Mutagenetix > Incidental Mutation

Incidental Mutation 'R8745:Tigd4'

663469

Institutional Source

Beutler Lab

Gene Symbol

Tigd4

Ensembl Gene

ENSMUSG00000047819

Gene Name

tigger transposable element derived 4

Synonyms

C130063O11Rik, Tigd4

MMRRC Submission

068589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R8745 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84500881-84504339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84501874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 264 (I264V)

Ref Sequence

ENSEMBL: ENSMUSP00000052320 (fasta)

Gene Model

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

AlphaFold

Q8BUZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000062623
AA Change: I264V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000052320
Gene: ENSMUSG00000047819
AA Change: I264V

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	A	G	19: 20,611,807 (GRCm39)	N377S	probably benign	Het
Aldh3b3	A	T	19: 4,014,890 (GRCm39)	Y129F	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ankrd61	G	A	5: 143,828,237 (GRCm39)	S246L	possibly damaging	Het
Ccdc187	T	A	2: 26,170,526 (GRCm39)	I651F	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Ceacam13	T	A	7: 17,743,934 (GRCm39)	S14T	probably damaging	Het
Cfap58	A	T	19: 47,929,553 (GRCm39)	K5*	probably null	Het
Col27a1	T	C	4: 63,144,153 (GRCm39)	S614P	probably benign	Het
Crlf3	T	A	11: 79,955,100 (GRCm39)	E85D	probably damaging	Het
Dennd2b	T	A	7: 109,156,279 (GRCm39)	H157L	probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dnah7b	A	G	1: 46,221,624 (GRCm39)	I1243V	possibly damaging	Het
Dnajc22	A	G	15: 98,999,345 (GRCm39)	T177A	probably benign	Het
Dytn	A	T	1: 63,686,606 (GRCm39)	C355S	probably benign	Het
Efcab3	C	T	11: 104,749,304 (GRCm39)	T2340M	possibly damaging	Het
Ehbp1	T	C	11: 22,119,064 (GRCm39)	N202S	possibly damaging	Het
Exoc3l2	T	C	7: 19,215,212 (GRCm39)	I491T	unknown	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Fam53a	A	T	5: 33,767,781 (GRCm39)	I43N	probably damaging	Het
Fis1	G	T	5: 136,982,365 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,676,528 (GRCm39)	T568A	probably benign	Het
Gba1	A	T	3: 89,115,180 (GRCm39)	N404I	probably damaging	Het
Gsap	A	G	5: 21,474,949 (GRCm39)	Y536C	probably benign	Het
Hecw2	T	A	1: 53,972,330 (GRCm39)	E230V	probably damaging	Het
Heg1	A	G	16: 33,555,986 (GRCm39)	Q1046R	probably benign	Het
Kctd14	G	A	7: 97,107,445 (GRCm39)	W233*	probably null	Het
Krt88	T	C	15: 101,351,460 (GRCm39)	S156P	possibly damaging	Het
L3mbtl1	C	A	2: 162,812,137 (GRCm39)	H727Q	probably benign	Het
Man1c1	T	C	4: 134,303,295 (GRCm39)	K400E	probably damaging	Het
Map2	A	T	1: 66,452,556 (GRCm39)	Q482L	probably benign	Het
Map3k1	A	G	13: 111,893,306 (GRCm39)	V733A	probably damaging	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Map4k3	G	A	17: 80,944,164 (GRCm39)	R328C	possibly damaging	Het
Marchf7	C	T	2: 60,067,153 (GRCm39)	Q558*	probably null	Het
