Mutagenetix > Incidental Mutations

Incidental Mutation 'R5155:Tigd4'

396639

Institutional Source

Beutler Lab

Gene Symbol

Tigd4

Ensembl Gene

ENSMUSG00000047819

Gene Name

tigger transposable element derived 4

Synonyms

Tigd4, C130063O11Rik

MMRRC Submission

042737-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84593574-84597032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84594663 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 296 (V296M)

Ref Sequence

ENSEMBL: ENSMUSP00000052320 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062623
AA Change: V296M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052320
Gene: ENSMUSG00000047819
AA Change: V296M

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,490,703	I323T	probably damaging	Het
Abca13	T	C	11: 9,532,447	V4326A	probably damaging	Het
Actn4	A	G	7: 28,962,017		probably null	Het
Adamts8	A	G	9: 30,954,548	D464G	probably benign	Het
Adssl1	T	C	12: 112,638,208	I366T	probably damaging	Het
Alox12e	T	C	11: 70,316,255	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,778,330	M73K	probably benign	Het
Ap4e1	A	G	2: 127,063,369	T987A	probably benign	Het
Banp	A	C	8: 122,001,020	S318R	probably damaging	Het
Bcas1	T	C	2: 170,418,618	H47R	probably damaging	Het
Brwd1	G	T	16: 96,002,793	S2524*	probably null	Het
Cand2	T	A	6: 115,792,258	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,141,126	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,507,572	Y83F	probably benign	Het
Ccdc155	C	A	7: 45,189,654	E53*	probably null	Het
Ccdc162	A	T	10: 41,553,580		probably null	Het
Ccdc162	A	C	10: 41,579,151	S396A	probably damaging	Het
Ces1e	A	T	8: 93,201,406	*562R	probably null	Het
Clstn2	T	A	9: 97,456,431	M892L	probably benign	Het
Crybg3	T	C	16: 59,524,901	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,652,485	N326S	probably benign	Het
Cux1	G	A	5: 136,565,441		probably benign	Het
Cyb5r4	T	G	9: 87,040,403	M155R	probably benign	Het
D130043K22Rik	A	G	13: 24,872,290	D535G	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,184	T1486A	probably damaging	Het
Dnah2	G	A	11: 69,422,536	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,643,495	N272I	probably benign	Het
Dsg2	A	G	18: 20,598,658	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 138,126,743	N507K	probably benign	Het
Elavl4	T	C	4: 110,292,636	Q3R	probably null	Het
Engase	T	G	11: 118,481,281	I133S	probably benign	Het
Ercc5	T	C	1: 44,180,622	V1018A	probably damaging	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,673,562	A270T	probably benign	Het
Fhdc1	T	G	3: 84,446,150	Q589H	probably benign	Het
Gatm	G	A	2: 122,609,853	T35I	probably benign	Het
Gcgr	T	C	11: 120,537,046	I271T	probably benign	Het
Gm21818	T	C	13: 120,173,553	S124P	probably benign	Het
Gm527	T	A	12: 64,923,607	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,267,384	H139R	possibly damaging	Het
Herc2	G	A	7: 56,227,826	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,035,303	S89T	probably benign	Het
Lrba	A	G	3: 86,351,300	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,728,622		probably null	Het
Map1a	G	A	2: 121,302,386	A990T	probably damaging	Het
Micall2	C	A	5: 139,710,231	L784F	probably damaging	Het
Mmp9	T	C	2: 164,949,066		probably null	Het
Mrps7	T	A	11: 115,604,829	Y64*	probably null	Het
Mslnl	C	T	17: 25,738,968	Q62*	probably null	Het
Nfil3	A	G	13: 52,968,580	L96P	probably damaging	Het
Olfr453	A	G	6: 42,744,814	Y259C	probably damaging	Het
Phf3	T	C	1: 30,824,376	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,958,988		probably null	Het
Prickle4	C	T	17: 47,690,057		probably null	Het
Prr9	T	A	3: 92,123,049	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,160,091		probably null	Het
Prrt3	A	G	6: 113,497,559		probably null	Het
Psme4	A	T	11: 30,876,806	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,713,572	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,203,147	S125P	probably damaging	Het
Rnf8	A	G	17: 29,626,630	Y65C	probably damaging	Het
Rph3a	T	C	5: 120,948,770	T456A	possibly damaging	Het
Scaper	T	A	9: 55,556,086	Q854L	probably null	Het
Sez6l2	T	C	7: 126,962,373	S472P	probably damaging	Het
Spsb3	T	C	17: 24,886,995		probably benign	Het
Srebf2	A	G	15: 82,196,226	D40G	probably damaging	Het
Sspo	A	G	6: 48,460,474	N1389D	probably benign	Het
Taf4b	G	T	18: 14,830,095	A631S	probably benign	Het
Tsc22d2	T	A	3: 58,417,316		probably benign	Het
Uso1	T	A	5: 92,167,335		probably null	Het
Vmn2r6	T	G	3: 64,538,514	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,412,121	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,906,965	Q44L	probably benign	Het

Other mutations in Tigd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01791:Tigd4	APN	3	84594745	missense	probably damaging	1.00
R0080:Tigd4	UTSW	3	84594145	missense	probably benign	0.19
R0320:Tigd4	UTSW	3	84595174	missense	probably benign
R0347:Tigd4	UTSW	3	84593860	missense	probably damaging	1.00
R1875:Tigd4	UTSW	3	84595087	missense	probably benign	0.00
R1876:Tigd4	UTSW	3	84593935	nonsense	probably null
R2142:Tigd4	UTSW	3	84594363	missense	possibly damaging	0.95
R2258:Tigd4	UTSW	3	84594293	missense	probably benign	0.00
R2519:Tigd4	UTSW	3	84593914	missense	probably damaging	1.00
R2866:Tigd4	UTSW	3	84593952	missense	possibly damaging	0.48
R2867:Tigd4	UTSW	3	84593952	missense	possibly damaging	0.48
R2867:Tigd4	UTSW	3	84593952	missense	possibly damaging	0.48
R3974:Tigd4	UTSW	3	84595278	missense	possibly damaging	0.82
R4094:Tigd4	UTSW	3	84594640	missense	probably damaging	1.00
R4967:Tigd4	UTSW	3	84595153	missense	probably benign	0.03
R5878:Tigd4	UTSW	3	84594442	missense	probably benign	0.09
R6174:Tigd4	UTSW	3	84595267	missense	probably benign	0.02
R6960:Tigd4	UTSW	3	84594116	missense	probably damaging	1.00
R7414:Tigd4	UTSW	3	84593821	missense	probably benign	0.37
R7445:Tigd4	UTSW	3	84595164	missense	probably benign	0.01
R7696:Tigd4	UTSW	3	84594917	missense	possibly damaging	0.89
R7810:Tigd4	UTSW	3	84595003	missense	possibly damaging	0.49
X0023:Tigd4	UTSW	3	84593857	missense	probably damaging	1.00
X0064:Tigd4	UTSW	3	84594478	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGCTCCCTTTGCTGATC -3'
(R):5'- GCAGAGATGCAATGTATCAACTGC -3'

Sequencing Primer
(F):5'- CTTTGCTGATCATCGGGAAAAACC -3'
(R):5'- GCAATGTATCAACTGCATCTAGAAG -3'

Posted On

2016-06-21