Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02832:Trim66'

361498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim66

Ensembl Gene

ENSMUSG00000031026

Gene Name

tripartite motif-containing 66

Synonyms

Tif1d, D7H11orf29

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

IGL02832

Quality Score

Status

Chromosome

Chromosomal Location

109449006-109508134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109460497 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 792 (C792Y)

Ref Sequence

ENSEMBL: ENSMUSP00000102350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033339] [ENSMUST00000106739] [ENSMUST00000106741]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033339
AA Change: C792Y

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

SMART Domains

Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: C792Y

Domain	Start	End	E-Value	Type
PHD	4	69	7.77e0	SMART
BBC	108	234	1.61e-39	SMART
low complexity region	318	333	N/A	INTRINSIC
low complexity region	452	486	N/A	INTRINSIC
low complexity region	517	530	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
PHD	998	1041	4.09e-10	SMART
BROMO	1069	1175	8.22e-27	SMART
low complexity region	1185	1199	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106739
AA Change: C792Y

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

SMART Domains

Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: C792Y

Domain	Start	End	E-Value	Type
PHD	4	69	7.77e0	SMART
BBC	108	234	1.61e-39	SMART
low complexity region	318	333	N/A	INTRINSIC
low complexity region	452	486	N/A	INTRINSIC
low complexity region	517	530	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
PHD	998	1041	4.09e-10	SMART
BROMO	1069	1175	8.22e-27	SMART
low complexity region	1185	1199	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106741
AA Change: C894Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: C894Y

Domain	Start	End	E-Value	Type
RING	28	78	2.38e-2	SMART
BBOX	102	140	1.48e0	SMART
PHD	106	171	7.77e0	SMART
RING	107	170	4.38e0	SMART
BBOX	162	203	4.21e-3	SMART
BBC	210	336	1.61e-39	SMART
low complexity region	420	435	N/A	INTRINSIC
low complexity region	554	588	N/A	INTRINSIC
low complexity region	619	632	N/A	INTRINSIC
low complexity region	670	683	N/A	INTRINSIC
PHD	1100	1143	4.09e-10	SMART
BROMO	1171	1277	8.22e-27	SMART
low complexity region	1287	1301	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	G	A	6: 92,807,175	T985M	probably damaging	Het
Alpk1	A	G	3: 127,679,943	S804P	possibly damaging	Het
Ap3b1	A	G	13: 94,528,327	I925V	unknown	Het
Cep135	T	A	5: 76,640,949	S1130T	probably damaging	Het
Cers3	A	T	7: 66,781,825	M183L	probably benign	Het
Col5a1	A	G	2: 27,952,340	E409G	unknown	Het
Cyp4a32	G	T	4: 115,614,621	V410F	probably damaging	Het
Ddx1	G	A	12: 13,227,317	Q528*	probably null	Het
Dio2	G	A	12: 90,729,404		probably benign	Het
Dnah9	G	T	11: 66,040,346	A2008E	probably damaging	Het
Dnajc2	A	G	5: 21,760,410	V457A	probably benign	Het
Dytn	T	C	1: 63,643,373	T372A	probably benign	Het
Fam135a	T	C	1: 24,028,633	I152V	probably benign	Het
Fmnl2	C	T	2: 52,858,249	A36V	possibly damaging	Het
Galnt7	G	A	8: 57,552,497	T234I	probably damaging	Het
Gba	A	C	3: 89,203,502	I6L	probably benign	Het
Gja10	A	G	4: 32,602,147	V79A	probably damaging	Het
Gpd2	T	A	2: 57,338,979	V265E	probably damaging	Het
Gpld1	T	C	13: 24,952,878	Y60H	probably damaging	Het
Heatr9	A	G	11: 83,518,846		probably benign	Het
Hist3h2ba	A	G	11: 58,949,043	K35R	probably benign	Het
Krt75	T	A	15: 101,568,073	D419V	probably benign	Het
Lrig3	A	T	10: 126,007,002	I599F	probably benign	Het
Lrp4	A	G	2: 91,511,580	D1846G	probably damaging	Het
Mamdc2	C	T	19: 23,303,851	A653T	probably damaging	Het
Myo7a	A	T	7: 98,091,020		probably null	Het
Notch2	A	G	3: 98,137,373	D1537G	probably benign	Het
Olfr370	G	A	8: 83,541,471	C109Y	probably damaging	Het
Olfr559	G	T	7: 102,723,651	H280N	probably benign	Het
Olfr608	A	T	7: 103,470,698	I220L	probably benign	Het
Papss1	A	C	3: 131,582,519	D84A	probably damaging	Het
Pcdhb16	T	A	18: 37,478,474	D162E	probably damaging	Het
Rab11fip1	C	T	8: 27,152,812	R653Q	possibly damaging	Het
Rap1gap2	A	T	11: 74,412,455		probably benign	Het
Rasal2	T	C	1: 157,157,207	D990G	probably damaging	Het
Rnf32	T	C	5: 29,205,703		probably null	Het
Rp1	T	C	1: 4,349,713	D392G	probably benign	Het
Scn9a	T	C	2: 66,568,029	D79G	probably damaging	Het
Selenon	A	T	4: 134,540,908	V438D	probably damaging	Het
Slc47a1	G	A	11: 61,363,413	H158Y	probably benign	Het
Slc5a12	A	T	2: 110,640,815	E463D	probably benign	Het
Taf2	C	T	15: 55,016,563	V1126M	probably benign	Het
Tas2r143	G	T	6: 42,400,325	V30L	possibly damaging	Het
Tcea3	G	A	4: 136,268,113	V256M	probably damaging	Het
Thy1	A	G	9: 44,046,814	T80A	probably benign	Het
Tmem9	A	G	1: 136,019,731	N47S	probably damaging	Het
Tmprss11g	T	C	5: 86,497,269	Q101R	probably benign	Het
Tstd2	A	T	4: 46,124,949	M226K	probably damaging	Het
Utrn	G	T	10: 12,738,193	T378K	possibly damaging	Het
Vmn2r23	A	G	6: 123,704,396	I88V	probably benign	Het

