Mutagenetix > Incidental Mutation

Incidental Mutation 'RF005:Triobp'

602783

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 #

RF005 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

78831924-78890069 bp(+) (GRCm39)

Type of Mutation

small insertion (10 aa in frame mutation)

DNA Base Change (assembly)

GACAA to GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA at 78851261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109689] [ENSMUST00000109690] [ENSMUST00000140228]

AlphaFold

Q99KW3

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: ENSMUST00000140228

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

94% (65/69)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,847 (GRCm39)		probably benign	Het
A030005L19Rik	CTGCTG	CTGCTGTGGATGCTG	1: 82,891,306 (GRCm39)		probably benign	Het
Abca1	G	T	4: 53,049,125 (GRCm39)	T1651N	probably damaging	Het
Adamtsl3	A	G	7: 82,261,603 (GRCm39)	T40A		Het
Adgra3	A	T	5: 50,170,729 (GRCm39)		probably null	Het
Apcs	A	T	1: 172,721,809 (GRCm39)	M179K	probably damaging	Het
Baiap2	G	A	11: 119,887,355 (GRCm39)	E217K	possibly damaging	Het
Bltp3a	A	T	17: 28,104,505 (GRCm39)	D517V	probably damaging	Het
Ccdc69	A	G	11: 54,951,349 (GRCm39)	L24P	probably damaging	Het
Cdh16	T	G	8: 105,343,684 (GRCm39)	N604T	probably damaging	Het
Cfb	C	T	17: 35,077,022 (GRCm39)	V538I	possibly damaging	Het
Col6a3	A	G	1: 90,738,984 (GRCm39)	S1022P	probably benign	Het
Cpeb1	A	G	7: 81,011,554 (GRCm39)	L129S	possibly damaging	Het
Crybg1	A	G	10: 43,880,741 (GRCm39)	V149A	probably benign	Het
Cyp4f16	C	A	17: 32,764,169 (GRCm39)		probably null	Het
Dlg5	G	A	14: 24,208,561 (GRCm39)	Q882*	probably null	Het
Fsip2	T	A	2: 82,822,876 (GRCm39)	I6203K	probably benign	Het
Gabre	CCGGCT	CCGGCTACGGCT	X: 71,313,651 (GRCm39)		probably null	Het
Gprc5d	A	T	6: 135,093,517 (GRCm39)	L130Q	probably damaging	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Hmcn1	T	A	1: 150,510,897 (GRCm39)	K3609*	probably null	Het
Hsdl2	GCTGCAG	GCTGCAGCAGCAGCCACATCTGCAG	4: 59,610,652 (GRCm39)		probably benign	Het
Kl	A	C	5: 150,876,885 (GRCm39)	Y235S	probably benign	Het
Map6d1	G	A	16: 20,059,750 (GRCm39)	T105I	probably benign	Het
Mast4	GGTGGTGGTGG	GGTGGTGGTGGTGGTGG	13: 102,872,815 (GRCm39)		probably benign	Het
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,406,644 (GRCm39)		probably benign	Het
Mms22l	A	G	4: 24,517,207 (GRCm39)	I363V	probably benign	Het
Myo7a	T	C	7: 97,742,824 (GRCm39)	I391V	probably benign	Het
Nab2	A	T	10: 127,500,233 (GRCm39)	D286E	probably benign	Het
Nrxn1	G	A	17: 90,670,304 (GRCm39)	R1144C	probably damaging	Het
Or51q1	A	G	7: 103,628,768 (GRCm39)	D123G	probably damaging	Het
Or52j3	T	C	7: 102,835,898 (GRCm39)	I30T	possibly damaging	Het
Or5al5	T	C	2: 85,961,414 (GRCm39)	M198V	probably benign	Het
Pan2	G	A	10: 128,151,404 (GRCm39)	E842K	probably benign	Het
Pate11	T	C	9: 36,386,970 (GRCm39)	S13P	possibly damaging	Het
Polr1has	CACCACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCACCAC	17: 37,275,940 (GRCm39)		probably benign	Het
Prex2	A	C	1: 11,255,390 (GRCm39)	D1145A	possibly damaging	Het
Prop1	A	C	11: 50,841,957 (GRCm39)	Y150D	possibly damaging	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,577,464 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,378,735 (GRCm39)	I353M	probably damaging	Het
Rapgef1	C	A	2: 29,597,207 (GRCm39)		probably null	Het
Rgl1	G	A	1: 152,397,114 (GRCm39)	S684L	probably benign	Het
Sbf2	T	A	7: 109,916,215 (GRCm39)	D1552V	probably damaging	Het
Scpppq1	A	C	5: 104,222,725 (GRCm39)		probably null	Het
Serpinh1	C	T	7: 98,995,410 (GRCm39)	V391M	probably damaging	Het
Slc35e4	A	T	11: 3,857,960 (GRCm39)	L215Q	possibly damaging	Het
Tbl3	TCTT	TCTTCTT	17: 24,921,515 (GRCm39)		probably benign	Het
Tex15	T	A	8: 34,066,705 (GRCm39)	M2045K	probably benign	Het
Tmprss15	T	C	16: 78,750,689 (GRCm39)	*1070W	probably null	Het
Trav15-2-dv6-2	GAA	GAACAA	14: 53,887,211 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGAG	GGAGGAG	14: 53,887,208 (GRCm39)		probably benign	Het
Trim33	GCCCCGGCCCCCG	GCCCCG	3: 103,187,528 (GRCm39)		probably null	Het
Tub	C	A	7: 108,621,846 (GRCm39)	Q95K	probably benign	Het
Usp9y	T	A	Y: 1,435,046 (GRCm39)	Q261L	probably benign	Het
Utp20	A	T	10: 88,661,319 (GRCm39)	D29E	probably damaging	Het
Vill	G	A	9: 118,889,507 (GRCm39)	V148M	probably damaging	Het
Vmn2r120	C	T	17: 57,828,991 (GRCm39)	E535K	possibly damaging	Het
Zfp451	A	T	1: 33,815,873 (GRCm39)	Y692*	probably null	Het
Zfp599	A	C	9: 22,165,180 (GRCm39)	V65G	probably benign	Het
Zfp808	T	C	13: 62,319,113 (GRCm39)	V114A	probably benign	Het

