Mutagenetix > Incidental Mutation

Incidental Mutation 'R8855:Trim66'

675247

Institutional Source

Beutler Lab

Gene Symbol

Trim66

Ensembl Gene

ENSMUSG00000031026

Gene Name

tripartite motif-containing 66

Synonyms

Tif1d, D7H11orf29

MMRRC Submission

068736-MU

Accession Numbers

Essential gene?

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

Stock #

R8855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109449006-109508134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 109481981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 244 (H244N)

Ref Sequence

ENSEMBL: ENSMUSP00000102352 (fasta)

Gene Model

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

AlphaFold

Q924W6

Predicted Effect

probably damaging
Transcript: ENSMUST00000033339
AA Change: H142N

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

SMART Domains

Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: H142N

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: H142N

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

SMART Domains

Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: H142N

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: H244N

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

SMART Domains

Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: H244N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 60,007,090	T38I	probably benign	Het
Ace	T	A	11: 105,970,598	L191*	probably null	Het
Ahctf1	G	A	1: 179,786,776	H451Y	probably damaging	Het
Amotl1	C	A	9: 14,555,573		probably null	Het
Angptl6	T	A	9: 20,875,644	Y261F	probably damaging	Het
Arhgap1	G	T	2: 91,669,399	S293I	probably benign	Het
Atg9a	A	C	1: 75,185,223	F560V	probably damaging	Het
B4galnt4	G	A	7: 141,068,575	G668D	possibly damaging	Het
Btaf1	T	A	19: 36,958,501	N230K	probably benign	Het
Ccne1	A	C	7: 38,100,621	H179Q	probably benign	Het
Cdk5rap2	A	T	4: 70,300,650	D623E	probably damaging	Het
Cenpf	C	A	1: 189,653,233	K2283N	probably benign	Het
Clec16a	A	T	16: 10,644,867	D683V	probably damaging	Het
Clvs2	T	C	10: 33,528,404	D272G	probably benign	Het
Cnksr1	A	G	4: 134,232,183	V380A	probably damaging	Het
Col20a1	C	A	2: 181,013,891	P42T		Het
Ddx47	A	G	6: 135,023,393	K451E	probably benign	Het
Dennd4a	G	A	9: 64,912,390	G1761D	probably benign	Het
Dnah11	T	A	12: 118,192,372	H181L	probably benign	Het
Dync1h1	T	C	12: 110,635,899	C2074R	probably damaging	Het
Ell2	A	T	13: 75,769,674	Q574H	probably damaging	Het
Enpp7	A	G	11: 118,988,365	N50S	possibly damaging	Het
Fbp2	T	C	13: 62,841,895	K199R	probably benign	Het
Fetub	A	T	16: 22,939,571	E368V	possibly damaging	Het
Flt1	A	T	5: 147,570,872	D1209E	probably benign	Het
Flt1	A	T	5: 147,681,650	N260K	probably damaging	Het
Fras1	A	G	5: 96,769,606	H3495R		Het
Fsip2	A	G	2: 82,980,177	Q2280R	probably benign	Het
Gja10	A	T	4: 32,601,573	C270*	probably null	Het
Gpld1	A	G	13: 24,986,907	T794A	probably benign	Het
Gsk3b	A	G	16: 38,184,538	Y157C	probably damaging	Het
Gsta2	T	C	9: 78,337,598	K78R	probably damaging	Het
Gtf3a	A	G	5: 146,948,911	D44G	probably benign	Het
Hap1	C	A	11: 100,356,038	G14W	probably damaging	Het
Hcn4	T	A	9: 58,858,104	I623N	unknown	Het
Kank1	T	C	19: 25,411,338	S792P	possibly damaging	Het
Klra5	A	T	6: 129,903,570	W212R	probably damaging	Het
Kmt2d	A	T	15: 98,856,356	L1622Q	unknown	Het
Lipi	T	A	16: 75,558,593	D343V	probably damaging	Het
Lrp6	A	T	6: 134,468,822	N1009K	probably benign	Het
Lrrc39	T	A	3: 116,570,141	I121N	probably damaging	Het
Mamstr	A	T	7: 45,644,979	D419V	probably benign	Het
Map2k7	C	T	8: 4,243,594	T119I	probably damaging	Het
Mov10l1	A	T	15: 89,011,966	D671V	probably benign	Het
Mrps24	A	T	11: 5,704,642	L104Q	probably damaging	Het
Myh1	T	A	11: 67,211,421	L846H	probably damaging	Het
Ndufaf5	T	A	2: 140,183,920	I133N	possibly damaging	Het
Ndufs5	A	G	4: 123,715,862		probably null	Het
Numa1	G	C	7: 101,990,628	D62H	possibly damaging	Het
Olfr1512	A	T	14: 52,372,739	Y105N	probably damaging	Het
Olfr551	G	T	7: 102,588,738	Q2K	probably benign	Het
Olfr596	T	A	7: 103,309,961	I80N	probably damaging	Het
Olfr876	C	G	9: 37,804,413	F167L	probably damaging	Het
Pag1	T	C	3: 9,699,469	K208R	probably benign	Het
Pkd1	T	C	17: 24,573,077	V1246A	probably damaging	Het
Plekhg2	T	C	7: 28,370,101	T144A	probably benign	Het
Plekhm2	A	T	4: 141,634,347	S262T	probably benign	Het
Pramef17	A	T	4: 143,994,335	L12Q	probably damaging	Het
Prpf4	A	G	4: 62,415,998	D230G	probably benign	Het
Rbm15b	C	T	9: 106,886,396	R191Q	probably benign	Het
Sec16a	G	A	2: 26,439,840	T721I	probably benign	Het
Serpinb6c	A	T	13: 33,899,326	I35N	probably damaging	Het
Sgk1	T	G	10: 21,995,827	S181A	probably benign	Het
Slc25a10	T	C	11: 120,494,969	S74P	probably damaging	Het
Slc30a3	C	A	5: 31,087,981	V332F	possibly damaging	Het
Smg1	A	G	7: 118,206,899	S240P	unknown	Het
Snapc4	G	A	2: 26,374,533	R265W	probably damaging	Het
Taar1	C	T	10: 23,921,078	R225C	possibly damaging	Het
Tmem74	A	G	15: 43,866,835	S271P	probably damaging	Het
Trank1	T	C	9: 111,312,221	V127A	unknown	Het
Tshz2	T	A	2: 169,886,505	L1007H	probably damaging	Het
Ttc39c	A	T	18: 12,697,946	S288C	probably benign	Het
Twnk	C	T	19: 45,011,833	Q663*	probably null	Het
Ucn	T	A	5: 31,138,513	Q3L	probably benign	Het
Usp9y	C	T	Y: 1,395,758	R492H	probably damaging	Het
Vars	T	C	17: 35,015,644	S1150P	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zfand1	T	C	3: 10,340,751	D264G	probably benign	Het
Zfp839	A	G	12: 110,868,414	E701G	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
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
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'- GCCACTCTCTCAGAATTAGACCAG -3'
(R):5'- AGGTTTACCCAGACGAAGCC -3'

Sequencing Primer
(F):5'- TAGAGTGTGCATCAAAGTTGCTAC -3'
(R):5'- TTTACCCAGACGAAGCCCAGTTAG -3'

Posted On

2021-07-15