Mutagenetix > Incidental Mutation

Incidental Mutation 'R6739:Triobp'

530365

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

044857-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6739 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78947724-79005869 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78966366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 240 (L240Q)

Ref Sequence

ENSEMBL: ENSMUSP00000155397 (fasta)

Gene Model

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

AlphaFold

Q99KW3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109689
AA Change: L240Q

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105311
Gene: ENSMUSG00000033088
AA Change: L240Q

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: L240Q

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105312
Gene: ENSMUSG00000033088
AA Change: L240Q

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

possibly damaging
Transcript: ENSMUST00000140228
AA Change: L240Q

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (33/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	C	T	19: 7,421,347 (GRCm38)	R243*	probably null	Het
Adcy9	A	G	16: 4,418,794 (GRCm38)	V14A	probably benign	Het
Ank2	A	T	3: 127,079,994 (GRCm38)	N59K	probably damaging	Het
Ano4	T	C	10: 89,027,252 (GRCm38)	Y286C	probably damaging	Het
Arhgap21	G	A	2: 20,880,732 (GRCm38)	H545Y	possibly damaging	Het
Arid1a	T	A	4: 133,687,626 (GRCm38)	S1152C	unknown	Het
Cfap73	T	C	5: 120,630,193 (GRCm38)	T167A	probably benign	Het
Ctbs	A	T	3: 146,459,499 (GRCm38)		probably null	Het
Dmgdh	T	A	13: 93,720,615 (GRCm38)	N742K	probably benign	Het
Dmxl1	T	C	18: 49,878,246 (GRCm38)	S1157P	probably benign	Het
Dnm3	T	C	1: 162,477,783 (GRCm38)	N14S	probably damaging	Het
Dpp4	C	T	2: 62,387,095 (GRCm38)	V53I	probably benign	Het
Etl4	A	G	2: 20,713,435 (GRCm38)	N329S	probably damaging	Het
Fbxw25	A	G	9: 109,651,631 (GRCm38)	V327A	probably benign	Het
Gsg1	T	A	6: 135,237,614 (GRCm38)	Q299L	probably damaging	Het
Igsf23	A	G	7: 19,944,748 (GRCm38)	L39P	probably damaging	Het
Il17rd	A	G	14: 27,099,531 (GRCm38)	R261G	possibly damaging	Het
Krt75	C	T	15: 101,571,068 (GRCm38)	D276N	probably benign	Het
Lox	T	C	18: 52,526,959 (GRCm38)	T268A	possibly damaging	Het
Mroh4	T	C	15: 74,609,719 (GRCm38)	S825G	probably benign	Het
Nlrp9c	T	C	7: 26,385,425 (GRCm38)	D243G	probably damaging	Het
Olfr1375	T	A	11: 51,048,737 (GRCm38)	V210E	probably damaging	Het
Olfr713	T	C	7: 107,036,811 (GRCm38)	Y219H	probably damaging	Het
Picalm	C	A	7: 90,176,708 (GRCm38)	T131N	probably damaging	Het
Pitpnm1	T	A	19: 4,110,522 (GRCm38)	L781H	probably damaging	Het
Proz	A	T	8: 13,073,451 (GRCm38)	I241F	possibly damaging	Het
Rb1cc1	A	G	1: 6,234,230 (GRCm38)	D67G	probably damaging	Het
Rnf213	T	A	11: 119,442,271 (GRCm38)	C2769S	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909 (GRCm38)		probably benign	Het
Scn8a	T	C	15: 101,015,955 (GRCm38)	I1076T	possibly damaging	Het
Snrnp70	A	T	7: 45,387,419 (GRCm38)	D100E	probably damaging	Het
Vmn2r5	A	G	3: 64,491,216 (GRCm38)	S781P	probably damaging	Het
Zfp451	A	G	1: 33,803,594 (GRCm38)		probably benign	Het

