Mutagenetix > Incidental Mutation

Incidental Mutation 'R8423:Trim66'

653306

Institutional Source

Beutler Lab

Gene Symbol

Trim66

Ensembl Gene

ENSMUSG00000031026

Gene Name

tripartite motif-containing 66

Synonyms

Tif1d, D7H11orf29

MMRRC Submission

067899-MU

Accession Numbers

Essential gene?

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

Stock #

R8423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109449006-109508134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109475392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 554 (Q554L)

Ref Sequence

ENSEMBL: ENSMUSP00000102352 (fasta)

Gene Model

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

AlphaFold

Q924W6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033339
AA Change: Q452L

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: Q452L

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

possibly damaging
Transcript: ENSMUST00000106739
AA Change: Q452L

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: Q452L

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

possibly damaging
Transcript: ENSMUST00000106741
AA Change: Q554L

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: Q554L

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: 98.6%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,490,910	D449G	possibly damaging	Het
Ampd1	T	C	3: 103,080,989	S83P	probably benign	Het
Bub1	G	A	2: 127,807,830	L703F	probably benign	Het
C1rb	T	A	6: 124,574,658	D242E	probably damaging	Het
Carf	T	A	1: 60,150,593	L659Q	possibly damaging	Het
Carmil3	A	G	14: 55,499,065	N662S	probably damaging	Het
Ccno	A	G	13: 112,988,144	S83G	possibly damaging	Het
Chd3	A	T	11: 69,354,426	Y1155*	probably null	Het
Clec16a	A	G	16: 10,576,663	E295G	probably benign	Het
Clnk	A	G	5: 38,794,910		probably null	Het
Clvs2	T	C	10: 33,622,859	D25G	possibly damaging	Het
Cnr2	C	T	4: 135,917,516	R302W	probably damaging	Het
Col20a1	A	G	2: 180,998,705	T594A	probably damaging	Het
Dclk3	C	T	9: 111,468,719	R444W	possibly damaging	Het
Dmxl1	T	C	18: 49,865,116	V761A	probably damaging	Het
Dnah7a	C	A	1: 53,472,904	K2999N	possibly damaging	Het
Dusp28	T	C	1: 92,907,184	S44P	probably damaging	Het
Enpep	T	G	3: 129,309,125	N394T	probably damaging	Het
Fam135a	A	T	1: 24,021,917	F1343I	probably damaging	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Fbxo40	A	T	16: 36,970,585	H54Q	probably damaging	Het
Galnt9	A	G	5: 110,596,245	D315G	probably benign	Het
Gbp4	T	A	5: 105,119,934	D482V	probably damaging	Het
Gm17175	T	A	14: 51,571,613	I99F	possibly damaging	Het
Gm340	T	C	19: 41,585,449	I881T	possibly damaging	Het
Heatr4	A	G	12: 83,980,330	F51S	probably benign	Het
Herc1	T	C	9: 66,508,160	S4806P	probably damaging	Het
Hoxc11	G	A	15: 102,954,742	V73I	possibly damaging	Het
Knl1	T	G	2: 119,070,032	I738S	probably damaging	Het
Lipt2	T	C	7: 100,160,243	F179S	probably damaging	Het
Lrrc8b	G	A	5: 105,480,756	V323M	probably damaging	Het
Ltbp1	T	C	17: 75,292,857	S665P	probably benign	Het
Miga1	A	T	3: 152,322,408	D161E	probably benign	Het
Mynn	A	G	3: 30,603,784	T84A	probably benign	Het
Olfr1248	A	T	2: 89,617,987	D68E	probably damaging	Het
Olfr159	T	C	4: 43,770,598	S138G	possibly damaging	Het
Olfr401	T	C	11: 74,121,666	F126L	probably benign	Het
Pik3r3	C	T	4: 116,222,375	S23L	probably benign	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Ralgapa1	A	G	12: 55,659,062	S1892P	probably damaging	Het
Slc6a18	T	A	13: 73,665,574	Q540L	probably benign	Het
Tfap2a	A	T	13: 40,719,230	N323K	possibly damaging	Het
Tgm1	A	T	14: 55,705,643	M580K	probably benign	Het
Tnrc6b	G	A	15: 80,929,418	G1792D	unknown	Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn1r238	G	T	18: 3,123,365	C16*	probably null	Het
Vmn1r6	G	A	6: 57,002,510	M52I	probably benign	Het
Zfp61	A	G	7: 24,292,034	F231L	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
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'- TGACTCAACTGCAGGCTAGG -3'
(R):5'- GAACAGGAGAGTACATCCCAGC -3'

Sequencing Primer
(F):5'- GAGAAGCTCCAAGTCCTTCTG -3'
(R):5'- AGTACATCCCAGCGGCCAG -3'

Posted On

2020-10-20