Mutagenetix > Incidental Mutation

Incidental Mutation 'R9646:Triobp'

726747

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 #

R9646 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78831924-78890069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78887934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1943 (L1943P)

Ref Sequence

ENSEMBL: ENSMUSP00000105312 (fasta)

Gene Model

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

AlphaFold

Q99KW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000109687
AA Change: L556P

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

SMART Domains

Protein: ENSMUSP00000105309
Gene: ENSMUSG00000033088
AA Change: L556P

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: L1897P

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

SMART Domains

Protein: ENSMUSP00000105311
Gene: ENSMUSG00000033088
AA Change: L1897P

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: L1943P

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

SMART Domains

Protein: ENSMUSP00000105312
Gene: ENSMUSG00000033088
AA Change: L1943P

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

Coding Region Coverage

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,544,926 (GRCm39)	I723N	probably damaging	Het
Agbl1	G	A	7: 76,075,648 (GRCm39)	R682Q	unknown	Het
Ankrd42	A	T	7: 92,273,257 (GRCm39)	D123E	possibly damaging	Het
Anxa4	A	T	6: 86,730,814 (GRCm39)	I121N	probably damaging	Het
Asic1	T	C	15: 99,593,414 (GRCm39)	F257S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cckar	T	C	5: 53,863,608 (GRCm39)	T118A	probably benign	Het
Cfap61	T	A	2: 145,854,152 (GRCm39)	I388N	probably damaging	Het
Chrnd	A	T	1: 87,120,311 (GRCm39)	I156F	probably damaging	Het
Col15a1	T	A	4: 47,257,187 (GRCm39)	L326Q	possibly damaging	Het
Dcpp3	A	T	17: 24,138,156 (GRCm39)	I105L	possibly damaging	Het
Dnaaf5	T	A	5: 139,151,832 (GRCm39)	H494Q	probably benign	Het
Dph5	T	A	3: 115,708,692 (GRCm39)	Y125N	probably damaging	Het
Eif4enif1	T	C	11: 3,170,280 (GRCm39)	V111A	probably damaging	Het
Etl4	T	A	2: 20,802,724 (GRCm39)	I1010K	probably benign	Het
Faf1	T	A	4: 109,652,016 (GRCm39)	W236R	probably damaging	Het
Fat4	A	G	3: 39,035,813 (GRCm39)	D3155G	probably damaging	Het
Fhip2b	T	C	14: 70,827,808 (GRCm39)	H125R	probably damaging	Het
Firrm	A	G	1: 163,822,195 (GRCm39)	V32A	probably damaging	Het
Galnt12	T	C	4: 47,120,390 (GRCm39)	I491T	probably damaging	Het
Gm10553	T	A	1: 85,077,901 (GRCm39)	L6Q	probably damaging	Het
H2-T10	A	T	17: 36,431,157 (GRCm39)	I168N	probably damaging	Het
Hdac9	T	A	12: 34,487,167 (GRCm39)	Q78L	probably damaging	Het
Hmx1	C	T	5: 35,549,400 (GRCm39)	T231M	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Hsd17b13	T	C	5: 104,124,973 (GRCm39)	K70R	probably null	Het
Hykk	C	T	9: 54,853,521 (GRCm39)	T281I	probably benign	Het
Il1r2	A	G	1: 40,162,362 (GRCm39)	D335G	probably damaging	Het
Insig2	A	C	1: 121,240,040 (GRCm39)	L87V	probably damaging	Het
Insrr	A	T	3: 87,721,805 (GRCm39)	Y1193F	probably damaging	Het
Itpr1	A	G	6: 108,371,845 (GRCm39)	Y1173C	probably damaging	Het
Kcnh8	A	G	17: 53,104,573 (GRCm39)	N190S	probably benign	Het
Kntc1	T	C	5: 123,897,119 (GRCm39)	F161L	probably benign	Het
Lilra5	T	C	7: 4,244,907 (GRCm39)	L226P	probably damaging	Het
Muc2	C	T	7: 141,276,643 (GRCm39)	A11V	probably benign	Het
Nrp2	T	C	1: 62,777,566 (GRCm39)	F124L	probably damaging	Het
Or52e4	T	C	7: 104,706,374 (GRCm39)	I307T	probably benign	Het
Or5m11b	T	A	2: 85,806,446 (GRCm39)	N286K	probably benign	Het
Or5w15	T	A	2: 87,568,512 (GRCm39)	D52V	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,114 (GRCm39)	S8T	probably damaging	Het
Pcdhb17	A	T	18: 37,618,471 (GRCm39)	N87I	possibly damaging	Het
Pdgfrb	T	A	18: 61,211,721 (GRCm39)		probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pepd	A	T	7: 34,620,882 (GRCm39)	Q49L	possibly damaging	Het
Pigo	C	A	4: 43,017,967 (GRCm39)	R1083L	probably damaging	Het
Pitpnm1	G	A	19: 4,153,269 (GRCm39)	D142N	probably damaging	Het
Plod1	C	T	4: 148,016,112 (GRCm39)	E93K	probably benign	Het
Pramel11	A	T	4: 143,623,634 (GRCm39)	V180E	probably damaging	Het
Rev3l	T	C	10: 39,698,440 (GRCm39)	I979T	probably damaging	Het
Scrib	C	T	15: 75,932,492 (GRCm39)	G743D	probably damaging	Het
Septin3	T	C	15: 82,170,088 (GRCm39)	S205P	probably benign	Het
Sez6	A	G	11: 77,867,632 (GRCm39)	K850E	probably damaging	Het
Sfxn5	T	A	6: 85,266,195 (GRCm39)	T101S	probably damaging	Het
Slc6a5	A	T	7: 49,567,496 (GRCm39)	K317*	probably null	Het
Sox8	A	T	17: 25,786,871 (GRCm39)	D277E	probably benign	Het
Sptbn2	G	T	19: 4,795,341 (GRCm39)	A1600S	probably damaging	Het
Syne1	A	G	10: 5,179,187 (GRCm39)	V4429A	possibly damaging	Het
Tnrc6b	T	A	15: 80,773,266 (GRCm39)	F1137L	possibly damaging	Het
Trim43a	A	G	9: 88,466,392 (GRCm39)	R238G	probably benign	Het
Vmn1r125	T	C	7: 21,006,261 (GRCm39)	V53A	possibly damaging	Het
Vwa5b1	T	A	4: 138,319,420 (GRCm39)	N412I	probably damaging	Het
Yipf7	T	A	5: 69,678,424 (GRCm39)	T122S	probably benign	Het
Zfp1005	C	T	2: 150,110,104 (GRCm39)	H265Y	probably benign	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
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
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'- TTGATGCTAGCACCTGACC -3'
(R):5'- TACCTTGTCTGTACTGGGGC -3'

Sequencing Primer
(F):5'- ATGCTAGCACCTGACCGTCTAG -3'
(R):5'- CTGTACTGGGGCAGTGGGAG -3'

Posted On

2022-10-06