Mutagenetix > Incidental Mutation

Incidental Mutation 'R5248:Tigd2'

398648

Institutional Source

Beutler Lab

Gene Symbol

Tigd2

Ensembl Gene

ENSMUSG00000049232

Gene Name

tigger transposable element derived 2

Synonyms

3632410O17Rik

MMRRC Submission

042819-MU

Accession Numbers

Essential gene?

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

Stock #

R5248 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59185855-59189018 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59188138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 335 (K335I)

Ref Sequence

ENSEMBL: ENSMUSP00000057223 (fasta)

Gene Model

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

AlphaFold

Q0VBL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000062626
AA Change: K335I

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

SMART Domains

Protein: ENSMUSP00000057223
Gene: ENSMUSG00000049232
AA Change: K335I

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,109,437 (GRCm39)	E344D	probably benign	Het
Acoxl	G	A	2: 127,917,855 (GRCm39)		probably null	Het
Adora1	A	T	1: 134,131,224 (GRCm39)	L149Q	possibly damaging	Het
Aebp1	C	A	11: 5,818,501 (GRCm39)	D115E	possibly damaging	Het
Ank3	A	G	10: 69,822,938 (GRCm39)	I1819V	probably benign	Het
Ankrd44	T	C	1: 54,706,539 (GRCm39)	H454R	probably damaging	Het
Ap4e1	C	T	2: 126,906,842 (GRCm39)	A1034V	possibly damaging	Het
B3galt2	T	A	1: 143,522,849 (GRCm39)	F328L	probably benign	Het
Bbip1	G	A	19: 53,919,786 (GRCm39)		probably benign	Het
Brsk1	G	A	7: 4,711,865 (GRCm39)	E572K	possibly damaging	Het
Clca3a1	G	T	3: 144,442,897 (GRCm39)	P716T	possibly damaging	Het
Clpx	T	C	9: 65,228,132 (GRCm39)	V380A	probably damaging	Het
Epha3	T	A	16: 63,418,620 (GRCm39)	Q608H	probably damaging	Het
Gprc6a	G	T	10: 51,491,089 (GRCm39)	P712T	probably damaging	Het
Itpr1	C	A	6: 108,519,023 (GRCm39)	Q2720K	probably damaging	Het
Kdm5b	A	G	1: 134,548,735 (GRCm39)	E1080G	probably benign	Het
Macf1	G	A	4: 123,295,567 (GRCm39)	R3163*	probably null	Het
Map4k5	T	C	12: 69,888,755 (GRCm39)	D292G	probably benign	Het
Mau2	A	T	8: 70,481,373 (GRCm39)	C217S	probably benign	Het
Mtf1	T	C	4: 124,714,220 (GRCm39)	F210L	probably damaging	Het
Mtif2	G	A	11: 29,486,889 (GRCm39)	V300M	probably damaging	Het
Mtmr2	T	C	9: 13,694,905 (GRCm39)		probably benign	Het
Mybpc3	C	A	2: 90,955,573 (GRCm39)		probably null	Het
Ncmap	T	C	4: 135,107,430 (GRCm39)		probably null	Het
Nek9	A	G	12: 85,355,751 (GRCm39)	F672S	probably damaging	Het
Nuak1	A	T	10: 84,245,542 (GRCm39)	I101N	probably damaging	Het
Or8s16	T	C	15: 98,211,311 (GRCm39)	N40S	probably damaging	Het
Pcdh7	T	A	5: 58,286,515 (GRCm39)	M1197K	probably damaging	Het
Pcdhb17	A	C	18: 37,618,939 (GRCm39)	Q243P	probably benign	Het
Pcf11	T	G	7: 92,310,699 (GRCm39)	K221Q	probably damaging	Het
Pkhd1	C	T	1: 20,604,769 (GRCm39)	R1182H	probably benign	Het
Ptprz1	C	A	6: 23,001,900 (GRCm39)	P1330Q	probably benign	Het
Rbm33	T	G	5: 28,542,050 (GRCm39)		probably null	Het
Rhobtb1	A	G	10: 69,084,615 (GRCm39)	D2G	probably damaging	Het
Rngtt	T	A	4: 33,325,110 (GRCm39)	C110*	probably null	Het
Setx	T	A	2: 29,038,430 (GRCm39)	N1638K	probably benign	Het
Slc24a3	A	T	2: 145,446,437 (GRCm39)	M282L	probably benign	Het
Slc7a1	A	T	5: 148,270,798 (GRCm39)	V556D	possibly damaging	Het
Sppl2c	A	T	11: 104,077,407 (GRCm39)	D69V	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Tas2r120	A	T	6: 132,634,110 (GRCm39)	N64I	probably damaging	Het
Tcf25	G	T	8: 124,100,678 (GRCm39)	A23S	probably damaging	Het
Tlr6	A	G	5: 65,112,647 (GRCm39)	S87P	probably benign	Het
Tmem135	T	A	7: 88,797,200 (GRCm39)	Y352F	probably damaging	Het
Tob2	T	C	15: 81,735,918 (GRCm39)	Y17C	probably damaging	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Vmn1r179	T	C	7: 23,628,478 (GRCm39)	V223A	probably damaging	Het
Zfp946	T	C	17: 22,673,447 (GRCm39)	V67A	probably benign	Het
Zswim4	G	T	8: 84,946,561 (GRCm39)	N698K	probably benign	Het
Zzz3	A	G	3: 152,133,182 (GRCm39)	Q80R	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
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
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'- GGTATTCCAAAGGCTGCAGG -3'
(R):5'- TCCTCATTGCCAGGGAAAAG -3'

Sequencing Primer
(F):5'- TGTGCAAATGCCACAGGTTC -3'
(R):5'- CTTATCTGGTTCCAGGCT -3'

Posted On

2016-07-06