Other mutations in Triobp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Triobp	APN	15	78,877,568 (GRCm39)	missense	probably damaging	1.00
IGL01904:Triobp	APN	15	78,851,564 (GRCm39)	missense	possibly damaging	0.80
IGL01957:Triobp	APN	15	78,856,847 (GRCm39)	critical splice donor site	probably null
IGL02085:Triobp	APN	15	78,858,497 (GRCm39)	splice site	probably benign
IGL02260:Triobp	APN	15	78,850,562 (GRCm39)	missense	probably benign	0.00
IGL02498:Triobp	APN	15	78,845,243 (GRCm39)	missense	probably benign	0.01
IGL02551:Triobp	APN	15	78,857,689 (GRCm39)	missense	probably benign
IGL02740:Triobp	APN	15	78,850,889 (GRCm39)	missense	probably benign	0.21
IGL02810:Triobp	APN	15	78,886,403 (GRCm39)	missense	possibly damaging	0.95
IGL03063:Triobp	APN	15	78,875,084 (GRCm39)	missense	probably damaging	1.00
FR4304:Triobp	UTSW	15	78,877,587 (GRCm39)	unclassified	probably benign
FR4340:Triobp	UTSW	15	78,877,590 (GRCm39)	unclassified	probably benign
FR4342:Triobp	UTSW	15	78,877,592 (GRCm39)	unclassified	probably benign
FR4449:Triobp	UTSW	15	78,877,589 (GRCm39)	unclassified	probably benign
FR4548:Triobp	UTSW	15	78,877,590 (GRCm39)	unclassified	probably benign
FR4548:Triobp	UTSW	15	78,877,587 (GRCm39)	unclassified	probably benign
R0276:Triobp	UTSW	15	78,857,876 (GRCm39)	missense	probably benign	0.09
R0309:Triobp	UTSW	15	78,860,740 (GRCm39)	missense	probably damaging	1.00
R0433:Triobp	UTSW	15	78,852,401 (GRCm39)	missense	possibly damaging	0.69
R0464:Triobp	UTSW	15	78,851,186 (GRCm39)	missense	possibly damaging	0.71
R0525:Triobp	UTSW	15	78,858,098 (GRCm39)	missense	possibly damaging	0.93
R0665:Triobp	UTSW	15	78,858,098 (GRCm39)	missense	possibly damaging	0.93
R0689:Triobp	UTSW	15	78,844,188 (GRCm39)	nonsense	probably null
R1149:Triobp	UTSW	15	78,850,679 (GRCm39)	missense	probably benign	0.00
R1149:Triobp	UTSW	15	78,850,679 (GRCm39)	missense	probably benign	0.00
R1151:Triobp	UTSW	15	78,850,679 (GRCm39)	missense	probably benign	0.00
R1152:Triobp	UTSW	15	78,850,679 (GRCm39)	missense	probably benign	0.00
R1510:Triobp	UTSW	15	78,887,967 (GRCm39)	missense	probably damaging	1.00
R1519:Triobp	UTSW	15	78,857,938 (GRCm39)	missense	probably benign	0.00
R1642:Triobp	UTSW	15	78,886,348 (GRCm39)	missense	probably damaging	1.00
R1732:Triobp	UTSW	15	78,851,428 (GRCm39)	missense	possibly damaging	0.69
R1755:Triobp	UTSW	15	78,850,679 (GRCm39)	missense	probably benign	0.00
R1975:Triobp	UTSW	15	78,850,908 (GRCm39)	missense	probably benign
