Mutagenetix > Incidental Mutation

Incidental Mutation 'R4905:Tigd5'

378134

Institutional Source

Beutler Lab

Gene Symbol

Tigd5

Ensembl Gene

ENSMUSG00000103906

Gene Name

tigger transposable element derived 5

Synonyms

FLJ14926

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4905 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

75781584-75786384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75783252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 538 (H538R)

Ref Sequence

ENSEMBL: ENSMUSP00000141473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023235] [ENSMUST00000089680] [ENSMUST00000089681] [ENSMUST00000109972] [ENSMUST00000109975] [ENSMUST00000192937] [ENSMUST00000144614] [ENSMUST00000145764] [ENSMUST00000141268] [ENSMUST00000141475] [ENSMUST00000116440] [ENSMUST00000123712] [ENSMUST00000151066] [ENSMUST00000154584]

AlphaFold

Q499M4

Predicted Effect

probably benign
Transcript: ENSMUST00000023235

SMART Domains

Protein: ENSMUSP00000023235
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	62	75	N/A	INTRINSIC
coiled coil region	82	120	N/A	INTRINSIC
EF-1_beta_acid	159	186	2.53e-4	SMART
Pfam:EF1_GNE	195	245	3.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050151
AA Change: T548A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000055220

Predicted Effect

probably benign
Transcript: ENSMUST00000089680

SMART Domains

Protein: ENSMUSP00000087109
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	54	70	N/A	INTRINSIC
coiled coil region	77	115	N/A	INTRINSIC
EF-1_beta_acid	154	181	2.53e-4	SMART
EF1_GNE	190	276	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000089681

SMART Domains

Protein: ENSMUSP00000087110
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	32	52	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
internal_repeat_2	108	136	2.92e-5	PROSPERO
low complexity region	137	156	N/A	INTRINSIC
internal_repeat_2	231	259	2.92e-5	PROSPERO
internal_repeat_1	244	263	2.02e-6	PROSPERO
internal_repeat_1	389	408	2.02e-6	PROSPERO
low complexity region	441	454	N/A	INTRINSIC
coiled coil region	461	499	N/A	INTRINSIC
EF-1_beta_acid	538	565	2.53e-4	SMART
EF1_GNE	574	660	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109972

SMART Domains

Protein: ENSMUSP00000105599
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
coiled coil region	58	96	N/A	INTRINSIC
EF-1_beta_acid	135	162	2.53e-4	SMART
EF1_GNE	171	257	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109975

SMART Domains

Protein: ENSMUSP00000105602
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	32	52	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
internal_repeat_2	108	136	2.92e-5	PROSPERO
low complexity region	137	156	N/A	INTRINSIC
internal_repeat_2	231	259	2.92e-5	PROSPERO
internal_repeat_1	244	263	2.02e-6	PROSPERO
internal_repeat_1	389	408	2.02e-6	PROSPERO
low complexity region	441	454	N/A	INTRINSIC
coiled coil region	461	499	N/A	INTRINSIC
EF-1_beta_acid	538	565	2.53e-4	SMART
EF1_GNE	574	660	4.87e-41	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000192937
AA Change: H538R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141473
Gene: ENSMUSG00000103906
AA Change: H538R

Domain	Start	End	E-Value	Type
low complexity region	34	55	N/A	INTRINSIC
Pfam:CENP-B_N	63	112	1.6e-10	PFAM
CENPB	128	195	1.41e-13	SMART
Pfam:DDE_1	238	377	8.2e-21	PFAM
low complexity region	554	567	N/A	INTRINSIC
low complexity region	569	582	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201593
AA Change: T548A

Predicted Effect

probably benign
Transcript: ENSMUST00000144614

SMART Domains

Protein: ENSMUSP00000123005
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	62	75	N/A	INTRINSIC
coiled coil region	82	120	N/A	INTRINSIC
EF-1_beta_acid	159	186	2.53e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145764

SMART Domains

Protein: ENSMUSP00000117782
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	32	52	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141268

