Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4342:Triobp'

511292

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4342 ()

Quality Score

202.473

Status

Not validated

Chromosome

Chromosomal Location

78947724-79005869 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to GTCA at 78993392 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155650 (fasta)

Gene Model

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

AlphaFold

Q99KW3

Predicted Effect

probably benign
Transcript: ENSMUST00000109687

SMART Domains

Protein: ENSMUSP00000105309
Gene: ENSMUSG00000033088

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 benign
Transcript: ENSMUST00000109689

SMART Domains

Protein: ENSMUSP00000105311
Gene: ENSMUSG00000033088

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 benign
Transcript: ENSMUST00000109690

SMART Domains

Protein: ENSMUSP00000105312
Gene: ENSMUSG00000033088

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

SMART Domains

Protein: ENSMUSP00000122988
Gene: ENSMUSG00000033088

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

SMART Domains

Protein: ENSMUSP00000116765
Gene: ENSMUSG00000033088

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230425

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.8%
20x: 93.8%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	TT	TTATGT	8: 124,839,833		probably null	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,742		probably benign	Het
4930433I11Rik	AACC	A	7: 40,993,055		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Homo
7530416G11Rik	T	A	15: 85,494,307	E45V	unknown	Homo
AF366264	G	C	8: 13,837,613	H159Q	probably benign	Het
Ankrd35	TCCCC	TCCC	3: 96,683,515		probably null	Het
Anxa2	CCC	CCCACC	9: 69,480,205		probably benign	Het
Anxa2	C	CCCA	9: 69,480,210		probably benign	Het
Apc	CAATAAAGC	CAATAAAGCAAATAAAGC	18: 34,281,999		probably benign	Homo
Arrb2	C	T	11: 70,438,671	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,509,497	V431I	probably benign	Homo
Begain	CCCCGCC	CCCCGCCCCCGCC	12: 109,033,418		probably benign	Homo
Catsper2	TCA	TCAACA	2: 121,397,793		probably benign	Het
Cd164	G	T	10: 41,521,926	A59S	probably benign	Homo
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Homo
Cluh	GAGCCT	GAGCCTCAGCCT	11: 74,669,524		probably benign	Het
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,669,526		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,575		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Het
Col6a5	A	T	9: 105,934,174	N715K	unknown	Homo
Cpeb4	T	TGA	11: 31,927,638		probably benign	Homo
D230025D16Rik	G	A	8: 105,241,098	G207E	probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,680		probably benign	Het
Defa29	C	G	8: 21,326,144	R69P	probably benign	Het
Dhx8	CG	CGAGAACGG	11: 101,738,206		probably null	Het
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dthd1	C	CTTA	5: 62,843,026		probably benign	Homo
E4f1	GC	GCCCC	17: 24,455,197		probably benign	Het
F830016B08Rik	A	ACAG	18: 60,299,941		probably benign	Homo
Fam166b	CAGAG	CAG	4: 43,427,384		probably null	Homo
Fbrsl1	GTGTGTGTGCTGGTGCGTGTGCTGGTG	GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG	5: 110,378,125		probably benign	Het
Fbxo22	A	C	9: 55,221,070		probably null	Het
Flg	G	A	3: 93,290,513		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,525,783		probably benign	Homo
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gjc2	T	TCCCG	11: 59,182,743		probably benign	Homo
Gm13103	AA	AATA	4: 143,851,643		probably null	Homo
Gm14496	A	C	2: 181,995,906	K258Q	probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,099		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,066		probably benign	Het
Gm7534	G	GCTC	4: 134,202,631		probably benign	Homo
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 78,842,178		probably benign	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Homo
