Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02498:Triobp'

295919

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02498

Quality Score

Status

Chromosome

Chromosomal Location

78831924-78890069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78845243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 195 (D195G)

Ref Sequence

ENSEMBL: ENSMUSP00000155397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109689] [ENSMUST00000109690] [ENSMUST00000140228] [ENSMUST00000229943]

AlphaFold

Q99KW3

Predicted Effect

probably benign
Transcript: ENSMUST00000109689
AA Change: D195G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000105311
Gene: ENSMUSG00000033088
AA Change: D195G

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
AA Change: D195G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000105312
Gene: ENSMUSG00000033088
AA Change: D195G

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
AA Change: D195G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000229943

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abcc9	A	T	6: 142,617,265 (GRCm39)		probably null	Het
Abcg8	T	C	17: 84,990,693 (GRCm39)	W12R	probably benign	Het
Ablim1	A	T	19: 57,140,751 (GRCm39)	C155*	probably null	Het
Adam33	A	G	2: 130,895,157 (GRCm39)	C658R	probably damaging	Het
Adamts2	A	G	11: 50,664,135 (GRCm39)	H357R	possibly damaging	Het
Adamts2	G	T	11: 50,668,023 (GRCm39)	K528N	probably damaging	Het
Arhgef12	G	A	9: 42,893,339 (GRCm39)	P955S	probably benign	Het
Atp2b2	T	A	6: 113,770,815 (GRCm39)	I365F	probably damaging	Het
AW112010	T	C	19: 11,025,701 (GRCm39)		noncoding transcript	Het
AY358078	T	C	14: 52,040,944 (GRCm39)	S88P	probably benign	Het
Cdc42bpg	T	C	19: 6,372,823 (GRCm39)	L1504S	probably benign	Het
Cracdl	T	C	1: 37,662,926 (GRCm39)	T991A	probably benign	Het
Dgkg	T	A	16: 22,367,441 (GRCm39)	H593L	probably damaging	Het
Gm10463	T	C	5: 32,288,742 (GRCm39)		probably benign	Het
Grm1	A	T	10: 10,595,723 (GRCm39)	L635Q	probably damaging	Het
Herc4	T	C	10: 63,109,244 (GRCm39)	C160R	probably benign	Het
Hs6st1	G	A	1: 36,142,821 (GRCm39)	R252H	probably damaging	Het
Litaf	A	G	16: 10,784,423 (GRCm39)	V29A	possibly damaging	Het
Lmo7	G	A	14: 102,044,918 (GRCm39)	V57I	probably benign	Het
Loxl4	A	T	19: 42,593,412 (GRCm39)	L253Q	probably benign	Het
Mon2	C	T	10: 122,870,235 (GRCm39)	V458I	probably benign	Het
Ncstn	G	T	1: 171,896,159 (GRCm39)	F506L	probably benign	Het
Nedd8	T	A	14: 55,901,273 (GRCm39)	D21V	probably damaging	Het
Oas1c	T	C	5: 120,943,591 (GRCm39)	T183A	possibly damaging	Het
Pcsk5	A	T	19: 17,488,920 (GRCm39)	Y967N	probably damaging	Het
Phf2	A	G	13: 48,958,715 (GRCm39)	S936P	unknown	Het
Pkd1	T	C	17: 24,804,753 (GRCm39)	I3159T	possibly damaging	Het
Prrt3	C	A	6: 113,474,788 (GRCm39)	V145F	possibly damaging	Het
Prx	T	A	7: 27,217,497 (GRCm39)	V666E	probably damaging	Het
Rapgef2	C	T	3: 78,974,060 (GRCm39)	V1577M	probably damaging	Het
Sesn3	T	C	9: 14,217,564 (GRCm39)		probably benign	Het
Shoc2	T	A	19: 54,016,207 (GRCm39)	L407*	probably null	Het
Slc6a12	A	G	6: 121,338,029 (GRCm39)	M435V	probably benign	Het
Smarcc1	C	T	9: 110,020,002 (GRCm39)	T623I	probably damaging	Het
Snx14	A	G	9: 88,289,517 (GRCm39)	L245S	probably damaging	Het
Son	T	A	16: 91,453,713 (GRCm39)	M820K	probably damaging	Het
Sorcs1	T	C	19: 50,666,606 (GRCm39)	T101A	probably benign	Het
Stoml2	C	A	4: 43,031,045 (GRCm39)	V37L	probably benign	Het
Syde2	T	A	3: 145,704,444 (GRCm39)	H465Q	probably benign	Het
Tmem164	T	A	X: 141,589,044 (GRCm39)	V40D	possibly damaging	Het
Trim37	A	G	11: 87,075,876 (GRCm39)	E494G	probably benign	Het
Unc79	G	A	12: 103,137,837 (GRCm39)	V2427M	probably damaging	Het
Usp27x	T	C	X: 7,239,780 (GRCm39)		probably benign	Het
Vmn2r113	T	A	17: 23,177,349 (GRCm39)	V711D	probably damaging	Het
Zfp940	T	C	7: 29,546,376 (GRCm39)	T7A	probably damaging	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
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
RF005:Triobp	UTSW	15	78,851,261 (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

Posted On

2015-04-16