Other mutations in Triobp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Triobp	APN	15	78,993,368 (GRCm38)	missense	probably damaging	1.00
IGL01904:Triobp	APN	15	78,967,364 (GRCm38)	missense	possibly damaging	0.80
IGL01957:Triobp	APN	15	78,972,647 (GRCm38)	critical splice donor site	probably null
IGL02085:Triobp	APN	15	78,974,297 (GRCm38)	splice site	probably benign
IGL02260:Triobp	APN	15	78,966,362 (GRCm38)	missense	probably benign	0.00
IGL02498:Triobp	APN	15	78,961,043 (GRCm38)	missense	probably benign	0.01
IGL02551:Triobp	APN	15	78,973,489 (GRCm38)	missense	probably benign
IGL02740:Triobp	APN	15	78,966,689 (GRCm38)	missense	probably benign	0.21
IGL02810:Triobp	APN	15	79,002,203 (GRCm38)	missense	possibly damaging	0.95
IGL03063:Triobp	APN	15	78,990,884 (GRCm38)	missense	probably damaging	1.00
FR4304:Triobp	UTSW	15	78,993,387 (GRCm38)	unclassified	probably benign
FR4340:Triobp	UTSW	15	78,993,390 (GRCm38)	unclassified	probably benign
FR4342:Triobp	UTSW	15	78,993,392 (GRCm38)	unclassified	probably benign
FR4449:Triobp	UTSW	15	78,993,389 (GRCm38)	unclassified	probably benign
FR4548:Triobp	UTSW	15	78,993,390 (GRCm38)	unclassified	probably benign
FR4548:Triobp	UTSW	15	78,993,387 (GRCm38)	unclassified	probably benign
R0276:Triobp	UTSW	15	78,973,676 (GRCm38)	missense	probably benign	0.09
R0309:Triobp	UTSW	15	78,976,540 (GRCm38)	missense	probably damaging	1.00
R0433:Triobp	UTSW	15	78,968,201 (GRCm38)	missense	possibly damaging	0.69
R0464:Triobp	UTSW	15	78,966,986 (GRCm38)	missense	possibly damaging	0.71
R0525:Triobp	UTSW	15	78,973,898 (GRCm38)	missense	possibly damaging	0.93
R0665:Triobp	UTSW	15	78,973,898 (GRCm38)	missense	possibly damaging	0.93
R0689:Triobp	UTSW	15	78,959,988 (GRCm38)	nonsense	probably null
R1149:Triobp	UTSW	15	78,966,479 (GRCm38)	missense	probably benign	0.00
R1149:Triobp	UTSW	15	78,966,479 (GRCm38)	missense	probably benign	0.00
R1151:Triobp	UTSW	15	78,966,479 (GRCm38)	missense	probably benign	0.00
R1152:Triobp	UTSW	15	78,966,479 (GRCm38)	missense	probably benign	0.00
R1510:Triobp	UTSW	15	79,003,767 (GRCm38)	missense	probably damaging	1.00
R1519:Triobp	UTSW	15	78,973,738 (GRCm38)	missense	probably benign	0.00
R1642:Triobp	UTSW	15	79,002,148 (GRCm38)	missense	probably damaging	1.00
R1732:Triobp	UTSW	15	78,967,228 (GRCm38)	missense	possibly damaging	0.69
R1755:Triobp	UTSW	15	78,966,479 (GRCm38)	missense	probably benign	0.00
R1975:Triobp	UTSW	15	78,966,708 (GRCm38)	missense	probably benign
R2051:Triobp	UTSW	15	79,004,540 (GRCm38)	missense	probably damaging	1.00
R2073:Triobp	UTSW	15	78,973,895 (GRCm38)	missense	probably damaging	0.99
R2260:Triobp	UTSW	15	78,991,440 (GRCm38)	critical splice donor site	probably null
R2351:Triobp	UTSW	15	79,004,580 (GRCm38)	missense	probably benign	0.09
R2902:Triobp	UTSW	15	78,973,418 (GRCm38)	missense	possibly damaging	0.90
R3801:Triobp	UTSW	15	78,973,700 (GRCm38)	missense	probably benign	0.04
R3959:Triobp	UTSW	15	79,002,389 (GRCm38)	nonsense	probably null
R4003:Triobp	UTSW	15	78,959,977 (GRCm38)	unclassified	probably benign
R4084:Triobp	UTSW	15	78,973,671 (GRCm38)	missense	probably benign	0.19
R4482:Triobp	UTSW	15	78,966,563 (GRCm38)	missense	possibly damaging	0.87
R4592:Triobp	UTSW	15	78,967,095 (GRCm38)	missense	probably benign
R4662:Triobp	UTSW	15	78,993,269 (GRCm38)	missense	probably damaging	1.00
R4732:Triobp	UTSW	15	78,967,113 (GRCm38)	missense	probably damaging	0.99
R4733:Triobp	UTSW	15	78,967,113 (GRCm38)	missense	probably damaging	0.99
R4789:Triobp	UTSW	15	78,991,028 (GRCm38)	missense	probably damaging	1.00
R4968:Triobp	UTSW	15	78,966,616 (GRCm38)	missense	probably benign	0.03
R4990:Triobp	UTSW	15	78,967,005 (GRCm38)	missense	probably benign	0.00