Hist1h1t	TGTGG	TG	13: 23,695,913		probably benign	Homo
Hoxa3	G	GCTT	6: 52,170,130		probably benign	Homo
Ifi208	ATGGTG	ATG	1: 173,677,698		probably benign	Homo
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Klra10	G	A	6: 130,272,747	R192C	probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,375		probably benign	Het
Krt10	CGCC	CGCCGCC	11: 99,386,199		probably benign	Het
Krt10	ACC	ACCCCC	11: 99,386,203		probably benign	Homo
Lce1m	CGCTGCTGCTGCCACAGCA	C	3: 93,018,247		probably benign	Het
Mak16	T	G,A	8: 31,161,749	E203D	probably benign	Homo
Med12l	AGCGGC	AGCGGCGGC	3: 59,275,994		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,988		probably benign	Het
Mn1	AGC	AGCGGC	5: 111,419,706		probably benign	Het
Nacad	TC	TCAGGGGC	11: 6,599,762		probably benign	Het
Naip1	C	T	13: 100,425,471	R1062K	probably benign	Het
Ndel1	G	A	11: 68,833,409	P246L	probably damaging	Het
Nelfe	AC	ACAAAGAGCGGGATCGAGACAGAGCC	17: 34,854,089		probably benign	Het
Olfr495	A	G	7: 108,395,893	T258A	probably benign	Het
Olfr495	G	A	7: 108,395,898	M259I	probably benign	Het
Olfr635	TCC	TCCC	7: 103,979,903		probably null	Het
P4ha2	GTGTTGCTG	GTG	11: 54,110,251		probably benign	Homo
Park2	G	A	17: 11,854,763	V323M	probably damaging	Homo
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,534,775		probably benign	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,509		probably benign	Homo
Plekhs1	AGAC	AGACCTCCCCCGCGAC	19: 56,479,861		probably benign	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Homo
Pramef25	G	A	4: 143,949,742	T264M	probably damaging	Het
Pramef25	AAGAG	AAG	4: 143,949,757		probably null	Het
Ptms	TCT	TCTCCT	6: 124,914,454		probably benign	Homo
Raet1d	A	G	10: 22,371,559	Q178R	probably benign	Het
Rtbdn	GC	GCAGCGCC	8: 84,956,178		probably benign	Het
Rtbdn	AGCG	AGCGCCGGCG	8: 84,956,168		probably benign	Het
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Sfswap	CCCACTC	CCCACTCAGACCACTC	5: 129,569,757		probably benign	Homo
Sp110	ACT	ACTGCT	1: 85,587,488		probably benign	Het
Spaca1	GCTCTC	GCTCTCACTCTC	4: 34,049,838		probably benign	Het
Spag17	GGAGGAGGA	GGAGGAGGAGGA	3: 100,056,252		probably benign	Homo
Spag17	GGA	GGATGA	3: 100,056,249		probably benign	Het
Speer4a	C	A	5: 26,036,748	E127*	probably null	Het
Sry	CTGCTGGTG	CTG	Y: 2,663,146		probably benign	Het
Sry	TGG	TGGGGG	Y: 2,662,835		probably benign	Het
Sry	GGT	GGTTGT	Y: 2,662,836		probably benign	Het
Sry	GGT	GGTAGT	Y: 2,662,839		probably benign	Homo
Tdpoz3	C	T	3: 93,826,512	P165S	probably benign	Het
Tdpoz4	GAA	GA	3: 93,796,880		probably null	Het
Tert	AGGCC	AGGCCAAGGGGGCC	13: 73,648,300		probably benign	Homo
Tmbim7	C	T	5: 3,670,064	R100C	possibly damaging	Homo
Tnfrsf9	CT	CTGAT	4: 150,934,394		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,214,472		probably benign	Het
Trav6n-5	GCTT	G	14: 53,104,912		probably benign	Homo
Tsen2	AGG	AGGTGG	6: 115,560,072		probably benign	Het
Ubtf	TC	TCCCC	11: 102,306,959		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,306,956		probably benign	Het
Vmn2r125	G	A	4: 156,350,965	V213I	probably benign	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zdhhc16	G	A	19: 41,942,149		probably benign	Het
Zfp28	G	A	7: 6,394,863	G766R	probably damaging	Het
Zfp335	GTCGTC	GTCGTCGTC	2: 164,907,465		probably benign	Het
Zfp335	C	CCCC	2: 164,907,477		probably benign	Het
Zfp428	G	A	7: 24,515,081	D41N	probably damaging	Homo
Zfp429	A	T	13: 67,396,650	F48Y	probably benign	Het
Zfp598	CCACC	CCACCCACACC	17: 24,680,780		probably benign	Het
Zfp93	G	A	7: 24,275,586	R332H	possibly 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
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
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'- CAACGCTCTGAGGAAAGACG -3'
(R):5'- AGGCAGTGCAAAGCTTCAGTC -3'

Sequencing Primer
(F):5'- TGGTTCGAGTCCACGGAC -3'
(R):5'- AAAGCTTCAGTCCCTGTGAG -3'

Posted On

2018-04-05