Mutagenetix > Incidental Mutation

Incidental Mutation 'R7294:Triobp'

566637

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

045399-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78831924-78890069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78858176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1259 (A1259V)

Ref Sequence

ENSEMBL: ENSMUSP00000105312 (fasta)

Gene Model

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

AlphaFold

Q99KW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000109689
AA Change: A1259V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105311
Gene: ENSMUSG00000033088
AA Change: A1259V

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: A1259V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105312
Gene: ENSMUSG00000033088
AA Change: A1259V

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: ENSMUST00000229270

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (49/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,650,541 (GRCm39)	Y1216*	probably null	Het
Abca17	G	A	17: 24,539,983 (GRCm39)	T415M	not run	Het
Adam1a	G	T	5: 121,658,068 (GRCm39)	C408*	probably null	Het
Adamts9	G	A	6: 92,871,270 (GRCm39)	T603M	probably damaging	Het
Amdhd1	T	C	10: 93,370,301 (GRCm39)	E179G	probably benign	Het
Bcan	T	C	3: 87,902,831 (GRCm39)	T316A	possibly damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
C5ar1	T	C	7: 15,982,950 (GRCm39)	I23M	probably benign	Het
Cd109	A	T	9: 78,619,917 (GRCm39)	E1386D	probably damaging	Het
Cdcp1	C	T	9: 123,006,986 (GRCm39)	C587Y	probably benign	Het
Cdh22	A	C	2: 164,984,013 (GRCm39)	V413G	possibly damaging	Het
Cfap44	A	G	16: 44,225,256 (GRCm39)		probably benign	Het
Col2a1	A	G	15: 97,885,168 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,756,005 (GRCm39)	Y95N	probably damaging	Het
Dusp13b	A	G	14: 21,783,782 (GRCm39)	S178P	possibly damaging	Het
Fhod3	A	G	18: 25,266,037 (GRCm39)	E1575G	probably damaging	Het
Gfpt2	C	T	11: 49,709,435 (GRCm39)	R209*	probably null	Het
Heg1	T	C	16: 33,546,859 (GRCm39)	S573P	probably damaging	Het
Hinfp	A	G	9: 44,210,567 (GRCm39)	C152R	probably damaging	Het
Hmgcs2	C	T	3: 98,198,211 (GRCm39)	T38I	probably benign	Het
Jakmip1	T	C	5: 37,274,804 (GRCm39)	F441L	possibly damaging	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Kpna4	A	C	3: 68,999,956 (GRCm39)		probably null	Het
Krt15	T	A	11: 100,022,848 (GRCm39)	I456F	possibly damaging	Het
Leprotl1	A	T	8: 34,606,006 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,576,835 (GRCm39)	T42S	possibly damaging	Het
Naa80	T	G	9: 107,460,182 (GRCm39)	F26V	possibly damaging	Het
Nr1h5	T	C	3: 102,852,578 (GRCm39)	T419A	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or4c12	A	C	2: 89,774,068 (GRCm39)	Y130*	probably null	Het
Or52b3	T	A	7: 102,204,160 (GRCm39)	I223N	probably damaging	Het
Pax6	T	A	2: 105,515,246 (GRCm39)	C66*	probably null	Het
Pde10a	A	T	17: 8,975,853 (GRCm39)	N53Y	probably benign	Het
Pdgfra	A	G	5: 75,342,312 (GRCm39)	N711S	probably benign	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Scn3a	A	G	2: 65,302,685 (GRCm39)	S1254P	probably damaging	Het
Slc26a1	G	T	5: 108,821,698 (GRCm39)	R80S	possibly damaging	Het
Slc2a4	T	C	11: 69,836,225 (GRCm39)	D262G	probably benign	Het
Specc1	T	A	11: 62,009,163 (GRCm39)	S226R	probably benign	Het
Srsf4	A	G	4: 131,627,772 (GRCm39)	S289G	unknown	Het
Stil	T	C	4: 114,864,480 (GRCm39)	V127A	probably benign	Het
Syne1	A	T	10: 5,047,483 (GRCm39)		probably null	Het
Tbc1d22a	T	A	15: 86,196,036 (GRCm39)	Y336N	possibly damaging	Het
Tbc1d8	C	T	1: 39,445,843 (GRCm39)	G116E	probably damaging	Het
Thrb	A	G	14: 17,826,963 (GRCm38)		probably benign	Het
Timd5	T	A	11: 46,426,439 (GRCm39)	I182K	probably benign	Het
Tln1	G	T	4: 43,534,399 (GRCm39)	H2253Q	probably benign	Het
Tmem131	A	C	1: 36,893,928 (GRCm39)	N158K	possibly damaging	Het
Toporsl	A	C	4: 52,611,903 (GRCm39)	T599P	probably benign	Het
Tpr	C	T	1: 150,279,638 (GRCm39)	R256C	probably damaging	Het
Zfp40	A	G	17: 23,395,411 (GRCm39)	I392T	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCTCAGAGAACTCCTGGG -3'
(R):5'- AGCCAGAGGTGACGTTTCTG -3'

Sequencing Primer
(F):5'- CCCAGCAGAGTGTTCGTGTG -3'
(R):5'- TGGGCTCTCAGACTGCTGAC -3'

Posted On

2019-06-26