Mutagenetix > Incidental Mutation

Incidental Mutation 'R4327:Tigd2'

324414

Institutional Source

Beutler Lab

Gene Symbol

Tigd2

Ensembl Gene

ENSMUSG00000049232

Gene Name

tigger transposable element derived 2

Synonyms

3632410O17Rik

MMRRC Submission

041097-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R4327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59185855-59189018 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59187562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 143 (T143K)

Ref Sequence

ENSEMBL: ENSMUSP00000057223 (fasta)

Gene Model

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

AlphaFold

Q0VBL1

Predicted Effect

probably benign
Transcript: ENSMUST00000062626
AA Change: T143K

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057223
Gene: ENSMUSG00000049232
AA Change: T143K

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

Meta Mutation Damage Score

0.1622

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (64/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,221,664 (GRCm39)	D55G	possibly damaging	Het
Alcam	T	C	16: 52,073,579 (GRCm39)	N549S	possibly damaging	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Arhgef12	C	A	9: 42,886,525 (GRCm39)	E1152*	probably null	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atp1a3	A	G	7: 24,687,056 (GRCm39)		probably benign	Het
Bcl2l1	A	G	2: 152,624,099 (GRCm39)	V223A	probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Cela3b	G	T	4: 137,151,242 (GRCm39)	A137E	probably benign	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Col16a1	T	C	4: 129,988,344 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,299 (GRCm39)		probably benign	Het
Cyp2j8	T	A	4: 96,395,566 (GRCm39)	T20S	probably benign	Het
Fastkd2	A	G	1: 63,791,516 (GRCm39)	K675E	probably benign	Het
Fsip2	A	T	2: 82,817,403 (GRCm39)	I4379F	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Hmgxb3	A	T	18: 61,300,611 (GRCm39)	M155K	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kcnn1	A	T	8: 71,305,307 (GRCm39)	V301E	probably damaging	Het
Kcnq4	T	C	4: 120,568,561 (GRCm39)	E385G	probably benign	Het
Klhl28	G	A	12: 64,996,952 (GRCm39)	A463V	probably damaging	Het
Lhb	A	G	7: 45,070,383 (GRCm39)	R3G	possibly damaging	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Macf1	C	T	4: 123,276,005 (GRCm39)	A4176T	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Med12l	T	C	3: 59,172,688 (GRCm39)	S1813P	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Muc2	A	C	7: 141,281,577 (GRCm39)	S479R	probably damaging	Het
Or11g27	T	A	14: 50,770,971 (GRCm39)	I34N	probably benign	Het
Or12e10	G	T	2: 87,640,496 (GRCm39)	V111L	probably benign	Het
Or2t1	T	A	14: 14,328,193 (GRCm38)	F27L	probably damaging	Het
Or52n1	G	A	7: 104,382,833 (GRCm39)	T246I	probably damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pex26	A	T	6: 121,164,373 (GRCm39)	E172V	probably damaging	Het
Pitrm1	A	G	13: 6,629,809 (GRCm39)		probably benign	Het
Ptprs	C	A	17: 56,754,468 (GRCm39)	A191S	possibly damaging	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Scn7a	A	G	2: 66,567,815 (GRCm39)	F260L	probably damaging	Het
Serpinb3a	T	A	1: 106,979,500 (GRCm39)	M1L	probably damaging	Het
Sh3d19	T	C	3: 86,031,020 (GRCm39)	I728T	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,478 (GRCm39)	V355A	probably benign	Het
St7	G	A	6: 17,819,287 (GRCm39)	V64M	probably damaging	Het
Tcf25	T	A	8: 124,127,882 (GRCm39)	L622*	probably null	Het
Tiam1	A	G	16: 89,652,779 (GRCm39)	V781A	possibly damaging	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem161b	G	A	13: 84,399,359 (GRCm39)	G5D	probably damaging	Het
Tonsl	G	A	15: 76,523,916 (GRCm39)	A28V	probably benign	Het
Treml4	T	C	17: 48,581,417 (GRCm39)	Y222H	probably damaging	Het
Trp53bp1	A	T	2: 121,087,131 (GRCm39)	V175D	probably damaging	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp286	A	G	11: 62,670,844 (GRCm39)	C410R	probably damaging	Het
Zfp934	T	G	13: 62,665,373 (GRCm39)	N312H	probably benign	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
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
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'- ACGTATGAGGAGCTTGACAG -3'
(R):5'- CCTGCTCGGTAATATCTTTTGACTG -3'

Sequencing Primer
(F):5'- GCTTGACAGAGTGATGATAGAATG -3'
(R):5'- CAGTACCTTTGAATGCACGG -3'

Posted On

2015-06-24