Mutagenetix > Incidental Mutation

Incidental Mutation 'R5969:Triobp'

470767

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

044152-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5969 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78831924-78890069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78851740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 631 (N631K)

Ref Sequence

ENSEMBL: ENSMUSP00000155397 (fasta)

Gene Model

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

AlphaFold

Q99KW3

Predicted Effect

probably benign
Transcript: ENSMUST00000109689
AA Change: N631K

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105311
Gene: ENSMUSG00000033088
AA Change: N631K

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: N631K

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105312
Gene: ENSMUSG00000033088
AA Change: N631K

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: N631K

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,258,999 (GRCm39)	Y19D	probably damaging	Het
Abca13	T	A	11: 9,242,214 (GRCm39)	L1359*	probably null	Het
Ahi1	A	T	10: 20,860,292 (GRCm39)	D671V	probably damaging	Het
Ahnak	T	C	19: 8,993,949 (GRCm39)	S5078P	probably damaging	Het
Ankhd1	A	T	18: 36,733,887 (GRCm39)	T584S	probably damaging	Het
Apba2	T	A	7: 64,394,195 (GRCm39)	L568*	probably null	Het
Cenpn	C	A	8: 117,667,276 (GRCm39)	L300I	probably damaging	Het
Cmya5	A	T	13: 93,226,052 (GRCm39)	L3012Q	possibly damaging	Het
Cnnm1	T	C	19: 43,479,911 (GRCm39)	S819P	probably damaging	Het
Cpa6	A	T	1: 10,559,108 (GRCm39)	S87T	probably benign	Het
Crybg2	T	A	4: 133,803,003 (GRCm39)		probably null	Het
Csmd1	T	A	8: 16,121,367 (GRCm39)	T1777S	probably benign	Het
Csmd3	G	T	15: 47,811,386 (GRCm39)	P1235Q	probably damaging	Het
Cxcr4	T	A	1: 128,517,584 (GRCm39)	N24Y	probably benign	Het
D630003M21Rik	G	T	2: 158,059,628 (GRCm39)	H91N	probably damaging	Het
Ece1	T	C	4: 137,689,051 (GRCm39)		probably null	Het
Edc3	T	C	9: 57,620,711 (GRCm39)	S11P	probably damaging	Het
Eif1ad14	T	C	12: 87,886,248 (GRCm39)	D127G	unknown	Het
Exoc3	G	A	13: 74,320,305 (GRCm39)	Q719*	probably null	Het
Fam13a	A	G	6: 58,942,183 (GRCm39)	M203T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fhip2a	C	T	19: 57,372,555 (GRCm39)	R602*	probably null	Het
Fxyd2	T	A	9: 45,319,628 (GRCm39)	I30N	probably damaging	Het
Gapt	A	G	13: 110,490,480 (GRCm39)	V61A	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Gpr35	T	C	1: 92,910,942 (GRCm39)	V2A	probably damaging	Het
Gtf3c1	A	G	7: 125,244,848 (GRCm39)	S1729P	possibly damaging	Het
Heatr5a	T	C	12: 52,005,823 (GRCm39)	T51A	probably benign	Het
Kat6b	G	A	14: 21,720,860 (GRCm39)	M1737I	probably damaging	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klk10	A	G	7: 43,434,409 (GRCm39)	Y267C	probably damaging	Het
Lgmn	T	C	12: 102,372,086 (GRCm39)	Y98C	probably damaging	Het
Lyst	A	C	13: 13,862,398 (GRCm39)		probably null	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mfng	A	T	15: 78,648,582 (GRCm39)	V165D	possibly damaging	Het
Mto1	A	G	9: 78,360,187 (GRCm39)	E225G	probably damaging	Het
Notch3	C	A	17: 32,372,858 (GRCm39)	C571F	probably damaging	Het
Nup205	C	T	6: 35,154,513 (GRCm39)		probably benign	Het
Or51b6	T	A	7: 103,556,117 (GRCm39)	I157N	probably damaging	Het
P2ry14	T	A	3: 59,022,579 (GRCm39)	I303F	probably damaging	Het
Pcnx3	T	C	19: 5,735,563 (GRCm39)	D421G	probably damaging	Het
Pdlim4	T	C	11: 53,954,482 (GRCm39)	H75R	possibly damaging	Het
Phf21a	A	T	2: 92,051,956 (GRCm39)	H17L	probably damaging	Het
Ppid	T	A	3: 79,505,024 (GRCm39)	N122K	probably damaging	Het
Ppp4r3a	T	C	12: 101,009,838 (GRCm39)	I613V	probably benign	Het
Prcp	C	T	7: 92,566,974 (GRCm39)	P229S	probably benign	Het
Ralgds	T	C	2: 28,432,426 (GRCm39)	V85A	probably damaging	Het
Rgs22	G	A	15: 36,015,782 (GRCm39)	T1034I	probably benign	Het
Slc4a3	T	C	1: 75,526,623 (GRCm39)	V48A	probably damaging	Het
Snx16	A	T	3: 10,503,217 (GRCm39)	M10K	possibly damaging	Het
Svep1	G	A	4: 58,070,977 (GRCm39)	Q2270*	probably null	Het
Tmem185b	T	G	1: 119,455,193 (GRCm39)	I318S	probably benign	Het
Tnik	C	T	3: 28,675,097 (GRCm39)	R657C	probably damaging	Het
Top3b	T	C	16: 16,701,429 (GRCm39)		probably null	Het
Trim40	C	T	17: 37,193,319 (GRCm39)	R203H	probably benign	Het
Ubr3	T	G	2: 69,809,730 (GRCm39)	Y1233*	probably null	Het
Vgll3	A	G	16: 65,636,449 (GRCm39)	D200G	probably damaging	Het
Vmn2r24	G	A	6: 123,755,981 (GRCm39)	E18K	probably benign	Het
Zfp141	C	A	7: 42,138,912 (GRCm39)	R40L	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAAAGATATCCCTTGGGCTTCC -3'
(R):5'- CGATTCACTCTCAGACGAGC -3'

Sequencing Primer
(F):5'- AAAGATATCCCTTGGGCTTCCTTTCC -3'
(R):5'- TCTCAGACGAGCGGGGATC -3'

Posted On

2017-03-31