Mutagenetix > Incidental Mutations

Incidental Mutation 'R4789:Triobp'

367353

Institutional Source

Beutler Lab

Gene Symbol

Triobp

Ensembl Gene

ENSMUSG00000033088

Gene Name

TRIO and F-actin binding protein

Synonyms

EST478828, Mus EST 478828, Tara

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78947724-79005869 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78991028 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 137 (D137G)

Ref Sequence

ENSEMBL: ENSMUSP00000155650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109687] [ENSMUST00000109688] [ENSMUST00000109689] [ENSMUST00000109690] [ENSMUST00000130663] [ENSMUST00000144151] [ENSMUST00000229270]

Predicted Effect

probably damaging
Transcript: ENSMUST00000109687
AA Change: D106G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105309
Gene: ENSMUSG00000033088
AA Change: D106G

Domain	Start	End	E-Value	Type
PH	7	104	6.2e-19	SMART
coiled coil region	277	304	N/A	INTRINSIC
coiled coil region	339	377	N/A	INTRINSIC
coiled coil region	401	463	N/A	INTRINSIC
coiled coil region	497	576	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109688

SMART Domains

Protein: ENSMUSP00000105310
Gene: ENSMUSG00000033088

Domain	Start	End	E-Value	Type
low complexity region	6	21	N/A	INTRINSIC
low complexity region	30	47	N/A	INTRINSIC
PH	54	151	6.2e-19	SMART
coiled coil region	324	351	N/A	INTRINSIC
coiled coil region	386	424	N/A	INTRINSIC
coiled coil region	448	510	N/A	INTRINSIC
coiled coil region	544	623	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109689
AA Change: D1447G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105311
Gene: ENSMUSG00000033088
AA Change: D1447G

Domain	Start	End	E-Value	Type
low complexity region	130	154	N/A	INTRINSIC
low complexity region	291	311	N/A	INTRINSIC
internal_repeat_1	312	394	7.43e-13	PROSPERO
internal_repeat_1	390	540	7.43e-13	PROSPERO
low complexity region	585	600	N/A	INTRINSIC
low complexity region	638	657	N/A	INTRINSIC
low complexity region	697	729	N/A	INTRINSIC
low complexity region	767	777	N/A	INTRINSIC
low complexity region	885	901	N/A	INTRINSIC
low complexity region	903	923	N/A	INTRINSIC
low complexity region	995	1017	N/A	INTRINSIC
low complexity region	1054	1068	N/A	INTRINSIC
low complexity region	1221	1235	N/A	INTRINSIC
PH	1395	1492	6.2e-19	SMART
coiled coil region	1665	1692	N/A	INTRINSIC
coiled coil region	1727	1765	N/A	INTRINSIC
coiled coil region	1789	1851	N/A	INTRINSIC
coiled coil region	1885	1964	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109690
AA Change: D1493G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105312
Gene: ENSMUSG00000033088
AA Change: D1493G

Domain	Start	End	E-Value	Type
low complexity region	130	154	N/A	INTRINSIC
low complexity region	291	311	N/A	INTRINSIC
internal_repeat_1	312	394	9.24e-13	PROSPERO
internal_repeat_1	390	540	9.24e-13	PROSPERO
low complexity region	585	600	N/A	INTRINSIC
low complexity region	638	657	N/A	INTRINSIC
low complexity region	697	729	N/A	INTRINSIC
low complexity region	767	777	N/A	INTRINSIC
low complexity region	885	901	N/A	INTRINSIC
low complexity region	903	923	N/A	INTRINSIC
low complexity region	995	1017	N/A	INTRINSIC
low complexity region	1054	1068	N/A	INTRINSIC
low complexity region	1221	1235	N/A	INTRINSIC
PH	1441	1538	6.2e-19	SMART
coiled coil region	1711	1738	N/A	INTRINSIC
coiled coil region	1773	1811	N/A	INTRINSIC
coiled coil region	1835	1897	N/A	INTRINSIC
coiled coil region	1931	2010	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130663
AA Change: D101G

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122988
Gene: ENSMUSG00000033088
AA Change: D101G

Domain	Start	End	E-Value	Type
PH	7	104	6.2e-19	SMART
coiled coil region	277	304	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144151
AA Change: D47G

