Mutagenetix > Incidental Mutation

Incidental Mutation 'R7999:Triobp'

616294

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 #

R7999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78947724-79005869 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78959944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 120 (L120P)

Ref Sequence

ENSEMBL: ENSMUSP00000105312 (fasta)

Gene Model

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

AlphaFold

Q99KW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000109689
AA Change: L120P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105311
Gene: ENSMUSG00000033088
AA Change: L120P

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: L120P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105312
Gene: ENSMUSG00000033088
AA Change: L120P

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 damaging
Transcript: ENSMUST00000140228
AA Change: L120P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000229943

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,737,452	V753L	probably benign	Het
Ahi1	A	G	10: 20,965,681	E289G	probably benign	Het
AI481877	G	C	4: 59,094,162	F187L	probably benign	Het
Armc2	C	T	10: 42,011,958	E10K	possibly damaging	Het
Aspscr1	T	C	11: 120,678,522		probably null	Het
B3galnt1	A	G	3: 69,575,215	C238R	probably damaging	Het
Bak1	A	G	17: 27,021,306	L129P	probably damaging	Het
Bdp1	A	G	13: 100,058,896	F1272L	possibly damaging	Het
C2cd3	G	A	7: 100,459,889		probably null	Het
Cacna1b	A	T	2: 24,650,626	V1363E	probably damaging	Het
Capn11	T	C	17: 45,639,206	N344S	probably damaging	Het
Ces1f	A	T	8: 93,262,995	V431E	possibly damaging	Het
Cog3	G	T	14: 75,747,093	S94Y	possibly damaging	Het
Defa29	A	T	8: 21,326,843	S45T	probably benign	Het
Dnah10	A	G	5: 124,725,258	D32G	probably benign	Het
Dnajc24	T	A	2: 105,981,020	N70I	probably damaging	Het
Duox2	C	T	2: 122,283,467	V1195I	probably benign	Het
E430018J23Rik	T	A	7: 127,392,428	S117C	probably damaging	Het
Enam	A	T	5: 88,503,702	R1023S	probably benign	Het
Ephx4	A	T	5: 107,419,833	Q219L	probably damaging	Het
Eppk1	T	C	15: 76,109,004	T1226A	probably benign	Het
Eppk1	T	C	15: 76,109,135	Q1182R	probably benign	Het
Fiz1	A	T	7: 5,008,998	S174T	probably benign	Het
Ggnbp1	C	T	17: 27,029,645	R63C	probably benign	Het
Gmcl1	G	T	6: 86,721,426	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gsdmd	T	A	15: 75,863,446	I13N	probably damaging	Het
Gtpbp4	T	C	13: 8,987,286	D292G	probably damaging	Het
Hnf1a	A	T	5: 114,960,174	L123*	probably null	Het
Ints11	A	G	4: 155,886,956	D309G	probably benign	Het
Ints5	T	C	19: 8,897,043	S789P	probably benign	Het
Jakmip2	G	A	18: 43,563,333	A517V	probably benign	Het
Kat7	A	G	11: 95,284,109	Y270H	probably damaging	Het
Kmt2b	A	G	7: 30,576,774	S1767P	probably damaging	Het
Lonp2	A	G	8: 86,634,909	D238G	probably benign	Het
Lrfn3	A	G	7: 30,360,024	W259R	probably damaging	Het
Mmrn2	G	A	14: 34,397,922	D250N	probably benign	Het
Mre11a	A	T	9: 14,799,669	R49*	probably null	Het
Mug1	T	C	6: 121,880,896	L1116P	possibly damaging	Het
Mup9	A	G	4: 60,418,203	S234P	probably benign	Het
Nlrp9c	A	G	7: 26,385,489	F222L	possibly damaging	Het
Nr2e3	A	G	9: 59,948,999	V85A	probably damaging	Het
Olfr1252	A	G	2: 89,722,000	I37T	probably benign	Het
Prl3d2	A	G	13: 27,123,966	T77A	probably benign	Het
Prpsap1	A	T	11: 116,490,216	M1K	probably null	Het
Prrc2b	C	T	2: 32,194,414	T297M	probably damaging	Het
Rasa3	A	G	8: 13,631,805	F48S	probably benign	Het
Rbm24	A	T	13: 46,419,031	M1L	possibly damaging	Het
Ren1	C	A	1: 133,354,866	T103K	probably damaging	Het
Rpf2	C	T	10: 40,223,884	G260S	probably damaging	Het
Sall4	C	T	2: 168,752,641	G862D	probably damaging	Het
Samd4	G	T	14: 47,064,247	R336L	probably damaging	Het
Siglec1	T	C	2: 131,071,163	N1611S	probably benign	Het
Skil	A	G	3: 31,097,602	H91R	possibly damaging	Het
Snip1	T	C	4: 125,071,381	V193A	probably benign	Het
Sp2	A	T	11: 96,961,837	I87N	probably damaging	Het
Syna	T	C	5: 134,559,192	H301R	probably benign	Het
Tdg	A	G	10: 82,641,382	K89R	possibly damaging	Het
Tdrd7	G	A	4: 46,010,902		probably null	Het
Trak1	G	A	9: 121,460,425	R601H	probably damaging	Het
Utp20	A	T	10: 88,770,388	N1697K	probably benign	Het
Uts2r	G	A	11: 121,160,669	V120M	possibly damaging	Het
Vmn2r59	A	G	7: 42,046,832	L162P	probably damaging	Het
Zbtb17	G	A	4: 141,461,823	R18Q	probably damaging	Het
Zfp551	A	T	7: 12,417,211	C90*	probably null	Het
Zfp605	T	A	5: 110,128,434	C473S	probably damaging	Het
Zfp975	A	T	7: 42,662,932	Y86N	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
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'- TGAACACGCCCACATGTAGTAC -3'
(R):5'- TGAAAAGCTCAGCCTTCCTC -3'

Sequencing Primer
(F):5'- ACATGTAGTACCCGGGTGG -3'
(R):5'- CTGAGGACAGCAGGTGACC -3'

Posted On

2020-01-23