Mutagenetix > Incidental Mutation

Incidental Mutation 'R3974:Tigd4'

312512

Institutional Source

Beutler Lab

Gene Symbol

Tigd4

Ensembl Gene

ENSMUSG00000047819

Gene Name

tigger transposable element derived 4

Synonyms

C130063O11Rik, Tigd4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R3974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84500881-84504339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84502585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 501 (A501T)

Ref Sequence

ENSEMBL: ENSMUSP00000052320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062623] [ENSMUST00000154148]

AlphaFold

Q8BUZ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062623
AA Change: A501T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052320
Gene: ENSMUSG00000047819
AA Change: A501T

Domain	Start	End	E-Value	Type
Pfam:CENP-B_N	15	67	9e-14	PFAM
CENPB	81	146	5.52e-16	SMART
Pfam:DDE_1	211	375	4.9e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154148

SMART Domains

Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

Domain	Start	End	E-Value	Type
Arfaptin	1	227	7.15e-121	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,029,488 (GRCm39)	I486T	probably damaging	Het
Abca8a	A	T	11: 109,974,328 (GRCm39)	M202K	probably damaging	Het
Abhd4	T	A	14: 54,500,417 (GRCm39)	I117N	probably damaging	Het
Adam23	T	A	1: 63,586,888 (GRCm39)	Y416*	probably null	Het
Cenpe	A	G	3: 134,940,986 (GRCm39)		probably null	Het
Cenph	A	G	13: 100,900,075 (GRCm39)	V151A	probably damaging	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Clca3a1	A	T	3: 144,738,400 (GRCm39)	V36D	probably damaging	Het
Cnbd1	G	A	4: 18,887,693 (GRCm39)	R274C	probably benign	Het
Crot	T	C	5: 9,027,541 (GRCm39)	T264A	probably benign	Het
Dll4	A	G	2: 119,164,573 (GRCm39)	D664G	probably damaging	Het
Ehbp1	C	T	11: 22,087,867 (GRCm39)	A406T	probably benign	Het
Far2	T	A	6: 148,052,252 (GRCm39)	I177N	probably damaging	Het
Flt4	T	G	11: 49,527,567 (GRCm39)	V910G	probably damaging	Het
Fmod	A	G	1: 133,968,496 (GRCm39)	R179G	probably benign	Het
Gdf2	T	A	14: 33,666,791 (GRCm39)	V171D	probably damaging	Het
Gpx6	C	A	13: 21,501,828 (GRCm39)	S150Y	probably damaging	Het
Grik2	A	T	10: 49,298,750 (GRCm39)	Y37N	probably damaging	Het
Grn	T	C	11: 102,327,165 (GRCm39)	V559A	probably damaging	Het
Lrrc37	A	T	11: 103,509,927 (GRCm39)		probably benign	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Myo5b	T	C	18: 74,767,552 (GRCm39)	Y287H	probably damaging	Het
Nbeal2	T	C	9: 110,462,914 (GRCm39)	T1350A	probably damaging	Het
Nfkbiz	T	C	16: 55,638,799 (GRCm39)	I220M	probably benign	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Omg	T	A	11: 79,393,224 (GRCm39)	E211D	probably benign	Het
Or52ab7	T	G	7: 102,978,285 (GRCm39)	D197E	probably damaging	Het
Or8k18	A	T	2: 86,085,935 (GRCm39)	I34N	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,901 (GRCm39)	T404A	possibly damaging	Het
Plcl1	T	A	1: 55,737,374 (GRCm39)	M905K	probably benign	Het
Plod2	G	T	9: 92,480,672 (GRCm39)	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,089,341 (GRCm39)	V660A	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Ptprq	T	G	10: 107,547,923 (GRCm39)	K158N	possibly damaging	Het
Rimbp2	A	G	5: 128,874,862 (GRCm39)	V243A	probably damaging	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Rtn4	C	T	11: 29,657,505 (GRCm39)	T553I	probably damaging	Het
Scrn3	T	C	2: 73,166,121 (GRCm39)	S385P	possibly damaging	Het
Serpina1f	C	A	12: 103,659,830 (GRCm39)	G151*	probably null	Het
Sis	T	C	3: 72,850,968 (GRCm39)	T577A	probably damaging	Het
Slco1a1	A	T	6: 141,854,819 (GRCm39)	S611T	probably benign	Het
Smad4	G	T	18: 73,810,807 (GRCm39)	T59K	possibly damaging	Het
Syne1	T	C	10: 4,993,630 (GRCm39)	D8370G	probably benign	Het
Tjp1	A	T	7: 64,947,387 (GRCm39)	C1724*	probably null	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Tyw5	A	T	1: 57,430,687 (GRCm39)	D165E	probably damaging	Het
U2af2	T	A	7: 5,072,438 (GRCm39)		probably null	Het
Ube3b	T	A	5: 114,550,491 (GRCm39)	D839E	probably benign	Het
Ush2a	A	G	1: 188,113,698 (GRCm39)	D639G	probably benign	Het
Veph1	A	T	3: 66,065,648 (GRCm39)	M473K	probably benign	Het
Vmn2r72	A	T	7: 85,399,017 (GRCm39)	N445K	probably damaging	Het
Vps37d	T	C	5: 135,105,393 (GRCm39)	M77V	probably null	Het

