Mutagenetix > Incidental Mutation

Incidental Mutation 'R1510:Triobp'

167882

Institutional Source

Beutler Lab

Gene Symbol

Triobp

Ensembl Gene

ENSMUSG00000033088

Gene Name

TRIO and F-actin binding protein

Synonyms

EST478828, Mus EST 478828, Tara

MMRRC Submission

039557-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78947724-79005869 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79003767 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1908 (R1908Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105311 (fasta)

Gene Model

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

AlphaFold

Q99KW3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109687
AA Change: R567Q

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105309
Gene: ENSMUSG00000033088
AA Change: R567Q

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: R1908Q

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

SMART Domains

Protein: ENSMUSP00000105311
Gene: ENSMUSG00000033088
AA Change: R1908Q

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

possibly damaging
Transcript: ENSMUST00000109690
AA Change: R1954Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105312
Gene: ENSMUSG00000033088
AA Change: R1954Q

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

noncoding transcript
Transcript: ENSMUST00000129922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230425

Meta Mutation Damage Score

0.0956

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	T	12: 55,304,212	Q102L	probably benign	Het
1700001L19Rik	T	A	13: 68,597,477	M1K	probably null	Het
Abcd2	A	G	15: 91,188,978	L326S	probably damaging	Het
Adam18	T	A	8: 24,625,831	T616S	probably benign	Het
Adam22	T	C	5: 8,152,408	K215E	probably benign	Het
Ahi1	T	G	10: 20,959,800	S11A	probably benign	Het
Asb18	T	C	1: 89,996,254	M96V	possibly damaging	Het
Baz2b	T	C	2: 59,922,209	D1149G	probably damaging	Het
C1qtnf3	A	G	15: 10,975,636	E176G	probably benign	Het
Cd151	T	A	7: 141,470,367	S172T	probably benign	Het
Cdh2	G	T	18: 16,648,594	L90I	probably benign	Het
Cdkl3	T	C	11: 52,033,514	V55A	possibly damaging	Het
Chst8	T	A	7: 34,675,268	H382L	probably benign	Het
Cyb5r4	T	C	9: 87,066,643		probably benign	Het
Cyp2j13	T	C	4: 96,061,972	D264G	possibly damaging	Het
Daam1	A	G	12: 71,977,726	M814V	probably damaging	Het
Ddx19b	A	G	8: 111,015,653	I150T	probably damaging	Het
Dync1li1	T	G	9: 114,689,210	S50A	possibly damaging	Het
Fat3	A	T	9: 15,960,055	L3680Q	probably damaging	Het
Fermt1	C	T	2: 132,925,022	E342K	probably benign	Het
Gm21286	T	G	4: 60,838,932		noncoding transcript	Het
Il6	T	C	5: 30,018,062	Y126H	probably damaging	Het
Inhba	G	T	13: 16,027,022	V390L	probably damaging	Het
Ino80	C	T	2: 119,450,049	R278H	probably damaging	Het
Jade3	T	G	X: 20,517,818	N799K	probably benign	Het
Kcnn1	G	A	8: 70,864,070		probably benign	Het
Klhl6	T	C	16: 19,947,098	T585A	probably damaging	Het
Kmt2d	T	A	15: 98,856,377		probably benign	Het
Krt17	C	T	11: 100,257,539	E359K	possibly damaging	Het
Lce1b	T	G	3: 92,655,976	R83S	unknown	Het
Lck	T	C	4: 129,555,668	S290G	possibly damaging	Het
Ltbp3	T	C	19: 5,748,887	S544P	probably benign	Het
Lypd6b	T	A	2: 49,934,819	S4R	probably damaging	Het
Macf1	T	C	4: 123,434,762	D4724G	probably null	Het
Mcoln2	A	G	3: 146,176,610	T255A	probably benign	Het
Mcph1	T	A	8: 18,632,687		probably null	Het
Mki67	C	A	7: 135,696,171	R2378L	probably benign	Het
Mxd1	A	G	6: 86,653,155	V27A	possibly damaging	Het
Myo5a	T	C	9: 75,171,551	Y864H	probably benign	Het
Ndel1	A	T	11: 68,822,656	N318K	possibly damaging	Het
Oasl1	A	G	5: 114,928,108	Q95R	probably benign	Het
Olfr1052	T	C	2: 86,298,371	L185P	probably damaging	Het