R2051:Triobp	UTSW	15	78,888,740 (GRCm39)	missense	probably damaging	1.00
R2073:Triobp	UTSW	15	78,858,095 (GRCm39)	missense	probably damaging	0.99
R2260:Triobp	UTSW	15	78,875,640 (GRCm39)	critical splice donor site	probably null
R2351:Triobp	UTSW	15	78,888,780 (GRCm39)	missense	probably benign	0.09
R2902:Triobp	UTSW	15	78,857,618 (GRCm39)	missense	possibly damaging	0.90
R3801:Triobp	UTSW	15	78,857,900 (GRCm39)	missense	probably benign	0.04
R3959:Triobp	UTSW	15	78,886,589 (GRCm39)	nonsense	probably null
R4003:Triobp	UTSW	15	78,844,177 (GRCm39)	unclassified	probably benign
R4084:Triobp	UTSW	15	78,857,871 (GRCm39)	missense	probably benign	0.19
R4482:Triobp	UTSW	15	78,850,763 (GRCm39)	missense	possibly damaging	0.87
R4592:Triobp	UTSW	15	78,851,295 (GRCm39)	missense	probably benign
R4662:Triobp	UTSW	15	78,877,469 (GRCm39)	missense	probably damaging	1.00
R4732:Triobp	UTSW	15	78,851,313 (GRCm39)	missense	probably damaging	0.99
R4733:Triobp	UTSW	15	78,851,313 (GRCm39)	missense	probably damaging	0.99
R4789:Triobp	UTSW	15	78,875,228 (GRCm39)	missense	probably damaging	1.00
R4968:Triobp	UTSW	15	78,850,816 (GRCm39)	missense	probably benign	0.03
R4990:Triobp	UTSW	15	78,851,205 (GRCm39)	missense	probably benign	0.00
R5129:Triobp	UTSW	15	78,845,296 (GRCm39)	missense	probably benign	0.15
R5181:Triobp	UTSW	15	78,851,954 (GRCm39)	missense	probably benign	0.00
R5279:Triobp	UTSW	15	78,878,591 (GRCm39)	missense	possibly damaging	0.66
R5584:Triobp	UTSW	15	78,852,332 (GRCm39)	missense	possibly damaging	0.89
R5601:Triobp	UTSW	15	78,857,833 (GRCm39)	missense	probably damaging	1.00
R5810:Triobp	UTSW	15	78,852,467 (GRCm39)	missense	probably benign	0.07
R5969:Triobp	UTSW	15	78,851,740 (GRCm39)	missense	probably benign	0.05
R6722:Triobp	UTSW	15	78,885,765 (GRCm39)	missense	probably damaging	1.00
R6739:Triobp	UTSW	15	78,850,566 (GRCm39)	missense	possibly damaging	0.77
R6810:Triobp	UTSW	15	78,850,815 (GRCm39)	missense	possibly damaging	0.47
R7011:Triobp	UTSW	15	78,862,923 (GRCm39)	missense	probably damaging	0.98
R7015:Triobp	UTSW	15	78,878,260 (GRCm39)	missense	probably damaging	0.99
R7200:Triobp	UTSW	15	78,851,042 (GRCm39)	small deletion	probably benign
R7294:Triobp	UTSW	15	78,858,176 (GRCm39)	missense	probably damaging	0.99
R7688:Triobp	UTSW	15	78,845,311 (GRCm39)	splice site	probably null
R7805:Triobp	UTSW	15	78,858,204 (GRCm39)	missense	probably benign	0.37
R7972:Triobp	UTSW	15	78,852,186 (GRCm39)	missense	probably damaging	1.00
R7977:Triobp	UTSW	15	78,885,744 (GRCm39)	missense	probably damaging	1.00
