Mutagenetix > Incidental Mutation

Incidental Mutation 'R0470:Trim66'

41796

Institutional Source

Beutler Lab

Gene Symbol

Trim66

Ensembl Gene

ENSMUSG00000031026

Gene Name

tripartite motif-containing 66

Synonyms

Tif1d, D7H11orf29

MMRRC Submission

038670-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R0470 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

109449006-109508134 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 109457542 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102352 (fasta)

Gene Model

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

AlphaFold

Q924W6

Predicted Effect

probably benign
Transcript: ENSMUST00000033339

SMART Domains

Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026

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 benign
Transcript: ENSMUST00000106739

SMART Domains

Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026

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 benign
Transcript: ENSMUST00000106741

SMART Domains

Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026

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

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	C	T	18: 59,075,639	R120C	probably damaging	Het
Ahnak	T	G	19: 9,008,967	D2538E	probably benign	Het
Akr1c13	T	A	13: 4,198,501	L235H	probably damaging	Het
Ank	G	A	15: 27,571,635	C331Y	probably damaging	Het
Ankrd12	T	C	17: 65,986,134	E768G	probably benign	Het
Atm	A	T	9: 53,460,966	V2172E	probably damaging	Het
Atp10b	T	A	11: 43,203,039	L470Q	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Cdadc1	A	T	14: 59,573,841		probably benign	Het
Cfhr2	A	T	1: 139,821,779	V155E	probably damaging	Het
Chp1	C	T	2: 119,560,763	R34C	probably damaging	Het
Cilp2	A	T	8: 69,885,405	V192E	possibly damaging	Het
Cyth1	T	C	11: 118,132,248		probably benign	Het
Dnah8	T	A	17: 30,708,540		probably benign	Het
Gja3	T	C	14: 57,036,427	T163A	probably damaging	Het
Gsdmcl1	C	T	15: 63,850,431		noncoding transcript	Het
Herc6	C	T	6: 57,619,452	T459M	probably damaging	Het
Hexb	A	G	13: 97,177,999	L412P	probably damaging	Het
Il17ra	T	G	6: 120,481,806	D639E	probably benign	Het
Kcnh5	G	A	12: 75,114,414	T240I	probably benign	Het
Lef1	T	C	3: 131,112,826		probably benign	Het
Lilrb4a	T	A	10: 51,494,827	N282K	possibly damaging	Het
Mbnl2	A	T	14: 120,404,650	H342L	probably damaging	Het
Nipal3	A	G	4: 135,447,372	V356A	probably damaging	Het
Olfr441	C	G	6: 43,116,624	A294G	probably null	Het
Olfr640	A	T	7: 104,021,670	I216N	probably damaging	Het
Plekha6	G	A	1: 133,272,307	R208Q	probably benign	Het
Prkar1b	A	G	5: 139,050,749	I82T	probably damaging	Het
Prrc1	C	T	18: 57,363,397	T140M	probably damaging	Het
Psg22	A	C	7: 18,719,664	S95R	probably damaging	Het
Ptk6	T	C	2: 181,195,939	T396A	probably benign	Het
Ptov1	A	G	7: 44,864,811	S9P	probably damaging	Het
Scin	A	C	12: 40,073,292		probably benign	Het
Sec13	T	C	6: 113,740,632		probably benign	Het
Setd1a	G	A	7: 127,785,057		probably benign	Het
Sf3a2	G	A	10: 80,804,554		probably benign	Het
Shmt1	T	C	11: 60,792,963	Y341C	possibly damaging	Het
Slc27a4	T	A	2: 29,804,185	L7Q	probably benign	Het
Slc41a2	T	C	10: 83,316,222	M130V	possibly damaging	Het
Sorcs3	T	C	19: 48,797,517		probably null	Het
Tex24	C	T	8: 27,344,908	R155*	probably null	Het
Tgfb1	T	A	7: 25,687,930		probably benign	Het
Tmc5	A	G	7: 118,639,931	D349G	possibly damaging	Het
Trappc13	C	T	13: 104,161,004	V131I	possibly damaging	Het
Tspoap1	T	C	11: 87,776,162	S1027P	probably damaging	Het
Usp34	C	T	11: 23,436,001	H2143Y	possibly damaging	Het
Vmn1r179	A	C	7: 23,928,393	Y3S	probably benign	Het
Vmn1r231	G	A	17: 20,890,003	Q217*	probably null	Het
Vmn1r62	T	A	7: 5,676,067	L249*	probably null	Het
Vmn1r71	G	C	7: 10,748,092	S223C	possibly damaging	Het
Vmn2r109	T	C	17: 20,552,886	Q491R	probably benign	Het
Vwf	G	A	6: 125,628,428	V925M	possibly damaging	Het
Wisp1	A	G	15: 66,917,378	I238V	probably benign	Het
Zbtb6	A	C	2: 37,429,493	L141W	probably damaging	Het
Zranb1	G	T	7: 132,982,771	L615F	probably damaging	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
IGL02832:Trim66	APN	7	109460497	missense	probably damaging	1.00
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
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
R8855:Trim66	UTSW	7	109481981	missense	probably damaging	1.00
R9130:Trim66	UTSW	7	109477689	missense	possibly damaging	0.90
R9137:Trim66	UTSW	7	109475123	missense	probably damaging	0.99
RF013:Trim66	UTSW	7	109460753	missense	probably damaging	0.99
RF024:Trim66	UTSW	7	109460740	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CAACGAATGGATGCCTACTAGCCAC -3'
(R):5'- TTCTTCCCCAAGGTCAGCCAGAAC -3'

Sequencing Primer
(F):5'- TACTAGCCACAGGCTCGAAAG -3'
(R):5'- GAAAGGTCACTGTCACATCTCTG -3'

Posted On

2013-05-23