Mutagenetix > Incidental Mutation

Incidental Mutation 'R8992:Trim46'

684459

Institutional Source

Beutler Lab

Gene Symbol

Trim46

Ensembl Gene

ENSMUSG00000042766

Gene Name

tripartite motif-containing 46

Synonyms

TRIFIC

MMRRC Submission

068823-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.695) question?

Stock #

R8992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89141484-89153616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89143692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 602 (S602P)

Ref Sequence

ENSEMBL: ENSMUSP00000036053 (fasta)

Gene Model

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

AlphaFold

Q7TNM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041022
AA Change: S602P

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

SMART Domains

Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
AA Change: S602P

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 benign
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: S579P

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

SMART Domains

Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
AA Change: S579P

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

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

Meta Mutation Damage Score

0.4958

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	A	G	9: 106,328,817 (GRCm39)	D146G	probably benign	Het
Abhd6	T	A	14: 8,028,282 (GRCm38)	D4E	probably benign	Het
Atp5if1	T	C	4: 132,260,685 (GRCm39)	D34G	probably benign	Het
Bcr	T	C	10: 74,967,404 (GRCm39)	F546S	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc141	A	T	2: 76,844,739 (GRCm39)	W1443R	probably damaging	Het
Chd7	A	G	4: 8,839,589 (GRCm39)	D1375G	probably damaging	Het
Chi3l1	A	T	1: 134,115,662 (GRCm39)	Q223H	probably benign	Het
Clcn2	A	T	16: 20,531,080 (GRCm39)	F260I	probably damaging	Het
Cpq	A	T	15: 33,594,381 (GRCm39)	D464V	probably benign	Het
Crygb	T	C	1: 65,121,300 (GRCm39)	D9G	probably damaging	Het
Cyp2b10	A	G	7: 25,624,815 (GRCm39)	K438E	unknown	Het
Cyp46a1	A	T	12: 108,324,366 (GRCm39)	D381V	possibly damaging	Het
Dhx40	A	C	11: 86,667,582 (GRCm39)		probably benign	Het
Dnase2b	G	T	3: 146,292,717 (GRCm39)	P152Q	probably damaging	Het
Duox1	A	T	2: 122,175,186 (GRCm39)	H1328L	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fam168b	A	G	1: 34,858,862 (GRCm39)	F102L	probably benign	Het
Fam3b	T	A	16: 97,277,594 (GRCm39)	D128V	probably damaging	Het
Galnt11	T	G	5: 25,469,983 (GRCm39)	H527Q	possibly damaging	Het
Gbp2b	A	T	3: 142,316,730 (GRCm39)	R460S	probably benign	Het
Hdhd2	A	C	18: 77,058,366 (GRCm39)	S246R	possibly damaging	Het
Heatr1	T	C	13: 12,415,995 (GRCm39)	M189T	probably damaging	Het
Ift70a1	A	T	2: 75,810,251 (GRCm39)	C611S	probably benign	Het
Ino80	A	G	2: 119,210,059 (GRCm39)	S1411P	possibly damaging	Het
Jakmip1	A	G	5: 37,274,882 (GRCm39)	T467A	probably benign	Het
Kcnh2	A	G	5: 24,536,868 (GRCm39)	S239P	probably benign	Het
Lct	T	A	1: 128,228,299 (GRCm39)	T1065S	probably damaging	Het
Lrrc66	T	C	5: 73,787,227 (GRCm39)	D41G	probably benign	Het