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116765
Gene: ENSMUSG00000033088
AA Change: D47G

Domain	Start	End	E-Value	Type
PH	1	92	1.04e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000229270
AA Change: D137G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230425

Coding Region Coverage

1x: 98.8%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility, and cell growth. The encoded protein also associates with F-actin and stabilizes F-actin structures. Domains contained in this encoded protein are an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. Mutations in the human gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants have been described [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	C	A	7: 116,093,522	D20E	probably benign	Het
1700057G04Rik	G	A	9: 92,351,031	C69Y	probably damaging	Het
Abcb9	T	A	5: 124,078,790	M455L	probably benign	Het
Add2	G	A	6: 86,118,770	V475M	probably benign	Het
Apoh	T	A	11: 108,409,238	Y238N	probably damaging	Het
Arpp21	A	G	9: 112,067,292	S681P	probably benign	Het
Atp1a3	A	C	7: 24,998,964	F149C	probably damaging	Het
B9d1	A	G	11: 61,506,360	D27G	probably benign	Het
Bfar	T	A	16: 13,685,137	M1K	probably null	Het
Bok	T	C	1: 93,689,241	V103A	probably damaging	Het
Brca1	A	C	11: 101,523,932	H1125Q	probably benign	Het
Card9	T	A	2: 26,357,620	M218L	probably damaging	Het
Cers1	T	C	8: 70,323,368	V303A	probably damaging	Het
Col6a5	T	C	9: 105,937,335	I493V	unknown	Het
Coro7	T	C	16: 4,628,221	Y880C	probably damaging	Het
Cyp2b19	T	C	7: 26,764,376	Y318H	probably benign	Het
Dennd3	T	A	15: 73,522,282	L52Q	probably damaging	Het
Dlat	A	T	9: 50,659,370	C33S	probably benign	Het
Dmxl2	T	A	9: 54,379,815	Q2646L	probably benign	Het
Dnah3	T	C	7: 120,011,072	N1703D	probably damaging	Het
Dock10	T	A	1: 80,541,281	H1241L	probably damaging	Het
Fbxl17	T	G	17: 63,487,915	I391L	probably benign	Het
Fdxacb1	A	G	9: 50,770,118	D113G	possibly damaging	Het
Flii	A	G	11: 60,715,093	S1185P	probably benign	Het
Gm14496	A	T	2: 181,995,784	Q217L	possibly damaging	Het
Heatr9	A	T	11: 83,519,192	D74E	probably benign	Het
Heca	C	A	10: 17,908,147	E91*	probably null	Het
Ikzf4	T	G	10: 128,632,706	T635P	probably benign	Het
Kif17	C	T	4: 138,281,377	P382S	probably damaging	Het
Kmt5b	T	C	19: 3,815,330	V775A	probably benign	Het
Mapk8ip2	T	A	15: 89,459,038	F661Y	probably damaging	Het
Mapkap1	A	G	2: 34,533,847	E111G	possibly damaging	Het
Med9	T	A	11: 59,948,440	N58K	probably benign	Het
Mid2	T	A	X: 140,678,232	Y61N	probably damaging	Het
Mief1	T	A	15: 80,247,879	Y50*	probably null	Het
Mios	T	C	6: 8,235,429	M859T	probably benign	Het
Muc5ac	G	T	7: 141,798,882	C702F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,935		probably benign	Het
Olfr266	A	C	3: 106,822,292	I89R	possibly damaging	Het
Olfr266	T	A	3: 106,822,308	M84L	possibly damaging	Het
Olfr291	T	A	7: 84,857,301	C311S	probably benign	Het
Olfr681	T	G	7: 105,122,313	H285Q	probably null	Het
Pcsk5	C	T	19: 17,433,599	V1810M	probably benign	Het
Pex1	T	C	5: 3,630,270	V964A	probably damaging	Het
Pgm2l1	A	T	7: 100,267,587	M471L	probably benign	Het
Pkd1l2	T	C	8: 117,011,575	T2182A	probably damaging	Het
Polr1b	T	A	2: 129,109,337	I290K	probably benign	Het
Prkg1	T	A	19: 31,585,645	M119L	probably damaging	Het
Rbl1	A	G	2: 157,177,355	V490A	probably benign	Het
Shtn1	G	C	19: 59,050,873	R45G	probably damaging	Het
Slc10a6	T	A	5: 103,628,982	Y84F	probably benign	Het
Slc25a23	T	C	17: 57,059,597	D26G	probably damaging	Het
Slc41a2	T	C	10: 83,316,456	K52E	probably damaging	Het
Slc4a5	T	C	6: 83,270,969	F501L	probably benign	Het
Slfn5	T	A	11: 82,956,400	M37K	probably benign	Het
Sptbn1	A	C	11: 30,117,759	F1818L	probably benign	Het
Taf3	T	C	2: 9,951,959	T466A	probably damaging	Het
Thbs2	C	T	17: 14,671,488	G929D	probably damaging	Het
Tmc3	A	T	7: 83,622,538	D995V	probably damaging	Het
Tmem262	T	C	19: 6,080,422	F59L	possibly damaging	Het
Tspear	T	C	10: 77,866,365	F211L	possibly damaging	Het
Ttn	A	T	2: 76,898,326		probably benign	Het
Ugt2b5	T	A	5: 87,139,691	M206L	probably benign	Het
Ush1g	A	T	11: 115,318,640	S243T	probably damaging	Het
Usp19	A	T	9: 108,493,234	T86S	possibly damaging	Het
Wdhd1	A	G	14: 47,268,692	V255A	probably benign	Het
Wdr11	G	A	7: 129,618,670	W594*	probably null	Het
Wnk3	T	A	X: 151,210,937	Y331*	probably null	Het
Zfp429	A	T	13: 67,390,404	I307K	probably benign	Het
Zkscan14	T	A	5: 145,195,634	K362N	probably damaging	Het