Other mutations in Tigd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01791:Tigd4	APN	3	84,502,052 (GRCm39)	missense	probably damaging	1.00
R0080:Tigd4	UTSW	3	84,501,452 (GRCm39)	missense	probably benign	0.19
R0320:Tigd4	UTSW	3	84,502,481 (GRCm39)	missense	probably benign
R0347:Tigd4	UTSW	3	84,501,167 (GRCm39)	missense	probably damaging	1.00
R1875:Tigd4	UTSW	3	84,502,394 (GRCm39)	missense	probably benign	0.00
R1876:Tigd4	UTSW	3	84,501,242 (GRCm39)	nonsense	probably null
R2142:Tigd4	UTSW	3	84,501,670 (GRCm39)	missense	possibly damaging	0.95
R2258:Tigd4	UTSW	3	84,501,600 (GRCm39)	missense	probably benign	0.00
R2519:Tigd4	UTSW	3	84,501,221 (GRCm39)	missense	probably damaging	1.00
R2866:Tigd4	UTSW	3	84,501,259 (GRCm39)	missense	possibly damaging	0.48
R2867:Tigd4	UTSW	3	84,501,259 (GRCm39)	missense	possibly damaging	0.48
R2867:Tigd4	UTSW	3	84,501,259 (GRCm39)	missense	possibly damaging	0.48
R4094:Tigd4	UTSW	3	84,501,947 (GRCm39)	missense	probably damaging	1.00
R4967:Tigd4	UTSW	3	84,502,460 (GRCm39)	missense	probably benign	0.03
R5155:Tigd4	UTSW	3	84,501,970 (GRCm39)	missense	possibly damaging	0.96
R5878:Tigd4	UTSW	3	84,501,749 (GRCm39)	missense	probably benign	0.09
R6174:Tigd4	UTSW	3	84,502,574 (GRCm39)	missense	probably benign	0.02
R6960:Tigd4	UTSW	3	84,501,423 (GRCm39)	missense	probably damaging	1.00
R7414:Tigd4	UTSW	3	84,501,128 (GRCm39)	missense	probably benign	0.37
R7445:Tigd4	UTSW	3	84,502,471 (GRCm39)	missense	probably benign	0.01
R7696:Tigd4	UTSW	3	84,502,224 (GRCm39)	missense	possibly damaging	0.89
R7810:Tigd4	UTSW	3	84,502,310 (GRCm39)	missense	possibly damaging	0.49
R8016:Tigd4	UTSW	3	84,501,971 (GRCm39)	missense	possibly damaging	0.46
R8489:Tigd4	UTSW	3	84,502,526 (GRCm39)	missense	probably benign
R8745:Tigd4	UTSW	3	84,501,874 (GRCm39)	missense	probably benign	0.03
R8872:Tigd4	UTSW	3	84,501,547 (GRCm39)	missense	probably benign
X0023:Tigd4	UTSW	3	84,501,164 (GRCm39)	missense	probably damaging	1.00
X0064:Tigd4	UTSW	3	84,501,785 (GRCm39)	missense	probably damaging	1.00
Z1176:Tigd4	UTSW	3	84,501,696 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGTGAAGCCACCCAGAAAG -3'
(R):5'- ATGCAGATCAAAGGCTCTGC -3'

Sequencing Primer
(F):5'- ACCCAGAAAGATGATGCCG -3'
(R):5'- TCAAAGGCTCTGCAGTTAAGC -3'

Posted On

2015-04-30