Mepe	T	C	5: 104,485,525 (GRCm39)	S222P	possibly damaging	Het
Mfap3l	A	T	8: 61,124,958 (GRCm39)	N400I	possibly damaging	Het
Myom3	T	C	4: 135,522,509 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,659,311 (GRCm39)	T769A	probably benign	Het
Ndufb7	T	A	8: 84,297,518 (GRCm39)	Y58N	probably damaging	Het
Nup160	T	C	2: 90,530,463 (GRCm39)	F445L	probably benign	Het
Or1e20-ps1	C	A	11: 73,324,848 (GRCm39)	*68L	probably null	Het
Or4c126	T	A	2: 89,824,076 (GRCm39)	M113K	probably damaging	Het
Or4p23	T	C	2: 88,576,408 (GRCm39)	I275V	possibly damaging	Het
Ovch2	G	A	7: 107,389,584 (GRCm39)	S321F	possibly damaging	Het
Pamr1	T	C	2: 102,441,924 (GRCm39)	L171P	probably damaging	Het
Pcdhga5	T	C	18: 37,828,974 (GRCm39)	V474A	possibly damaging	Het
Pcgf6	A	G	19: 47,039,159 (GRCm39)	S34P	probably benign	Het
Pitrm1	C	T	13: 6,603,238 (GRCm39)	P96L	probably damaging	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ranbp1	A	G	16: 18,065,244 (GRCm39)	S21P	possibly damaging	Het
Rasgrp2	G	T	19: 6,463,949 (GRCm39)	R549L	probably damaging	Het
Rassf10	T	A	7: 112,554,083 (GRCm39)	L228Q	probably damaging	Het
Rho	A	T	6: 115,912,483 (GRCm39)	I275F	probably damaging	Het
Rrp9	T	C	9: 106,361,657 (GRCm39)	V400A	possibly damaging	Het
Satb2	A	G	1: 57,008,796 (GRCm39)	L62P	unknown	Het
Scmh1	T	A	4: 120,362,559 (GRCm39)	L265*	probably null	Het
Scn7a	A	G	2: 66,510,526 (GRCm39)	M1292T	probably benign	Het
Serpinb10	A	T	1: 107,474,542 (GRCm39)	T235S	probably benign	Het
Serpinb6c	A	G	13: 34,064,702 (GRCm39)	V214A	probably benign	Het
Sf3b3	A	G	8: 111,550,816 (GRCm39)	I616T	possibly damaging	Het
Shb	G	C	4: 45,458,319 (GRCm39)	R282G	probably benign	Het
Snx5	A	T	2: 144,103,932 (GRCm39)	S22T	probably benign	Het
Spata6	T	C	4: 111,636,476 (GRCm39)	F256L	probably benign	Het
Stab2	T	C	10: 86,805,213 (GRCm39)	H255R	probably benign	Het
Sva	T	A	6: 42,015,357 (GRCm39)	M1K	probably null	Het
Tdpoz4	A	T	3: 93,704,221 (GRCm39)	T173S	probably benign	Het
Tex9	T	C	9: 72,389,778 (GRCm39)	I111V	probably benign	Het
Tmem182	C	T	1: 40,877,536 (GRCm39)	A137V	probably damaging	Het
Tnfrsf1a	A	G	6: 125,338,745 (GRCm39)	I385V	probably damaging	Het
Tnrc18	A	T	5: 142,773,202 (GRCm39)	F542L		Het
Tpbpa	G	A	13: 61,087,778 (GRCm39)	T86I	possibly damaging	Het
Trappc14	A	G	5: 138,261,327 (GRCm39)		probably null	Het
Ubr5	G	A	15: 38,025,039 (GRCm39)	P573L		Het
Usp54	A	G	14: 20,612,176 (GRCm39)	I880T	probably benign	Het
Vmn1r9	A	G	6: 57,048,767 (GRCm39)	I281V	probably benign	Het
Zfp456	C	A	13: 67,515,373 (GRCm39)	C111F	possibly damaging	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
R3974:Tigd4	UTSW	3	84,502,585 (GRCm39)	missense	possibly damaging	0.82
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
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'- GGGTTGCTTTATCGAATGTTACCTAC -3'
(R):5'- GATTCATAGCTGCAAACCCG -3'

Sequencing Primer
(F):5'- TTGCATTCAAAGGGGAAACATGCTC -3'
(R):5'- TAGCTGCAAACCCGGAAGAC -3'

Posted On

2021-03-08