Mutagenetix > Incidental Mutation

Incidental Mutation 'R7099:Tigd2'

550698

Institutional Source

Beutler Lab

Gene Symbol

Tigd2

Ensembl Gene

ENSMUSG00000049232

Gene Name

tigger transposable element derived 2

Synonyms

3632410O17Rik

MMRRC Submission

045191-MU

Accession Numbers

Essential gene?

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

Stock #

R7099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59185855-59189018 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59187166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 11 (T11K)

Ref Sequence

ENSEMBL: ENSMUSP00000057223 (fasta)

Gene Model

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

AlphaFold

Q0VBL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000062626
AA Change: T11K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057223
Gene: ENSMUSG00000049232
AA Change: T11K

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	C	T	16: 64,591,151 (GRCm39)	A26T	probably benign	Het
Acly	T	C	11: 100,383,117 (GRCm39)		probably null	Het
Adam29	A	C	8: 56,324,439 (GRCm39)	L672V	probably benign	Het
Adgrf1	T	C	17: 43,621,493 (GRCm39)	S577P	probably benign	Het
Ankar	T	C	1: 72,682,452 (GRCm39)	K1371R	probably damaging	Het
Arid5b	T	C	10: 67,934,009 (GRCm39)	D631G	probably damaging	Het
Brpf3	T	C	17: 29,025,611 (GRCm39)	V228A	probably benign	Het
C3	T	C	17: 57,513,276 (GRCm39)	D1457G	probably benign	Het
Calr4	A	T	4: 109,099,426 (GRCm39)	N143I	probably benign	Het
Catsperd	T	G	17: 56,935,811 (GRCm39)		probably null	Het
Cobl	T	A	11: 12,246,540 (GRCm39)	H154L		Het
Cryzl2	G	A	1: 157,316,154 (GRCm39)		probably benign	Het
Dennd1c	A	G	17: 57,374,915 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,923,698 (GRCm39)	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,951,225 (GRCm39)	S218P	probably benign	Het
Fbxw27	G	T	9: 109,599,223 (GRCm39)	T398N	probably damaging	Het
Fhod3	A	G	18: 25,223,219 (GRCm39)	D855G	probably benign	Het
Flii	A	G	11: 60,611,481 (GRCm39)	V410A	probably benign	Het
Fsip2	C	A	2: 82,817,968 (GRCm39)	P4567Q	probably benign	Het
Fxyd1	T	G	7: 30,752,458 (GRCm39)	Q66H	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gramd2b	C	T	18: 56,625,017 (GRCm39)	T370I	probably benign	Het
Kdr	A	G	5: 76,104,993 (GRCm39)	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,658,115 (GRCm39)	G166D	probably damaging	Het
Lrrfip2	A	G	9: 111,002,176 (GRCm39)	R92G	probably benign	Het
Map1a	T	A	2: 121,130,998 (GRCm39)	S605T	probably benign	Het
Megf8	A	T	7: 25,045,945 (GRCm39)	D1496V	probably damaging	Het
Mgam	T	C	6: 40,638,650 (GRCm39)	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,539,195 (GRCm39)	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,474,506 (GRCm39)		probably null	Het
Ndst1	A	G	18: 60,828,572 (GRCm39)	F661L	possibly damaging	Het
Neu3	G	A	7: 99,463,027 (GRCm39)	T232M	possibly damaging	Het
Nf1	T	C	11: 79,461,156 (GRCm39)	S741P	probably benign	Het
Nr5a1	G	T	2: 38,584,148 (GRCm39)	L424M	probably damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or4d10c	A	G	19: 12,065,530 (GRCm39)	F209L	possibly damaging	Het
Or4k51	A	T	2: 111,585,421 (GRCm39)	T276S	probably benign	Het
Or6d12	T	A	6: 116,493,721 (GRCm39)	*328R	probably null	Het
Or8g33	G	A	9: 39,337,599 (GRCm39)	T256I	probably benign	Het
Otud7a	A	G	7: 63,407,203 (GRCm39)	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,832 (GRCm39)	L237S	probably damaging	Het
Pias1	A	G	9: 62,788,427 (GRCm39)	M79T		Het
Prom2	T	C	2: 127,381,698 (GRCm39)	E206G	probably benign	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Sdad1	A	G	5: 92,441,832 (GRCm39)	V365A	possibly damaging	Het
Sdk2	T	C	11: 113,725,731 (GRCm39)	T1173A	probably damaging	Het
Sidt1	A	G	16: 44,063,860 (GRCm39)	S803P	probably damaging	Het
Slc45a1	A	T	4: 150,714,030 (GRCm39)	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750 (GRCm38)	H53Q	probably damaging	Het
Spata22	T	C	11: 73,231,225 (GRCm39)	F160L	probably benign	Het
Stag1	G	A	9: 100,826,879 (GRCm39)	V949I	probably benign	Het
Syne1	T	C	10: 5,073,744 (GRCm39)	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,981,520 (GRCm39)	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,607,275 (GRCm39)	M226I	probably benign	Het
Tep1	T	C	14: 51,081,944 (GRCm39)		probably null	Het
Trappc9	A	G	15: 72,565,468 (GRCm39)	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,388,848 (GRCm39)	M455T	probably benign	Het
Usp42	A	T	5: 143,712,400 (GRCm39)	S95T	probably damaging	Het
Usp44	T	C	10: 93,686,049 (GRCm39)	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,320 (GRCm39)	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,675,540 (GRCm39)	I616N	probably damaging	Het
Zfp352	A	G	4: 90,113,117 (GRCm39)	K419R	probably benign	Het
Zfp595	T	A	13: 67,465,711 (GRCm39)	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,822,161 (GRCm39)	S301T	probably benign	Het
Zzef1	T	C	11: 72,763,475 (GRCm39)	V1374A	possibly 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
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
R7688:Tigd2	UTSW	6	59,187,382 (GRCm39)	missense	probably damaging	1.00
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'- AACAAGGGTTATCTGGAGCTATTC -3'
(R):5'- TTTACGCTTGGACACCCCAC -3'

Sequencing Primer
(F):5'- GAGCTATTCGTTGTCATAGGAACAG -3'
(R):5'- TTGGACACCCCACTAGTTGG -3'

Posted On

2019-05-15