R7987:Triobp	UTSW	15	78,885,744 (GRCm39)	missense	probably damaging	1.00
R7999:Triobp	UTSW	15	78,844,144 (GRCm39)	missense	probably damaging	0.99
R8344:Triobp	UTSW	15	78,842,475 (GRCm39)	missense	possibly damaging	0.67
R8348:Triobp	UTSW	15	78,878,326 (GRCm39)	missense	possibly damaging	0.85
R8446:Triobp	UTSW	15	78,878,326 (GRCm39)	missense	possibly damaging	0.85
R8448:Triobp	UTSW	15	78,878,326 (GRCm39)	missense	possibly damaging	0.85
R8469:Triobp	UTSW	15	78,851,219 (GRCm39)	missense	probably benign	0.00
R8491:Triobp	UTSW	15	78,878,326 (GRCm39)	missense	possibly damaging	0.85
R8492:Triobp	UTSW	15	78,878,326 (GRCm39)	missense	possibly damaging	0.85
R8493:Triobp	UTSW	15	78,878,326 (GRCm39)	missense	possibly damaging	0.85
R9424:Triobp	UTSW	15	78,844,266 (GRCm39)	missense	probably damaging	1.00
R9495:Triobp	UTSW	15	78,877,378 (GRCm39)	missense	probably damaging	1.00
R9514:Triobp	UTSW	15	78,877,378 (GRCm39)	missense	probably damaging	1.00
R9530:Triobp	UTSW	15	78,886,321 (GRCm39)	missense	probably damaging	1.00
R9550:Triobp	UTSW	15	78,858,077 (GRCm39)	missense	probably damaging	1.00
R9576:Triobp	UTSW	15	78,844,266 (GRCm39)	missense	probably damaging	1.00
R9646:Triobp	UTSW	15	78,887,934 (GRCm39)	missense	probably damaging	1.00
RF001:Triobp	UTSW	15	78,851,227 (GRCm39)	small insertion	probably benign
RF007:Triobp	UTSW	15	78,851,244 (GRCm39)	small insertion	probably benign
RF022:Triobp	UTSW	15	78,858,482 (GRCm39)	missense	probably benign	0.05
RF028:Triobp	UTSW	15	78,851,239 (GRCm39)	small insertion	probably benign
RF032:Triobp	UTSW	15	78,851,236 (GRCm39)	small insertion	probably benign
RF035:Triobp	UTSW	15	78,851,239 (GRCm39)	small insertion	probably benign
RF039:Triobp	UTSW	15	78,851,239 (GRCm39)	small insertion	probably benign
RF039:Triobp	UTSW	15	78,851,236 (GRCm39)	small insertion	probably benign
RF040:Triobp	UTSW	15	78,851,263 (GRCm39)	small insertion	probably benign
RF049:Triobp	UTSW	15	78,851,261 (GRCm39)	small insertion	probably benign
RF051:Triobp	UTSW	15	78,851,234 (GRCm39)	small insertion	probably benign
RF058:Triobp	UTSW	15	78,851,244 (GRCm39)	small insertion	probably benign
X0026:Triobp	UTSW	15	78,844,223 (GRCm39)	missense	possibly damaging	0.94
Z1177:Triobp	UTSW	15	78,886,381 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCCTAGGACTCCCTGTAC -3'
(R):5'- AGATGCTCCCATTTGCTGC -3'

Sequencing Primer
(F):5'- TAGGACTCCCTGTACCCAGAG -3'
(R):5'- TCCCATTTGCTGCAGGAAG -3'

Posted On

2019-12-04