Mutagenetix > Incidental Mutation

Incidental Mutation 'R1458:Trim46'

161856

Institutional Source

Beutler Lab

Gene Symbol

Trim46

Ensembl Gene

ENSMUSG00000042766

Gene Name

tripartite motif-containing 46

Synonyms

TRIFIC

MMRRC Submission

039513-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.695) question?

Stock #

R1458 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

89141484-89153616 bp(-) (GRCm39)

Type of Mutation

splice site (1687 bp from exon)

DNA Base Change (assembly)

A to T at 89142375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041022] [ENSMUST00000041142] [ENSMUST00000090924] [ENSMUST00000107464] [ENSMUST00000143637]

AlphaFold

Q7TNM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041022
AA Change: F704Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
AA Change: F704Y

Domain	Start	End	E-Value	Type
RING	33	133	1.92e-6	SMART
BBOX	222	263	9.59e-7	SMART
Blast:BBC	271	395	3e-13	BLAST
FN3	430	515	2.03e-2	SMART
low complexity region	561	571	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000041142

SMART Domains

Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	30	46	N/A	INTRINSIC
internal_repeat_2	48	106	4.93e-6	PROSPERO
internal_repeat_1	79	151	3.46e-38	PROSPERO
low complexity region	153	181	N/A	INTRINSIC
internal_repeat_1	183	254	3.46e-38	PROSPERO
internal_repeat_2	192	259	4.93e-6	PROSPERO
low complexity region	277	292	N/A	INTRINSIC
low complexity region	296	307	N/A	INTRINSIC
low complexity region	370	381	N/A	INTRINSIC
low complexity region	382	400	N/A	INTRINSIC
SEA	412	528	6.2e-43	SMART
low complexity region	537	552	N/A	INTRINSIC
Blast:SEA	557	624	2e-36	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000090924

SMART Domains

Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766

Domain	Start	End	E-Value	Type
RING	20	120	1.92e-6	SMART
BBOX	209	250	9.59e-7	SMART
Blast:BBC	258	382	8e-13	BLAST
FN3	417	502	2.03e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107464
AA Change: F681Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
AA Change: F681Y

Domain	Start	End	E-Value	Type
RING	10	110	1.92e-6	SMART
BBOX	199	240	9.59e-7	SMART
Blast:BBC	248	372	2e-13	BLAST
FN3	407	492	2.03e-2	SMART
low complexity region	538	548	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139419

Predicted Effect

probably benign
Transcript: ENSMUST00000143637

SMART Domains

Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766

Domain	Start	End	E-Value	Type
RING	33	133	1.92e-6	SMART
BBOX	222	263	9.59e-7	SMART
Blast:BBC	270	391	4e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146844