SMART Domains

Protein: ENSMUSP00000115553
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	78	94	N/A	INTRINSIC
coiled coil region	101	139	N/A	INTRINSIC
EF-1_beta_acid	178	205	2.53e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141475

SMART Domains

Protein: ENSMUSP00000123388
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	32	52	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
internal_repeat_1	122	136	7.17e-5	PROSPERO
low complexity region	137	156	N/A	INTRINSIC
internal_repeat_1	174	188	7.17e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000116440

SMART Domains

Protein: ENSMUSP00000112141
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
coiled coil region	58	96	N/A	INTRINSIC
EF-1_beta_acid	135	162	2.53e-4	SMART
EF1_GNE	171	257	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123712

SMART Domains

Protein: ENSMUSP00000122155
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
coiled coil region	58	96	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151066

SMART Domains

Protein: ENSMUSP00000118889
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
EF-1_beta_acid	68	95	2.53e-4	SMART
EF1_GNE	104	190	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154584

SMART Domains

Protein: ENSMUSP00000116360
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	62	75	N/A	INTRINSIC
coiled coil region	82	120	N/A	INTRINSIC
EF-1_beta_acid	159	186	1.2e-8	SMART
EF1_GNE	195	280	4.9e-41	SMART

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,448,680 (GRCm39)		probably null	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc5	A	G	16: 20,218,678 (GRCm39)	S235P	probably damaging	Het
Abcc6	T	C	7: 45,644,649 (GRCm39)	N842S	probably benign	Het
Acbd6	G	A	1: 155,500,669 (GRCm39)	V210I	probably benign	Het
Ahctf1	A	T	1: 179,576,192 (GRCm39)	V2130D	probably damaging	Het
Akap5	A	G	12: 76,375,207 (GRCm39)	E213G	probably damaging	Het
Alyref	T	G	11: 120,486,879 (GRCm39)		probably null	Het
Anapc5	G	T	5: 122,955,973 (GRCm39)	N152K	probably benign	Het
Atp8b2	A	T	3: 89,856,315 (GRCm39)	D416E	probably benign	Het
AW551984	A	T	9: 39,508,454 (GRCm39)	V354E	probably damaging	Het
Bag6	A	G	17: 35,364,162 (GRCm39)	E844G	probably damaging	Het
Bmp1	C	T	14: 70,728,802 (GRCm39)	R590H	probably benign	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Col6a6	A	G	9: 105,644,623 (GRCm39)	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,502,282 (GRCm39)	G118S	probably damaging	Het
Dnah9	G	A	11: 65,764,950 (GRCm39)	R1414*	probably null	Het
Dnai1	A	G	4: 41,614,269 (GRCm39)	D315G	probably benign	Het
Eogt	T	C	6: 97,119,792 (GRCm39)	R139G	probably benign	Het
Fcgbpl1	A	T	7: 27,856,408 (GRCm39)	K2065M	possibly damaging	Het
Fh1	C	T	1: 175,446,639 (GRCm39)	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,374,304 (GRCm39)	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,821,545 (GRCm39)	R219L	probably damaging	Het
Gm1123	T	C	9: 98,891,369 (GRCm39)	D360G	probably benign	Het
Ift81	C	T	5: 122,729,142 (GRCm39)		probably null	Het
Itsn2	A	G	12: 4,684,583 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,198,998 (GRCm39)	H55Q	probably benign	Het
Mcidas	C	T	13: 113,134,038 (GRCm39)	T174M	possibly damaging	Het
Mcidas	C	A	13: 113,130,951 (GRCm39)	A92E	possibly damaging	Het
Mmp25	C	A	17: 23,863,022 (GRCm39)	G130*	probably null	Het
Myh11	G	A	16: 14,068,387 (GRCm39)	T211M	probably benign	Het
Myo10	A	G	15: 25,800,298 (GRCm39)	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,139,104 (GRCm39)	T154A	probably damaging	Het
Nfatc4	T	C	14: 56,068,039 (GRCm39)	I620T	probably benign	Het
Nos3	A	T	5: 24,572,329 (GRCm39)	Y134F	probably benign	Het
Nup50l	T	A	6: 96,142,911 (GRCm39)	R44S	possibly damaging	Het
Or13c3	T	C	4: 52,855,613 (GRCm39)	N300S	probably damaging	Het
Or51a6	A	T	7: 102,604,721 (GRCm39)	I36N	probably damaging	Het
Or5b106	C	A	19: 13,123,541 (GRCm39)	A161S	probably benign	Het
Or6c209	T	A	10: 129,483,792 (GRCm39)	V265E	possibly damaging	Het
Pax9	G	T	12: 56,743,411 (GRCm39)	R19S	probably damaging	Het
Pcdha9	T	C	18: 37,131,945 (GRCm39)	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,041,614 (GRCm39)	T1730K	probably damaging	Het
Rac1	A	G	5: 143,502,907 (GRCm39)		probably null	Het
Samsn1	G	T	16: 75,673,353 (GRCm39)	F174L	possibly damaging	Het
Scaf1	G	A	7: 44,662,129 (GRCm39)	T86M	probably damaging	Het
Smc1b	A	G	15: 84,950,428 (GRCm39)	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308 (GRCm39)	I2826T	probably benign	Het
Tex36	A	G	7: 133,189,182 (GRCm39)	V130A	probably damaging	Het
Tlr3	C	A	8: 45,852,260 (GRCm39)		probably null	Het
Tubb2b	A	T	13: 34,312,187 (GRCm39)	I202N	probably damaging	Het
Unc13c	A	G	9: 73,587,674 (GRCm39)	V1453A	probably benign	Het
Unc5c	A	T	3: 141,507,071 (GRCm39)	T608S	probably benign	Het
Vrk1	C	A	12: 106,018,087 (GRCm39)	H119N	probably damaging	Het
Wdr53	T	A	16: 32,075,476 (GRCm39)	M227K	probably benign	Het
Xpo4	T	C	14: 57,875,746 (GRCm39)	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,953,992 (GRCm39)	I224T	probably damaging	Het
Zdhhc1	T	A	8: 106,210,326 (GRCm39)	E30D	probably damaging	Het
Zscan29	C	G	2: 120,991,864 (GRCm39)	R540T	possibly damaging	Het