Mfsd2b	A	T	12: 4,921,490 (GRCm39)	D26E	probably benign	Het
Myh1	A	T	11: 67,096,607 (GRCm39)	M333L	probably benign	Het
Neurl4	T	C	11: 69,798,958 (GRCm39)	V855A	possibly damaging	Het
Nfkb2	T	A	19: 46,295,304 (GRCm39)	V80D	probably damaging	Het
Nop9	T	C	14: 55,983,438 (GRCm39)	S70P	possibly damaging	Het
Or2t46	A	G	11: 58,471,738 (GRCm39)	S23G	probably benign	Het
Pcdhb14	G	T	18: 37,582,231 (GRCm39)	D446Y	probably damaging	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Pdgfa	G	T	5: 138,971,977 (GRCm39)	Q141K	probably damaging	Het
Plekhh1	G	T	12: 79,122,307 (GRCm39)	L1133F	probably damaging	Het
Pole	A	T	5: 110,471,488 (GRCm39)	N1411Y	possibly damaging	Het
Primpol	A	G	8: 47,034,597 (GRCm39)		probably benign	Het
Psmc5	T	G	11: 106,152,787 (GRCm39)	V203G	probably damaging	Het
Ptgdr	C	T	14: 45,096,181 (GRCm39)	C177Y	probably damaging	Het
Ptgir	A	T	7: 16,641,220 (GRCm39)	I171F	probably damaging	Het
Ptprg	T	A	14: 12,154,170 (GRCm38)	H630Q	probably benign	Het
Ptrh2	A	G	11: 86,580,907 (GRCm39)	T175A	possibly damaging	Het
Ralgapb	A	G	2: 158,296,197 (GRCm39)	T857A	probably damaging	Het
Rnf24	A	G	2: 131,155,197 (GRCm39)	F10S	possibly damaging	Het
Rreb1	C	A	13: 38,114,352 (GRCm39)	S570R	probably benign	Het
Rttn	A	G	18: 88,995,832 (GRCm39)	N205S	probably benign	Het
Rusc1	T	C	3: 88,999,365 (GRCm39)	E139G	probably benign	Het
Scn2a	A	G	2: 65,594,242 (GRCm39)	N1697S	probably damaging	Het
Serpinb3a	T	A	1: 106,974,907 (GRCm39)	M209L	probably damaging	Het
Shank3	A	G	15: 89,432,888 (GRCm39)	D1211G	possibly damaging	Het
Slc22a12	C	A	19: 6,592,514 (GRCm39)	R90L	possibly damaging	Het
Slc6a13	G	A	6: 121,313,901 (GRCm39)	W548*	probably null	Het
Srfbp1	T	A	18: 52,609,392 (GRCm39)	L59*	probably null	Het
Ss18	A	T	18: 14,803,380 (GRCm39)	S73T	probably damaging	Het
Syne1	T	C	10: 5,135,508 (GRCm39)	K189R	probably benign	Het
Szt2	G	T	4: 118,239,985 (GRCm39)		probably benign	Het
Tbx1	T	A	16: 18,402,937 (GRCm39)	H183L	probably damaging	Het
Thop1	A	G	10: 80,915,972 (GRCm39)	E385G	possibly damaging	Het
Tmem168	C	A	6: 13,602,849 (GRCm39)	M172I	possibly damaging	Het
Tmem67	A	G	4: 12,058,559 (GRCm39)	Y513H	probably damaging	Het
Top1	A	G	2: 160,562,921 (GRCm39)	D709G	probably damaging	Het
Tprg1l	A	C	4: 154,242,890 (GRCm39)	S247A	probably damaging	Het
Ttc7b	T	C	12: 100,466,433 (GRCm39)	K60E	probably benign	Het
Ttn	G	A	2: 76,714,815 (GRCm39)	S8053F	unknown	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp24	T	A	4: 106,234,762 (GRCm39)	H956Q	probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Xpc	G	A	6: 91,477,956 (GRCm39)	T309I	possibly damaging	Het
Zfp560	C	T	9: 20,260,895 (GRCm39)	M129I	probably benign	Het
Zpld2	G	A	4: 133,929,978 (GRCm39)	T109I	probably damaging	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
R1458:Trim46	UTSW	3	89,142,375 (GRCm39)	splice site	probably null
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
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'- AAAGTCCCTTCTGCTGAGCC -3'
(R):5'- TTTGTGCTGACACCCCACAG -3'

Sequencing Primer
(F):5'- TCTCGGGCTGGCTTCCATG -3'
(R):5'- AGTACCAGTCTGTCCCTGAAG -3'

Posted On

2021-10-11