Mutagenetix > Incidental Mutations

Incidental Mutation 'R6543:Trim66'

520934

Institutional Source

Beutler Lab

Gene Symbol

Trim66

Ensembl Gene

ENSMUSG00000031026

Gene Name

tripartite motif-containing 66

Synonyms

Tif1d, D7H11orf29

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109449006-109508134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109475879 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 392 (S392P)

Ref Sequence

ENSEMBL: ENSMUSP00000102352 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033339
AA Change: S290P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: S290P

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: S290P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: S290P

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: S392P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: S392P

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4e1	T	C	2: 127,066,605	V1091A	probably benign	Het
Arhgef11	A	G	3: 87,733,408	N1320D	probably benign	Het
Atl3	T	A	19: 7,510,098	F126Y	probably damaging	Het
Borcs5	C	T	6: 134,710,180	T167M	probably damaging	Het
Creld2	A	G	15: 88,825,278	T331A	probably benign	Het
Cuzd1	A	G	7: 131,309,768	V494A	probably damaging	Het
Dclk1	C	T	3: 55,500,131	P244S	probably damaging	Het
Esyt3	T	C	9: 99,338,772	N126S	possibly damaging	Het
Focad	T	C	4: 88,279,256	S629P	unknown	Het
Gm11236	A	G	4: 73,638,978	E16G	probably damaging	Het
Gm17660	T	C	5: 104,074,875		probably benign	Het
Grip1	T	C	10: 119,985,594	L389P	probably benign	Het
Igkv4-91	A	T	6: 68,768,598	D105E	probably damaging	Het
Il20ra	G	A	10: 19,749,323	A117T	probably damaging	Het
Il6ra	A	G	3: 89,876,863	V367A	probably damaging	Het
Itga8	C	T	2: 12,301,644	V47M	probably damaging	Het
Limk2	T	C	11: 3,350,682	Y220C	probably damaging	Het
Lims1	T	A	10: 58,412,451	C243*	probably null	Het
Man1a	C	A	10: 53,934,981	G435*	probably null	Het
Mtor	T	A	4: 148,545,596	I2250N	probably damaging	Het
N4bp1	G	A	8: 86,861,906	Q135*	probably null	Het
Nbeal2	A	T	9: 110,644,458	D76E	probably benign	Het
Nbn	T	C	4: 15,986,605	S669P	probably benign	Het
Nfrkb	C	T	9: 31,400,985	Q456*	probably null	Het
Olfr803	C	A	10: 129,691,990	G17V	probably benign	Het
Pcnx3	C	T	19: 5,665,247	A1557T	probably benign	Het
Pgd	C	T	4: 149,160,752		probably null	Het
Prokr2	T	A	2: 132,373,899	Q53L	probably benign	Het
Pxmp4	C	A	2: 154,588,059	A137S	possibly damaging	Het
Rasef	C	T	4: 73,780,519		probably benign	Het
Rsg1	T	G	4: 141,217,288	V50G	probably benign	Het
Scrt2	C	T	2: 152,093,143	A72V	probably benign	Het
Sipa1l2	T	C	8: 125,450,362	E1171G	possibly damaging	Het
Slc26a8	T	C	17: 28,638,401	T923A	possibly damaging	Het
Slco1a6	T	C	6: 142,133,146	K141R	probably benign	Het
Slfn5	T	A	11: 82,958,666		probably null	Het
Sympk	A	T	7: 19,036,830	H282L	probably damaging	Het
Tnr	A	G	1: 159,924,107	Y1324C	probably damaging	Het
Topaz1	A	G	9: 122,748,535	N170S	possibly damaging	Het
Trav6-3	T	C	14: 53,428,762	M1T	probably null	Het
Ttn	T	C	2: 76,768,811	T10958A	probably damaging	Het
Ubr7	A	G	12: 102,768,235	K256R	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCATTTCAGAAGGCTGTCGG -3'
(R):5'- GCTCCTGCAAATATCCCTGGAAG -3'

Sequencing Primer
(F):5'- TGTCGGAAACTGTGAGCC -3'
(R):5'- GCAAATATCCCTGGAAGCCTTGTTG -3'

Posted On

2018-06-06