSW	6	59,188,400 (GRCm39)	missense	probably benign	0.00
R5005:Tigd2	UTSW	6	59,188,131 (GRCm39)	missense	probably benign	0.06
R5028:Tigd2	UTSW	6	59,188,205 (GRCm39)	nonsense	probably null
R5248:Tigd2	UTSW	6	59,188,138 (GRCm39)	missense	probably damaging	1.00
R6006:Tigd2	UTSW	6	59,187,762 (GRCm39)	missense	possibly damaging	0.45
R7099:Tigd2	UTSW	6	59,187,166 (GRCm39)	missense	probably damaging	1.00
R7261:Tigd2	UTSW	6	59,188,052 (GRCm39)	missense	probably benign	0.02
R7553:Tigd2	UTSW	6	59,188,564 (GRCm39)	missense	probably benign	0.04
R8002:Tigd2	UTSW	6	59,187,494 (GRCm39)	missense	probably damaging	1.00
R8734:Tigd2	UTSW	6	59,187,184 (GRCm39)	missense	probably damaging	1.00
R9007:Tigd2	UTSW	6	59,187,887 (GRCm39)	missense	probably damaging	1.00
R9095:Tigd2	UTSW	6	59,187,509 (GRCm39)	nonsense	probably null
R9143:Tigd2	UTSW	6	59,188,310 (GRCm39)	missense	probably benign	0.10
Z1177:Tigd2	UTSW	6	59,188,515 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAAACGTGTGGTCCTGACAATTAAAG -3'
(R):5'- AGCCTTTGGAATACCGTGGC -3'

Sequencing Primer
(F):5'- GTGGTCCTGACAATTAAAGACAAAC -3'
(R):5'- TGGCGCTGCTTAAACCTAGTAAG -3'

Posted On

2019-11-12