Meta Mutation Damage Score

0.4752

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

98% (95/97)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	A	G	9: 60,677,043 (GRCm39)		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,055,423 (GRCm39)		noncoding transcript	Het
Abce1	T	C	8: 80,433,864 (GRCm39)	K63R	possibly damaging	Het
Acp6	A	G	3: 97,081,104 (GRCm39)		probably benign	Het
Adamts13	T	A	2: 26,878,366 (GRCm39)	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,172,528 (GRCm39)	M497K	probably damaging	Het
Adgrb2	T	A	4: 129,908,384 (GRCm39)	M1042K	possibly damaging	Het
Akap12	A	T	10: 4,303,693 (GRCm39)	S168C	probably damaging	Het
Akap3	A	T	6: 126,842,517 (GRCm39)	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,486,437 (GRCm39)	M135I	probably null	Het
Arhgef12	A	G	9: 42,900,294 (GRCm39)	S860P	probably damaging	Het
Atp11b	A	C	3: 35,843,707 (GRCm39)	T185P	probably damaging	Het
Bcas1	T	C	2: 170,229,871 (GRCm39)	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,865,685 (GRCm39)	S228T	probably damaging	Het
Cic	T	C	7: 24,979,162 (GRCm39)		probably benign	Het
Cimap1d	A	T	10: 79,481,392 (GRCm39)		probably benign	Het
Cmya5	T	A	13: 93,201,835 (GRCm39)	I3376L	probably benign	Het
Ctrc	C	A	4: 141,573,535 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,404,451 (GRCm39)	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 130,646,217 (GRCm39)		probably benign	Het
Drd2	G	A	9: 49,313,512 (GRCm39)	R227H	probably damaging	Het
Dscc1	C	A	15: 54,950,160 (GRCm39)	C195F	probably damaging	Het
Dzip1	T	A	14: 119,160,125 (GRCm39)	M28L	probably benign	Het
Edar	A	T	10: 58,443,188 (GRCm39)	S313T	probably benign	Het
Eef1e1	C	A	13: 38,840,099 (GRCm39)	A69S	probably damaging	Het
Fbn1	A	G	2: 125,143,849 (GRCm39)	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,781,845 (GRCm39)		probably null	Het
Fgl1	C	G	8: 41,663,496 (GRCm39)	A11P	possibly damaging	Het
Fras1	T	C	5: 96,748,592 (GRCm39)	V689A	probably benign	Het
Fry	T	A	5: 150,304,324 (GRCm39)	D571E	probably damaging	Het
Gm11232	T	A	4: 71,675,450 (GRCm39)	R104*	probably null	Het
Gm1527	A	G	3: 28,972,199 (GRCm39)	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,659,640 (GRCm39)	G361*	probably null	Het
Gm7052	T	A	17: 22,259,447 (GRCm39)		probably benign	Het
Gpatch8	A	T	11: 102,372,055 (GRCm39)	S494R	unknown	Het
Gria2	A	T	3: 80,639,352 (GRCm39)	V220E	possibly damaging	Het
Grik4	G	A	9: 42,432,418 (GRCm39)	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,591,930 (GRCm39)	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,203,468 (GRCm39)		probably benign	Het
H2ac8	C	A	13: 23,755,221 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,485,451 (GRCm39)	R4384C	probably damaging	Het
Hspa12b	G	C	2: 130,987,112 (GRCm39)	A678P	probably damaging	Het
Igsf21	T	A	4: 139,755,435 (GRCm39)	N407Y	probably damaging	Het
Insig2	A	G	1: 121,234,885 (GRCm39)	Y174H	probably benign	Het
Itpr3	T	A	17: 27,337,346 (GRCm39)	M2413K	probably benign	Het
Kalrn	A	T	16: 33,994,857 (GRCm39)	I1322N	probably damaging	Het
Klk1b24	T	A	7: 43,840,890 (GRCm39)	M106K	possibly damaging	Het
Krt81	G	T	15: 101,358,198 (GRCm39)	Q352K	probably benign	Het
Lca5l	A	T	16: 95,961,059 (GRCm39)	S468T	possibly damaging	Het
Lvrn	T	C	18: 47,015,452 (GRCm39)		probably benign	Het
Mcpt1	T	A	14: 56,256,621 (GRCm39)		probably benign	Het
Med13l	T	C	5: 118,876,524 (GRCm39)	M900T	probably benign	Het
Med16	A	G	10: 79,743,312 (GRCm39)		probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mep1a	T	C	17: 43,802,563 (GRCm39)	H154R	probably damaging	Het
Mrc2	A	T	11: 105,228,598 (GRCm39)	D659V	probably benign	Het
Mroh8	T	A	2: 157,063,224 (GRCm39)	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,334,808 (GRCm39)	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,694,808 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,555,806 (GRCm39)	Q932K	probably benign	Het
Nav3	A	C	10: 109,555,905 (GRCm39)	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,674,666 (GRCm39)	V232A	possibly damaging	Het
Nfatc1	T	A	18: 80,708,482 (GRCm39)		probably benign	Het
Or2w4	C	T	13: 21,795,992 (GRCm39)	C49Y	probably benign	Het
Or5k8	T	A	16: 58,645,039 (GRCm39)	E11V	probably null	Het
P4hb	A	G	11: 120,453,381 (GRCm39)		probably benign	Het
Papss1	T	G	3: 131,311,615 (GRCm39)	I281S	probably damaging	Het
Pde10a	A	T	17: 9,183,540 (GRCm39)	D832V	probably damaging	Het
Pfkfb2	A	T	1: 130,635,927 (GRCm39)	Y35N	possibly damaging	Het
Phaf1	T	C	8: 105,973,188 (GRCm39)		probably null	Het
Phf20l1	T	A	15: 66,476,662 (GRCm39)	F253Y	probably damaging	Het
Pkhd1l1	G	A	15: 44,379,511 (GRCm39)	V1046I	probably benign	Het
Plin3	C	T	17: 56,591,337 (GRCm39)	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,567,942 (GRCm39)		probably benign	Het
Ppp2r3d	A	G	9: 101,088,511 (GRCm39)	L604P	probably damaging	Het
Prdm5	T	C	6: 65,860,585 (GRCm39)	V239A	probably damaging	Het
Prickle1	A	G	15: 93,398,519 (GRCm39)	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,365,310 (GRCm39)	I155N	probably benign	Het
Prom1	T	C	5: 44,190,274 (GRCm39)		probably benign	Het
Psg25	C	T	7: 18,263,512 (GRCm39)	G104R	probably damaging	Het
Rbm19	T	C	5: 120,282,094 (GRCm39)	V817A	probably benign	Het
Ryr2	T	A	13: 11,741,908 (GRCm39)	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,208,248 (GRCm39)	T253A	probably benign	Het
Smg7	A	T	1: 152,731,594 (GRCm39)		probably null	Het
Spink5	C	A	18: 44,140,786 (GRCm39)	H662N	probably benign	Het
Taf2	A	T	15: 54,923,311 (GRCm39)	M322K	probably damaging	Het
Tmc2	T	C	2: 130,090,682 (GRCm39)	F676S	probably damaging	Het
Tmem177	A	G	1: 119,837,915 (GRCm39)	S255P	possibly damaging	Het
Tubb1	T	A	2: 174,292,596 (GRCm39)		probably null	Het
Upf1	T	C	8: 70,796,904 (GRCm39)	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,996,850 (GRCm39)	I140L	probably benign	Het
Zfp638	T	A	6: 83,921,638 (GRCm39)	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,664,252 (GRCm39)	N101I	probably damaging	Het
Zpld2	T	C	4: 133,924,144 (GRCm39)	D467G	probably benign	Het