Other mutations in Trim66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01539:Trim66	APN	7	109455066	missense	probably benign	0.02
IGL01758:Trim66	APN	7	109486045	critical splice donor site	probably null
IGL01982:Trim66	APN	7	109458763	missense	probably benign	0.00
IGL01983:Trim66	APN	7	109458251	nonsense	probably null
IGL02149:Trim66	APN	7	109460902	missense	possibly damaging	0.66
IGL02392:Trim66	APN	7	109460274	missense	probably benign	0.01
IGL02483:Trim66	APN	7	109477630	splice site	probably benign
IGL02945:Trim66	APN	7	109460176	nonsense	probably null
IGL03085:Trim66	APN	7	109458745	missense	probably benign	0.17
PIT1430001:Trim66	UTSW	7	109475247	missense	probably damaging	0.99
R0326:Trim66	UTSW	7	109460172	missense	probably benign	0.00
R0358:Trim66	UTSW	7	109460176	nonsense	probably null
R0401:Trim66	UTSW	7	109475264	missense	probably damaging	0.98
R0470:Trim66	UTSW	7	109457542	splice site	probably benign
R0568:Trim66	UTSW	7	109460695	missense	probably benign	0.00
R0669:Trim66	UTSW	7	109454992	intron	probably benign
R0980:Trim66	UTSW	7	109455670	missense	probably damaging	1.00
R1015:Trim66	UTSW	7	109455233	missense	probably damaging	1.00
R1078:Trim66	UTSW	7	109472319	missense	probably damaging	1.00
R1099:Trim66	UTSW	7	109475454	missense	probably benign	0.34
R1181:Trim66	UTSW	7	109484577	critical splice donor site	probably null
R1497:Trim66	UTSW	7	109484619	missense	probably benign	0.00
R1583:Trim66	UTSW	7	109455080	missense	probably damaging	1.00
R1843:Trim66	UTSW	7	109475839	missense	probably damaging	0.99
R1998:Trim66	UTSW	7	109484577	critical splice donor site	probably null
R2016:Trim66	UTSW	7	109472232	critical splice donor site	probably null
R2143:Trim66	UTSW	7	109475113	missense	probably damaging	0.98
R2144:Trim66	UTSW	7	109475113	missense	probably damaging	0.98
R2145:Trim66	UTSW	7	109475113	missense	probably damaging	0.98
R3945:Trim66	UTSW	7	109472268	missense	possibly damaging	0.94
R4012:Trim66	UTSW	7	109458131	missense	probably damaging	0.98
R4464:Trim66	UTSW	7	109477690	missense	possibly damaging	0.51
R4473:Trim66	UTSW	7	109481995	missense	probably damaging	1.00
R4729:Trim66	UTSW	7	109456060	critical splice donor site	probably null
R4730:Trim66	UTSW	7	109483069	missense	probably damaging	1.00
R4775:Trim66	UTSW	7	109457589	nonsense	probably null
R4819:Trim66	UTSW	7	109457586	missense	probably damaging	1.00
R5269:Trim66	UTSW	7	109457590	missense	probably benign	0.00
R5557:Trim66	UTSW	7	109483737	missense	probably benign	0.06
R5832:Trim66	UTSW	7	109455202	missense	probably damaging	1.00
R6220:Trim66	UTSW	7	109483093	missense	probably damaging	0.97
R6243:Trim66	UTSW	7	109460274	missense	probably benign	0.01
R6374:Trim66	UTSW	7	109486062	missense	probably benign
R6450:Trim66	UTSW	7	109460738	missense	probably benign	0.09
R6543:Trim66	UTSW	7	109475879	missense	probably benign	0.01
R6788:Trim66	UTSW	7	109477754	missense	probably damaging	1.00
R6842:Trim66	UTSW	7	109460776	missense	probably benign	0.00
R7169:Trim66	UTSW	7	109455121	missense	probably benign	0.25
R7257:Trim66	UTSW	7	109460244	missense	probably damaging	1.00
R7328:Trim66	UTSW	7	109457751	missense	probably damaging	0.99
R7616:Trim66	UTSW	7	109483749	missense	probably damaging	0.99
R8423:Trim66	UTSW	7	109475392	missense	possibly damaging	0.77
RF013:Trim66	UTSW	7	109460753	missense	probably damaging	0.99
RF024:Trim66	UTSW	7	109460740	missense	possibly damaging	0.62

Posted On

2015-12-18