Other mutations in Triobp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Triobp	APN	15	78993368	missense	probably damaging	1.00
IGL01904:Triobp	APN	15	78967364	missense	possibly damaging	0.80
IGL01957:Triobp	APN	15	78972647	critical splice donor site	probably null
IGL02085:Triobp	APN	15	78974297	splice site	probably benign
IGL02260:Triobp	APN	15	78966362	missense	probably benign	0.00
IGL02498:Triobp	APN	15	78961043	missense	probably benign	0.01
IGL02551:Triobp	APN	15	78973489	missense	probably benign
IGL02740:Triobp	APN	15	78966689	missense	probably benign	0.21
IGL02810:Triobp	APN	15	79002203	missense	possibly damaging	0.95
IGL03063:Triobp	APN	15	78990884	missense	probably damaging	1.00
FR4304:Triobp	UTSW	15	78993387	unclassified	probably benign
FR4340:Triobp	UTSW	15	78993390	unclassified	probably benign
FR4342:Triobp	UTSW	15	78993392	unclassified	probably benign
FR4449:Triobp	UTSW	15	78993389	unclassified	probably benign
FR4548:Triobp	UTSW	15	78993387	unclassified	probably benign
FR4548:Triobp	UTSW	15	78993390	unclassified	probably benign
R0276:Triobp	UTSW	15	78973676	missense	probably benign	0.09
R0309:Triobp	UTSW	15	78976540	missense	probably damaging	1.00
R0433:Triobp	UTSW	15	78968201	missense	possibly damaging	0.69
R0464:Triobp	UTSW	15	78966986	missense	possibly damaging	0.71
R0525:Triobp	UTSW	15	78973898	missense	possibly damaging	0.93
R0665:Triobp	UTSW	15	78973898	missense	possibly damaging	0.93
R0689:Triobp	UTSW	15	78959988	nonsense	probably null
R1149:Triobp	UTSW	15	78966479	missense	probably benign	0.00
R1149:Triobp	UTSW	15	78966479	missense	probably benign	0.00
R1151:Triobp	UTSW	15	78966479	missense	probably benign	0.00
R1152:Triobp	UTSW	15	78966479	missense	probably benign	0.00
R1510:Triobp	UTSW	15	79003767	missense	probably damaging	1.00
R1519:Triobp	UTSW	15	78973738	missense	probably benign	0.00
R1642:Triobp	UTSW	15	79002148	missense	probably damaging	1.00
R1732:Triobp	UTSW	15	78967228	missense	possibly damaging	0.69
R1755:Triobp	UTSW	15	78966479	missense	probably benign	0.00
R1975:Triobp	UTSW	15	78966708	missense	probably benign
R2051:Triobp	UTSW	15	79004540	missense	probably damaging	1.00
R2073:Triobp	UTSW	15	78973895	missense	probably damaging	0.99
R2260:Triobp	UTSW	15	78991440	critical splice donor site	probably null
R2351:Triobp	UTSW	15	79004580	missense	probably benign	0.09
R2902:Triobp	UTSW	15	78973418	missense	possibly damaging	0.90
R3801:Triobp	UTSW	15	78973700	missense	probably benign	0.04
R3959:Triobp	UTSW	15	79002389	nonsense	probably null