Other mutations in Trim46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Trim46	APN	3	89,151,725 (GRCm39)	unclassified	probably benign
IGL02082:Trim46	APN	3	89,146,307 (GRCm39)	missense	probably benign	0.03
IGL02405:Trim46	APN	3	89,149,792 (GRCm39)	missense	probably benign	0.09
hippocampus	UTSW	3	89,153,020 (GRCm39)	critical splice donor site	probably null
R0107:Trim46	UTSW	3	89,143,640 (GRCm39)	missense	probably damaging	1.00
R0295:Trim46	UTSW	3	89,152,420 (GRCm39)	unclassified	probably benign
R0330:Trim46	UTSW	3	89,143,820 (GRCm39)	missense	probably damaging	1.00
R1303:Trim46	UTSW	3	89,149,515 (GRCm39)	missense	probably benign	0.03
R1436:Trim46	UTSW	3	89,150,968 (GRCm39)	missense	probably damaging	1.00
R1990:Trim46	UTSW	3	89,145,008 (GRCm39)	missense	probably damaging	1.00
R1991:Trim46	UTSW	3	89,145,008 (GRCm39)	missense	probably damaging	1.00
R1992:Trim46	UTSW	3	89,145,008 (GRCm39)	missense	probably damaging	1.00
R2102:Trim46	UTSW	3	89,142,504 (GRCm39)	missense	probably damaging	1.00
R3729:Trim46	UTSW	3	89,142,256 (GRCm39)	missense	probably benign
R3730:Trim46	UTSW	3	89,142,256 (GRCm39)	missense	probably benign
R4603:Trim46	UTSW	3	89,150,958 (GRCm39)	missense	probably benign	0.11
R6648:Trim46	UTSW	3	89,142,549 (GRCm39)	missense	possibly damaging	0.88
R6962:Trim46	UTSW	3	89,146,303 (GRCm39)	missense	probably damaging	1.00
R7761:Trim46	UTSW	3	89,149,565 (GRCm39)	missense	probably damaging	1.00
R7905:Trim46	UTSW	3	89,151,633 (GRCm39)	missense	probably damaging	1.00
R8228:Trim46	UTSW	3	89,142,255 (GRCm39)	missense	probably benign
R8307:Trim46	UTSW	3	89,151,223 (GRCm39)	missense	probably benign	0.12
R8509:Trim46	UTSW	3	89,153,020 (GRCm39)	critical splice donor site	probably null
R8958:Trim46	UTSW	3	89,143,760 (GRCm39)	missense	probably damaging	1.00
R8992:Trim46	UTSW	3	89,143,692 (GRCm39)	missense	probably damaging	1.00
R9208:Trim46	UTSW	3	89,142,466 (GRCm39)	missense	possibly damaging	0.73
R9786:Trim46	UTSW	3	89,142,399 (GRCm39)	missense	probably damaging	1.00
X0021:Trim46	UTSW	3	89,151,016 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTCCAGTTTGGCAAAGCCC -3'
(R):5'- AAAAGCCCGGAGCCTTACAGTG -3'

Sequencing Primer
(F):5'- GTTTGGCAAAGCCCCCAATG -3'
(R):5'- CGGAGCCTTACAGTGTAACC -3'

Posted On

2014-03-14