Olfr1415	A	T	1: 92,491,617	I46N	probably damaging	Het
Olfr198	A	T	16: 59,202,183	M81K	probably damaging	Het
Olfr480	T	C	7: 108,066,528	Y60C	probably damaging	Het
Parp10	T	A	15: 76,241,417	Q487L	probably damaging	Het
Pcdh10	C	T	3: 45,379,403	R51C	probably damaging	Het
Pdpr	A	T	8: 111,124,475		probably benign	Het
Pfpl	A	T	19: 12,429,696	D437V	probably benign	Het
Pik3c2a	G	A	7: 116,388,045	T547I	probably benign	Het
Pkdrej	A	C	15: 85,816,762	S1658A	possibly damaging	Het
Pkn3	T	C	2: 30,079,764		probably null	Het
Plekhh2	A	G	17: 84,559,576		probably null	Het
Plxdc1	A	T	11: 97,932,324	C357S	probably damaging	Het
Pnp	A	G	14: 50,950,585	T132A	possibly damaging	Het
Rcan2	A	G	17: 43,836,424	D51G	probably damaging	Het
Rcn1	T	C	2: 105,389,089	N253S	probably damaging	Het
Rreb1	T	A	13: 37,931,884	I1073N	probably benign	Het
Scaf4	G	T	16: 90,245,394	D686E	unknown	Het
Sfxn5	A	C	6: 85,236,925	M221R	probably damaging	Het
Slc38a1	A	G	15: 96,609,860	F104L	probably damaging	Het
Slc8a1	A	T	17: 81,648,118	V497D	probably damaging	Het
Spryd3	C	A	15: 102,118,961	G290C	probably damaging	Het
Stc2	A	T	11: 31,365,418	Y140*	probably null	Het
Stfa2	A	T	16: 36,408,311	I8K	possibly damaging	Het
Sult3a2	A	T	10: 33,782,030	M29K	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpm2	T	A	10: 77,966,994	R7*	probably null	Het
Ttn	T	C	2: 76,952,157	I912V	probably benign	Het
Tusc2	T	A	9: 107,564,881	V93E	probably damaging	Het
Uhrf2	T	A	19: 30,039,061		probably benign	Het
Umodl1	G	A	17: 30,959,229	V60M	probably damaging	Het
Ush2a	A	T	1: 188,648,304	D2270V	probably damaging	Het
Vmn2r80	A	G	10: 79,169,719	T397A	possibly damaging	Het
Wbp2	A	G	11: 116,086,882	V15A	probably benign	Het
Zfp182	T	A	X: 21,030,207	R617W	probably damaging	Het
Zfp82	C	A	7: 30,056,622	R345L	probably damaging	Het
Zfp85	T	C	13: 67,754,965		probably benign	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
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
R4789:Triobp	UTSW	15	78991028	missense	probably damaging	1.00
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
R7688:Triobp	UTSW	15	78961111	splice site	probably null
R7805:Triobp	UTSW	15	78974004	missense	probably benign	0.37
R7972:Triobp	UTSW	15	78967986	missense	probably damaging	1.00
R7977:Triobp	UTSW	15	79001544	missense	probably damaging	1.00
R7987:Triobp	UTSW	15	79001544	missense	probably damaging	1.00
R7999:Triobp	UTSW	15	78959944	missense	probably damaging	0.99
R8344:Triobp	UTSW	15	78958275	missense	possibly damaging	0.67
R8348:Triobp	UTSW	15	78994126	missense	possibly damaging	0.85
R8446:Triobp	UTSW	15	78994126	missense	possibly damaging	0.85
R8448:Triobp	UTSW	15	78994126	missense	possibly damaging	0.85
R8469:Triobp	UTSW	15	78967019	missense	probably benign	0.00
R8491:Triobp	UTSW	15	78994126	missense	possibly damaging	0.85
R8492:Triobp	UTSW	15	78994126	missense	possibly damaging	0.85
R8493:Triobp	UTSW	15	78994126	missense	possibly damaging	0.85
R9424:Triobp	UTSW	15	78960066	missense	probably damaging	1.00
R9495:Triobp	UTSW	15	78993178	missense	probably damaging	1.00
R9514:Triobp	UTSW	15	78993178	missense	probably damaging	1.00
R9530:Triobp	UTSW	15	79002121	missense	probably damaging	1.00
R9550:Triobp	UTSW	15	78973877	missense	probably damaging	1.00
R9576:Triobp	UTSW	15	78960066	missense	probably damaging	1.00
R9646:Triobp	UTSW	15	79003734	missense	probably damaging	1.00
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
Z1177:Triobp	UTSW	15	79002181	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCCACCACATTGATAGAGCTAC -3'
(R):5'- AGGCTTTTCCAATTCCCAGCTACAC -3'

Sequencing Primer
(F):5'- GAGCTACAGTTCACAGTAGAGCC -3'
(R):5'- TTGGAATCGACCCACTGC -3'

Posted On

2014-04-13