Mutagenetix > Incidental Mutation

Incidental Mutation 'R9495:Triobp'

717184

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9495 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78947724-79005869 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78993178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1637 (R1637C)

Ref Sequence

ENSEMBL: ENSMUSP00000105312 (fasta)

Gene Model

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

AlphaFold

Q99KW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000109687
AA Change: R250C

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

SMART Domains

Protein: ENSMUSP00000105309
Gene: ENSMUSG00000033088
AA Change: R250C

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

probably damaging
Transcript: ENSMUST00000109689
AA Change: R1591C

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

SMART Domains

Protein: ENSMUSP00000105311
Gene: ENSMUSG00000033088
AA Change: R1591C

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 damaging
Transcript: ENSMUST00000109690
AA Change: R1637C

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

SMART Domains

Protein: ENSMUSP00000105312
Gene: ENSMUSG00000033088
AA Change: R1637C

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

SMART Domains

Protein: ENSMUSP00000122988
Gene: ENSMUSG00000033088
AA Change: R245C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	C	T	8: 45,956,421	S287N	probably damaging	Het
1700088E04Rik	T	A	15: 79,135,642	D158V	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Acp5	G	A	9: 22,127,187	Q273*	probably null	Het
Apoa5	G	C	9: 46,270,646	R340P	probably damaging	Het
Atp2b1	T	A	10: 98,999,798	N468K	probably damaging	Het
Bphl	A	T	13: 34,050,329	I143L	probably benign	Het
C130079G13Rik	T	C	3: 59,932,693	I62T	possibly damaging	Het
Ccdc58	A	G	16: 36,072,121	E12G	probably benign	Het
Cd33	A	T	7: 43,532,726	H98Q	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Colec10	A	G	15: 54,462,365	D197G	probably damaging	Het
Cpt1a	T	C	19: 3,383,795	M759T	probably benign	Het
Ctc1	A	G	11: 69,022,767	Y165C	probably damaging	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Dnah2	T	C	11: 69,454,382	D2667G	possibly damaging	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
Erv3	C	A	2: 131,856,055	W128L	possibly damaging	Het
Fam186a	A	G	15: 99,946,885	S493P	unknown	Het
Fbn1	A	T	2: 125,319,064	N2185K	probably damaging	Het
Figla	A	C	6: 86,020,707	H139P	probably benign	Het
Gemin4	A	G	11: 76,210,923	L1004P	probably damaging	Het
Gm11937	T	C	11: 99,609,820	T124A	unknown	Het
Gm17669	G	T	18: 67,562,612	V76L	probably benign	Het
Gm8765	T	A	13: 50,701,429	S368T	possibly damaging	Het
Hcls1	A	T	16: 36,957,340	M274L	probably benign	Het
Hist2h2ab	A	G	3: 96,220,085	E57G	probably damaging	Het
Il17rc	T	C	6: 113,472,780	S116P	probably damaging	Het
Krt79	G	A	15: 101,931,853	R303C	probably damaging	Het
Lamb2	C	T	9: 108,480,807	T149I	probably damaging	Het
Lrrc41	T	A	4: 116,075,609		probably null	Het
Mga	C	A	2: 119,951,195	T2234K	possibly damaging	Het
Muc6	T	A	7: 141,651,133	Q205L	probably damaging	Het
Nlrp9b	A	T	7: 20,026,537	K624N	possibly damaging	Het
Olfr463	C	T	11: 87,893,256	V223M	probably benign	Het
Olfr49	T	C	14: 54,282,680	T72A	probably damaging	Het
Olfr99	G	T	17: 37,280,495		probably benign	Het
Otud4	T	C	8: 79,673,458	S934P	probably damaging	Het
Pcdha12	G	T	18: 37,022,473	W748C	probably damaging	Het
Pdc	T	C	1: 150,333,168	I134T	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Pkn1	C	T	8: 83,684,170	R276Q	possibly damaging	Het
Plin3	C	A	17: 56,280,824	G297V	probably benign	Het
Podn	C	T	4: 108,018,909	V517I	probably benign	Het
Pomk	T	C	8: 25,983,316	D203G	probably damaging	Het
Ppil4	A	G	10: 7,799,591	D168G	probably damaging	Het
Ptgr2	T	C	12: 84,307,873	I276T	probably benign	Het
Ptk7	T	A	17: 46,576,818	I563F	possibly damaging	Het
Rbm12	G	T	2: 156,097,818	T178K	unknown	Het
Sctr	T	C	1: 120,031,673		probably null	Het
Sh2b1	GGGACC	GGGACCGGCTCAGCCACGTGGACC	7: 126,467,572		probably benign	Het
Steap1	A	T	5: 5,736,458	D326E	probably damaging	Het
Stra6	G	A	9: 58,151,892	V513I	probably benign	Het
Tbx19	A	G	1: 165,138,977	S443P	unknown	Het
Tcea3	T	A	4: 136,264,574	C190S	probably damaging	Het
Tfr2	G	A	5: 137,574,439	V171I	probably benign	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,657,778	V17A	probably benign	Het
Tmem2	T	A	19: 21,801,885	V353D	probably damaging	Het
Tmem87b	T	C	2: 128,818,433	L32P	probably damaging	Het
Tor1aip1	T	A	1: 156,030,431	D205V	probably damaging	Het
Trim33	T	C	3: 103,331,758	V684A	probably benign	Het
Uhrf1bp1	A	G	17: 27,893,440	D1201G	probably damaging	Het
Ulbp1	C	A	10: 7,456,371	M196I	probably benign	Het
Vash1	G	A	12: 86,691,889	G370E	probably damaging	Het
Vmn2r23	A	G	6: 123,712,713	T183A	probably benign	Het
Vta1	A	G	10: 14,655,839	I264T	probably benign	Het
Zcchc8	A	T	5: 123,700,570	M635K	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
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
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'- AACACGCTGCATGGCTATGG -3'
(R):5'- AGTGGCACTCGCTTGTTCTC -3'

Sequencing Primer
(F):5'- CGGACAGGCTCTGAGGTTATC -3'
(R):5'- ACTCGCTTGTTCTCCCGCAG -3'

Posted On

2022-07-18