Mutagenetix > Incidental Mutation

Incidental Mutation 'R1998:Trim66'

224556

Institutional Source

Beutler Lab

Gene Symbol

Trim66

Ensembl Gene

ENSMUSG00000031026

Gene Name

tripartite motif-containing 66

Synonyms

Tif1d, D7H11orf29

MMRRC Submission

040008-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R1998 (G1)

Quality Score

122

Status

Not validated

Chromosome

Chromosomal Location

109449006-109508134 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 109484577 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 null
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 null
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 null
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

Meta Mutation Damage Score

0.9492

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	G	5: 87,970,694	N12K	probably damaging	Het
2700049A03Rik	T	A	12: 71,188,619	S1114R	possibly damaging	Het
4931409K22Rik	G	A	5: 24,545,006	R680C	probably benign	Het
Acot1	T	A	12: 84,009,753	W82R	probably damaging	Het
Adam22	T	C	5: 8,329,995	D101G	probably damaging	Het
Adcy9	T	C	16: 4,297,412	D705G	probably benign	Het
Adgrg3	T	G	8: 95,036,668	L244V	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585		probably null	Het
Brinp1	C	T	4: 68,762,553	G580E	probably damaging	Het
Brwd1	G	A	16: 96,021,288	T1239M	probably damaging	Het
Camk1d	A	T	2: 5,362,025	Y126*	probably null	Het
Camta1	T	C	4: 151,077,880	Y1560C	probably damaging	Het
Cbfa2t2	T	A	2: 154,504,789	L139M	probably damaging	Het
Cd226	T	C	18: 89,207,219	V80A	probably damaging	Het
Dgka	C	T	10: 128,729,939	V367I	probably benign	Het
Dnajb13	A	T	7: 100,504,610	I206N	probably benign	Het
Dst	A	T	1: 34,256,347	Q5693L	probably damaging	Het
Ear6	T	A	14: 51,854,215	I73N	probably benign	Het
Egr1	A	G	18: 34,861,534	I16V	probably benign	Het
Eif2s1	T	A	12: 78,866,734	C70S	possibly damaging	Het
Epcam	T	C	17: 87,640,474	V124A	probably damaging	Het
Erbb2	T	A	11: 98,428,953	C624S	probably damaging	Het
Fam135b	T	A	15: 71,452,404	H1238L	probably damaging	Het
Fam90a1a	A	G	8: 21,963,697	D356G	probably benign	Het
Fbrsl1	G	A	5: 110,376,439	S127L	probably benign	Het
Fndc3c1	C	T	X: 106,420,705	E1276K	probably benign	Het
Gbe1	A	T	16: 70,569,041	N702I	probably damaging	Het
Gm10643	A	T	8: 84,064,424	C20*	probably null	Het
Gpr156	A	G	16: 37,997,908	N322S	possibly damaging	Het
Gsdma	T	A	11: 98,673,694	I333N	probably damaging	Het
Gstm1	A	G	3: 108,014,811	F170S	probably damaging	Het
Hgsnat	C	T	8: 25,945,252	W618*	probably null	Het
Htr5a	G	A	5: 27,850,889	V293M	possibly damaging	Het
Hyal4	A	G	6: 24,756,311	E176G	probably benign	Het
Jag1	T	C	2: 137,090,938	D546G	probably damaging	Het
Kbtbd3	A	G	9: 4,330,760	E378G	probably benign	Het
Lipo4	A	G	19: 33,514,301	V94A	probably damaging	Het
Magea10	A	T	X: 72,382,773	I205K	probably benign	Het
Manea	A	G	4: 26,327,871	L390P	probably damaging	Het
