Mutagenetix > Incidental Mutations

Incidental Mutation 'R1099:Trim66'

97901

Institutional Source

Beutler Lab

Gene Symbol

Trim66

Ensembl Gene

ENSMUSG00000031026

Gene Name

tripartite motif-containing 66

Synonyms

Tif1d, D7H11orf29

MMRRC Submission

039173-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R1099 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109449006-109508134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109475454 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 533 (I533M)

Ref Sequence

ENSEMBL: ENSMUSP00000102352 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033339
AA Change: I431M

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: I431M

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
AA Change: I431M

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: I431M

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
AA Change: I533M

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: I533M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137704

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
Abca7	G	T	10: 80,013,743	E1921*	probably null	Het
Acnat2	G	A	4: 49,380,484	T298I	probably benign	Het
Agbl4	T	C	4: 110,955,663		probably null	Het
Angpt2	T	A	8: 18,699,133	T323S	probably damaging	Het
Ano2	A	G	6: 125,807,847	K299R	probably damaging	Het
Armc2	G	T	10: 41,917,187	Q814K	probably benign	Het
Atp9b	A	C	18: 80,858,626	I263S	probably damaging	Het
Cadps2	A	G	6: 23,599,479	I276T	probably damaging	Het
Casp12	T	A	9: 5,352,204	H135Q	probably benign	Het
Ccdc180	A	G	4: 45,914,225	I621V	probably benign	Het
Cd160	G	A	3: 96,805,840	A36V	probably damaging	Het
Ctcfl	A	T	2: 173,112,360	C315S	probably damaging	Het
Egflam	A	G	15: 7,252,422	V411A	probably benign	Het
Ezh1	T	C	11: 101,193,808		probably null	Het
Fam171a1	T	A	2: 3,225,317	S371T	probably benign	Het
Hspbap1	T	G	16: 35,824,944	F333C	probably damaging	Het
Ky	G	C	9: 102,537,724	W278C	probably damaging	Het
Lrig3	T	A	10: 126,007,014		probably null	Het
Map3k6	A	T	4: 133,247,128	S580C	probably damaging	Het
Mark2	T	C	19: 7,277,425	T219A	probably benign	Het
Mbd5	A	G	2: 49,258,144	I789V	probably benign	Het
Myo18a	T	A	11: 77,818,901		probably null	Het
Nos1	A	G	5: 117,923,395	T929A	probably damaging	Het
Olfr373	T	A	8: 72,100,659	S300T	probably benign	Het
Olfr434	T	C	6: 43,217,624	F237S	probably damaging	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Palmd	T	C	3: 116,923,225	N541S	possibly damaging	Het
Pdzd2	A	G	15: 12,373,087	S2321P	probably damaging	Het
Prdm8	T	G	5: 98,183,502	I71S	probably damaging	Het
Prkg1	A	C	19: 30,571,612	S654R	probably benign	Het
Psmf1	A	T	2: 151,718,670	H260Q	probably damaging	Het
Rp1	A	T	1: 4,352,290	I179N	possibly damaging	Het
Rreb1	A	G	13: 37,948,891	K1681E	probably benign	Het
Rtn1	A	T	12: 72,304,467		probably null	Het
Scaf4	T	A	16: 90,263,098	I37F	unknown	Het
Sema4c	A	G	1: 36,552,110	S383P	probably damaging	Het
Shc4	G	T	2: 125,722,844	D178E	probably benign	Het
Slc2a5	A	G	4: 150,142,179	N366S	probably benign	Het
Slc6a3	A	G	13: 73,567,641	N465S	probably benign	Het
Tbc1d9b	C	A	11: 50,146,308	D261E	probably benign	Het
Tdrd3	A	T	14: 87,487,239	T359S	probably damaging	Het
Thap3	T	C	4: 151,983,331	M97V	probably benign	Het
Thg1l	T	A	11: 45,954,161	Q88L	possibly damaging	Het
Tjp3	T	C	10: 81,273,823	T849A	probably benign	Het
Tomm70a	G	T	16: 57,142,817	D400Y	probably damaging	Het
Trak2	T	C	1: 58,921,841	I177V	probably benign	Het
Ush2a	T	A	1: 188,648,348	Y2285N	probably benign	Het
Ush2a	C	T	1: 188,864,639	P3859S	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
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
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
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'- CTCCTCCAGCTCAAACTTGTGGTG -3'
(R):5'- TCCGACAGCCTTCTGAAATGGTG -3'

Sequencing Primer
(F):5'- GTGGTGCATAATGTCCACATTC -3'
(R):5'- aaatggtgccccaccag -3'

Posted On

2014-01-05