R4003:Triobp	UTSW	15	78959977	unclassified	probably benign
R4084:Triobp	UTSW	15	78973671	missense	probably benign	0.19
R4482:Triobp	UTSW	15	78966563	missense	possibly damaging	0.87
R4592:Triobp	UTSW	15	78967095	missense	probably benign
R4662:Triobp	UTSW	15	78993269	missense	probably damaging	1.00
R4732:Triobp	UTSW	15	78967113	missense	probably damaging	0.99
R4733:Triobp	UTSW	15	78967113	missense	probably damaging	0.99
R4968:Triobp	UTSW	15	78966616	missense	probably benign	0.03
R4990:Triobp	UTSW	15	78967005	missense	probably benign	0.00
R5129:Triobp	UTSW	15	78961096	missense	probably benign	0.15
R5181:Triobp	UTSW	15	78967754	missense	probably benign	0.00
R5279:Triobp	UTSW	15	78994391	missense	possibly damaging	0.66
R5584:Triobp	UTSW	15	78968132	missense	possibly damaging	0.89
R5601:Triobp	UTSW	15	78973633	missense	probably damaging	1.00
R5810:Triobp	UTSW	15	78968267	missense	probably benign	0.07
R5969:Triobp	UTSW	15	78967540	missense	probably benign	0.05
R6722:Triobp	UTSW	15	79001565	missense	probably damaging	1.00
R6739:Triobp	UTSW	15	78966366	missense	possibly damaging	0.77
R6810:Triobp	UTSW	15	78966615	missense	possibly damaging	0.47
R7011:Triobp	UTSW	15	78978723	missense	probably damaging	0.98
R7015:Triobp	UTSW	15	78994060	missense	probably damaging	0.99
R7200:Triobp	UTSW	15	78966842	small deletion	probably benign
R7294:Triobp	UTSW	15	78973976	missense	probably damaging	0.99
R7805:Triobp	UTSW	15	78974004	missense	probably benign	0.37
RF001:Triobp	UTSW	15	78967027	small insertion	probably benign
RF005:Triobp	UTSW	15	78967061	small insertion	probably benign
RF007:Triobp	UTSW	15	78967044	small insertion	probably benign
RF022:Triobp	UTSW	15	78974282	missense	probably benign	0.05
RF028:Triobp	UTSW	15	78967039	small insertion	probably benign
RF032:Triobp	UTSW	15	78967036	small insertion	probably benign
RF035:Triobp	UTSW	15	78967039	small insertion	probably benign
RF039:Triobp	UTSW	15	78967036	small insertion	probably benign
RF039:Triobp	UTSW	15	78967039	small insertion	probably benign
RF040:Triobp	UTSW	15	78967063	small insertion	probably benign
RF049:Triobp	UTSW	15	78967061	small insertion	probably benign
RF051:Triobp	UTSW	15	78967034	small insertion	probably benign
RF058:Triobp	UTSW	15	78967044	small insertion	probably benign
X0026:Triobp	UTSW	15	78960023	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGTGCTGACGGATTCAAGC -3'
(R):5'- AAAGTGCCTCACTCCAGGACTC -3'

Sequencing Primer
(F):5'- GACGGATTCAAGCCTCAAATATTAC -3'
(R):5'- CTCCAGGACTCTCTAGGTATGTTAAG -3'

Posted On

2015-12-29