Mars	T	A	10: 127,300,478	K493*	probably null	Het
Mars	T	C	10: 127,302,871	I439V	probably benign	Het
Mboat2	A	G	12: 24,946,673	D225G	possibly damaging	Het
Mcmbp	T	A	7: 128,709,163	E350V	probably damaging	Het
Mki67	A	G	7: 135,705,770	M459T	probably benign	Het
Mlf1	G	A	3: 67,395,291	G150R	probably damaging	Het
Mtmr14	A	G	6: 113,277,924	D294G	probably null	Het
Nlrp4e	A	C	7: 23,321,246	Y386S	probably benign	Het
Nomo1	A	G	7: 46,033,944	D38G	possibly damaging	Het
Nudcd2	T	C	11: 40,734,017	W18R	probably damaging	Het
Olfr1140	T	C	2: 87,746,972	Y259H	probably damaging	Het
Olfr1155	G	A	2: 87,943,146	L161F	probably benign	Het
Olfr401	A	G	11: 74,121,580	Y97C	probably benign	Het
Olfr677	G	T	7: 105,056,905	V220L	probably benign	Het
Olfr742	T	A	14: 50,515,356	C51S	probably benign	Het
Pcnx2	A	T	8: 125,887,143	V523D	probably damaging	Het
Pkd1	T	C	17: 24,573,014	V1225A	probably damaging	Het
Plekhh2	T	A	17: 84,606,877	L1236Q	possibly damaging	Het
Ppp2r1b	A	G	9: 50,883,585	D570G	probably damaging	Het
Prrc2c	T	A	1: 162,704,918		probably benign	Het
Rai14	C	T	15: 10,594,981		probably null	Het
Rap1gap2	A	G	11: 74,395,833	L547P	probably benign	Het
Rims3	A	T	4: 120,891,358	M259L	probably benign	Het
Rsbn1l	G	A	5: 20,902,370	H549Y	probably damaging	Het
Sart3	A	C	5: 113,747,921		probably null	Het
Scn7a	C	A	2: 66,683,269	G1156C	probably damaging	Het
Sh3rf2	T	A	18: 42,141,083	V406D	probably damaging	Het
Slitrk6	T	C	14: 110,751,823	I151V	probably damaging	Het
Smarca2	A	T	19: 26,631,093	Q260L	probably benign	Het
Smco1	A	G	16: 32,273,840	R110G	probably damaging	Het
Spef2	T	A	15: 9,668,903		probably null	Het
Stab1	T	A	14: 31,162,153	K219*	probably null	Het
Sulf1	G	T	1: 12,858,834	E869*	probably null	Het
Susd1	T	C	4: 59,349,925	I504V	probably benign	Het
Szt2	A	G	4: 118,375,727		probably null	Het
Tas1r3	A	T	4: 155,862,920	C103S	probably damaging	Het
Thg1l	C	A	11: 45,950,203	W243L	possibly damaging	Het
Tlr4	A	T	4: 66,840,470	D500V	probably damaging	Het
Tmem72	A	G	6: 116,716,564	V5A	probably benign	Het
Tns4	T	G	11: 99,085,703	M131L	probably benign	Het
Ttll6	T	A	11: 96,139,775		probably null	Het
Ttn	A	T	2: 76,969,703	I387N	probably damaging	Het
Ubqln5	T	A	7: 104,128,741	Q292L	probably damaging	Het
Vmn1r74	G	T	7: 11,847,375	V201F	probably damaging	Het
Vmn2r28	G	T	7: 5,488,314	D311E	possibly damaging	Het
Vtn	T	A	11: 78,499,716	V67E	probably damaging	Het
Xirp2	T	A	2: 67,509,049	F545I	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
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
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
R9640:Trim66	UTSW	7	109475618	missense	probably damaging	1.00
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'- TCTGTGATTCAAGACCACACTCC -3'
(R):5'- TGGTCACAGGTCACCAATTTTG -3'

Sequencing Primer
(F):5'- GCACCAGCTCACCCACATTTC -3'
(R):5'- GGACTCTCTGCTTCCAGAACTG -3'

Posted On

2014-08-25