R5129:Triobp	UTSW	15	78,961,096 (GRCm38)	missense	probably benign	0.15
R5181:Triobp	UTSW	15	78,967,754 (GRCm38)	missense	probably benign	0.00
R5279:Triobp	UTSW	15	78,994,391 (GRCm38)	missense	possibly damaging	0.66
R5584:Triobp	UTSW	15	78,968,132 (GRCm38)	missense	possibly damaging	0.89
R5601:Triobp	UTSW	15	78,973,633 (GRCm38)	missense	probably damaging	1.00
R5810:Triobp	UTSW	15	78,968,267 (GRCm38)	missense	probably benign	0.07
R5969:Triobp	UTSW	15	78,967,540 (GRCm38)	missense	probably benign	0.05
R6722:Triobp	UTSW	15	79,001,565 (GRCm38)	missense	probably damaging	1.00
R6810:Triobp	UTSW	15	78,966,615 (GRCm38)	missense	possibly damaging	0.47
R7011:Triobp	UTSW	15	78,978,723 (GRCm38)	missense	probably damaging	0.98
R7015:Triobp	UTSW	15	78,994,060 (GRCm38)	missense	probably damaging	0.99
R7200:Triobp	UTSW	15	78,966,842 (GRCm38)	small deletion	probably benign
R7294:Triobp	UTSW	15	78,973,976 (GRCm38)	missense	probably damaging	0.99
R7688:Triobp	UTSW	15	78,961,111 (GRCm38)	splice site	probably null
R7805:Triobp	UTSW	15	78,974,004 (GRCm38)	missense	probably benign	0.37
R7972:Triobp	UTSW	15	78,967,986 (GRCm38)	missense	probably damaging	1.00
R7977:Triobp	UTSW	15	79,001,544 (GRCm38)	missense	probably damaging	1.00
R7987:Triobp	UTSW	15	79,001,544 (GRCm38)	missense	probably damaging	1.00
R7999:Triobp	UTSW	15	78,959,944 (GRCm38)	missense	probably damaging	0.99
R8344:Triobp	UTSW	15	78,958,275 (GRCm38)	missense	possibly damaging	0.67
R8348:Triobp	UTSW	15	78,994,126 (GRCm38)	missense	possibly damaging	0.85
R8446:Triobp	UTSW	15	78,994,126 (GRCm38)	missense	possibly damaging	0.85
R8448:Triobp	UTSW	15	78,994,126 (GRCm38)	missense	possibly damaging	0.85
R8469:Triobp	UTSW	15	78,967,019 (GRCm38)	missense	probably benign	0.00
R8491:Triobp	UTSW	15	78,994,126 (GRCm38)	missense	possibly damaging	0.85
R8492:Triobp	UTSW	15	78,994,126 (GRCm38)	missense	possibly damaging	0.85
R8493:Triobp	UTSW	15	78,994,126 (GRCm38)	missense	possibly damaging	0.85
R9424:Triobp	UTSW	15	78,960,066 (GRCm38)	missense	probably damaging	1.00
R9495:Triobp	UTSW	15	78,993,178 (GRCm38)	missense	probably damaging	1.00
R9514:Triobp	UTSW	15	78,993,178 (GRCm38)	missense	probably damaging	1.00
R9530:Triobp	UTSW	15	79,002,121 (GRCm38)	missense	probably damaging	1.00
R9550:Triobp	UTSW	15	78,973,877 (GRCm38)	missense	probably damaging	1.00
R9576:Triobp	UTSW	15	78,960,066 (GRCm38)	missense	probably damaging	1.00
R9646:Triobp	UTSW	15	79,003,734 (GRCm38)	missense	probably damaging	1.00
RF001:Triobp	UTSW	15	78,967,027 (GRCm38)	small insertion	probably benign
RF005:Triobp	UTSW	15	78,967,061 (GRCm38)	small insertion	probably benign
RF007:Triobp	UTSW	15	78,967,044 (GRCm38)	small insertion	probably benign
RF022:Triobp	UTSW	15	78,974,282 (GRCm38)	missense	probably benign	0.05
RF028:Triobp	UTSW	15	78,967,039 (GRCm38)	small insertion	probably benign
RF032:Triobp	UTSW	15	78,967,036 (GRCm38)	small insertion	probably benign
RF035:Triobp	UTSW	15	78,967,039 (GRCm38)	small insertion	probably benign
RF039:Triobp	UTSW	15	78,967,039 (GRCm38)	small insertion	probably benign
RF039:Triobp	UTSW	15	78,967,036 (GRCm38)	small insertion	probably benign
RF040:Triobp	UTSW	15	78,967,063 (GRCm38)	small insertion	probably benign
RF049:Triobp	UTSW	15	78,967,061 (GRCm38)	small insertion	probably benign
RF051:Triobp	UTSW	15	78,967,034 (GRCm38)	small insertion	probably benign
RF058:Triobp	UTSW	15	78,967,044 (GRCm38)	small insertion	probably benign
X0026:Triobp	UTSW	15	78,960,023 (GRCm38)	missense	possibly damaging	0.94
Z1177:Triobp	UTSW	15	79,002,181 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAACAGACACTGAAGCC -3'
(R):5'- GACATGACTCTGGGAGTGTC -3'

Sequencing Primer
(F):5'- TGGAACAGACACTGAAGCCTATTAG -3'
(R):5'- CGCTGGGATACTCTGGAAG -3'

Posted On

2018-08-01