Other mutations in Tigd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4516:Tigd5	UTSW	15	75,782,364 (GRCm39)	nonsense	probably null
R5579:Tigd5	UTSW	15	75,782,874 (GRCm39)	missense	probably damaging	1.00
R6146:Tigd5	UTSW	15	75,782,094 (GRCm39)	missense	probably damaging	1.00
R6253:Tigd5	UTSW	15	75,782,871 (GRCm39)	missense	probably damaging	1.00
R6278:Tigd5	UTSW	15	75,781,842 (GRCm39)	missense	probably damaging	1.00
R6452:Tigd5	UTSW	15	75,783,287 (GRCm39)	nonsense	probably null
R6466:Tigd5	UTSW	15	75,782,352 (GRCm39)	missense	possibly damaging	0.72
R6533:Tigd5	UTSW	15	75,782,039 (GRCm39)	missense	possibly damaging	0.93
R7084:Tigd5	UTSW	15	75,782,230 (GRCm39)	nonsense	probably null
R7473:Tigd5	UTSW	15	75,781,748 (GRCm39)	missense	probably benign
R7510:Tigd5	UTSW	15	75,782,268 (GRCm39)	missense	probably benign	0.28
R8372:Tigd5	UTSW	15	75,782,337 (GRCm39)	missense	probably benign	0.02
R8891:Tigd5	UTSW	15	75,783,069 (GRCm39)	missense	possibly damaging	0.92
Z1176:Tigd5	UTSW	15	75,782,803 (GRCm39)	missense	probably benign	0.13
Z1177:Tigd5	UTSW	15	75,783,351 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TTCTCAAGGACATGCTGTACCTG -3'
(R):5'- TCTAGTCCCCAGACAGCTTC -3'

Sequencing Primer
(F):5'- ACATGCTGTACCTGGCTGG -3'
(R):5'- TTCCCCAGCAGTAGGTACC -3'

Posted On

2016-04-15